CleftGeneDB-Search

Gene: REG3A

Basic information

Tag	Content
Uniprot ID	Q06141
Entrez ID	5068
Genbank protein ID	BAA02728.1; AAA60020.1; AAH36776.1; AAA36415.1; AAB24642.1; CAA48605.1;
Genbank nucleotide ID	NM_138938.2; NM_002580.2; NM_138937.2;
Ensembl protein ID	ENSP00000386630; ENSP00000377456; ENSP00000304311;
Ensembl nucleotide ID	ENSG00000172016
Gene name	Regenerating islet-derived protein 3-alpha
Gene symbol	REG3A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Regulates keratinocyte proliferation and differentiation after skin injury via activation of EXTL3-PI3K-AKT signaling pathway.
Sequence	MLPPMALPSV SWMLLSCLML LSQVQGEEPQ RELPSARIRC PKGSKAYGSH CYALFLSPKS 60 WTDADLACQK RPSGNLVSVL SGAEGSFVSS LVKSIGNSYS YVWIGLHDPT QGTEPNGEGW 120 EWSSSDVMNY FAWERNPSTI SSPGHCASLS RSTAFLRWKD YNCNVRLPYV CKFTD 175

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

PDB ID
1UV0
2GO0
4MTH
2GO0

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
REG3A	c.149T>C; p.V509A	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Leu2Val	missense variant	-	NC_000002.12:g.79159402G>C	NCI-TCGA
COSM6092576	p.Leu2Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159401A>G	NCI-TCGA Cosmic
rs565734557	p.Pro3Leu	missense variant	-	NC_000002.12:g.79159398G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro4Ser	missense variant	-	NC_000002.12:g.79159396G>A	NCI-TCGA
rs1444246883	p.Met5Val	missense variant	-	NC_000002.12:g.79159393T>C	TOPMed
rs775648232	p.Met5Thr	missense variant	-	NC_000002.12:g.79159392A>G	ExAC,gnomAD
rs147363673	p.Ala6Val	missense variant	-	NC_000002.12:g.79159389G>A	TOPMed
COSM6159115	p.Ala6Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159389G>T	NCI-TCGA Cosmic
COSM6033202	p.Leu7Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159387G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro8Leu	missense variant	-	NC_000002.12:g.79159383G>A	NCI-TCGA
NCI-TCGA novel	p.Pro8Thr	missense variant	-	NC_000002.12:g.79159384G>T	NCI-TCGA
rs936615714	p.Pro8His	missense variant	-	NC_000002.12:g.79159383G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser9ValPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.79159382G>-	NCI-TCGA
rs1209152267	p.Val10Leu	missense variant	-	NC_000002.12:g.79159378C>A	gnomAD
NCI-TCGA novel	p.Ser11Tyr	missense variant	-	NC_000002.12:g.79159374G>T	NCI-TCGA
rs779530381	p.Ser11Thr	missense variant	-	NC_000002.12:g.79159375A>T	ExAC,TOPMed,gnomAD
rs547113093	p.Ser11Phe	missense variant	-	NC_000002.12:g.79159374G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779530381	p.Ser11Pro	missense variant	-	NC_000002.12:g.79159375A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp12Ter	stop gained	-	NC_000002.12:g.79159370C>T	NCI-TCGA
rs1339210084	p.Met13Ile	missense variant	-	NC_000002.12:g.79159367C>T	gnomAD
rs533239357	p.Met13Val	missense variant	-	NC_000002.12:g.79159369T>C	1000Genomes
rs780244740	p.Leu14Pro	missense variant	-	NC_000002.12:g.79159365A>G	ExAC,gnomAD
rs756356041	p.Leu15Ile	missense variant	-	NC_000002.12:g.79159363G>T	ExAC,TOPMed,gnomAD
rs756356041	p.Leu15Phe	missense variant	-	NC_000002.12:g.79159363G>A	ExAC,TOPMed,gnomAD
rs1370503388	p.Ser16Phe	missense variant	-	NC_000002.12:g.79159359G>A	TOPMed
rs1380521422	p.Met19Leu	missense variant	-	NC_000002.12:g.79159351T>G	gnomAD
rs1302690830	p.Leu20Gln	missense variant	-	NC_000002.12:g.79159347A>T	TOPMed,gnomAD
rs142625281	p.Ser22Cys	missense variant	-	NC_000002.12:g.79159341G>C	ESP,ExAC,TOPMed,gnomAD
rs372505618	p.Gln23Glu	missense variant	-	NC_000002.12:g.79159339G>C	ESP,gnomAD
