FIGLA

Protein identityUniProt · HPA

UniProt accession

Q6QHK4

Gene

FIGLA

Ensembl

ENSG00000183733

Chromosome

2

Canonical length

219 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI 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 that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

219 residues, UniProt reviewed canonical sequence.

>Q6QHK4|FIGLA
     1  MDPAPGVLDP RAAPPALLGT PQAEVLEDVL REQFGPLPQL AAVCRLKRLP SGGYSSTENL
    61  QLVLERRRVA NAKERERIKN LNRGFARLKA LVPFLPQSRK PSKVDILKGA TEYIQVLSDL
   121  LEGAKDSKKQ DPDEQSYSNN SSESHTSSAR QLSRNITQHI SCAFGLKNEE EGPWADGGSG
   181  EPAHACRHSV MSTTEIISPT RSLDRFPEVE LLSHRLPQV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FIGLA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

2.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FIGLA.

Disease | AllUniProt

Conditions FIGLA is implicated in, by any mechanism.

• Premature ovarian failure 6 (POF6) MIM:612310

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 86 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Premature ovarian failure 6
• Genetic non-acquired premature ovarian failure

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.32

gnomAD pLI

0

gnomAD missense Z

0.08

DepMap mean gene effect

-0.12

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• developmental process
• oocyte development
• regulation of transcription by RNA polymerase II

Molecular functions

• bHLH transcription factor binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein dimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• E-box Binding Transcriptional Regulators
• Helix-loop-helix DNA-binding domain

KeywordsUniProt

• Developmental protein
• Differentiation
• DNA-binding
• Nucleus
• Oogenesis
• Premature ovarian failure
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of FIGLA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TCF3
• LHX8