CleftGeneDB-Search

Gene: GDF11

Basic information

Tag	Content
Uniprot ID	O95390; Q9UID1; Q9UID2;
Entrez ID	10220
Genbank protein ID	AAC72852.1; AAF21631.1; AAF21630.1;
Genbank nucleotide ID	NM_005811.4; XM_006719194.3;
Ensembl protein ID	ENSP00000257868
Ensembl nucleotide ID	ENSG00000135414
Gene name	Growth/differentiation factor 11
Gene symbol	GDF11
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern (By similarity). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634).
Sequence	MVLAAPLLLG FLLLALELRP RGEAAEGPAA AAAAAAAAAA AGVGGERSSR PAPSVAPEPD 60 GCPVCVWRQH SRELRLESIK SQILSKLRLK EAPNISREVV KQLLPKAPPL QQILDLHDFQ 120 GDALQPEDFL EEDEYHATTE TVISMAQETD PAVQTDGSPL CCHFHFSPKV MFTKVLKAQL 180 WVYLRPVPRP ATVYLQILRL KPLTGEGTAG GGGGGRRHIR IRSLKIELHS RSGHWQSIDF 240 KQVLHSWFRQ PQSNWGIEIN AFDPSGTDLA VTSLGPGAEG LHPFMELRVL ENTKRSRRNL 300 GLDCDEHSSE SRCCRYPLTV DFEAFGWDWI IAPKRYKANY CSGQCEYMFM QKYPHTHLVQ 360 QANPRGSAGP CCTPTKMSPI NMLYFNDKQQ IIYGKIPGMV VDRCGCS 407

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
5E4G
5JHW
5UHM
6MAC
5E4G
5JHW
5UHM

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GDF11		J9NYK9		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GDF11	102178704	A0A452DM24		Capra hircus	Prediction	More>>
1:1 ortholog	GDF11	10220	O95390		Homo sapiens	Prediction	More>>
1:1 ortholog	Gdf11	14561	Q9Z1W4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GDF11	451970	H2Q663		Pan troglodytes	Prediction	More>>
1:1 ortholog	GDF11		F1SPJ6		Sus scrofa	Prediction	More>>
1:1 ortholog	Gdf11	29454	Q9Z217		Rattus norvegicus	Prediction	More>>
1:1 ortholog	gdf11	406247	Q8JFP9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1369091205	p.Leu3Phe	missense variant	-	NC_000012.12:g.55743323C>T	gnomAD
rs1433975173	p.Ala15Thr	missense variant	-	NC_000012.12:g.55743359G>A	TOPMed,gnomAD
rs1433975173	p.Ala15Ser	missense variant	-	NC_000012.12:g.55743359G>T	TOPMed,gnomAD
rs1211157011	p.Arg19Trp	missense variant	-	NC_000012.12:g.55743371C>T	TOPMed,gnomAD
rs1211157011	p.Arg19Gly	missense variant	-	NC_000012.12:g.55743371C>G	TOPMed,gnomAD
rs1263301466	p.Pro20Ser	missense variant	-	NC_000012.12:g.55743374C>T	TOPMed
rs1218117430	p.Arg21Pro	missense variant	-	NC_000012.12:g.55743378G>C	TOPMed
rs937069224	p.Gly22Arg	missense variant	-	NC_000012.12:g.55743380G>A	TOPMed,gnomAD
rs937069224	p.Gly22Trp	missense variant	-	NC_000012.12:g.55743380G>T	TOPMed,gnomAD
rs1048748827	p.Gly22Val	missense variant	-	NC_000012.12:g.55743381G>T	TOPMed
rs1048748827	p.Gly22Glu	missense variant	-	NC_000012.12:g.55743381G>A	TOPMed
rs1270644999	p.Ala34Pro	missense variant	-	NC_000012.12:g.55743416G>C	TOPMed
rs1259904789	p.Ala35Thr	missense variant	-	NC_000012.12:g.55743419G>A	TOPMed
rs1461317735	p.Ala39Thr	missense variant	-	NC_000012.12:g.55743431G>A	TOPMed
rs1248714439	p.Gly42Ala	missense variant	-	NC_000012.12:g.55743441G>C	TOPMed,gnomAD
rs1248714439	p.Gly42Val	missense variant	-	NC_000012.12:g.55743441G>T	TOPMed,gnomAD
rs1248714439	p.Gly42Glu	missense variant	-	NC_000012.12:g.55743441G>A	TOPMed,gnomAD
rs753797482	p.Val43Gly	missense variant	-	NC_000012.12:g.55743444T>G	ExAC,TOPMed,gnomAD
rs1477069156	p.Val43Ile	missense variant	-	NC_000012.12:g.55743443G>A	gnomAD
