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Aliases for FIGLA Gene

Aliases for FIGLA Gene

  • Folliculogenesis Specific BHLH Transcription Factor 2 3 5
  • Folliculogenesis-Specific Basic Helix-Loop-Helix Protein 3 4
  • Folliculogenesis Specific Basic Helix-Loop-Helix 2 3
  • Class C Basic Helix-Loop-Helix Protein 8 3 4
  • Transcription Factor FIGa 3 4
  • FIGALPHA 3 4
  • BHLHC8 3 4
  • Factor In The Germline Alpha 2
  • POF6 3

External Ids for FIGLA Gene

Previous GeneCards Identifiers for FIGLA Gene

  • GC02M070962
  • GC02U900441
  • GC02M070916
  • GC02M070847
  • GC02M071004

Summaries for FIGLA Gene

Entrez Gene Summary for FIGLA 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]

GeneCards Summary for FIGLA Gene

FIGLA (Folliculogenesis Specific BHLH Transcription Factor) is a Protein Coding gene. Diseases associated with FIGLA include premature ovarian failure 6 and premature ovarian failure. GO annotations related to this gene include sequence-specific DNA binding and protein dimerization activity.

UniProtKB/Swiss-Prot for FIGLA Gene

  • 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 the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E-box (5-CANNTG-3) of the ZPs (ZP1, ZP2, ZP3) promoters.

Gene Wiki entry for FIGLA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FIGLA Gene

Genomics for FIGLA Gene

Genomic Location for FIGLA Gene

Chromosome:
2
Start:
70,777,310 bp from pter
End:
70,790,643 bp from pter
Size:
13,334 bases
Orientation:
Minus strand

Genomic View for FIGLA Gene

Genes around FIGLA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FIGLA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FIGLA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FIGLA Gene

Proteins for FIGLA Gene

  • Protein details for FIGLA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6QHK4-FIGLA_HUMAN
    Recommended name:
    Factor in the germline alpha
    Protein Accession:
    Q6QHK4

    Protein attributes for FIGLA Gene

    Size:
    219 amino acids
    Molecular mass:
    24123 Da
    Quaternary structure:
    • Heterodimer with TCF3/isoform E12.

neXtProt entry for FIGLA Gene

Proteomics data for FIGLA Gene at MOPED

Post-translational modifications for FIGLA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FIGLA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FIGLA Gene

Domains & Families for FIGLA Gene

Gene Families for FIGLA Gene

Protein Domains for FIGLA Gene

Suggested Antigen Peptide Sequences for FIGLA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6QHK4

UniProtKB/Swiss-Prot:

FIGLA_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with FIGLA: view

Function for FIGLA Gene

Molecular function for FIGLA Gene

UniProtKB/Swiss-Prot 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 the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E-box (5-CANNTG-3) of the ZPs (ZP1, ZP2, ZP3) promoters.

Gene Ontology (GO) - Molecular Function for FIGLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0043565 contributes_to sequence-specific DNA binding IDA 15044608
genes like me logo Genes that share ontologies with FIGLA: view
genes like me logo Genes that share phenotypes with FIGLA: view

Human Phenotype Ontology for FIGLA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FIGLA Gene

MGI Knock Outs for FIGLA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for FIGLA Gene

Localization for FIGLA Gene

Subcellular locations from UniProtKB/Swiss-Prot for FIGLA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FIGLA Gene COMPARTMENTS Subcellular localization image for FIGLA gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for FIGLA Gene

Pathways & Interactions for FIGLA Gene

SuperPathways for FIGLA Gene

No Data Available

Interacting Proteins for FIGLA Gene

Gene Ontology (GO) - Biological Process for FIGLA Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FIGLA Gene

Drugs & Compounds for FIGLA Gene

No Compound Related Data Available

Transcripts for FIGLA Gene

mRNA/cDNA for FIGLA Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FIGLA Gene

Folliculogenesis specific basic helix-loop-helix:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FIGLA Gene

No ASD Table

Relevant External Links for FIGLA Gene

GeneLoc Exon Structure for
FIGLA
ECgene alternative splicing isoforms for
FIGLA

Expression for FIGLA Gene

mRNA expression in normal human tissues for FIGLA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FIGLA Gene

This gene is overexpressed in Ovary (x7.8), Pancreas (x7.7), and Testis (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FIGLA Gene



SOURCE GeneReport for Unigene cluster for FIGLA Gene Hs.407636

mRNA Expression by UniProt/SwissProt for FIGLA Gene

Q6QHK4-FIGLA_HUMAN
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.
genes like me logo Genes that share expression patterns with FIGLA: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for FIGLA Gene

Orthologs for FIGLA Gene

This gene was present in the common ancestor of chordates.

Orthologs for FIGLA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FIGLA 35
  • 84.17 (n)
  • 77.65 (a)
FIGLA 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FIGLA 35
  • 79.87 (n)
  • 74 (a)
FIGLA 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Figla 35
  • 74.47 (n)
  • 68.62 (a)
Figla 16
Figla 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FIGLA 35
  • 99.24 (n)
  • 98.17 (a)
FIGLA 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Figla 35
  • 76.08 (n)
  • 72.35 (a)
oppossum
(Monodelphis domestica)
Mammalia FIGLA 36
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii figla 36
  • 20 (a)
OneToMany
figla 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToOne
Species with no ortholog for FIGLA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FIGLA Gene

ENSEMBL:
Gene Tree for FIGLA (if available)
TreeFam:
Gene Tree for FIGLA (if available)

Paralogs for FIGLA Gene

Pseudogenes.org Pseudogenes for FIGLA Gene

genes like me logo Genes that share paralogs with FIGLA: view

No data available for Paralogs for FIGLA Gene

Variants for FIGLA Gene

Sequence variations from dbSNP and Humsavar for FIGLA Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_046776 -
rs7566476 - 70,785,602(+) CAGAA(C/G)TGTTG reference, missense
rs2080393 -- 70,782,171(+) aaaga(A/G)aaaga intron-variant
rs2080394 -- 70,782,317(+) gccga(C/T)gatgc intron-variant
rs2024454 -- 70,779,257(+) TTAAA(A/C/T)GGGAA intron-variant

Variation tolerance for FIGLA Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FIGLA Gene

HapMap Linkage Disequilibrium report
FIGLA
Human Gene Mutation Database (HGMD)
FIGLA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FIGLA Gene

Disorders for FIGLA Gene

MalaCards: The human disease database

(3) MalaCards diseases for FIGLA Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 6
  • pof6
premature ovarian failure
  • premature menopause
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FIGLA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FIGLA_HUMAN
  • Premature ovarian failure 6 (POF6) [MIM:612310]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:18499083}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FIGLA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FIGLA
genes like me logo Genes that share disorders with FIGLA: view

No data available for Genatlas for FIGLA Gene

Publications for FIGLA Gene

  1. Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes. (PMID: 12468641) Huntriss J. … Picton H.M. (Mol. Hum. Reprod. 2002) 2 3 4 23 67
  2. Zona pellucida components are present in human fetal ovary before follicle formation. (PMID: 18502569) TAPrmAolAo R.M. … Vaskivuo T.E. (Mol. Cell. Endocrinol. 2008) 3 23
  3. Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary. (PMID: 15044608) Bayne R.A.L. … Anderson R.A. (Mol. Hum. Reprod. 2004) 3 23
  4. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 3
  5. Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure. (PMID: 25314148) Tosh D. … Grover P. (Menopause 2014) 3

Products for FIGLA Gene

Sources for FIGLA Gene

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