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FIGLA

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
FIGLA
Identifiers
AliasesFIGLA, BHLHC8, FIGALPHA, POF6, folliculogenesis specific bHLH transcription factor
External IDsOMIM:608697;MGI:1349421;HomoloGene:49294;GeneCards:FIGLA;OMA:FIGLA - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for FIGLA
Genomic location for FIGLA
Band2p13.3Start70,777,310bp[1]
End70,790,643bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for FIGLA
Genomic location for FIGLA
Band6|6 C3Start85,993,153bp[2]
End85,997,978bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • secondary oocyte

  • testicle

  • gonad

  • body of pancreas

  • gastric mucosa

  • myometrium

  • abdominal wall

  • body of uterus

  • right ovary
Top expressed in
  • primary oocyte

  • embryo

  • ovarian follicle cell

  • secondary oocyte

  • secondary follicle of ovary

  • zygote

  • lens

  • primary follicle of ovary

  • spermatid

  • spermatocyte
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

344018

26910

Ensembl

ENSG00000183733

ENSMUSG00000030001

UniProt

Q6QHK4

O55208

RefSeq (mRNA)

NM_001004311

NM_012013

RefSeq (protein)

NP_001004311

NP_036143

Location (UCSC)Chr 2: 70.78 – 70.79 MbChr 6: 85.99 – 86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Folliculogenesis-specific basic helix-loop-helix, also known asfactor in the germline alpha (FIGalpha) ortranscription factor FIGa, is aprotein that in humans is encoded by theFIGLAgene.[5][6] The FIGLA gene is a germ cell-specific transcription factor preferentially expressed in oocytes that can be found on human chromosome 2p13.3.

Function

[edit]

This gene encodes a protein that functions in postnataloocyte-specific gene expression. The protein is abasic helix-loop-helix transcription factor that regulates multipleoocyte-specific genes, including genes involved infolliculogenesis, oocyte differentiation, and those that encode thezona pellucida.[5] FIGLA is related to the zona pellucida genes ZP1, ZP2, and ZP3.

Clinical significance

[edit]

Mutation in the FIGLA gene are associated withpremature ovarian failure.[7] Premature ovarian failure is a genetic disorder that leads to hypergonadotropic ovarian failure and infertility. It is believed that premature ovarian failure in humans is caused by FIGLA haploninsuffciency, which disrupts the formation of the primordial follicles.[7][8] This was observed in FIGLA mice knockouts which had diminished follicular endowment and accelerated oocyte loss throughout their reproductive life span.[7][8] Women with mutations in their FIGLA were shown to have a form of premature ovarian failure.[7][8] As well as the failure to form primordial follicles, knockout mice also lacked zona pellucida genes Zp1, Zp2, and ZP3 expression.[8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000183733Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000030001Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ab"Entrez Gene: folliculogenesis specific basic helix-loop-helix".
  6. ^Huntriss J, Gosden R, Hinkins M, Oliver B, Miller D, Rutherford AJ, Picton HM (December 2002)."Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes".Molecular Human Reproduction.8 (12):1087–95.doi:10.1093/molehr/8.12.1087.PMID 12468641.
  7. ^abcdZhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A (June 2008)."Transcription factor FIGLA is mutated in patients with premature ovarian failure".American Journal of Human Genetics.82 (6):1342–8.doi:10.1016/j.ajhg.2008.04.018.PMC 2427265.PMID 18499083.
  8. ^abcdFowler PA, Flannigan S, Mathers A, Gillanders K, Lea RG, Wood MJ, Maheshwari A, Bhattacharya S, Collie-Duguid ES, Baker PJ, Monteiro A, O'Shaughnessy PJ (April 2009)."Gene expression analysis of human fetal ovarian primordial follicle formation".The Journal of Clinical Endocrinology and Metabolism.94 (4):1427–35.doi:10.1210/jc.2008-2619.PMID 19258411.

Further reading

[edit]
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous


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