rs753797482	p.Val43Ala	missense variant	-	NC_000012.12:g.55743444T>C	ExAC,TOPMed,gnomAD
rs759677658	p.Gly44Ala	missense variant	-	NC_000012.12:g.55743447G>C	ExAC,TOPMed,gnomAD
rs759677658	p.Gly44Val	missense variant	-	NC_000012.12:g.55743447G>T	ExAC,TOPMed,gnomAD
rs1399960561	p.Gly45Glu	missense variant	-	NC_000012.12:g.55743450G>A	TOPMed,gnomAD
rs1399960561	p.Gly45Val	missense variant	-	NC_000012.12:g.55743450G>T	TOPMed,gnomAD
rs1386162725	p.Gly45Arg	missense variant	-	NC_000012.12:g.55743449G>A	gnomAD
rs765040186	p.Glu46Gly	missense variant	-	NC_000012.12:g.55743453A>G	ExAC,gnomAD
rs1348869314	p.Glu46Gln	missense variant	-	NC_000012.12:g.55743452G>C	TOPMed
rs1433876779	p.Arg47His	missense variant	-	NC_000012.12:g.55743456G>A	gnomAD
rs1204965985	p.Ser48Phe	missense variant	-	NC_000012.12:g.55743459C>T	gnomAD
rs1282043221	p.Pro51Leu	missense variant	-	NC_000012.12:g.55743468C>T	gnomAD
rs777690238	p.Pro53Leu	missense variant	-	NC_000012.12:g.55743474C>T	ExAC,TOPMed,gnomAD
rs777690238	p.Pro53Arg	missense variant	-	NC_000012.12:g.55743474C>G	ExAC,TOPMed,gnomAD
rs756857866	p.Pro59Leu	missense variant	-	NC_000012.12:g.55743492C>T	ExAC,gnomAD
rs756857866	p.Pro59Gln	missense variant	-	NC_000012.12:g.55743492C>A	ExAC,gnomAD
rs1210864031	p.Pro59Ser	missense variant	-	NC_000012.12:g.55743491C>T	gnomAD
rs1252560217	p.Pro63Ala	missense variant	-	NC_000012.12:g.55743503C>G	gnomAD
rs769376446	p.Val64Leu	missense variant	-	NC_000012.12:g.55743506G>T	ExAC,gnomAD
rs1469413614	p.Arg68Gln	missense variant	-	NC_000012.12:g.55743519G>A	gnomAD
rs1469413614	p.Arg68Pro	missense variant	-	NC_000012.12:g.55743519G>C	gnomAD
rs1350932171	p.Ser71Arg	missense variant	-	NC_000012.12:g.55743527A>C	TOPMed
rs1415731418	p.Ser71Arg	missense variant	-	NC_000012.12:g.55743529C>A	gnomAD
rs1302160102	p.Ser78Asn	missense variant	-	NC_000012.12:g.55743549G>A	gnomAD
rs1370633843	p.Ile79Val	missense variant	-	NC_000012.12:g.55743551A>G	gnomAD
rs772623165	p.Lys80Arg	missense variant	-	NC_000012.12:g.55743555A>G	ExAC,TOPMed,gnomAD
rs1405431481	p.Ser81Leu	missense variant	-	NC_000012.12:g.55743558C>T	TOPMed
rs1157682701	p.Gln82His	missense variant	-	NC_000012.12:g.55743562G>T	TOPMed
COSM4854148	p.Leu84Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743568G>C	NCI-TCGA Cosmic
rs1245500059	p.Arg97Cys	missense variant	-	NC_000012.12:g.55743605C>T	gnomAD
rs1275698336	p.Gln102Ter	stop gained	-	NC_000012.12:g.55743620C>T	gnomAD
rs1381965543	p.Gln102His	missense variant	-	NC_000012.12:g.55743622G>T	TOPMed
rs759498492	p.Leu116Val	missense variant	-	NC_000012.12:g.55743662C>G	ExAC,TOPMed,gnomAD
rs765329043	p.His117Tyr	missense variant	-	NC_000012.12:g.55743665C>T	ExAC,gnomAD
rs775763268	p.Asp118Glu	missense variant	-	NC_000012.12:g.55743670C>G	ExAC,gnomAD
rs1162502190	p.Asp118Ala	missense variant	-	NC_000012.12:g.55743669A>C	gnomAD
rs1471727535	p.Asp118His	missense variant	-	NC_000012.12:g.55743668G>C	gnomAD
COSM3872058	p.Gly121Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743677G>A	NCI-TCGA Cosmic
rs1166134354	p.Asp122Asn	missense variant	-	NC_000012.12:g.55743680G>A	gnomAD
COSM1299628	p.Asp122Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743682C>G	NCI-TCGA Cosmic
