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FGF13

FGF13
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFGF13, FGF-13, FGF2, FHF-2, FHF2, fibroblast growth factor 13
External IDsOMIM: 300070 MGI: 109178 HomoloGene: 3036 GeneCards: FGF13
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for FGF13
Genomic location for FGF13
BandXq26.3-q27.1Start138,614,727 bp[1]
End139,222,777 bp[1]
RNA expression pattern
PBB GE FGF13 205110 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001290414
NM_001290415
NM_010200
NM_001356335

RefSeq (protein)

NP_001277343
NP_001277344
NP_034330
NP_001343264

Location (UCSC)Chr X: 138.61 – 139.22 MbChr X: 59.06 – 59.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Fibroblast growth factor 13 is a protein that in humans is encoded by the FGF13 gene.[5][6]

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located to a region associated with Börjeson-Forssman-Lehmann syndrome (BFLS), a syndromal X-linked intellectual disability, which suggests it may be a candidate gene for familial cases of the BFL syndrome. The function of this gene has not yet been determined. Two alternatively spliced transcripts encoding different isoforms have been described for this gene.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129682 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031137 - Ensembl, 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. ^ Smallwood PM, Munoz-Sanjuan I, Tong P, Macke JP, Hendry SH, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J (Oct 1996). "Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development". Proc Natl Acad Sci U S A. 93 (18): 9850–7. doi:10.1073/pnas.93.18.9850. PMC 38518. PMID 8790420.
  6. ^ a b "Entrez Gene: FGF13 fibroblast growth factor 13".

Further reading