FIGLA (folliculogenesis specific bHLH transcription factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
344018
Gene name Gene Name - the full gene name approved by the HGNC.
Folliculogenesis specific bHLH transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FIGLA
Synonyms (NCBI Gene) Gene synonyms aliases
BHLHC8, FIGALPHA, POF6
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those tha
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs71647804 GTT>- Pathogenic Coding sequence variant, inframe deletion
rs587776535 ATCTAGGACGCCGGGCGCGGGG>- Pathogenic Coding sequence variant, frameshift variant
rs1001164504 A>G Pathogenic Initiator codon variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT1995575 hsa-miR-3154 CLIP-seq
MIRT1995576 hsa-miR-548ag CLIP-seq
MIRT1995577 hsa-miR-548ai 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 Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608697 24669 ENSG00000183733
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6QHK4
Protein name Factor in the germline alpha (FIGalpha) (Class C basic helix-loop-helix protein 8) (bHLHc8) (Folliculogenesis-specific basic helix-loop-helix protein) (Transcription factor FIGa)
Protein function Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 66 → 118 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Germ cells. Expressed in the fetal ovary, but not by a range of other tissues. Expression increases across mid-gestation, rising some 40-fold by the time of primordial follicle formation. {ECO:0000269|PubMed:12468641, ECO:0000269|PubMe
Sequence 
MDPAPGVLDPRAAPPALLGTPQAEVLEDVLREQFGPLPQLAAVCRLKRLPSGGYSSTENL
QLVLERRRVANAKERERIKNLNRGFARLKALVPFLPQSRKPSKVDILKGATEYIQVLSDL
LEGAKDSKKQDPDEQSYSNNSSESHTSSARQLSRNITQHISCAFGLKNEEEGPWADGGSG
EPAHACRHSVMSTTEIISPTRSLDRFPEVELLSHRLPQV
Sequence length 219
Interactions View interactions
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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 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 6 rs587776535, rs71647804, rs1001164504 N/A
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Gonadal Dysgenesis Associate 33101191
Neoplasms Associate 28489605
Primary Ovarian Insufficiency Associate 18499083, 29914564, 31151408
Sezary Syndrome Associate 28489605