rs1158606988	p.Gln23Arg	missense variant	-	NC_000002.12:g.79159338T>C	gnomAD
rs372505618	p.Gln23Ter	stop gained	-	NC_000002.12:g.79159339G>A	ESP,gnomAD
COSM6159117	p.Gln23Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159338T>A	NCI-TCGA Cosmic
rs115863131	p.Gln23His	missense variant	-	NC_000002.12:g.79159337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4095898	p.Val24Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159336C>A	NCI-TCGA Cosmic
rs767560114	p.Gln25His	missense variant	-	NC_000002.12:g.79159331T>G	TOPMed,gnomAD
rs544174610	p.Gly26Ser	missense variant	-	NC_000002.12:g.79159330C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu27GlyPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.79158753_79158766CCTCTGGGGTTCTT>-	NCI-TCGA
rs1488498588	p.Glu27Lys	missense variant	-	NC_000002.12:g.79158767C>T	gnomAD
rs775928429	p.Glu28Gln	missense variant	-	NC_000002.12:g.79158764C>G	ExAC,gnomAD
rs775928429	p.Glu28Ter	stop gained	-	NC_000002.12:g.79158764C>A	ExAC,gnomAD
rs558734956	p.Pro29Thr	missense variant	-	NC_000002.12:g.79158761G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374191223	p.Pro29Leu	missense variant	-	NC_000002.12:g.79158760G>A	ESP,ExAC,TOPMed,gnomAD
COSM3583546	p.Pro29Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158761G>A	NCI-TCGA Cosmic
rs781494401	p.Gln30His	missense variant	-	NC_000002.12:g.79158756C>A	ExAC,gnomAD
COSM722336	p.Gln30Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158758G>C	NCI-TCGA Cosmic
rs757491659	p.Arg31Lys	missense variant	-	NC_000002.12:g.79158754C>T	ExAC,gnomAD
rs747243184	p.Arg31Ser	missense variant	-	NC_000002.12:g.79158753C>A	ExAC,TOPMed
rs1334210991	p.Glu32Lys	missense variant	-	NC_000002.12:g.79158752C>T	gnomAD
COSM722337	p.Pro34Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158745G>C	NCI-TCGA Cosmic
rs778024360	p.Ser35Phe	missense variant	-	NC_000002.12:g.79158742G>A	ExAC,TOPMed,gnomAD
rs879246680	p.Ala36Pro	missense variant	-	NC_000002.12:g.79158740C>G	gnomAD
rs758470629	p.Ala36Gly	missense variant	-	NC_000002.12:g.79158739G>C	ExAC,gnomAD
rs879246680	p.Ala36Thr	missense variant	-	NC_000002.12:g.79158740C>T	gnomAD
rs538408283	p.Arg37Gly	missense variant	-	NC_000002.12:g.79158737G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs538408283	p.Arg37Trp	missense variant	-	NC_000002.12:g.79158737G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138199548	p.Arg37Leu	missense variant	-	NC_000002.12:g.79158736C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138199548	p.Arg37Gln	missense variant	-	NC_000002.12:g.79158736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs190379872	p.Ile38Asn	missense variant	-	NC_000002.12:g.79158733A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs190379872	p.Ile38Ser	missense variant	-	NC_000002.12:g.79158733A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs139201953	p.Arg39His	missense variant	-	NC_000002.12:g.79158730C>T	ESP,ExAC,TOPMed,gnomAD
rs141740162	p.Arg39Ser	missense variant	-	NC_000002.12:g.79158731G>T	ExAC,TOPMed,gnomAD
rs141740162	p.Arg39Cys	missense variant	-	NC_000002.12:g.79158731G>A	ExAC,TOPMed,gnomAD
COSM722338	p.Cys40Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158727C>A	NCI-TCGA Cosmic
rs762429049	p.Pro41Leu	missense variant	-	NC_000002.12:g.79158724G>A	ExAC,gnomAD
rs1322129314	p.Lys42Glu	missense variant	-	NC_000002.12:g.79158722T>C	TOPMed
NCI-TCGA novel	p.Gly43Cys	missense variant	-	NC_000002.12:g.79158719C>A	NCI-TCGA
NCI-TCGA novel	p.Gly43Val	missense variant	-	NC_000002.12:g.79158718C>A	NCI-TCGA
