CleftGeneDB-Search

Gene: HSD17B7

Basic information

Tag	Content
Uniprot ID	P56937; Q5T246; Q7Z4V9; Q8WWS2; Q9UF00;
Entrez ID	51478
Genbank protein ID	AAF09266.2; CAC20418.1; AAF14537.1; AAP35738.1; AAH07068.1; EAW90716.1; AAQ89321.1; AAH65246.1; CAC88111.1; AAP97275.1; BAF83430.1;
Genbank nucleotide ID	NM_001304513.1; NM_016371.3; NM_001304512.1;
Ensembl protein ID	ENSP00000254521
Ensembl nucleotide ID	ENSG00000132196
Gene name	3-keto-steroid reductase
Gene symbol	HSD17B7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Responsible for the reduction of the keto group on the C-3 of sterols.
Sequence	MRKVVLITGA SSGIGLALCK RLLAEDDELH LCLACRNMSK AEAVCAALLA SHPTAEVTIV 60 QVDVSNLQSV FRASKELKQR FQRLDCIYLN AGIMPNPQLN IKALFFGLFS RKVIHMFSTA 120 EGLLTQGDKI TADGLQEVFE TNVFGHFILI RELEPLLCHS DNPSQLIWTS SRSARKSNFS 180 LEDFQHSKGK EPYSSSKYAT DLLSVALNRN FNQQGLYSNV ACPGTALTNL TYGILPPFIW 240 TLLMPAILLL RFFANAFTLT PYNGTEALVW LFHQKPESLN PLIKYLSATT GFGRNYIMTQ 300 KMDLDEDTAE KFYQKLLELE KHIRVTIQKT DNQARLSGSC L 341

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	HSD17B7	505212	A4FUD2		Bos taurus	Prediction	More>>
1:1 ortholog	HSD17B7	609364	E2RNT4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	HSD17B7	102179058	A0A452DSV0		Capra hircus	Prediction	More>>
1:1 ortholog	HSD17B7	51478	P56937		Homo sapiens	Prediction	More>>
1:1 ortholog	Hsd17b7	15490	O88736	CPO	Mus musculus	Publication	More>>
1:1 ortholog	HSD17B7		H2Q1T6		Pan troglodytes	Prediction	More>>
1:1 ortholog	HSD17B7		F1S213		Sus scrofa	Prediction	More>>
1:1 ortholog	Hsd17b7	29540	Q62904		Rattus norvegicus	Prediction	More>>
1:1 ortholog	hsd17b7	768185	Q08BC5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs778918459	p.Arg2Ter	stop gained	-	NC_000001.11:g.162790804C>T	ExAC,TOPMed,gnomAD
rs778918459	p.Arg2Gly	missense variant	-	NC_000001.11:g.162790804C>G	ExAC,TOPMed,gnomAD
rs1224870633	p.Val4Ala	missense variant	-	NC_000001.11:g.162790811T>C	gnomAD
rs1339594346	p.Ile7Leu	missense variant	-	NC_000001.11:g.162790819A>C	gnomAD
rs138228498	p.Thr8Ser	missense variant	-	NC_000001.11:g.162790823C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780864653	p.Gly9Val	missense variant	-	NC_000001.11:g.162790826G>T	ExAC,TOPMed,gnomAD
rs116929795	p.Ser11Thr	missense variant	-	NC_000001.11:g.162790832G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769592375	p.Ser11Gly	missense variant	-	NC_000001.11:g.162790831A>G	ExAC,TOPMed,gnomAD
rs762552227	p.Ser12Asn	missense variant	-	NC_000001.11:g.162790835G>A	ExAC,TOPMed,gnomAD
rs1458530307	p.Gly13Asp	missense variant	-	NC_000001.11:g.162792661G>A	TOPMed,gnomAD
rs748791077	p.Leu16Val	missense variant	-	NC_000001.11:g.162792669C>G	ExAC,TOPMed,gnomAD
rs747429092	p.Ala17Val	missense variant	-	NC_000001.11:g.162792673C>T	ExAC,gnomAD
rs577874939	p.Cys19Gly	missense variant	-	NC_000001.11:g.162792678T>G	1000Genomes,ExAC,gnomAD
rs1261720715	p.Lys20Asn	missense variant	-	NC_000001.11:g.162792683G>C	gnomAD
NCI-TCGA novel	p.Lys20Ter	stop gained	-	NC_000001.11:g.162792681A>T	NCI-TCGA
rs1202072484	p.Arg21Gln	missense variant	-	NC_000001.11:g.162792685G>A	TOPMed,gnomAD
rs543708667	p.Arg21Trp	missense variant	-	NC_000001.11:g.162792684C>T	1000Genomes,ExAC,gnomAD
rs1202072484	p.Arg21Leu	missense variant	-	NC_000001.11:g.162792685G>T	TOPMed,gnomAD
rs773491571	p.Leu23Met	missense variant	-	NC_000001.11:g.162792690C>A	ExAC,gnomAD
rs1303238868	p.Leu23Pro	missense variant	-	NC_000001.11:g.162792691T>C	TOPMed,gnomAD
rs373109770	p.Ala24Val	missense variant	-	NC_000001.11:g.162792694C>T	NCI-TCGA
rs373109770	p.Ala24Val	missense variant	-	NC_000001.11:g.162792694C>T	ESP,ExAC,TOPMed,gnomAD
rs752373083	p.Glu28Gln	missense variant	-	NC_000001.11:g.162792705G>C	ExAC,TOPMed,gnomAD
rs752373083	p.Glu28Lys	missense variant	-	NC_000001.11:g.162792705G>A	ExAC,TOPMed,gnomAD
rs376077033	p.Leu29Phe	missense variant	-	NC_000001.11:g.162792708C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.His30Gln	missense variant	-	NC_000001.11:g.162792713T>A	NCI-TCGA
rs1330410584	p.Ala34Pro	missense variant	-	NC_000001.11:g.162792723G>C	TOPMed
rs748999552	p.Ala34Val	missense variant	-	NC_000001.11:g.162792724C>T	ExAC,TOPMed,gnomAD
rs1304123778	p.Cys35Gly	missense variant	-	NC_000001.11:g.162792726T>G	gnomAD
rs372712048	p.Arg36Gly	missense variant	-	NC_000001.11:g.162792729A>G	ESP,TOPMed,gnomAD
rs778250388	p.Met38Leu	missense variant	-	NC_000001.11:g.162792735A>C	ExAC,gnomAD
rs778250388	p.Met38Val	missense variant	-	NC_000001.11:g.162792735A>G	ExAC,gnomAD
rs1391389687	p.Met38Arg	missense variant	-	NC_000001.11:g.162792736T>G	gnomAD
NCI-TCGA novel	p.Lys40Asn	missense variant	-	NC_000001.11:g.162792743G>C	NCI-TCGA
rs140205611	p.Cys45Tyr	missense variant	-	NC_000001.11:g.162792757G>A	ESP,ExAC,TOPMed,gnomAD
rs140205611	p.Cys45Ser	missense variant	-	NC_000001.11:g.162792757G>C	ESP,ExAC,TOPMed,gnomAD
rs1222074190	p.Ala46Ser	missense variant	-	NC_000001.11:g.162792759G>T	gnomAD
rs1324565073	p.Leu49Arg	missense variant	-	NC_000001.11:g.162792769T>G	TOPMed,gnomAD
rs1212485748	p.His52Arg	missense variant	-	NC_000001.11:g.162792778A>G	gnomAD
rs748509639	p.Pro53Ser	missense variant	-	NC_000001.11:g.162792780C>T	ExAC,gnomAD
rs1480349246	p.Ala55Thr	missense variant	-	NC_000001.11:g.162792786G>A	gnomAD
rs770185985	p.Val57Ile	missense variant	-	NC_000001.11:g.162792792G>A	ExAC,TOPMed,gnomAD
rs770185985	p.Val57Leu	missense variant	-	NC_000001.11:g.162792792G>C	ExAC,TOPMed,gnomAD
