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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 nameGene Name - the full gene name approved by the HGNC.
Folliculogenesis specific bHLH transcription factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FIGLA
SynonymsGene synonyms aliases
BHLHC8, FIGALPHA, POF6
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005515 Function Protein binding IPI 32296183
Other IDsOther 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
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
Sequence 
MDPAPGVLDPRAAPPALLGTPQAEVLEDVLREQFGPLPQLAAVCRLKRLPSGGYSSTENL
QLVLERRRVANAKERERIKNLNRGFARLKALVPFLPQSRKPSKVDILKGATEYIQVLSDL
LEGAKDSKKQDPDEQSYSNNSSESHTSSARQLSRNITQHISCAFGLKNEEEGPWADGGSG
EPAHACRHSVMSTTEIISPTRSLDRFPEVELLSHRLPQV
Sequence length 219
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Premature ovarian failure Premature Ovarian Failure 6 rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478 18499083
Unknown
Disease name Disease term dbSNP ID References
Ovarian failure Ovarian Failure, Premature, NON RARE IN EUROPE: Primary ovarian failure 18499083
Physiologic amenorrhea Primary physiologic amenorrhea
Premature menopause Premature Menopause
Secondary physiologic amenorrhea Secondary physiologic amenorrhea

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