rs1395153758	p.Gln125His	missense variant	-	NC_000012.12:g.55743691G>C	TOPMed,gnomAD
rs1397066714	p.Pro126Leu	missense variant	-	NC_000012.12:g.55743693C>T	gnomAD
rs201671298	p.Glu127Lys	missense variant	-	NC_000012.12:g.55743695G>A	TOPMed
rs1336787035	p.Asp128Asn	missense variant	-	NC_000012.12:g.55743698G>A	gnomAD
rs1445348373	p.Glu131Gly	missense variant	-	NC_000012.12:g.55743708A>G	TOPMed
COSM3463262	p.Glu131Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743707G>A	NCI-TCGA Cosmic
rs1406679906	p.Asp133Asn	missense variant	-	NC_000012.12:g.55743713G>A	gnomAD
rs764196755	p.Glu134Asp	missense variant	-	NC_000012.12:g.55743718G>C	ExAC,gnomAD
rs1241167160	p.Tyr135Asp	missense variant	-	NC_000012.12:g.55743719T>G	TOPMed
rs1369605370	p.His136Gln	missense variant	-	NC_000012.12:g.55743724C>G	gnomAD
rs1298575632	p.His136Pro	missense variant	-	NC_000012.12:g.55743723A>C	gnomAD
rs374537273	p.Ala137Thr	missense variant	-	NC_000012.12:g.55743725G>A	ESP,ExAC,gnomAD
rs374537273	p.Ala137Ser	missense variant	-	NC_000012.12:g.55743725G>T	ESP,ExAC,gnomAD
rs757096616	p.Thr139Ser	missense variant	-	NC_000012.12:g.55743731A>T	ExAC,TOPMed,gnomAD
rs368915858	p.Glu140Lys	missense variant	-	NC_000012.12:g.55743734G>A	ESP,ExAC,TOPMed,gnomAD
rs750059741	p.Glu140Ala	missense variant	-	NC_000012.12:g.55743735A>C	ExAC,TOPMed,gnomAD
rs750059741	p.Glu140Gly	missense variant	-	NC_000012.12:g.55743735A>G	ExAC,TOPMed,gnomAD
rs372296030	p.Ala146Val	missense variant	-	NC_000012.12:g.55743753C>T	ESP,ExAC,gnomAD
rs748861162	p.Gln147His	missense variant	-	NC_000012.12:g.55743757G>T	ExAC,TOPMed,gnomAD
rs1182700084	p.Glu148Lys	missense variant	-	NC_000012.12:g.55743758G>A	gnomAD
rs1458262102	p.Thr149Met	missense variant	-	NC_000012.12:g.55748586C>T	TOPMed,gnomAD
rs778217141	p.Asp150Asn	missense variant	-	NC_000012.12:g.55748588G>A	ExAC,TOPMed,gnomAD
rs778217141	p.Asp150His	missense variant	-	NC_000012.12:g.55748588G>C	ExAC,TOPMed,gnomAD
rs1180646856	p.Gln154Ter	stop gained	-	NC_000012.12:g.55748600C>T	TOPMed,gnomAD
rs757754558	p.Thr155Arg	missense variant	-	NC_000012.12:g.55748604C>G	ExAC,TOPMed,gnomAD
rs757754558	p.Thr155Ile	missense variant	-	NC_000012.12:g.55748604C>T	ExAC,TOPMed,gnomAD
rs781608209	p.Ser158Gly	missense variant	-	NC_000012.12:g.55748612A>G	ExAC,gnomAD
rs770076921	p.His163Tyr	missense variant	-	NC_000012.12:g.55748627C>T	ExAC,gnomAD
rs780444518	p.Ser167Ile	missense variant	-	NC_000012.12:g.55748640G>T	ExAC,gnomAD
rs780444518	p.Ser167Asn	missense variant	-	NC_000012.12:g.55748640G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys169ArgPheSerTerUnk	frameshift	-	NC_000012.12:g.55748641C>-	NCI-TCGA
rs1234422468	p.Met171Thr	missense variant	-	NC_000012.12:g.55748652T>C	TOPMed
rs768823786	p.Val175Ile	missense variant	-	NC_000012.12:g.55748663G>A	ExAC,gnomAD
rs774342921	p.Arg185Trp	missense variant	-	NC_000012.12:g.55748693C>T	ExAC,TOPMed,gnomAD
rs761792675	p.Arg185Gln	missense variant	-	NC_000012.12:g.55748694G>A	ExAC,TOPMed
COSM1362928	p.Pro186Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55748697C>T	NCI-TCGA Cosmic
rs760397821	p.Val187Leu	missense variant	-	NC_000012.12:g.55748699G>C	ExAC,gnomAD