rs889485276	p.Thr58Ala	missense variant	-	NC_000001.11:g.162792795A>G	TOPMed
rs1007812807	p.Ile59Val	missense variant	-	NC_000001.11:g.162792798A>G	TOPMed
rs181183638	p.Ile59Met	missense variant	-	NC_000001.11:g.162792800T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1196033356	p.Gln61Ter	stop gained	-	NC_000001.11:g.162792804C>T	TOPMed
rs771215070	p.Gln61Arg	missense variant	-	NC_000001.11:g.162792805A>G	ExAC
rs1247761784	p.Asn66Ser	missense variant	-	NC_000001.11:g.162792820A>G	TOPMed
rs1370898605	p.Ser69Leu	missense variant	-	NC_000001.11:g.162792829C>T	TOPMed,gnomAD
rs763935491	p.Arg72Trp	missense variant	-	NC_000001.11:g.162792837C>T	ExAC,gnomAD
rs1403586392	p.Arg72Gln	missense variant	-	NC_000001.11:g.162792838G>A	gnomAD
rs1403586392	p.Arg72Gln	missense variant	-	NC_000001.11:g.162792838G>A	NCI-TCGA Cosmic
rs756796880	p.Ser74Cys	missense variant	-	NC_000001.11:g.162792844C>G	ExAC,gnomAD
rs756796880	p.Ser74Cys	missense variant	-	NC_000001.11:g.162792844C>G	NCI-TCGA
rs778641456	p.Lys75Glu	missense variant	-	NC_000001.11:g.162792846A>G	ExAC,gnomAD
rs1221222889	p.Glu76Lys	missense variant	-	NC_000001.11:g.162792849G>A	gnomAD
rs749888119	p.Glu76Gly	missense variant	-	NC_000001.11:g.162792850A>G	ExAC,gnomAD
rs963632785	p.Lys78Arg	missense variant	-	NC_000001.11:g.162792856A>G	TOPMed,gnomAD
rs781521567	p.Gln79Ter	stop gained	-	NC_000001.11:g.162792858C>T	ExAC,gnomAD
rs149698797	p.Gln79Arg	missense variant	-	NC_000001.11:g.162792859A>G	ESP,TOPMed
rs1319620430	p.Arg80Thr	missense variant	-	NC_000001.11:g.162792862G>C	TOPMed
rs139465501	p.Arg80Ser	missense variant	-	NC_000001.11:g.162796585G>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Arg80Met	missense variant	-	NC_000001.11:g.162792862G>T	NCI-TCGA
COSM4024618	p.Phe81Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162796587T>G	NCI-TCGA Cosmic
rs779488692	p.Cys86Gly	missense variant	-	NC_000001.11:g.162796601T>G	ExAC,gnomAD
rs1287101952	p.Ile87Met	missense variant	-	NC_000001.11:g.162796606A>G	TOPMed
rs888715942	p.Ile87Val	missense variant	-	NC_000001.11:g.162796604A>G	TOPMed
rs751099503	p.Tyr88Cys	missense variant	-	NC_000001.11:g.162796608A>G	ExAC,gnomAD
rs756546235	p.Gly92Arg	missense variant	-	NC_000001.11:g.162796619G>C	ExAC,gnomAD
rs756546235	p.Gly92Trp	missense variant	-	NC_000001.11:g.162796619G>T	ExAC,gnomAD
rs1004761907	p.Ile93Thr	missense variant	-	NC_000001.11:g.162796623T>C	TOPMed,gnomAD
rs142312007	p.Met94Val	missense variant	-	NC_000001.11:g.162796625A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1277689870	p.Met94Lys	missense variant	-	NC_000001.11:g.162796626T>A	gnomAD
rs771390638	p.Pro97Ala	missense variant	-	NC_000001.11:g.162796634C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro97Leu	missense variant	-	NC_000001.11:g.162796635C>T	NCI-TCGA
rs1289944497	p.Gln98Arg	missense variant	-	NC_000001.11:g.162796638A>G	gnomAD
rs772217944	p.Ala103Thr	missense variant	-	NC_000001.11:g.162796652G>A	ExAC,TOPMed,gnomAD
COSM898800	p.Phe105Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162796660C>A	NCI-TCGA Cosmic
rs775648816	p.Leu108His	missense variant	-	NC_000001.11:g.162796668T>A	ExAC,TOPMed,gnomAD
rs775648816	p.Leu108Pro	missense variant	-	NC_000001.11:g.162796668T>C	ExAC,TOPMed,gnomAD
rs1278790389	p.Leu108Phe	missense variant	-	NC_000001.11:g.162796667C>T	gnomAD
NCI-TCGA novel	p.Ser110Leu	missense variant	-	NC_000001.11:g.162796674C>T	NCI-TCGA
COSM4830624	p.Arg111Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162796677G>T	NCI-TCGA Cosmic
rs199782980	p.Met116Ile	missense variant	-	NC_000001.11:g.162797817G>A	TOPMed
rs779298649	p.Met116Val	missense variant	-	NC_000001.11:g.162797815A>G	ExAC,gnomAD
rs1360942285	p.Phe117Leu	missense variant	-	NC_000001.11:g.162797820C>A	TOPMed
rs746226895	p.Ser118Tyr	missense variant	-	NC_000001.11:g.162797822C>A	ExAC,TOPMed
rs368354621	p.Thr119Ala	missense variant	-	NC_000001.11:g.162797824A>G	ESP,ExAC,TOPMed,gnomAD
COSM898801	p.Ala120Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162797828C>A	NCI-TCGA Cosmic
rs1384999939	p.Gly122Asp	missense variant	-	NC_000001.11:g.162797834G>A	gnomAD
rs143124291	p.Thr125Ile	missense variant	-	NC_000001.11:g.162797843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747081962	p.Gln126His	missense variant	-	NC_000001.11:g.162797847G>C	ExAC,TOPMed,gnomAD
rs768897372	p.Gly127Val	missense variant	-	NC_000001.11:g.162797849G>T	ExAC,gnomAD
rs1167435653	p.Asp128Val	missense variant	-	NC_000001.11:g.162797852A>T	gnomAD
rs748071862	p.Val138Ala	missense variant	-	NC_000001.11:g.162797882T>C	ExAC,gnomAD
rs1428302112	p.Phe139Leu	missense variant	-	NC_000001.11:g.162797884T>C	TOPMed
rs772991812	p.Glu140Ala	missense variant	-	NC_000001.11:g.162797888A>C	ExAC,TOPMed,gnomAD
rs769649157	p.Glu140Gln	missense variant	-	NC_000001.11:g.162797887G>C	ExAC,gnomAD
rs2257864	p.Asn142Tyr	missense variant	-	NC_000001.11:g.162797893A>T	TOPMed
rs2257864	p.Asn142His	missense variant	-	NC_000001.11:g.162797893A>C	TOPMed
rs2257864	p.Asn142Asp	missense variant	-	NC_000001.11:g.162797893A>G	TOPMed
rs1428189337	p.Ile148Phe	missense variant	-	NC_000001.11:g.162797911A>T	gnomAD
rs1428189337	p.Ile148Val	missense variant	-	NC_000001.11:g.162797911A>G	gnomAD
rs370157486	p.Leu149Pro	missense variant	-	NC_000001.11:g.162797915T>C	ESP,ExAC,gnomAD
rs760162468	p.Ile150Met	missense variant	-	NC_000001.11:g.162799745T>G	ExAC,gnomAD
rs756309267	p.Arg151Gln	missense variant	-	NC_000001.11:g.162799747G>A	ExAC,TOPMed,gnomAD
