GDF1 (growth differentiation factor 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 2657
Gene name Growth differentiation factor 1
Gene symbol GDF1
Synonyms (NCBI Gene)
CERS1CHTD6DORVDTGA3LAG1LASS1RAIUOG1
Chromosome 19
Chromosome location 19p13.11
Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12 Show/Hide all (12)
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GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
602880 4214 ENSG00000130283
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27539
Protein name Embryonic growth/differentiation factor 1 (GDF-1)
Protein function May mediate cell differentiation events during embryonic development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 266 → 371 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain.
Sequence 
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPP
VMWRLFRRRDPQETRSGSRRTSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASA
AGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPEGGWELSVAQAGQGAGADPGP
VLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQC
ALPVALSGSGGPPALNHAVLRALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQ
YEDMVVDECGCR
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway
Cytokine-cytokine receptor interaction
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (6)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital heart defects, multiple types Likely pathogenic; Pathogenic rs374016704 RCV005417383
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart defects, multiple types, 6 Likely pathogenic; Pathogenic rs768027510, rs374016704, rs606231383, rs900625437 RCV002470862
RCV000625716
RCV005357431
RCV001254622
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of Likely pathogenic; Pathogenic rs374016704 RCV001836851
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★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy Likely pathogenic; Pathogenic rs1359321518 RCV001732105
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Right atrial isomerism Likely pathogenic; Pathogenic rs768027510, rs1555702261, rs753643819, rs374016704, rs606231383, rs1359321518 RCV005027530
RCV003147471
RCV000625715
RCV005357824
RCV000055616
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
CONGENITAL HEART DEFECTS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL CARDIAC DEFECTS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS — CTD 156222, 17924340, 28991257, 29368431
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★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISCORDANT VENTRICULOARTERIAL CONNECTION — Disgenet —
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★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Double outlet right ventricle Uncertain significance ClinVar
CTD, Disgenet
CTD, Disgenet 		17924340
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
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CERS1 9 shared diseasesCongenital heart defects, Congenital heart disease, Double outlet right ventricle, Progressive myoclonic epilepsy, Heterotaxy syndrome, Right atrial isomerism, Situs ambiguus, Tetralogy of fallot, Transposition of the great arteries 9 shared evidence sourcesDisgenet (Congenital heart defects), Disgenet (Congenital heart disease), Disgenet (Double outlet right ventricle), Disgenet (Progressive myoclonic epilepsy), Disgenet (Heterotaxy syndrome), Disgenet (Right atrial isomerism), Disgenet (Situs ambiguus), Disgenet (Tetralogy of fallot), Disgenet (Transposition of the great arteries) Related via 9 shared diseases including Congenital heart defects, Congenital heart disease — evidence mostly Disgenet. LEFTY2 4 shared diseasesCongenital heart defects, Congenital heart disease, Heterotaxy syndrome, Tetralogy of fallot 5 shared evidence sourcesDisgenet (Congenital heart defects), Disgenet (Congenital heart disease), CTD (Heterotaxy syndrome), Disgenet (Heterotaxy syndrome), CTD (Tetralogy of fallot) Related via 4 shared diseases including Congenital heart defects, Congenital heart disease — evidence mostly Disgenet. CFC1 4 shared diseasesDouble outlet right ventricle, Heterotaxy syndrome, Tetralogy of fallot, Transposition of the great arteries 5 shared evidence sourcesCTD (Double outlet right ventricle), CTD (Heterotaxy syndrome), Disgenet (Heterotaxy syndrome), CTD (Tetralogy of fallot), CTD (Transposition of the great arteries) Related via 4 shared diseases including Double outlet right ventricle, Heterotaxy syndrome — evidence mostly CTD. CRIPTO 4 shared diseasesCongenital heart defects, Congenital heart disease, Heterotaxy syndrome, Tetralogy of fallot 5 shared evidence sourcesDisgenet (Congenital heart defects), Disgenet (Congenital heart disease), CTD (Heterotaxy syndrome), Disgenet (Heterotaxy syndrome), CTD (Tetralogy of fallot) Related via 4 shared diseases including Congenital heart defects, Congenital heart disease — evidence mostly Disgenet. NKX2-6 3 shared diseasesCongenital heart disease, Conotruncal cardiac defect, Tetralogy of fallot 6 shared evidence sourcesDisgenet (Congenital heart disease), Disgenet (Conotruncal cardiac defect), CTD (Conotruncal cardiac defect), CTD (Tetralogy of fallot), Disgenet (Tetralogy of fallot), Orphanet (Tetralogy of fallot) Related via 3 shared diseases including Congenital heart disease, Conotruncal cardiac defect — evidence mostly Disgenet.
progressive myoclonus epilepsy Linked via 1 of 5 related genesCERS1 Central nervous system cancer Linked via 1 of 5 related genesLEFTY2 Glioblastoma Linked via 1 of 5 related genesLEFTY2 Glioma Linked via 1 of 5 related genesLEFTY2 Visceral heterotaxy Linked via 1 of 5 related genesLEFTY2