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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
  • Class C Basic Helix-Loop-Helix Protein 8 3 4
  • Factor In The Germline Alpha 2 3
  • Transcription Factor FIGa 3 4
  • BHLHC8 3 4
  • Folliculogenesis Specific Basic Helix-Loop-Helix 2
  • FIGALPHA 3
  • FIGalpha 4
  • BHLHc8 4
  • 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 Hermaphroditism. Among its related pathways are Ovarian Infertility Genes. Gene Ontology (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

Additional gene information for FIGLA Gene

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

Genomics for FIGLA Gene

GeneHancer (GH) Regulatory Elements for FIGLA Gene

Promoters and enhancers for FIGLA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J070789 Enhancer 0.8 ENCODE 650.7 +0.9 879 0.1 ELF3 ARID4B SIN3A ZNF48 ZSCAN9 RAD21 ZNF143 THAP11 MIXL1 HMG20B FIGLA ADD2
GH02J070766 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 6 +23.2 23220 1.8 PKNOX1 SIN3A ZNF2 GLIS2 ZNF213 KLF7 SP3 REST ZNF592 MBD2 ADD2 TIA1 MPHOSPH10 FIGLA PIR38094
GH02J070732 Enhancer 0.4 ENCODE 6.5 +56.9 56898 2.6 RFX1 POLR2A RCOR1 ADD2 FIGLA PIR38094
GH02J070619 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 1.9 +170.5 170521 0.9 POLR2A PRDM1 ADD2 TGFA FIGLA GC02M070656
GH02J070509 Enhancer 1 FANTOM5 ENCODE dbSUPER 1.5 +280.4 280363 1.3 SMARCE1 CTCF GATA3 KLF4 ZBTB20 TCF7L2 CD207 TGFA ASPRV1 FIGLA TGFA-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FIGLA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FIGLA gene promoter:
  • c-Ets-1
  • PPAR-gamma2
  • PPAR-gamma1
  • FOXJ2 (long isoform)
  • FOXJ2
  • AML1a
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for FIGLA Gene

Genomic Locations for FIGLA Gene
chr2:70,777,310-70,790,643
(GRCh38/hg38)
Size:
13,334 bases
Orientation:
Minus strand
chr2:71,004,442-71,017,775
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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

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

No data available for UniProtKB/Swiss-Prot for FIGLA Gene

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.

Phenotypes From GWAS Catalog for FIGLA Gene

Gene Ontology (GO) - Molecular Function for FIGLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0008134 transcription factor binding IPI 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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FIGLA gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for FIGLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IDA 15044608
genes like me logo Genes that share ontologies with FIGLA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FIGLA Gene

Pathways & Interactions for FIGLA Gene

SuperPathways for FIGLA Gene

SuperPathway Contained pathways
1 Ovarian Infertility Genes
genes like me logo Genes that share pathways with FIGLA: view

Pathways by source for FIGLA Gene

1 BioSystems pathway for FIGLA Gene

Gene Ontology (GO) - Biological Process for FIGLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with FIGLA: view

No data available for 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for FIGLA Gene



NURSA nuclear receptor signaling pathways regulating expression of FIGLA Gene:

FIGLA

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.

Evidence on tissue expression from TISSUES for FIGLA Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FIGLA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
Regions:
Head and neck:
  • brain
  • head
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • uterus
  • vagina
  • vulva
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with FIGLA: view

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
chimpanzee
(Pan troglodytes)
Mammalia FIGLA 34 33
  • 99.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FIGLA 34 33
  • 84.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FIGLA 34 33
  • 79.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Figla 33
  • 76.08 (n)
mouse
(Mus musculus)
Mammalia Figla 16 34 33
  • 74.47 (n)
oppossum
(Monodelphis domestica)
Mammalia FIGLA 34
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii figla 34 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
OneToOne
Species where no ortholog for FIGLA was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FIGLA: view image

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 Variation AA Info Type
rs150205874 likely-benign, Premature ovarian failure 70,777,314(-) T/G 3_prime_UTR_variant
rs199650129 likely-benign, Premature ovarian failure 70,787,799(-) T/A coding_sequence_variant, synonymous_variant
rs199702150 uncertain-significance, Premature ovarian failure 70,787,785(-) C/T coding_sequence_variant, missense_variant
rs200500974 uncertain-significance, Premature ovarian failure 70,785,581(-) G/A coding_sequence_variant, missense_variant
rs201941812 uncertain-significance, Premature ovarian failure 70,785,458(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for FIGLA Gene

Variant ID Type Subtype PubMed ID
esv2762674 CNV gain 21179565
esv3892614 CNV gain 25118596
nsv1146915 OTHER inversion 26484159
nsv477319 CNV novel sequence insertion 20440878
nsv582192 CNV loss 21841781

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)

Additional Variant Information for FIGLA Gene

Human Gene Mutation Database (HGMD)
FIGLA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FIGLA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FIGLA Gene

Disorders for FIGLA Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for 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 HM (Molecular human reproduction 2002) 2 3 4 22 58
  2. Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary. (PMID: 15044608) Bayne RA … Anderson RA (Molecular human reproduction 2004) 3 4 22 58
  3. Zona pellucida components are present in human fetal ovary before follicle formation. (PMID: 18502569) Törmälä RM … Vaskivuo TE (Molecular and cellular endocrinology 2008) 3 22 58
  4. Transcription factor FIGLA is mutated in patients with premature ovarian failure. (PMID: 18499083) Zhao H … Rajkovic A (American journal of human genetics 2008) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for FIGLA Gene

Sources for FIGLA Gene

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