rs1363884948	p.Val187Ala	missense variant	-	NC_000012.12:g.55748700T>C	TOPMed
rs555558984	p.Arg189His	missense variant	-	NC_000012.12:g.55748706G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753523328	p.Arg189Gly	missense variant	-	NC_000012.12:g.55748705C>G	ExAC,TOPMed,gnomAD
rs555558984	p.Arg189Pro	missense variant	-	NC_000012.12:g.55748706G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753523328	p.Arg189Cys	missense variant	-	NC_000012.12:g.55748705C>T	ExAC,TOPMed,gnomAD
rs1369414687	p.Arg199Gln	missense variant	-	NC_000012.12:g.55748736G>A	TOPMed,gnomAD
rs895812127	p.Arg199Ter	stop gained	-	NC_000012.12:g.55748735C>T	-
NCI-TCGA novel	p.Lys201AsnPheSerTerUnk	frameshift	-	NC_000012.12:g.55748740A>-	NCI-TCGA
rs764709068	p.Leu203Val	missense variant	-	NC_000012.12:g.55748747C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu203Arg	missense variant	-	NC_000012.12:g.55748748T>G	NCI-TCGA
rs1466379190	p.Thr204Asn	missense variant	-	NC_000012.12:g.55748751C>A	TOPMed
rs1365034629	p.Gly207Glu	missense variant	-	NC_000012.12:g.55748760G>A	gnomAD
NCI-TCGA novel	p.Gly207Val	missense variant	-	NC_000012.12:g.55748760G>T	NCI-TCGA
COSM941401	p.Thr208Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55748762A>G	NCI-TCGA Cosmic
rs201069456	p.Ala209Thr	missense variant	-	NC_000012.12:g.55748765G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs35639297	p.Gly210Val	missense variant	-	NC_000012.12:g.55748769G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35639297	p.Gly210Ala	missense variant	-	NC_000012.12:g.55748769G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1389632510	p.Gly210Arg	missense variant	-	NC_000012.12:g.55748768G>C	gnomAD
rs1246516322	p.Gly211Val	missense variant	-	NC_000012.12:g.55748772G>T	TOPMed,gnomAD
rs756577208	p.Gly211Arg	missense variant	-	NC_000012.12:g.55748771G>A	ExAC,gnomAD
rs1246516322	p.Gly211Ala	missense variant	-	NC_000012.12:g.55748772G>C	TOPMed,gnomAD
rs1289229568	p.Gly213Asp	missense variant	-	NC_000012.12:g.55748778G>A	gnomAD
rs780604190	p.Gly214Arg	missense variant	-	NC_000012.12:g.55748780G>A	ExAC,TOPMed,gnomAD
rs1459308706	p.Gly215Ser	missense variant	-	NC_000012.12:g.55748783G>A	TOPMed,gnomAD
rs151157196	p.Arg216Gln	missense variant	-	NC_000012.12:g.55748787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151157196	p.Arg216Leu	missense variant	-	NC_000012.12:g.55748787G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs948703541	p.Arg217Ser	missense variant	-	NC_000012.12:g.55748789C>A	TOPMed
rs577610115	p.Arg217His	missense variant	-	NC_000012.12:g.55748790G>A	1000Genomes,ExAC,gnomAD
COSM266579	p.Arg217Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55748789C>T	NCI-TCGA Cosmic
rs1032152294	p.Arg220His	missense variant	-	NC_000012.12:g.55748799G>A	TOPMed
rs1177150502	p.Arg222His	missense variant	-	NC_000012.12:g.55748805G>A	TOPMed,gnomAD
rs964577483	p.Arg222Cys	missense variant	-	NC_000012.12:g.55748804C>T	gnomAD
rs748177224	p.Leu224Val	missense variant	-	NC_000012.12:g.55748810C>G	ExAC,gnomAD
rs1426000440	p.Ile226Thr	missense variant	-	NC_000012.12:g.55748817T>C	TOPMed,gnomAD
rs377713091	p.Ile226Met	missense variant	-	NC_000012.12:g.55748818T>G	ESP,ExAC,TOPMed,gnomAD
