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

    Gene ID: 2257, updated on 23-Nov-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FGF12 in Genome Data Viewer
    Location:
    3q28-q29
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (192139390..192727541, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (194835241..195423480, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (191857179..192445330, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906318 Neighboring gene RN7SK pseudogene 222 Neighboring gene Sharpr-MPRA regulatory region 9727 Neighboring gene NANOG hESC enhancer GRCh37_chr3:191903818-191904328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15006 Neighboring gene uncharacterized LOC124906320 Neighboring gene FGF12 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67460 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:192134687-192135404 Neighboring gene Sharpr-MPRA regulatory region 7499 Neighboring gene Sharpr-MPRA regulatory region 196 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:192233174-192234373 Neighboring gene small nucleolar RNA U13 Neighboring gene FGF12 antisense RNA 2 Neighboring gene FGF12 antisense RNA 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20991 Neighboring gene uncharacterized LOC124906319 Neighboring gene NANOG hESC enhancer GRCh37_chr3:192418547-192419211 Neighboring gene uncharacterized LOC107986056 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:192462179-192462769 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:192464852-192465402 Neighboring gene RNA, U1 small nuclear 20, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:192508213-192509412 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:192542821-192542997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20997 Neighboring gene Mab-21 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:192632483-192632983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15007

    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?

    Phenotypes

    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
    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
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    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

    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)

    NEW Try the new Transcript table

    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
      5059..593210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001377292.1NP_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:599
      FGF; Fibroblast growth factor
    2. NM_001377293.1NP_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:1112
      FGF; Fibroblast growth factor
    3. NM_001377294.1NP_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:1112
      FGF; Fibroblast growth factor
    4. NM_004113.6NP_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:12136
      FGF; Fibroblast growth factor
    5. NM_021032.5NP_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:74198
      FGF; Fibroblast growth factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      192139390..192727541 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247227.3XP_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:38162
      FGF; Fibroblast growth factor
    2. XM_006713538.4XP_006713601.1  fibroblast growth factor 12 isoform X2

      Conserved Domains (1) summary
      smart00442
      Location:6136
      FGF; Acidic and basic fibroblast growth factor family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      194835241..195423480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345668.1XP_054201643.1  fibroblast growth factor 12 isoform X1

    2. XM_054345669.1XP_054201644.1  fibroblast growth factor 12 isoform X2