rs1446622924	p.Gly43Ala	missense variant	-	NC_000002.12:g.79158718C>G	TOPMed
rs774925348	p.Gly43Ser	missense variant	-	NC_000002.12:g.79158719C>T	ExAC,TOPMed,gnomAD
rs1451859704	p.Ser44Phe	missense variant	-	NC_000002.12:g.79158715G>A	TOPMed,gnomAD
rs770292081	p.Ser44Thr	missense variant	-	NC_000002.12:g.79158716A>T	ExAC,gnomAD
rs1451859704	p.Ser44Cys	missense variant	-	NC_000002.12:g.79158715G>C	TOPMed,gnomAD
rs1230408336	p.Lys45Met	missense variant	-	NC_000002.12:g.79158712T>A	TOPMed
COSM722339	p.Lys45Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158711C>A	NCI-TCGA Cosmic
rs771324295	p.Ala46Thr	missense variant	-	NC_000002.12:g.79158710C>T	ExAC,gnomAD
rs1294222630	p.Ala46Val	missense variant	-	NC_000002.12:g.79158709G>A	TOPMed
COSM6159118	p.Ala46Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158709G>T	NCI-TCGA Cosmic
rs960792179	p.Gly48Val	missense variant	-	NC_000002.12:g.79158703C>A	-
rs1328904894	p.Gly48Arg	missense variant	-	NC_000002.12:g.79158704C>G	TOPMed
rs1226859955	p.Ser49Phe	missense variant	-	NC_000002.12:g.79158700G>A	TOPMed
NCI-TCGA novel	p.His50Tyr	missense variant	-	NC_000002.12:g.79158698G>A	NCI-TCGA
NCI-TCGA novel	p.His50Gln	missense variant	-	NC_000002.12:g.79158696G>T	NCI-TCGA
rs201139260	p.His50Pro	missense variant	-	NC_000002.12:g.79158697T>G	ExAC,TOPMed,gnomAD
rs747395684	p.His50Asp	missense variant	-	NC_000002.12:g.79158698G>C	ExAC,gnomAD
COSM267955	p.His50Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158698G>T	NCI-TCGA Cosmic
rs772275781	p.Cys51Arg	missense variant	-	NC_000002.12:g.79158695A>G	ExAC,TOPMed,gnomAD
rs772275781	p.Cys51Ser	missense variant	-	NC_000002.12:g.79158695A>T	ExAC,TOPMed,gnomAD
rs1281522343	p.Leu54Phe	missense variant	-	NC_000002.12:g.79158684C>G	gnomAD
rs1281522343	p.Leu54Phe	missense variant	-	NC_000002.12:g.79158684C>A	gnomAD
rs1330740608	p.Leu54Met	missense variant	-	NC_000002.12:g.79158686A>T	gnomAD
NCI-TCGA novel	p.Phe55Tyr	missense variant	-	NC_000002.12:g.79158682A>T	NCI-TCGA
NCI-TCGA novel	p.Phe55Leu	missense variant	-	NC_000002.12:g.79158683A>G	NCI-TCGA
rs1342300516	p.Phe55Leu	missense variant	-	NC_000002.12:g.79158681A>C	gnomAD
rs748177286	p.Phe55Ile	missense variant	-	NC_000002.12:g.79158683A>T	ExAC,gnomAD
rs1399918229	p.Lys59Asn	missense variant	-	NC_000002.12:g.79158669T>A	gnomAD
NCI-TCGA novel	p.Ser60Tyr	missense variant	-	NC_000002.12:g.79158667G>T	NCI-TCGA
rs779093650	p.Ser60Phe	missense variant	-	NC_000002.12:g.79158667G>A	ExAC,gnomAD
rs961991836	p.Trp61Ter	stop gained	-	NC_000002.12:g.79158663C>T	TOPMed
rs77686105	p.Thr62Ile	missense variant	-	NC_000002.12:g.79158661G>A	ExAC,TOPMed,gnomAD
rs185222126	p.Asp63Tyr	missense variant	-	NC_000002.12:g.79158659C>A	1000Genomes
NCI-TCGA novel	p.Ala64Pro	missense variant	-	NC_000002.12:g.79158656C>G	NCI-TCGA
COSM6092578	p.Ala64Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158655G>A	NCI-TCGA Cosmic
rs10169162	p.Asp65Glu	missense variant	-	NC_000002.12:g.79158651A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781248357	p.Asp65Asn	missense variant	-	NC_000002.12:g.79158653C>T	ExAC,TOPMed,gnomAD
rs1444540912	p.Ala67Thr	missense variant	-	NC_000002.12:g.79158460C>T	TOPMed,gnomAD
rs1191683456	p.Cys68Arg	missense variant	-	NC_000002.12:g.79158457A>G	TOPMed,gnomAD
rs1191683456	p.Cys68Ser	missense variant	-	NC_000002.12:g.79158457A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln69ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.79158454G>-	NCI-TCGA
COSM722341	p.Gln69Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158453T>C	NCI-TCGA Cosmic