rs1384904210	p.Glu227Lys	missense variant	-	NC_000012.12:g.55748819G>A	TOPMed,gnomAD
rs1170518231	p.Arg231Cys	missense variant	-	NC_000012.12:g.55748831C>T	gnomAD
rs773048452	p.Arg231His	missense variant	-	NC_000012.12:g.55748832G>A	ExAC,TOPMed,gnomAD
rs770684844	p.Ser232Leu	missense variant	-	NC_000012.12:g.55748835C>T	ExAC,TOPMed,gnomAD
COSM468639	p.Ser232Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.55748835C>G	NCI-TCGA Cosmic
rs776463049	p.His234Arg	missense variant	-	NC_000012.12:g.55748841A>G	ExAC,gnomAD
rs1381538589	p.Asp239Asn	missense variant	-	NC_000012.12:g.55748855G>A	gnomAD
rs1471862638	p.Lys241Thr	missense variant	-	NC_000012.12:g.55748862A>C	TOPMed
rs1276082820	p.Ser246Gly	missense variant	-	NC_000012.12:g.55748876A>G	gnomAD
rs201160764	p.Arg249Pro	missense variant	-	NC_000012.12:g.55748886G>C	ExAC,TOPMed,gnomAD
rs201160764	p.Arg249His	missense variant	-	NC_000012.12:g.55748886G>A	ExAC,TOPMed,gnomAD
rs1484431486	p.Trp255Cys	missense variant	-	NC_000012.12:g.55748905G>C	gnomAD
rs768027190	p.Gly256Asp	missense variant	-	NC_000012.12:g.55748907G>A	ExAC
rs756732913	p.Glu258Lys	missense variant	-	NC_000012.12:g.55748912G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp263His	missense variant	-	NC_000012.12:g.55748927G>C	NCI-TCGA
rs779013078	p.Pro276Leu	missense variant	-	NC_000012.12:g.55748967C>T	ExAC,TOPMed,gnomAD
rs1213533171	p.Gly277Arg	missense variant	-	NC_000012.12:g.55748969G>A	gnomAD
NCI-TCGA novel	p.Gly277Ala	missense variant	-	NC_000012.12:g.55748970G>C	NCI-TCGA
rs377322165	p.Glu279Lys	missense variant	-	NC_000012.12:g.55748975G>A	ESP,ExAC,TOPMed,gnomAD
rs746927725	p.Glu279Asp	missense variant	-	NC_000012.12:g.55748977G>C	ExAC,gnomAD
rs1465676590	p.Leu281Gln	missense variant	-	NC_000012.12:g.55748982T>A	gnomAD
rs770913542	p.Leu281Met	missense variant	-	NC_000012.12:g.55748981C>A	ExAC,gnomAD
rs1472251834	p.Met285Val	missense variant	-	NC_000012.12:g.55749511A>G	TOPMed
rs766996465	p.Arg288Gln	missense variant	-	NC_000012.12:g.55749521G>A	ExAC,gnomAD
rs1258041435	p.Val289Ile	missense variant	-	NC_000012.12:g.55749523G>A	TOPMed
rs754195878	p.Glu291Gln	missense variant	-	NC_000012.12:g.55749529G>C	ExAC,gnomAD
rs954388671	p.Glu291Asp	missense variant	-	NC_000012.12:g.55749531G>C	gnomAD
rs755414859	p.Glu291Val	missense variant	-	NC_000012.12:g.55749530A>T	ExAC,gnomAD
rs765457179	p.Asn292Thr	missense variant	-	NC_000012.12:g.55749533A>C	ExAC,gnomAD
COSM1299629	p.Asn292Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749534C>G	NCI-TCGA Cosmic
rs752832892	p.Thr293Ile	missense variant	-	NC_000012.12:g.55749536C>T	ExAC,gnomAD
rs373209240	p.Arg297Gln	missense variant	-	NC_000012.12:g.55749548G>A	ESP,ExAC
NCI-TCGA novel	p.Arg297Trp	missense variant	-	NC_000012.12:g.55749547C>T	NCI-TCGA
NCI-TCGA novel	p.Arg298Gln	missense variant	-	NC_000012.12:g.55749551G>A	NCI-TCGA
rs1165110498	p.Leu300Pro	missense variant	-	NC_000012.12:g.55749557T>C	gnomAD
NCI-TCGA novel	p.Gly301Ser	missense variant	-	NC_000012.12:g.55749559G>A	NCI-TCGA
rs747162441	p.Asp303Glu	missense variant	-	NC_000012.12:g.55749567C>A	ExAC,gnomAD
rs376855167	p.Asp305Glu	missense variant	-	NC_000012.12:g.55749573C>A	ESP,ExAC,TOPMed,gnomAD
