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FGF17 fibroblast growth factor 17 [ Homo sapiens (human) ]

Gene ID: 8822, updated on 7-Jun-2020

Summary

Official Symbol
FGF17provided by HGNC
Official Full Name
fibroblast growth factor 17provided by HGNC
Primary source
HGNC:HGNC:3673
See related
Ensembl:ENSG00000158815 MIM:603725
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HH20; FGF-13; FGF-17
Summary
This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family 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 protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See FGF17 in Genome Data Viewer
Location:
8p21.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22039708..22048809)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21900264..21906320)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene exportin 7 Neighboring gene VISTA enhancer hs783 Neighboring gene VISTA enhancer hs782 Neighboring gene nucleophosmin/nucleoplasmin 2 Neighboring gene VISTA enhancer hs781 Neighboring gene dematin actin binding protein Neighboring gene family with sequence similarity 160 member B2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
type 1 fibroblast growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
type 2 fibroblast growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
fibroblast growth factor 17

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033889.1 RefSeqGene

    Range
    4904..10893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304478.1NP_001291407.1  fibroblast growth factor 17 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001291407.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC091171, BM666883, DR159037
    Consensus CDS
    CCDS78310.1
    UniProtKB/Swiss-Prot
    O60258
    Related
    ENSP00000431041.1, ENST00000518533.5
    Conserved Domains (1) summary
    pfam00167
    Location:42164
    FGF; Fibroblast growth factor
  2. NM_003867.4NP_003858.1  fibroblast growth factor 17 isoform 1 precursor

    See identical proteins and their annotated locations for NP_003858.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC091171, BC105131, BM666883
    Consensus CDS
    CCDS6019.1
    UniProtKB/Swiss-Prot
    O60258
    Related
    ENSP00000352414.3, ENST00000359441.4
    Conserved Domains (1) summary
    pfam00167
    Location:53175
    FGF; Fibroblast growth factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    22039708..22048809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544684.2XP_011542986.1  fibroblast growth factor 17 isoform X2

    See identical proteins and their annotated locations for XP_011542986.1

    Conserved Domains (1) summary
    pfam00167
    Location:69191
    FGF; Fibroblast growth factor
  2. XM_011544683.1XP_011542985.1  fibroblast growth factor 17 isoform X2

    See identical proteins and their annotated locations for XP_011542985.1

    Conserved Domains (1) summary
    pfam00167
    Location:69191
    FGF; Fibroblast growth factor
  3. XM_011544685.1XP_011542987.1  fibroblast growth factor 17 isoform X3

    Conserved Domains (1) summary
    pfam00167
    Location:58180
    FGF; Fibroblast growth factor
  4. XM_005273675.1XP_005273732.1  fibroblast growth factor 17 isoform X1

    See identical proteins and their annotated locations for XP_005273732.1

    Related
    ENST00000524314.1
    Conserved Domains (1) summary
    pfam00167
    Location:76198
    FGF; Fibroblast growth factor
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