rs538840781	p.Arg71Trp	missense variant	-	NC_000002.12:g.79158448G>A	ExAC,gnomAD
rs372677110	p.Arg71Gln	missense variant	-	NC_000002.12:g.79158447C>T	ESP,ExAC,TOPMed,gnomAD
rs372677110	p.Arg71Leu	missense variant	-	NC_000002.12:g.79158447C>A	ESP,ExAC,TOPMed,gnomAD
rs1202559849	p.Pro72Ser	missense variant	-	NC_000002.12:g.79158445G>A	gnomAD
COSM722342	p.Pro72His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158444G>T	NCI-TCGA Cosmic
rs918038567	p.Ser73Phe	missense variant	-	NC_000002.12:g.79158441G>A	TOPMed
rs865897000	p.Gly74Glu	missense variant	-	NC_000002.12:g.79158438C>T	gnomAD
rs778546234	p.Asn75Lys	missense variant	-	NC_000002.12:g.79158434G>T	ExAC,TOPMed,gnomAD
rs754554463	p.Ser78Pro	missense variant	-	NC_000002.12:g.79158427A>G	ExAC,gnomAD
rs765861996	p.Leu80Phe	missense variant	-	NC_000002.12:g.79158421G>A	ExAC,gnomAD
rs765861996	p.Leu80Ile	missense variant	-	NC_000002.12:g.79158421G>T	ExAC,gnomAD
rs1278552938	p.Leu80Arg	missense variant	-	NC_000002.12:g.79158420A>C	gnomAD
NCI-TCGA novel	p.Ser81Ile	missense variant	-	NC_000002.12:g.79158417C>A	NCI-TCGA
rs755559938	p.Ser81Arg	missense variant	-	NC_000002.12:g.79158416A>C	ExAC,gnomAD
rs190335034	p.Gly82Val	missense variant	-	NC_000002.12:g.79158414C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs190335034	p.Gly82Glu	missense variant	-	NC_000002.12:g.79158414C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM6159121	p.Gly82Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158415C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala83Pro	missense variant	-	NC_000002.12:g.79158412C>G	NCI-TCGA
rs746972535	p.Ala83Ser	missense variant	-	NC_000002.12:g.79158412C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly85Glu	missense variant	-	NC_000002.12:g.79158405C>T	NCI-TCGA
COSM722345	p.Gly85Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.79158406C>A	NCI-TCGA Cosmic
COSM6092579	p.Gly85Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158406C>T	NCI-TCGA Cosmic
rs764419758	p.Val88Met	missense variant	-	NC_000002.12:g.79158397C>T	ExAC,gnomAD
rs1175749117	p.Ser89Pro	missense variant	-	NC_000002.12:g.79158394A>G	gnomAD
COSM5429617	p.Ser90Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158390G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu91ArgPheSerTerUnk	frameshift	-	NC_000002.12:g.79158387A>-	NCI-TCGA
NCI-TCGA novel	p.Leu91Met	missense variant	-	NC_000002.12:g.79158388G>T	NCI-TCGA
rs868611127	p.Lys93Arg	missense variant	-	NC_000002.12:g.79158381T>C	TOPMed,gnomAD
rs938253452	p.Ser94Asn	missense variant	-	NC_000002.12:g.79158378C>T	TOPMed
rs775456518	p.Ile95Val	missense variant	-	NC_000002.12:g.79158376T>C	ExAC,gnomAD
rs767916040	p.Gly96Ser	missense variant	-	NC_000002.12:g.79158373C>T	ExAC,TOPMed,gnomAD
COSM6092580	p.Gly96Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158372C>G	NCI-TCGA Cosmic
COSM722346	p.Asn97Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158368G>C	NCI-TCGA Cosmic
rs745928990	p.Ser98Arg	missense variant	-	NC_000002.12:g.79158365G>C	ExAC,gnomAD
rs773255584	p.Tyr99His	missense variant	-	NC_000002.12:g.79158364A>G	ExAC
NCI-TCGA novel	p.Tyr101His	missense variant	-	NC_000002.12:g.79158358A>G	NCI-TCGA
rs771935417	p.Tyr101Asn	missense variant	-	NC_000002.12:g.79158358A>T	ExAC,TOPMed,gnomAD
rs199992892	p.Val102Ile	missense variant	-	NC_000002.12:g.79158355C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754646366	p.Ile104Met	missense variant	-	NC_000002.12:g.79158347A>C	ExAC,gnomAD
