FGF8 fibroblast growth factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF8provided by HGNC
Official Full Name: fibroblast growth factor 8provided by HGNC
Primary source: HGNC:HGNC:3686
See related: Ensembl:ENSG00000107831 MIM:600483; AllianceGenome:HGNC:3686
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: HH6; AIGF; KAL6; FGF-8; HBGF-8
Summary: 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 protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 10q24.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (101770109..101780369, complement)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (102653607..102663864, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (103529866..103540126, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unveiling the Significance of FGF8 Overexpression in Orchestrating the Progression of Ovarian Cancer.
Title: Unveiling the Significance of FGF8 Overexpression in Orchestrating the Progression of Ovarian Cancer.
NMR resonance assignment of a fibroblast growth factor 8 splicing isoform b.
Title: NMR resonance assignment of a fibroblast growth factor 8 splicing isoform b.
FGF8 and BMP2 mediated dynamic regulation of dental mesenchyme proliferation and differentiation via Lhx8/Suv39h1 complex.
Title: FGF8 and BMP2 mediated dynamic regulation of dental mesenchyme proliferation and differentiation via Lhx8/Suv39h1 complex.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Title: Position effects at the FGF8 locus are associated with femoral hypoplasia.
Dissecting the Interaction of FGF8 with Receptor FGFRL1.
Title: Dissecting the Interaction of FGF8 with Receptor FGFRL1.
Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects.
Title: Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects.
FGF8 induces epithelial-mesenchymal transition and promotes metastasis in oral squamous cell carcinoma.
Title: FGF8 induces epithelial-mesenchymal transition and promotes metastasis in oral squamous cell carcinoma.
FGF8, FGF10 and FGF receptor 2 in foreskin of children with hypospadias: an analysis of immunohistochemical expression patterns and gene transcription.
Title: FGF8, FGF10 and FGF receptor 2 in foreskin of children with hypospadias: an analysis of immunohistochemical expression patterns and gene transcription.
The FGF8 is promising candidates for prognostic factors in adenocarcinomas of the esophago-gastric junction and new potential targets for new anti-cancer therapies.
Title: Expression of FGF8, FGF18, and FGFR4 in Gastroesophageal Adenocarcinomas.
A missense mutation of FGF8 causing isiolated congenital anosmia is reported.
Title: A novel FGF8 mutation in a female patient with isolated congenital anosmia.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Holoprosencephaly sequence MedGen: C0079541 GeneReviews: Holoprosencephaly Overview	Compare labs
Hypogonadotropic hypogonadism 6 with or without anosmia MedGen: C3552574 OMIM: 612702 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fgf8 (e-PCR), detects polymorphism
- UniSTS:506892

Fgf8 (e-PCR), detects polymorphism
- UniSTS:273724

NoName (e-PCR)
- UniSTS:483139

RH18043 (e-PCR)
- UniSTS:64634

D1Bda63 (e-PCR)
- UniSTS:239816

Fgf8 (e-PCR), detects polymorphism
- UniSTS:258274

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chemoattractant activity	IEA Inferred from Electronic Annotation more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables type 1 fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables type 1 fibroblast growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables type 1 fibroblast growth factor receptor binding	IEA Inferred from Electronic Annotation more info
enables type 2 fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables type 2 fibroblast growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables type 2 fibroblast growth factor receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in dopaminergic neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
involved_in dorsal/ventral axon guidance	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in forebrain neuron development	IEA Inferred from Electronic Annotation more info
involved_in gastrulation	NAS Non-traceable Author Statement more info	PubMed
involved_in gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesonephros development	IEP Inferred from Expression Pattern more info	PubMed
involved_in metanephros development	IEP Inferred from Expression Pattern more info	PubMed
involved_in motor neuron axon guidance	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuroepithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in odontogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in outflow tract septum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in outflow tract septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fibroblast growth factor 8

Names: androgen-induced growth factor; fibroblast growth factor 8 (androgen-induced); heparin-binding growth factor 8

NCBI Reference Sequences (RefSeq)

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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

NG_007151.1 RefSeqGene

Range

4957..10962

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206389.2 → NP_001193318.1 fibroblast growth factor 8 isoform G

See identical proteins and their annotated locations for NP_001193318.1

Status: REVIEWED

Description

Transcript Variant: This variant (G) has an alternate 5' exon and lacks an internal segment in the 5' region, compared to variant F. The encoded isoform (G) is shorter at the N-terminus, compared to isoform F.

Source sequence(s)

AC010789, CN369230

Consensus CDS

CCDS73185.1

UniProtKB/TrEMBL

A0A087X1S5

Related

ENSP00000484420.1, ENST00000618991.5

Conserved Domains (1) summary

pfam00167
Location:1 → 100

FGF; Fibroblast growth factor
NM_006119.6 → NP_006110.1 fibroblast growth factor 8 isoform B precursor

See identical proteins and their annotated locations for NP_006110.1

Status: REVIEWED

Description

Transcript Variant: This variant (B) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (B) is shorter than isoform F.

Source sequence(s)

AC010789, BC128236, U36223

Consensus CDS

CCDS7515.1

UniProtKB/TrEMBL

A1A515

Related

ENSP00000321945.2, ENST00000347978.2

Conserved Domains (1) summary

pfam00167
Location:52 → 175

FGF; Fibroblast growth factor
NM_033163.5 → NP_149353.1 fibroblast growth factor 8 isoform F precursor

See identical proteins and their annotated locations for NP_149353.1

Status: REVIEWED

Description

Transcript Variant: This variant (F) encodes the longest isoform (F).

Source sequence(s)

AC010789, BC069106, BC128236

Consensus CDS

CCDS7516.1

UniProtKB/TrEMBL

A1A515

Related

ENSP00000321797.2, ENST00000320185.7

Conserved Domains (1) summary

pfam00167
Location:81 → 204

FGF; Fibroblast growth factor
NM_033164.4 → NP_149354.1 fibroblast growth factor 8 isoform E precursor

See identical proteins and their annotated locations for NP_149354.1

Status: REVIEWED

Description

Transcript Variant: This variant (E) uses an alternate splice site, compared to variant F. The encoded isoform (E) is shorter than isoform F.

Source sequence(s)

AC010789, BC128236, U46213

Consensus CDS

CCDS7517.1

UniProtKB/Swiss-Prot

A1A514, P55075, Q14915, Q15766

UniProtKB/TrEMBL

A1A515

Related

ENSP00000340039.3, ENST00000344255.8

Conserved Domains (1) summary

pfam00167
Location:70 → 193

FGF; Fibroblast growth factor
NM_033165.5 → NP_149355.1 fibroblast growth factor 8 isoform A precursor

See identical proteins and their annotated locations for NP_149355.1

Status: REVIEWED

Description

Transcript Variant: This variant (A) lacks an in-frame exon and uses an alternate splice site, compared to variant F. The encoded isoform (A) is shorter than isoform F.

Source sequence(s)

AC010789, BC128236

Consensus CDS

CCDS7518.1

UniProtKB/TrEMBL

A1A515

Related

ENSP00000344306.3, ENST00000346714.7

Conserved Domains (1) summary

pfam00167
Location:41 → 164

FGF; Fibroblast growth factor