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

    Gene ID: 2257, updated on 5-Mar-2024

    Summary

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    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

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. 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. Seiffert S, et al. EBioMedicine, 2022 Sep. PMID 36029553, Free PMC Article
    2. 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. Velíšková J, et al. Epilepsia, 2021 Jul. PMID 33982289, Free PMC Article
    3. Ca(2+)-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors. Mahling R, et al. J Biol Chem, 2021 Jan-Jun. PMID 33639159, Free PMC Article
    4. A functional variant rs1464938 in the promoter of fibroblast growth factor 12 is associated with an increased risk of bladder transitional cell carcinoma. Wu J, et al. Cytokine, 2020 Dec. PMID 32950810
    5. Defining the phenotype of FHF1 developmental and epileptic encephalopathy. Trivisano M, et al. Epilepsia, 2020 Jul. PMID 32645220, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
      Title: Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
    9. 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.
    10. 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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    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
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 
    Process Evidence Code Pubs
    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
    		  
    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 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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    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_001377292.1 → 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

    2. 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

    3. 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

    4. 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

    5. 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_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_005247227.3 → 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

    2. 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

    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_054345668.1 → XP_054201643.1  fibroblast growth factor 12 isoform X1

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61328.1 GenPept UniProtKB/Swiss-Prot:P61328

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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