rs141838256	p.Ile104Thr	missense variant	-	NC_000002.12:g.79158348A>G	ESP,ExAC,TOPMed,gnomAD
rs201022623	p.Gly105Glu	missense variant	-	NC_000002.12:g.79158345C>T	1000Genomes
NCI-TCGA novel	p.Gly105Val	missense variant	-	NC_000002.12:g.79158345C>A	NCI-TCGA
rs1403718609	p.Leu106Phe	missense variant	-	NC_000002.12:g.79158343G>A	gnomAD
rs11554092	p.His107Tyr	missense variant	-	NC_000002.12:g.79158340G>A	-
COSM5615131	p.His107Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158340G>C	NCI-TCGA Cosmic
rs779543410	p.Pro109Leu	missense variant	-	NC_000002.12:g.79158333G>A	ExAC,gnomAD
rs749016320	p.Pro109Ser	missense variant	-	NC_000002.12:g.79158334G>A	ExAC,TOPMed,gnomAD
COSM6159122	p.Pro109Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158333G>C	NCI-TCGA Cosmic
COSM722348	p.Pro109Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158334G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr110Lys	missense variant	-	NC_000002.12:g.79158330G>T	NCI-TCGA
rs755718299	p.Gln111His	missense variant	-	NC_000002.12:g.79158326C>G	ExAC,TOPMed,gnomAD
COSM323025	p.Gln111Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158328G>T	NCI-TCGA Cosmic
rs921025329	p.Glu114Asp	missense variant	-	NC_000002.12:g.79157690C>A	TOPMed,gnomAD
rs372756064	p.Glu114Lys	missense variant	-	NC_000002.12:g.79157692C>T	ESP,ExAC,TOPMed,gnomAD
rs758852073	p.Asn116Ser	missense variant	-	NC_000002.12:g.79157685T>C	ExAC,TOPMed,gnomAD
rs752943154	p.Gly117Ala	missense variant	-	NC_000002.12:g.79157682C>G	ExAC,gnomAD
rs752943154	p.Gly117Glu	missense variant	-	NC_000002.12:g.79157682C>T	ExAC,gnomAD
rs962538834	p.Glu118Asp	missense variant	-	NC_000002.12:g.79157678T>A	TOPMed,gnomAD
COSM1532755	p.Glu118Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157680C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly119Cys	missense variant	-	NC_000002.12:g.79157677C>A	NCI-TCGA
NCI-TCGA novel	p.Trp120Ser	missense variant	-	NC_000002.12:g.79157673C>G	NCI-TCGA
COSM6159124	p.Trp120Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157672C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser123Arg	missense variant	-	NC_000002.12:g.79157663A>T	NCI-TCGA
rs1336451112	p.Ser123Ile	missense variant	-	NC_000002.12:g.79157664C>A	TOPMed,gnomAD
rs759637207	p.Ser124Asn	missense variant	-	NC_000002.12:g.79157661C>T	ExAC,gnomAD
rs1355287546	p.Ser124Gly	missense variant	-	NC_000002.12:g.79157662T>C	TOPMed
COSM576168	p.Ser124Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157661C>A	NCI-TCGA Cosmic
rs1440276901	p.Ser125Thr	missense variant	-	NC_000002.12:g.79157658C>G	TOPMed
COSM6092213	p.Ser125Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157658C>A	NCI-TCGA Cosmic
rs1176214554	p.Asp126Gly	missense variant	-	NC_000002.12:g.79157655T>C	gnomAD
rs753973300	p.Val127Met	missense variant	-	NC_000002.12:g.79157653C>T	ExAC,gnomAD
COSM722350	p.Val127Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157653C>A	NCI-TCGA Cosmic
rs1298833663	p.Met128Leu	missense variant	-	NC_000002.12:g.79157650T>A	gnomAD
COSM3910694	p.Met128Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157648C>T	NCI-TCGA Cosmic
rs766492988	p.Asn129Thr	missense variant	-	NC_000002.12:g.79157646T>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr130Cys	missense variant	-	NC_000002.12:g.79157643T>C	NCI-TCGA
rs760712859	p.Tyr130His	missense variant	-	NC_000002.12:g.79157644A>G	ExAC,TOPMed,gnomAD
rs150496065	p.Phe131Leu	missense variant	-	NC_000002.12:g.79157641A>G	ESP,ExAC,TOPMed,gnomAD
rs768568662	p.Phe131Ser	missense variant	-	NC_000002.12:g.79157640A>G	ExAC,TOPMed,gnomAD