rs765770658	p.Arg151Trp	missense variant	-	NC_000001.11:g.162799746C>T	ExAC,TOPMed,gnomAD
rs1483611906	p.Glu154Asp	missense variant	-	NC_000001.11:g.162799757G>C	gnomAD
rs763391153	p.Leu157Val	missense variant	-	NC_000001.11:g.162799764C>G	ExAC,gnomAD
rs1258189084	p.Leu157His	missense variant	-	NC_000001.11:g.162799765T>A	gnomAD
NCI-TCGA novel	p.Leu157HisPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.162799762_162799780TCCTCTGTCACAGTGACAA>-	NCI-TCGA
rs766803267	p.Ser160Gly	missense variant	-	NC_000001.11:g.162799773A>G	ExAC,gnomAD
rs752006436	p.Asp161Gly	missense variant	-	NC_000001.11:g.162799777A>G	ExAC,gnomAD
rs755181917	p.Asp161Glu	missense variant	-	NC_000001.11:g.162799778C>G	ExAC,gnomAD
rs528471207	p.Asn162Ser	missense variant	-	NC_000001.11:g.162799780A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs752804774	p.Gln165Ter	stop gained	-	NC_000001.11:g.162799788C>T	ExAC,gnomAD
rs1376653937	p.Gln165His	missense variant	-	NC_000001.11:g.162799790G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln165Glu	missense variant	-	NC_000001.11:g.162799788C>G	NCI-TCGA
rs1348532331	p.Leu166Ile	missense variant	-	NC_000001.11:g.162799791C>A	TOPMed
rs777734754	p.Ile167Val	missense variant	-	NC_000001.11:g.162799794A>G	ExAC,TOPMed,gnomAD
rs777734754	p.Ile167Leu	missense variant	-	NC_000001.11:g.162799794A>C	ExAC,TOPMed,gnomAD
rs770876579	p.Ser170Leu	missense variant	-	NC_000001.11:g.162799804C>T	ExAC,gnomAD
rs745677556	p.Arg172His	missense variant	-	NC_000001.11:g.162799810G>A	ExAC,gnomAD
rs372923913	p.Arg172Cys	missense variant	-	NC_000001.11:g.162799809C>T	ESP,ExAC,TOPMed,gnomAD
rs745677556	p.Arg172Leu	missense variant	-	NC_000001.11:g.162799810G>T	ExAC,gnomAD
rs775073403	p.Ser173Asn	missense variant	-	NC_000001.11:g.162799813G>A	ExAC,TOPMed,gnomAD
rs1350663171	p.Ala174Val	missense variant	-	NC_000001.11:g.162799816C>T	TOPMed
rs1312925755	p.Ala174Thr	missense variant	-	NC_000001.11:g.162799815G>A	gnomAD
rs1235553323	p.Arg175Met	missense variant	-	NC_000001.11:g.162799819G>T	gnomAD
rs1340032718	p.Phe179Cys	missense variant	-	NC_000001.11:g.162799831T>G	gnomAD
rs776230521	p.Ser180Thr	missense variant	-	NC_000001.11:g.162799834G>C	ExAC,TOPMed,gnomAD
rs766995976	p.Glu182Lys	missense variant	-	NC_000001.11:g.162799839G>A	ExAC,TOPMed,gnomAD
rs751912398	p.Glu182Ala	missense variant	-	NC_000001.11:g.162799840A>C	ExAC,gnomAD
rs766995976	p.Glu182Ter	stop gained	-	NC_000001.11:g.162799839G>T	ExAC,TOPMed,gnomAD
rs1177656238	p.Gln185Ter	stop gained	-	NC_000001.11:g.162799848C>T	gnomAD
NCI-TCGA novel	p.His186Tyr	missense variant	-	NC_000001.11:g.162799851C>T	NCI-TCGA
NCI-TCGA novel	p.Gly189Asp	missense variant	-	NC_000001.11:g.162799861G>A	NCI-TCGA
rs1169778683	p.Lys190Gln	missense variant	-	NC_000001.11:g.162799863A>C	TOPMed,gnomAD
rs752902389	p.Pro192Ser	missense variant	-	NC_000001.11:g.162799869C>T	ExAC,gnomAD
rs142760869	p.Tyr193His	missense variant	-	NC_000001.11:g.162799872T>C	ESP
rs756195832	p.Ser194Asn	missense variant	-	NC_000001.11:g.162799876G>A	ExAC,TOPMed,gnomAD
rs1388708713	p.Lys197Arg	missense variant	-	NC_000001.11:g.162799885A>G	gnomAD
rs764029991	p.Tyr198His	missense variant	-	NC_000001.11:g.162799887T>C	ExAC,gnomAD
COSM4024619	p.Ala199Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162799890G>A	NCI-TCGA Cosmic
rs757130488	p.Asp201Glu	missense variant	-	NC_000001.11:g.162799898C>A	ExAC,gnomAD
rs376635741	p.Leu202Phe	missense variant	-	NC_000001.11:g.162799899C>T	ESP,ExAC,gnomAD
rs374550756	p.Ser204Arg	missense variant	-	NC_000001.11:g.162799905A>C	ESP,ExAC,gnomAD
rs1209232726	p.Val205Glu	missense variant	-	NC_000001.11:g.162799909T>A	TOPMed
rs1219150287	p.Ala206Ser	missense variant	-	NC_000001.11:g.162799911G>T	gnomAD
rs758167858	p.Leu207Met	missense variant	-	NC_000001.11:g.162799914T>A	ExAC,TOPMed,gnomAD
rs779739322	p.Phe211Ser	missense variant	-	NC_000001.11:g.162799927T>C	ExAC,gnomAD
rs746597194	p.Asn212Ser	missense variant	-	NC_000001.11:g.162799930A>G	ExAC,TOPMed,gnomAD
rs1218394855	p.Gln214Ter	stop gained	-	NC_000001.11:g.162799935C>T	TOPMed
NCI-TCGA novel	p.Gln214Lys	missense variant	-	NC_000001.11:g.162799935C>A	NCI-TCGA
rs901583968	p.Gly215Val	missense variant	-	NC_000001.11:g.162803432G>T	TOPMed
COSM4829048	p.Tyr217Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803437T>G	NCI-TCGA Cosmic
rs751296658	p.Ser218Ala	missense variant	-	NC_000001.11:g.162803440T>G	ExAC,gnomAD
rs754866497	p.Ser218Tyr	missense variant	-	NC_000001.11:g.162803441C>A	ExAC,gnomAD
rs1477799364	p.Asn219Ser	missense variant	-	NC_000001.11:g.162803444A>G	TOPMed,gnomAD
rs780957752	p.Val220Met	missense variant	-	NC_000001.11:g.162803446G>A	ExAC,gnomAD
rs752442127	p.Val220Glu	missense variant	-	NC_000001.11:g.162803447T>A	ExAC,TOPMed,gnomAD
rs1353849676	p.Ala221Gly	missense variant	-	NC_000001.11:g.162803450C>G	TOPMed
rs1427327470	p.Ala221Pro	missense variant	-	NC_000001.11:g.162803449G>C	TOPMed,gnomAD
rs1436565170	p.Cys222Tyr	missense variant	-	NC_000001.11:g.162803453G>A	gnomAD
rs1005857756	p.Cys222Arg	missense variant	-	NC_000001.11:g.162803452T>C	TOPMed
rs1436565170	p.Cys222Ser	missense variant	-	NC_000001.11:g.162803453G>C	gnomAD
rs755852918	p.Thr225Ile	missense variant	-	NC_000001.11:g.162803462C>T	ExAC,gnomAD
rs1166632802	p.Thr225Ala	missense variant	-	NC_000001.11:g.162803461A>G	TOPMed,gnomAD
COSM4024620	p.Leu227Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803468T>C	NCI-TCGA Cosmic
