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

Gene ID: 2257, updated on 8-Dec-2018

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
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; 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. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Expression
Biased expression in heart (RPKM 20.8), brain (RPKM 14.1) and 2 other tissues See more
Orthologs

Genomic context

See FGF12 in Genome Data Viewer
Location:
3q28-q29
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (192139393..192727599, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (191857033..192445388, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374277 Neighboring gene RNA, 7SK small nuclear pseudogene 222 Neighboring gene FGF12 antisense RNA 1 Neighboring gene FGF12 antisense RNA 2 Neighboring gene uncharacterized LOC107986028 Neighboring gene uncharacterized LOC107986056 Neighboring gene RNA, U1 small nuclear 20, pseudogene Neighboring gene Mab-21 domain containing 2

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epileptic encephalopathy, early infantile, 47
MedGen: C4310685 OMIM: 617166 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
NHGRI GWA Catalog

Pathways from BioSystems

  • Breast cancer, organism-specific biosystem (from KEGG)
    Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Breast cancer, conserved biosystem (from KEGG)
    Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Melanoma, organism-specific biosystem (from KEGG)
    Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Melanoma, conserved biosystem (from KEGG)
    Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton

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
 
ion channel binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle cell action potential involved in contraction NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
heart development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cation channel activity IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neuromuscular process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
regulation of neuronal action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
regulation of sodium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of sodium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of voltage-gated sodium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular space TAS
Traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_051966.1 RefSeqGene

    Range
    323551..593207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004113.5NP_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, ENST00000445105.6
    Conserved Domains (1) summary
    smart00442
    Location:9139
    FGF; Acidic and basic fibroblast growth factor family
  2. NM_021032.4NP_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) encodes a longer isoform (1)
    Source sequence(s)
    AC073363, AC128710, AK313671
    Consensus CDS
    CCDS3301.1
    UniProtKB/Swiss-Prot
    P61328
    Related
    ENSP00000413496.2, ENST00000454309.6
    Conserved Domains (1) summary
    smart00442
    Location:71201
    FGF; Acidic and basic fibroblast growth factor family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    192139393..192727599 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247227.2XP_005247284.1  fibroblast growth factor 12 isoform X1

    See identical proteins and their annotated locations for XP_005247284.1

    Conserved Domains (1) summary
    smart00442
    Location:35165
    FGF; Acidic and basic fibroblast growth factor family
  2. XM_006713538.3XP_006713601.1  fibroblast growth factor 12 isoform X2

    Conserved Domains (1) summary
    smart00442
    Location:6136
    FGF; Acidic and basic fibroblast growth factor family
  3. XM_024453395.1XP_024309163.1  fibroblast growth factor 12 isoform X3

    Related
    ENSP00000412904.1, ENST00000448795.5
    Conserved Domains (1) summary
    smart00442
    Location:1115
    FGF; Acidic and basic fibroblast growth factor family
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