rs1442404983	p.Trp133Ter	stop gained	-	NC_000002.12:g.79157633C>T	TOPMed,gnomAD
rs199733463	p.Trp133Arg	missense variant	-	NC_000002.12:g.79157635A>G	gnomAD
COSM576171	p.Trp133Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157634C>A	NCI-TCGA Cosmic
rs1239541266	p.Glu134Lys	missense variant	-	NC_000002.12:g.79157632C>T	gnomAD
COSM3910693	p.Arg135Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157628C>T	NCI-TCGA Cosmic
rs199647531	p.Asn136Ser	missense variant	-	NC_000002.12:g.79157625T>C	1000Genomes
COSM443258	p.Asn136Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157626T>A	NCI-TCGA Cosmic
rs200652760	p.Pro137Ser	missense variant	-	NC_000002.12:g.79157623G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200652760	p.Pro137Ala	missense variant	-	NC_000002.12:g.79157623G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM6158760	p.Ser138Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157619G>T	NCI-TCGA Cosmic
rs780972303	p.Thr139Ala	missense variant	-	NC_000002.12:g.79157617T>C	ExAC,gnomAD
rs746501690	p.Ser141Leu	missense variant	-	NC_000002.12:g.79157610G>A	ExAC,TOPMed,gnomAD
rs746501690	p.Ser141Ter	stop gained	-	NC_000002.12:g.79157610G>C	ExAC,TOPMed,gnomAD
rs758760547	p.Ser142Arg	missense variant	-	NC_000002.12:g.79157606G>T	ExAC,gnomAD
COSM6158761	p.Ser142Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157606G>C	NCI-TCGA Cosmic
rs201428369	p.Pro143Leu	missense variant	-	NC_000002.12:g.79157604G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753136032	p.Pro143Ser	missense variant	-	NC_000002.12:g.79157605G>A	ExAC,TOPMed,gnomAD
rs199786695	p.Gly144Ser	missense variant	-	NC_000002.12:g.79157602C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His145Gln	missense variant	-	NC_000002.12:g.79157597G>T	NCI-TCGA
rs1372971620	p.His145Arg	missense variant	-	NC_000002.12:g.79157598T>C	TOPMed
rs766585040	p.Cys146Trp	missense variant	-	NC_000002.12:g.79157594A>C	ExAC,gnomAD
rs146653158	p.Ala147Gly	missense variant	-	NC_000002.12:g.79157592G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs146653158	p.Ala147Val	missense variant	-	NC_000002.12:g.79157592G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762763582	p.Ser148Asn	missense variant	-	NC_000002.12:g.79157589C>T	ExAC,TOPMed,gnomAD
rs775380448	p.Ser148Arg	missense variant	-	NC_000002.12:g.79157588G>T	ExAC,TOPMed,gnomAD
rs1014018274	p.Leu149Gln	missense variant	-	NC_000002.12:g.79157586A>T	TOPMed
rs1048512257	p.Ser150Leu	missense variant	-	NC_000002.12:g.79157583G>A	gnomAD
COSM722351	p.Arg151Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157580C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser152Asn	missense variant	-	NC_000002.12:g.79157577C>T	NCI-TCGA
NCI-TCGA novel	p.Thr153Lys	missense variant	-	NC_000002.12:g.79157574G>T	NCI-TCGA
rs929798292	p.Leu156Arg	missense variant	-	NC_000002.12:g.79157287A>C	TOPMed
NCI-TCGA novel	p.Arg157Ser	missense variant	-	NC_000002.12:g.79157283C>G	NCI-TCGA
NCI-TCGA novel	p.Arg157Met	missense variant	-	NC_000002.12:g.79157284C>A	NCI-TCGA
NCI-TCGA novel	p.Trp158Cys	missense variant	-	NC_000002.12:g.79157280C>A	NCI-TCGA
NCI-TCGA novel	p.Trp158Cys	missense variant	-	NC_000002.12:g.79157280C>G	NCI-TCGA
COSM3583541	p.Trp158Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.79157281C>T	NCI-TCGA Cosmic
rs926835992	p.Asp160Tyr	missense variant	-	NC_000002.12:g.79157276C>A	-
rs1382366550	p.Tyr161Cys	missense variant	-	NC_000002.12:g.79157272T>C	gnomAD
rs544569659	p.Tyr161His	missense variant	-	NC_000002.12:g.79157273A>G	1000Genomes,ExAC,gnomAD