COSM898802	p.Leu227Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803469G>T	NCI-TCGA Cosmic
rs780680589	p.Asn229Ser	missense variant	-	NC_000001.11:g.162803474A>G	ExAC,TOPMed,gnomAD
rs540197074	p.Asn229Asp	missense variant	-	NC_000001.11:g.162803473A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu230Phe	missense variant	-	NC_000001.11:g.162803478G>T	NCI-TCGA
rs372913041	p.Tyr232His	missense variant	-	NC_000001.11:g.162803482T>C	ESP,ExAC,TOPMed,gnomAD
rs769059069	p.Gly233Ala	missense variant	-	NC_000001.11:g.162803486G>C	ExAC,gnomAD
rs761986410	p.Pro236Leu	missense variant	-	NC_000001.11:g.162803495C>T	ExAC,gnomAD
rs560193106	p.Pro237Leu	missense variant	-	NC_000001.11:g.162803498C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3477490	p.Pro237Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803497C>T	NCI-TCGA Cosmic
rs1199833908	p.Ile239Thr	missense variant	-	NC_000001.11:g.162803504T>C	gnomAD
rs1248593979	p.Thr241Ala	missense variant	-	NC_000001.11:g.162803509A>G	TOPMed,gnomAD
rs148144473	p.Thr241Met	missense variant	-	NC_000001.11:g.162803510C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147380085	p.Leu242Val	missense variant	-	NC_000001.11:g.162803512C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147380085	p.Leu242Met	missense variant	-	NC_000001.11:g.162803512C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu242Pro	missense variant	-	NC_000001.11:g.162803513T>C	NCI-TCGA
rs755758553	p.Met244Ile	missense variant	-	NC_000001.11:g.162803520G>A	ExAC,TOPMed,gnomAD
rs563074340	p.Pro245Leu	missense variant	-	NC_000001.11:g.162803522C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM898803	p.Ala246Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803524G>A	NCI-TCGA Cosmic
rs927413092	p.Ile247Val	missense variant	-	NC_000001.11:g.162803527A>G	TOPMed,gnomAD
rs1331910859	p.Leu248Phe	missense variant	-	NC_000001.11:g.162803532G>C	TOPMed
rs763624588	p.Leu250Phe	missense variant	-	NC_000001.11:g.162804267C>T	ExAC,gnomAD
rs753578254	p.Arg251Cys	missense variant	-	NC_000001.11:g.162804270C>T	ExAC,gnomAD
rs756882481	p.Arg251His	missense variant	-	NC_000001.11:g.162804271G>A	ExAC,TOPMed,gnomAD
rs749944458	p.Phe253Leu	missense variant	-	NC_000001.11:g.162804278T>G	ExAC,gnomAD
rs764764777	p.Phe253Ser	missense variant	-	NC_000001.11:g.162804277T>C	ExAC,gnomAD
rs755424114	p.Ala254Pro	missense variant	-	NC_000001.11:g.162804279G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala254CysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.162804272_162804273insT	NCI-TCGA
rs907474898	p.Asn255Asp	missense variant	-	NC_000001.11:g.162804282A>G	TOPMed,gnomAD
rs531919953	p.Thr258Ser	missense variant	-	NC_000001.11:g.162804291A>T	1000Genomes,ExAC,gnomAD
COSM3477491	p.Thr258Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162804292C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro261Ser	missense variant	-	NC_000001.11:g.162804300C>T	NCI-TCGA
rs1471439243	p.Tyr262Cys	missense variant	-	NC_000001.11:g.162804304A>G	gnomAD
rs1259326843	p.Tyr262His	missense variant	-	NC_000001.11:g.162804303T>C	gnomAD
rs371366005	p.Asn263Asp	missense variant	-	NC_000001.11:g.162804306A>G	ESP,ExAC,gnomAD
rs774421811	p.Gly264Glu	missense variant	-	NC_000001.11:g.162804310G>A	ExAC,gnomAD
rs775610195	p.Thr265Ala	missense variant	-	NC_000001.11:g.162804312A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu266Ter	stop gained	-	NC_000001.11:g.162804315G>T	NCI-TCGA
COSM676561	p.Ala267Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162804318G>A	NCI-TCGA Cosmic
rs1339912878	p.Trp270Arg	missense variant	-	NC_000001.11:g.162805397T>C	gnomAD
rs1204210991	p.Leu271Phe	missense variant	-	NC_000001.11:g.162805400C>T	gnomAD
rs768483707	p.His273Gln	missense variant	-	NC_000001.11:g.162805408C>A	ExAC,gnomAD
rs1481446153	p.Lys275Asn	missense variant	-	NC_000001.11:g.162805414G>T	TOPMed,gnomAD
rs769485031	p.Pro276Leu	missense variant	-	NC_000001.11:g.162805416C>T	ExAC,gnomAD
rs372744996	p.Pro276Thr	missense variant	-	NC_000001.11:g.162805415C>A	ESP,ExAC,TOPMed,gnomAD
rs372744996	p.Pro276Ala	missense variant	-	NC_000001.11:g.162805415C>G	ESP,ExAC,TOPMed,gnomAD
rs1403221361	p.Glu277Ala	missense variant	-	NC_000001.11:g.162805419A>C	TOPMed
rs762426126	p.Leu282Val	missense variant	-	NC_000001.11:g.162805433C>G	ExAC,TOPMed,gnomAD
rs971861472	p.Ile283Met	missense variant	-	NC_000001.11:g.162805438C>G	TOPMed
rs1388895908	p.Ser287Ile	missense variant	-	NC_000001.11:g.162805449G>T	gnomAD
rs765822799	p.Ala288Pro	missense variant	-	NC_000001.11:g.162805451G>C	ExAC,TOPMed,gnomAD
rs1169679928	p.Thr289Ser	missense variant	-	NC_000001.11:g.162805455C>G	gnomAD
rs1456643454	p.Gly291Asp	missense variant	-	NC_000001.11:g.162805461G>A	gnomAD
rs1293164324	p.Gly293Ala	missense variant	-	NC_000001.11:g.162805467G>C	TOPMed,gnomAD
rs1391649170	p.Arg294Ile	missense variant	-	NC_000001.11:g.162805470G>T	gnomAD
rs751097341	p.Asn295Ile	missense variant	-	NC_000001.11:g.162805473A>T	ExAC,gnomAD
rs751097341	p.Asn295Ser	missense variant	-	NC_000001.11:g.162805473A>G	ExAC,gnomAD
rs1309979608	p.Met298Thr	missense variant	-	NC_000001.11:g.162805482T>C	gnomAD
rs764521164	p.Thr299Ser	missense variant	-	NC_000001.11:g.162805484A>T	ExAC,TOPMed,gnomAD
rs562732511	p.Asp305Asn	missense variant	-	NC_000001.11:g.162812307G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754342101	p.Asp305Val	missense variant	-	NC_000001.11:g.162812308A>T	ExAC,gnomAD