rs781124704	p.Asp305Asn	missense variant	-	NC_000012.12:g.55749571G>A	ExAC,TOPMed,gnomAD
rs1444997099	p.Glu306Lys	missense variant	-	NC_000012.12:g.55749574G>A	gnomAD
rs1278088835	p.Glu306Ala	missense variant	-	NC_000012.12:g.55749575A>C	gnomAD
rs1229100363	p.Ser309Arg	missense variant	-	NC_000012.12:g.55749585C>G	gnomAD
rs775400796	p.Glu310Lys	missense variant	-	NC_000012.12:g.55749586G>A	ExAC,gnomAD
rs748876101	p.Arg312His	missense variant	-	NC_000012.12:g.55749593G>A	ExAC,gnomAD
COSM4043372	p.Arg312Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749592C>T	NCI-TCGA Cosmic
rs761420405	p.Arg315Gln	missense variant	-	NC_000012.12:g.55749602G>A	ExAC,gnomAD
rs760131097	p.Val320Gly	missense variant	-	NC_000012.12:g.55749617T>G	ExAC,gnomAD
rs765498823	p.Ala324Ser	missense variant	-	NC_000012.12:g.55749628G>T	ExAC,gnomAD
rs753164401	p.Gly326Ser	missense variant	-	NC_000012.12:g.55749634G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp329Arg	missense variant	-	NC_000012.12:g.55749643T>A	NCI-TCGA
NCI-TCGA novel	p.Ala332Thr	missense variant	-	NC_000012.12:g.55749652G>A	NCI-TCGA
rs764308916	p.Lys334Met	missense variant	-	NC_000012.12:g.55749659A>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys334Glu	missense variant	-	NC_000012.12:g.55749658A>G	NCI-TCGA
rs1335516178	p.Arg335His	missense variant	-	NC_000012.12:g.55749662G>A	TOPMed,gnomAD
rs1335516178	p.Arg335Leu	missense variant	-	NC_000012.12:g.55749662G>T	TOPMed,gnomAD
rs1480358374	p.Arg335Cys	missense variant	-	NC_000012.12:g.55749661C>T	TOPMed,gnomAD
rs1449282134	p.Tyr336Ter	stop gained	-	NC_000012.12:g.55749666C>G	gnomAD
RCV000626007	p.Tyr336Ter	nonsense	-	NC_000012.12:g.55749666C>G	ClinVar
rs1195145952	p.Tyr340His	missense variant	-	NC_000012.12:g.55749676T>C	gnomAD
NCI-TCGA novel	p.Ser342Phe	missense variant	-	NC_000012.12:g.55749683C>T	NCI-TCGA
rs781069776	p.Gly343Cys	missense variant	-	NC_000012.12:g.55749685G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln344His	missense variant	-	NC_000012.12:g.55749690G>C	NCI-TCGA
rs779705439	p.Glu346Asp	missense variant	-	NC_000012.12:g.55749696G>C	ExAC,TOPMed,gnomAD
rs756132179	p.Glu346Lys	missense variant	-	NC_000012.12:g.55749694G>A	ExAC,gnomAD
rs1355830476	p.Tyr347Cys	missense variant	-	NC_000012.12:g.55749698A>G	TOPMed
rs1270842984	p.Met348Thr	missense variant	-	NC_000012.12:g.55749701T>C	gnomAD
rs1436990423	p.Gln351Ter	stop gained	-	NC_000012.12:g.55749709C>T	gnomAD
rs747619714	p.Thr356Ala	missense variant	-	NC_000012.12:g.55749724A>G	ExAC,gnomAD
COSM1362929	p.Asn363Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749745A>T	NCI-TCGA Cosmic
rs771675483	p.Arg365Gly	missense variant	-	NC_000012.12:g.55749751A>G	ExAC,TOPMed,gnomAD
rs772900208	p.Ala368Gly	missense variant	-	NC_000012.12:g.55749761C>G	ExAC,gnomAD
rs1166643883	p.Pro370Leu	missense variant	-	NC_000012.12:g.55749767C>T	gnomAD
rs775654641	p.Thr373Ala	missense variant	-	NC_000012.12:g.55749775A>G	ExAC,gnomAD
rs1404375406	p.Thr373Asn	missense variant	-	NC_000012.12:g.55749776C>A	gnomAD
COSM294406	p.Pro374Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749778C>A	NCI-TCGA Cosmic
rs374606006	p.Thr375Ile	missense variant	-	NC_000012.12:g.55749782C>T	ESP,TOPMed