rs1469966482	p.Val165Leu	missense variant	-	NC_000002.12:g.79157261C>A	gnomAD
rs199719324	p.Arg166Trp	missense variant	-	NC_000002.12:g.79157258T>A	ESP,ExAC,TOPMed,gnomAD
COSM443257	p.Arg166Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157257C>G	NCI-TCGA Cosmic
rs760354285	p.Tyr169Cys	missense variant	-	NC_000002.12:g.79157248T>C	ExAC,gnomAD
rs747687128	p.Cys171Trp	missense variant	-	NC_000002.12:g.79157241G>C	ExAC,gnomAD
rs145613581	p.Thr174Ile	missense variant	-	NC_000002.12:g.79157233G>A	ESP,ExAC,TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001339	Acute pancreatitis	disease	BEFREE;RGD
C0001430	Adenoma	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0007868	Cervical dysplasia	disease	BEFREE
C0009319	Colitis	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0010674	Cystic Fibrosis	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	RGD
C0015230	Exanthema	phenotype	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0018133	Graft-vs-Host Disease	disease	BEFREE
C0019163	Hepatitis B	disease	BEFREE
C0023787	Lipodystrophy	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0025202	melanoma	disease	BEFREE
C0028754	Obesity	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030286	Pancreatic Diseases	group	BEFREE
C0030305	Pancreatitis	disease	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0032285	Pneumonia	disease	RGD
C0033860	Psoriasis	disease	BEFREE
C0034050	Pulmonary Alveolar Proteinosis	disease	BEFREE
C0034186	Pyelonephritis	disease	BEFREE
C0035078	Kidney Failure	disease	BEFREE
C0039585	Androgen-Insensitivity Syndrome	disease	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0085605	Liver Failure	disease	LHGDN
C0149521	Pancreatitis, Chronic	disease	BEFREE
C0149940	Sciatic Neuropathy	disease	RGD
C0206624	Hepatoblastoma	disease	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238339	Hereditary pancreatitis	disease	BEFREE
C0270824	Visual seizure	disease	RGD
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0334276	Adenocarcinoma in Situ	phenotype	BEFREE
C0339525	Autosomal dominant retinitis pigmentosa	disease	BEFREE
C0343401	MRSA - Methicillin resistant Staphylococcus aureus infection	disease	BEFREE
C0343641	Human papilloma virus infection	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376670	Pancreatitis, Alcoholic	disease	BEFREE
C0520575	Acute pyelonephritis	disease	BEFREE
C0521158	Recurrent tumor	phenotype	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0700138	PANCREAS EXOCRINE	disease	BEFREE
C0867389	Chronic graft-versus-host disease	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1867300	RETINITIS PIGMENTOSA 9	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2718067	Alcoholic Steatohepatitis	disease	BEFREE
C3501843	Non-medullary thyroid carcinoma	disease	BEFREE
C3714542	Lymphoma, Diffuse	disease	BEFREE
C4048328	cervical cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0030246	carbohydrate binding	TAS
GO:0038023	signaling receptor activity	IBA
GO:0042802	identical protein binding	IPI
GO:0042834	peptidoglycan binding	IBA
GO:0070492	oligosaccharide binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006953	acute-phase response	IEA
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	TAS
GO:0008284	positive regulation of cell population proliferation	IBA
GO:0010838	positive regulation of keratinocyte proliferation	ISS
GO:0019730	antimicrobial humoral response	TAS
GO:0043434	response to peptide hormone	IBA
GO:0044278	cell wall disruption in other organism	IBA
GO:0045617	negative regulation of keratinocyte differentiation	ISS