rs754342101	p.Asp305Gly	missense variant	-	NC_000001.11:g.162812308A>G	ExAC,gnomAD
rs1265768593	p.Thr308Ser	missense variant	-	NC_000001.11:g.162812317C>G	gnomAD
rs762407211	p.Ala309Thr	missense variant	-	NC_000001.11:g.162812319G>A	ExAC,TOPMed,gnomAD
rs1159848732	p.Glu310Asp	missense variant	-	NC_000001.11:g.162812324A>C	TOPMed
NCI-TCGA novel	p.Lys311Gln	missense variant	-	NC_000001.11:g.162812325A>C	NCI-TCGA
rs765659828	p.Phe312Leu	missense variant	-	NC_000001.11:g.162812330T>G	ExAC,TOPMed,gnomAD
rs750824430	p.Glu318Lys	missense variant	-	NC_000001.11:g.162812346G>A	ExAC,gnomAD
rs758636818	p.Glu318Asp	missense variant	-	NC_000001.11:g.162812348A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu319Pro	missense variant	-	NC_000001.11:g.162812350T>C	NCI-TCGA
rs2684875	p.Lys321Glu	missense variant	-	NC_000001.11:g.162812355A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1260712952	p.Ile323Phe	missense variant	-	NC_000001.11:g.162812361A>T	TOPMed
rs1476340891	p.Arg324Ser	missense variant	-	NC_000001.11:g.162812366G>C	gnomAD
rs878978992	p.Val325Ile	missense variant	-	NC_000001.11:g.162812367G>A	TOPMed,gnomAD
rs755056811	p.Ile327Val	missense variant	-	NC_000001.11:g.162812373A>G	ExAC,gnomAD
rs1445704473	p.Thr330Ser	missense variant	-	NC_000001.11:g.162812382A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Thr330AsnPheSerTerUnk	frameshift	-	NC_000001.11:g.162812376_162812377insA	NCI-TCGA
rs747982937	p.Asp331Asn	missense variant	-	NC_000001.11:g.162812385G>A	ExAC,gnomAD
rs201944635	p.Asn332His	missense variant	-	NC_000001.11:g.162812388A>C	ExAC,gnomAD
rs201944635	p.Asn332Asp	missense variant	-	NC_000001.11:g.162812388A>G	ExAC,gnomAD
rs777474508	p.Gln333Arg	missense variant	-	NC_000001.11:g.162812392A>G	ExAC,gnomAD
rs1344317510	p.Gly338Ser	missense variant	-	NC_000001.11:g.162812406G>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008497	Choriocarcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0014173	Endometrial Hyperplasia	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE;LHGDN
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0023418	leukemia	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE
C0031511	Pheochromocytoma	disease	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE;RGD
C0033375	Prolactinoma	disease	BEFREE
C0039585	Androgen-Insensitivity Syndrome	disease	BEFREE
C0040100	Thymoma	disease	BEFREE
C0040128	Thyroid Diseases	group	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0043459	Zellweger Syndrome	disease	BEFREE
C0206081	Hyperandrogenism	disease	BEFREE
C0206667	Adrenal Cortical Adenoma	disease	BEFREE
C0238395	Male Pseudohermaphroditism	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0338106	Adenocarcinoma of colon	disease	BEFREE
C0342541	Precocious pubarche	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0555232	pseudohermaphrodite (non-specific)	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677776	Hereditary Breast and Ovarian Cancer Syndrome	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686346	Gender Dysphoria	phenotype	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0848558	Hypospadias	group	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C1134719	Invasive Ductal Breast Carcinoma	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1176475	Ductal Carcinoma	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1336076	Sporadic Breast Carcinoma	disease	BEFREE
C1336905	Endometrial Endometrioid Adenocarcinoma	disease	BEFREE
C1368683	Epithelioma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1527349	Ductal Breast Carcinoma	disease	BEFREE
C1691215	Penile hypospadias	disease	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2751824	46, XY Disorders of Sex Development	group	BEFREE
C4048328	cervical cancer	disease	BEFREE
C4275179	Young onset Parkinson disease	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000253	3-keto sterol reductase activity	IBA
GO:0000253	3-keto sterol reductase activity	TAS
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006695	cholesterol biosynthetic process	IBA
GO:0006695	cholesterol biosynthetic process	TAS
GO:0006703	estrogen biosynthetic process	IEA
GO:0007399	nervous system development	IEA
GO:0030154	cell differentiation	IEA
GO:0048706	embryonic skeletal system development	IEA
GO:0055114	oxidation-reduction process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005783	endoplasmic reticulum	IBA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0005886	plasma membrane	IEA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-191273	Cholesterol biosynthesis	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-8957322	Metabolism of steroids	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of HSD17B7 mRNA	22698814
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of HSD17B7 mRNA	29432896
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of HSD17B7 mRNA	28801915
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of HSD17B7 mRNA	28329830
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of HSD17B7 mRNA	30723492
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [FSHB protein affects the expression of HSD17B7 mRNA]	19414516
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of HSD17B7 mRNA	19114083
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of HSD17B7 mRNA	28433925
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased methylation of HSD17B7 promoter	27663891