rs1225397425	p.Ile380Val	missense variant	-	NC_000012.12:g.55749796A>G	TOPMed,gnomAD
rs1225397425	p.Ile380Leu	missense variant	-	NC_000012.12:g.55749796A>C	TOPMed,gnomAD
rs1204225512	p.Lys388Arg	missense variant	-	NC_000012.12:g.55749821A>G	TOPMed,gnomAD
COSM1362930	p.Tyr393His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749835T>C	NCI-TCGA Cosmic
COSM3792807	p.Gly394Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749838G>A	NCI-TCGA Cosmic
rs767568080	p.Met399Thr	missense variant	-	NC_000012.12:g.55749854T>C	ExAC,gnomAD
rs374387578	p.Arg403His	missense variant	-	NC_000012.12:g.55749866G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys406Tyr	missense variant	-	NC_000012.12:g.55749875G>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000846	Agenesis	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0027651	Neoplasms	group	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0795690	Congenital omphalocele	disease	BEFREE
C1306503	Congenital exomphalos	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1531773	Currarino triad	disease	GENOMICS_ENGLAND
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005125	cytokine activity	IBA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	TAS
GO:0001656	metanephros development	IEA
GO:0001657	ureteric bud development	IEA
GO:0007399	nervous system development	TAS
GO:0007498	mesoderm development	TAS
GO:0008285	negative regulation of cell population proliferation	IEA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0021512	spinal cord anterior/posterior patterning	IEA
GO:0031016	pancreas development	IEA
GO:0045665	negative regulation of neuron differentiation	IEA
GO:0048469	cell maturation	IEA
GO:0048593	camera-type eye morphogenesis	IEA
GO:0060021	roof of mouth development	IEA
GO:0060395	SMAD protein signal transduction	IBA
GO:0060395	SMAD protein signal transduction	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IBA
GO:0005654	nucleoplasm	IDA
GO:0032991	protein-containing complex	IDA
GO:0043231	intracellular membrane-bounded organelle	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of GDF11 mRNA	23829299
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl results in increased expression of GDF11 mRNA	23829299
C496492	abrine	abrine results in decreased expression of GDF11 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of GDF11 mRNA	25064622
D000082	Acetaminophen	Acetaminophen results in increased expression of GDF11 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of GDF11 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of GDF11 mRNA	28959563
D000638	Amiodarone	Amiodarone affects the expression of GDF11 mRNA	25064622
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GDF11 mRNA	16483693
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of GDF11 mRNA	18164116
C006780	bisphenol A	bisphenol A affects the expression of GDF11 mRNA	21786754; 23557687;
C006780	bisphenol A	bisphenol A results in decreased methylation of GDF11 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of GDF11 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of GDF11 gene	28505145
D002746	Chlorpromazine	Chlorpromazine affects the expression of GDF11 mRNA	25064622