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IBA
GO:0090303	positive regulation of wound healing	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IBA
GO:0005737	cytoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-6803157	Antimicrobial peptides	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C034214	5-iodotubercidin	5-iodotubercidin results in decreased expression of REG3A mRNA	26953159
D000082	Acetaminophen	Acetaminophen affects the expression of REG3A mRNA	17562736
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of REG3A mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of REG3A mRNA	24449571
C006780	bisphenol A	bisphenol A results in decreased expression of REG3A mRNA	29161229
C006780	bisphenol A	bisphenol A results in increased expression of REG3A mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in increased expression of REG3A mRNA	26079696
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of REG3A mRNA	28472532
D003300	Copper	Copper deficiency results in increased expression of REG3A mRNA	26033743
D003474	Curcumin	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of REG3A mRNA]	18200517
D003520	Cyclophosphamide	Cyclophosphamide results in increased expression of REG3A mRNA	15331540
D004041	Dietary Fats	Dietary Fats results in decreased expression of REG3A mRNA	18457598
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of REG3A mRNA	26033743
D004317	Doxorubicin	Doxorubicin results in decreased expression of REG3A mRNA	29803840
D005419	Flavonoids	Flavonoids results in increased expression of REG3A mRNA	18035473
C039281	furan	furan results in increased expression of REG3A mRNA	27387713
C056507	gemcitabine	gemcitabine results in decreased expression of REG3A mRNA	16570353
D019833	Genistein	[Genistein co-treated with Methoxychlor] results in increased expression of REG3A mRNA	21782745
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of REG3A mRNA	27339419
D008731	Methoxychlor	[Genistein co-treated with Methoxychlor] results in increased expression of REG3A mRNA	21782745
D008731	Methoxychlor	Methoxychlor results in increased expression of REG3A mRNA	21782745
C031721	naphthalene	naphthalene analog results in increased expression of REG3A mRNA	24976557
C028007	nickel monoxide	nickel monoxide results in decreased expression of REG3A mRNA	19167457
C006253	pirinixic acid	pirinixic acid results in increased expression of REG3A mRNA	17426115
D000077185	Resveratrol	Resveratrol results in decreased expression of REG3A mRNA	19228061
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of REG3A mRNA	26377647
D014302	Trinitrobenzenesulfonic Acid	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of REG3A mRNA]	18200517
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of REG3A mRNA	18200517
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of REG3A mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0011	Acute phase
KW-0929	Antimicrobial
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0395	Inflammatory response
KW-0430	Lectin
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR001304	C-type_lectin-like
IPR016186	C-type_lectin-like/link_sf
IPR018378	C-type_lectin_CS
IPR016187	CTDL_fold

PROSITE

PROSITE ID	PROSITE Term
PS00615	C_TYPE_LECTIN_1
PS50041	C_TYPE_LECTIN_2

Pfam

Pfam ID	Pfam Term
PF00059	Lectin_C

Gene: REG3A

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

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

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