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of HSD17B7 mRNA	27663891
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of HSD17B7 protein	27663891
C023035	3,4,5,3',4'-pentachlorobiphenyl	3',4'-dimethoxyflavone inhibits the reaction [3,4,5,3',4'-pentachlorobiphenyl results in increased expression of HSD17B7 mRNA]	27663891
C023035	3,4,5,3',4'-pentachlorobiphenyl	3',4'-dimethoxyflavone inhibits the reaction [3,4,5,3',4'-pentachlorobiphenyl results in increased expression of HSD17B7 protein]	27663891
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of HSD17B7 mRNA	20959002
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of HSD17B7 mRNA	23196670
C014464	3,4-dichloroaniline	3,4-dichloroaniline results in decreased expression of HSD17B7 mRNA	24172598
C509288	3',4'-dimethoxyflavone	3',4'-dimethoxyflavone inhibits the reaction [3,4,5,3',4'-pentachlorobiphenyl results in increased expression of HSD17B7 mRNA]	27663891
C509288	3',4'-dimethoxyflavone	3',4'-dimethoxyflavone inhibits the reaction [3,4,5,3',4'-pentachlorobiphenyl results in increased expression of HSD17B7 protein]	27663891
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of HSD17B7 mRNA	18648102
C105260	4-tert-octylphenol	4-tert-octylphenol results in increased expression of HSD17B7 mRNA	17011747
C000595015	6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine results in increased expression of HSD17B7 mRNA	28073004
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of HSD17B7 mRNA	22079614
D000079	Acetaldehyde	Acetaldehyde affects the expression of HSD17B7 mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in decreased expression of HSD17B7 mRNA	29067470
C096064	actein	actein affects the expression of HSD17B7 mRNA	19527300
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of HSD17B7 mRNA	19770486
C000593263	afuresertib	afuresertib results in increased expression of HSD17B7 mRNA	28960945
D000616	Aminoglutethimide	Aminoglutethimide results in decreased expression of HSD17B7 mRNA	9231770
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of HSD17B7 mRNA	16483693
D000728	Androgens	Androgens deficiency results in increased expression of HSD17B7 mRNA	29367455
D000728	Androgens	Dihydrotestosterone inhibits the reaction [Androgens deficiency results in increased expression of HSD17B7 mRNA]	29367455
D000965	Antimony	Antimony results in decreased expression of HSD17B7 mRNA	17547211
D000966	Antimony Potassium Tartrate	Antimony Potassium Tartrate results in decreased expression of HSD17B7 mRNA	17547211
D001151	Arsenic	Arsenic affects the methylation of HSD17B7 gene	25304211
C015001	arsenite	arsenite results in increased expression of HSD17B7 mRNA	18991936
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of HSD17B7 mRNA	29523930
D001280	Atrazine	Atrazine results in decreased expression of HSD17B7 mRNA	25929836
D001548	Benzalkonium Compounds	Benzalkonium Compounds results in increased expression of HSD17B7 mRNA	31199489
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of HSD17B7 mRNA	26238291
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of HSD17B7 mRNA	22228805
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of HSD17B7 mRNA	26377693
D001576	Benzophenoneidum	Benzophenoneidum results in increased expression of HSD17B7 protein	28722353
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in decreased expression of HSD17B7 mRNA	22234961
D019324	beta-Naphthoflavone	AHR protein affects the reaction [beta-Naphthoflavone results in decreased expression of HSD17B7 mRNA]	22234961
C006780	bisphenol A	bisphenol A results in increased methylation of HSD17B7 exon	30906313
C006780	bisphenol A	bisphenol A affects the expression of HSD17B7 mRNA	30903817
C006780	bisphenol A	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of HSD17B7 mRNA	28433925
C006780	bisphenol A	bisphenol A affects the expression of HSD17B7 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of HSD17B7 mRNA	25181051; 30816183;
C584509	C646 compound	C646 compound results in increased expression of HSD17B7 mRNA	26191083
D002110	Caffeine	Caffeine results in decreased expression of HSD17B7 mRNA	20864626
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of HSD17B7 mRNA	29987408
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of HSD17B7 mRNA	31150632
C100187	chloropicrin	chloropicrin results in increased expression of HSD17B7 mRNA	26352163
D002737	Chloroprene	Chloroprene results in increased expression of HSD17B7 mRNA	23125180
D006063	Chorionic Gonadotropin	[Gonadotropins, Equine co-treated with Chorionic Gonadotropin] results in increased expression of HSD17B7 mRNA	15831568
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of HSD17B7 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of HSD17B7 mRNA	27392435; 27594783;
D002990	Clobetasol	Clobetasol results in increased expression of HSD17B7 mRNA	27462272
C018021	cobaltous chloride	cobaltous chloride results in increased expression of HSD17B7 mRNA	19376846
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of HSD17B7 mRNA	24386269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of HSD17B7 mRNA	19549813
D003471	Cuprizone	Cuprizone results in decreased expression of HSD17B7 mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in decreased expression of HSD17B7 mRNA	19770486
C093628	cyproconazole	cyproconazole affects the expression of HSD17B7 mRNA	22045034
