FGF12 fibroblast growth factor 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF12provided by HGNC
Official Full Name: fibroblast growth factor 12provided by HGNC
Primary source: HGNC:HGNC:3668
See related: Ensembl:ENSG00000114279 MIM:601513; AllianceGenome:HGNC:3668
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: FHF1; DEE47; EIEE47; FGF12B
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 growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]
Expression: Biased expression in heart (RPKM 20.8), brain (RPKM 14.1) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q28-q29

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (192139390..192727541, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (194835241..195423480, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (191857179..192445330, complement)

Chromosome 3 - NC_000003.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
Title: Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Title: Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
A functional variant rs1464938 in the promoter of fibroblast growth factor 12 is associated with an increased risk of bladder transitional cell carcinoma.
Title: A functional variant rs1464938 in the promoter of fibroblast growth factor 12 is associated with an increased risk of bladder transitional cell carcinoma.
Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.
Title: Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.
HMGN5 promotes invasion and migration of colorectal cancer through activating FGF/FGFR pathway.
Title: HMGN5 promotes invasion and migration of colorectal cancer through activating FGF/FGFR pathway.
Ca(2+)-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors.
Title: Ca(2+)-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors.
FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner.
Title: FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Title: Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trio-based whole exome sequencing of the patient revealed no pathogenic single nucleotide variants causing epilepsy, but confirmed a 3q28q29 duplication involving FGF12, which encodes fibroblast growth factor 12.
Title: Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
Serum FGF21 levels were significantly elevated in Kawasaki disease (KD) patients, especially with coronary artery lesions (CALs). They were associated with levels of leukomonocytes %, CRP and albumin in KD patients. These observations indicate that high level of FGF21 may be a compensatory mechanism that plays a protective role in the antioxidant/ anti-inflammatory response during acute phase of KD.
Title: Increased levels of circulating fibroblast growth factor 21 in children with Kawasaki disease.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 47 MedGen: C4310685 OMIM: 617166 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2021-12-01) ClinGen Genome Curation PagePubMed Triplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2021-12-01) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia. EBI GWAS Catalog EBI GWAS CatalogPubMed
A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98771 (e-PCR)
- UniSTS:91395

RH16209 (e-PCR)
- UniSTS:27152

SHGC-107740 (e-PCR)
- UniSTS:173863

D3S3024 (e-PCR)
- UniSTS:39229

SHGC-56743 (e-PCR)
- UniSTS:65605

D3S3557 (e-PCR)
- UniSTS:63302

SHGC-77655 (e-PCR)
- UniSTS:4690

FGF12_2502 (e-PCR)
- UniSTS:280670

RH120893 (e-PCR)
- UniSTS:133727

D3S2888E (e-PCR)
- UniSTS:150881

RH8137 (e-PCR)
- UniSTS:86406

SHGC-80891 (e-PCR)
- UniSTS:102534

RH125623 (e-PCR)
- UniSTS:163222

RH123959 (e-PCR)
- UniSTS:136095

SGC36939 (e-PCR)
- UniSTS:6320

D3S2850E (e-PCR)
- UniSTS:37298

D3S2418 (e-PCR)
- UniSTS:56257

D3S3663 (e-PCR), detects polymorphism
- UniSTS:50640

SHGC-155771 (e-PCR)
- UniSTS:183760

SHGC-77662 (e-PCR)
- UniSTS:46801

RH91793 (e-PCR)
- UniSTS:92652

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables fibroblast growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within JNK cascade	IPI Inferred from Physical Interaction more info	PubMed
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell action potential involved in contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
NOT acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	TAS Traceable Author Statement more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuronal action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of sodium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of sodium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of voltage-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of voltage-gated sodium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

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

General protein information

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Preferred Names: fibroblast growth factor 12

Names: fibroblast growth factor 12B; fibroblast growth factor FGF-12b; fibroblast growth factor homologous factor 1; myocyte-activating factor

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_051966.1 RefSeqGene

Range

5059..593210

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001377292.1 → NP_001364221.1 fibroblast growth factor 12 isoform 3

Status: REVIEWED

Source sequence(s)

AC073363, AC079623, AC128710

Consensus CDS

CCDS93437.1

UniProtKB/TrEMBL

C9JEN8, C9JUK8

Related

ENSP00000410125.1, ENST00000430714.5

Conserved Domains (1) summary

pfam00167
Location:5 → 99

FGF; Fibroblast growth factor
NM_001377293.1 → NP_001364222.1 fibroblast growth factor 12 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variant 5, encodes isoform 4.

Source sequence(s)

AC073363, AC079623, AC128710

Consensus CDS

CCDS93436.1

UniProtKB/TrEMBL

A0A804HIN2, C9JUK8

Related

ENSP00000412904.1, ENST00000448795.5

Conserved Domains (1) summary

pfam00167
Location:1 → 112

FGF; Fibroblast growth factor
NM_001377294.1 → NP_001364223.1 fibroblast growth factor 12 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variant 4, encodes isoform 4.

Source sequence(s)

AC073363, AC128710

Consensus CDS

CCDS93436.1

UniProtKB/TrEMBL

A0A804HIN2, C9JUK8

Conserved Domains (1) summary

pfam00167
Location:1 → 112

FGF; Fibroblast growth factor
NM_004113.6 → NP_004104.3 fibroblast growth factor 12 isoform 2

See identical proteins and their annotated locations for NP_004104.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) contains a distinct and shorter C-terminus, as compared to isoform 1.

Source sequence(s)

AC128710, AK312513, DA521146

Consensus CDS

CCDS46983.1

UniProtKB/Swiss-Prot

P61328

Related

ENSP00000393686.1, ENST00000445105.7

Conserved Domains (1) summary

pfam00167
Location:12 → 136

FGF; Fibroblast growth factor
NM_021032.5 → NP_066360.1 fibroblast growth factor 12 isoform 1

See identical proteins and their annotated locations for NP_066360.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC073363, AC128710

Consensus CDS

CCDS3301.1

UniProtKB/Swiss-Prot

B2R6B7, B2R976, O35339, P61328, P70376, Q8TBG5, Q92912, Q93001

UniProtKB/TrEMBL

A0A7U3JVY3

Related

ENSP00000413496.2, ENST00000454309.7

Conserved Domains (1) summary

pfam00167
Location:74 → 198

FGF; Fibroblast growth factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

192139390..192727541 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005247227.3 → XP_005247284.1 fibroblast growth factor 12 isoform X1

See identical proteins and their annotated locations for XP_005247284.1

Conserved Domains (1) summary

pfam00167
Location:38 → 162

FGF; Fibroblast growth factor
XM_006713538.4 → XP_006713601.1 fibroblast growth factor 12 isoform X2

Conserved Domains (1) summary

smart00442
Location:6 → 136

FGF; Acidic and basic fibroblast growth factor family