GDF9 (growth differentiation factor 9)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2661
Gene name Gene Name - the full gene name approved by the HGNC.
Growth differentiation factor 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDF9
Synonyms (NCBI Gene) Gene synonyms aliases
POF14
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1216260561 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
MIRT017790 hsa-miR-335-5p Microarray 18185580
MIRT019338 hsa-miR-148b-3p Microarray 17612493
MIRT1015749 hsa-miR-124 CLIP-seq
MIRT1015750 hsa-miR-1244 CLIP-seq
MIRT1015751 hsa-miR-199a-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001555 Process Oocyte growth 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601918 4224 ENSG00000164404
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60383
Protein name Growth/differentiation factor 9 (GDF-9)
Protein function Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosph
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 352 → 453 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein level). {ECO:0000269|PubMed:10443672, ECO:0000269|PubMed:12050262}.
Sequence 
MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGAMPWSLLQHIDERDRAG
LLPALFKVLSVGRGGSPRLQPDSRALHYMKKLYKTYATKEGIPKSNRSHLYNTVRLFTPC
TRHKQAPGDQVTGILPSVELLFNLDRITTVEHLLKSVLLYNINNSVSFSSAVKCVCNLMI
KEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTSLLQPLVASNKRSIHMSINFTCM
KDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYHSWYSLHYKRRPSQGPDQERSLSAY
PVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGPASFNLSEYFRQFLLPQNECELHDFRL
SFSQLKWDNWIVAPHRYNPRYCKGDCPRAVGHRYGSPVHTMVQNIIYEKLDSSVPRPSCV
PAKYSPLSVLTIEPDGSIAYKEYEDMIATKCTCR
Sequence length 454
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Cytokine-cytokine receptor interaction  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Premature Ovarian Failure premature ovarian failure 14 rs1216260561 N/A
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23011157
Breast Neoplasms Associate 35436939
Calcinosis Cutis Associate 35436939
Carcinogenesis Associate 23011157
Endometriosis Associate 28831646
Hirsutism Associate 20236105
Hyperplasia Associate 23011157
Lymphatic Metastasis Inhibit 23011157
Ovarian Diseases Associate 20451184
Ovarian Neoplasms Associate 33036707, 38358476