D003907	Dexamethasone	Dexamethasone affects the expression of HSD17B7 mRNA	15102944
C016366	dibenzothiophene	dibenzothiophene results in decreased expression of HSD17B7 mRNA	23656968
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of HSD17B7 mRNA	17361019; 21266533;
D004041	Dietary Fats	Dietary Fats affects the expression of HSD17B7 mRNA	19680557
D004041	Dietary Fats	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of HSD17B7 mRNA	28433925
D004041	Dietary Fats	Dietary Fats results in decreased expression of HSD17B7 mRNA	22609946; 25016146; 30120929;
D019422	Dietary Sucrose	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of HSD17B7 mRNA	28433925
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of HSD17B7 mRNA	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of HSD17B7 mRNA	19850644
D004051	Diethylhexyl Phthalate	PPARA protein inhibits the reaction [Diethylhexyl Phthalate results in increased expression of HSD17B7 mRNA]	19850644
D004051	Diethylhexyl Phthalate	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of HSD17B7 mRNA	28433925
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of HSD17B7 mRNA	15728792
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of HSD17B7 mRNA	17011747
C115058	difenoconazole	difenoconazole results in increased expression of HSD17B7 mRNA	28263823
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of HSD17B7 mRNA	29458080
D013196	Dihydrotestosterone	Dihydrotestosterone inhibits the reaction [Androgens deficiency results in increased expression of HSD17B7 mRNA]	29367455
C025605	diisobutyl phthalate	diisobutyl phthalate results in increased expression of HSD17B7 mRNA	29458080
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of HSD17B7 mRNA	17547211
D004726	Endosulfan	Endosulfan affects the expression of HSD17B7 mRNA	29391264
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of HSD17B7 mRNA	29464035
D004958	Estradiol	Estradiol results in decreased expression of HSD17B7 mRNA	23019147
D004958	Estradiol	HSD17B7 protein affects the metabolism of Estradiol	16054388
D004958	Estradiol	HSD17B7 protein results in increased chemical synthesis of Estradiol	16054388
D004958	Estradiol	Estradiol results in increased expression of HSD17B7 mRNA	19693291
D004958	Estradiol	Estradiol results in increased expression of HSD17B7 mRNA	9231770
D004970	Estrone	HSD17B7 protein affects the metabolism of Estrone	16054388
D004970	Estrone	HSD17B7 protein results in increased chemical synthesis of Estrone	16054388
C002994	ethylene dimethanesulfonate	ethylene dimethanesulfonate results in decreased expression of HSD17B7 mRNA	22711419
C545733	fatostatin	fatostatin results in decreased expression of HSD17B7 mRNA	19716478
D005228	Fatty Acids, Essential	Fatty Acids, Essential deficiency results in increased expression of HSD17B7 mRNA	23333450
D005228	Fatty Acids, Essential	NR1H2 gene mutant form promotes the reaction [Fatty Acids, Essential deficiency results in increased expression of HSD17B7 mRNA]	23333450
D005228	Fatty Acids, Essential	NR1H3 gene mutant form promotes the reaction [Fatty Acids, Essential deficiency results in increased expression of HSD17B7 mRNA]	23333450
D017313	Fenretinide	Fenretinide results in decreased expression of HSD17B7 mRNA	28973697
D018120	Finasteride	Finasteride results in increased expression of HSD17B7 mRNA	24136188
C082360	fipronil	fipronil results in increased expression of HSD17B7 mRNA	27091632
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of HSD17B7 mRNA	28329830
C007738	fluoranthene	fluoranthene results in decreased expression of HSD17B7 mRNA	28329830
D005485	Flutamide	Flutamide results in increased expression of HSD17B7 mRNA	19299419
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of HSD17B7 mRNA	29432896
D005897	Glafenine	Glafenine results in increased expression of HSD17B7 mRNA	24136188
D006064	Gonadotropins, Equine	[Gonadotropins, Equine co-treated with Chorionic Gonadotropin] results in increased expression of HSD17B7 mRNA	15831568
C492448	ICG 001	ICG 001 results in increased expression of HSD17B7 mRNA	26191083
D007213	Indomethacin	Indomethacin results in increased expression of HSD17B7 mRNA	28201806
D015474	Isotretinoin	Isotretinoin results in decreased expression of HSD17B7 mRNA	20436886
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of HSD17B7 mRNA	27392435
C410337	K 7174	K 7174 results in decreased expression of HSD17B7 mRNA	24086573
D007654	Ketoconazole	Ketoconazole results in increased expression of HSD17B7 mRNA	28263823
C099406	L 742694	L 742694 affects the expression of HSD17B7 mRNA	15102944
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of HSD17B7 mRNA	27663891
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of HSD17B7 protein	27663891
D008731	Methoxychlor	Methoxychlor results in decreased expression of HSD17B7 mRNA	23303685
D008752	Methylene Chloride	Methylene Chloride affects the expression of HSD17B7 mRNA	28392392
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of HSD17B7 mRNA	23649840
D008777	Methyltestosterone	Methyltestosterone results in increased expression of HSD17B7 mRNA	29458080
D008825	Miconazole	Miconazole results in increased expression of HSD17B7 mRNA	27462272
C523799	MRK 003	MRK 003 results in decreased expression of HSD17B7 mRNA	21169257
D009249	NADP	NADP binds to and results in increased activity of HSD17B7 protein	25526675