D002990	Clobetasol	Clobetasol results in decreased expression of GDF11 mRNA	27462272
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of GDF11 mRNA	24386269
D003300	Copper	Copper results in decreased expression of GDF11 mRNA	21892792
D003300	Copper	Copper results in increased expression of GDF11 mRNA	30556269
D003471	Cuprizone	Cuprizone results in decreased expression of GDF11 mRNA	27523638
D016572	Cyclosporine	Cyclosporine affects the expression of GDF11 mRNA	25064622
D000077209	Decitabine	Decitabine results in increased expression of GDF11 mRNA	27915011
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of GDF11 mRNA	18164116
D004237	Diuron	Diuron results in increased expression of GDF11 mRNA	21551480
D004317	Doxorubicin	Doxorubicin results in decreased expression of GDF11 mRNA	29803840
D004958	Estradiol	Estradiol affects the expression of GDF11 mRNA	23557687
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of GDF11 mRNA	30165855
D000431	Ethanol	Ethanol results in increased expression of GDF11 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of GDF11 mRNA	25064622
C039281	furan	furan results in increased expression of GDF11 mRNA	25539665
D006108	Graphite	Graphite affects the expression of GDF11 mRNA	29933104
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of GDF11 mRNA	23430699; 24796395;
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of GDF11 mRNA	23649840
D009966	Orphenadrine	Orphenadrine affects the expression of GDF11 mRNA	23665939
D010269	Paraquat	Paraquat affects the expression of GDF11 mRNA	25064622
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of GDF11 mRNA	29458080
C100128	phenmedipham	phenmedipham results in decreased expression of GDF11 mRNA	21892792
C005556	propionaldehyde	propionaldehyde results in increased expression of GDF11 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of GDF11 mRNA	24780913
D011794	Quercetin	Quercetin results in increased expression of GDF11 mRNA	21632981
D000077210	Sunitinib	Sunitinib results in decreased expression of GDF11 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GDF11 mRNA	26377647
D013752	Tetracycline	Tetracycline affects the expression of GDF11 mRNA	25064622
D013853	Thioacetamide	Thioacetamide affects the expression of GDF11 mRNA	25064622
D014212	Tretinoin	Tretinoin results in increased expression of GDF11 mRNA	17196394
C012589	trichostatin A	trichostatin A affects the expression of GDF11 mRNA	28542535
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of GDF11 mRNA	26179874
D014635	Valproic Acid	Valproic Acid affects the expression of GDF11 mRNA	25064622
D014635	Valproic Acid	Valproic Acid results in increased expression of GDF11 mRNA	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of GDF11 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0165	Cleavage on pair of basic residues
KW-0202	Cytokine
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR001111	TGF-b_propeptide
IPR015615	TGF-beta-rel
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta
PF00688	TGFb_propeptide

Gene: GDF11

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

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