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of HSD17B7 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of HSD17B7 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of HSD17B7 mRNA	25554681
D009538	Nicotine	Nicotine results in increased splicing of HSD17B7 mRNA alternative form	23825647
C464660	obeticholic acid	obeticholic acid results in decreased expression of HSD17B7 mRNA	27939613
D000073878	Palm Oil	Palm Oil affects the expression of HSD17B7 mRNA	19680557
C016030	pantogab	pantogab results in increased expression of HSD17B7 mRNA	17379144
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of HSD17B7 mRNA	29432896
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of HSD17B7 mRNA	18593933
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of HSD17B7 mRNA	29458080
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in increased expression of HSD17B7 mRNA	23602845
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of HSD17B7 protein	26879310
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of HSD17B7 mRNA	17681415
D010634	Phenobarbital	Phenobarbital results in decreased expression of HSD17B7 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in increased expression of HSD17B7 mRNA	19162173
D010840	Phytosterols	APOE gene mutant form affects the reaction [Phytosterols results in increased expression of HSD17B7 mRNA]	18155511
C006253	pirinixic acid	pirinixic acid results in increased expression of HSD17B7 mRNA	18301758; 20813756;
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of HSD17B7 mRNA	29432896
D059808	Polyphenols	Polyphenols results in decreased expression of HSD17B7 mRNA	16293270
C572919	PP242	PP242 results in decreased expression of HSD17B7 mRNA	30679557
D017035	Pravastatin	Pravastatin results in increased expression of HSD17B7 mRNA	27225895
C045950	propiconazole	propiconazole results in increased expression of HSD17B7 mRNA	28970091
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of HSD17B7 mRNA	24780913
C030984	pyrene	pyrene results in decreased expression of HSD17B7 mRNA	23656968
C502851	quinocetone	quinocetone results in increased expression of HSD17B7 mRNA	27046791
D000077185	Resveratrol	Resveratrol results in increased expression of HSD17B7 protein	25505154
D012312	Ritodrine	Ritodrine results in decreased expression of HSD17B7 mRNA	23370008
D000077154	Rosiglitazone	Rosiglitazone affects the expression of HSD17B7 mRNA	17245590
D012402	Rotenone	Rotenone results in increased expression of HSD17B7 mRNA	28374803
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of HSD17B7 mRNA	19073995
D012834	Silver	Silver results in decreased expression of HSD17B7 mRNA	27131904
D012906	Smoke	Smoke affects the expression of HSD17B7 mRNA	23693141
C009277	sodium arsenate	sodium arsenate results in increased expression of HSD17B7 mRNA	30953684
C017947	sodium arsenite	sodium arsenite affects the expression of HSD17B7 mRNA	16507464
D012999	Soman	Soman results in increased expression of HSD17B7 mRNA	19281266
D053260	Soot	Soot results in increased expression of HSD17B7 mRNA	22461453
C075117	squalestatin 1	squalestatin 1 results in increased expression of HSD17B7 mRNA	27225895
D000077210	Sunitinib	Sunitinib results in increased expression of HSD17B7 mRNA	31533062
C013698	tallow	tallow affects the expression of HSD17B7 mRNA	19680557
C087114	tebuconazole	tebuconazole results in increased expression of HSD17B7 mRNA	30458266
D013739	Testosterone	Testosterone results in increased expression of HSD17B7 mRNA	19693291
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of HSD17B7 mRNA	21802500
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of HSD17B7 mRNA	28433925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of HSD17B7 mRNA	28213091; 28922406;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of HSD17B7 mRNA	21215274
C009495	titanium dioxide	titanium dioxide results in increased expression of HSD17B7 mRNA	23557971; 27760801;
D014212	Tretinoin	Tretinoin results in decreased expression of HSD17B7 mRNA	23724009
D014260	Triclosan	Triclosan results in increased expression of HSD17B7 mRNA	29596926
D014260	Triclosan	Triclosan results in increased expression of HSD17B7 mRNA	30447264
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of HSD17B7 mRNA	26743178
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of HSD17B7 mRNA	26179874
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate results in decreased expression of HSD17B7 mRNA	29024780
D014520	Urethane	Urethane results in increased expression of HSD17B7 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased methylation of HSD17B7 gene	29154799
D014635	Valproic Acid	Valproic Acid results in decreased expression of HSD17B7 mRNA	22045034
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of HSD17B7 gene	25560391
C066632	yessotoxin	yessotoxin analog results in increased expression of HSD17B7 mRNA	30679557
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of HSD17B7 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0325	Glycoprotein
KW-0444	Lipid biosynthesis
KW-0443	Lipid metabolism
KW-0472	Membrane
KW-0520	NAD
KW-0521	NADP
KW-0560	Oxidoreductase
KW-1185	Reference proteome
KW-0752	Steroid biosynthesis
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR042829	HSD17B7
IPR036291	NAD(P)-bd_dom_sf
IPR002347	SDR_fam

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00106	adh_short

Gene: HSD17B7

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction