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    FRS2 fibroblast growth factor receptor substrate 2 [ Homo sapiens (human) ]

    Gene ID: 10818, updated on 27-Nov-2024

    Summary

    Official Symbol
    FRS2provided by HGNC
    Official Full Name
    fibroblast growth factor receptor substrate 2provided by HGNC
    Primary source
    HGNC:HGNC:16971
    See related
    Ensembl:ENSG00000166225 MIM:607743; AllianceGenome:HGNC:16971
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SNT; SNT1; FRS1A; FRS2A; SNT-1; FRS2alpha
    Summary
    Enables fibroblast growth factor receptor binding activity and neurotrophin TRKA receptor binding activity. Involved in negative regulation of cardiac muscle cell differentiation. Acts upstream of or within fibroblast growth factor receptor signaling pathway. Located in adherens junction. Biomarker of renal cell carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FRS2 in Genome Data Viewer
    Location:
    12q15
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (69470388..69579793)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (69449328..69558701)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (69864168..69973573)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene YEATS domain containing 4 Neighboring gene ribosomal protein S26 pseudogene 45 Neighboring gene long intergenic non-protein coding RNA 2373 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:69860555-69861168 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69863839-69864340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6652 Neighboring gene MPRA-validated peak1784 silencer Neighboring gene small nucleolar RNA, H/ACA box 113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6653 Neighboring gene microRNA 3913-1 Neighboring gene microRNA 3913-2 Neighboring gene chaperonin containing TCP1 subunit 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    • D12S1680 (e-PCR), detects polymorphism

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in anterior/posterior axis specification, embryo IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor protein tyrosine phosphatase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    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 development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation with mouth forming second IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens fiber cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens placode formation involved in camera-type eye formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac muscle cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organ induction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vascular associated smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    fibroblast growth factor receptor substrate 2
    Names
    FGFR signalling adaptor
    FGFR substrate 2
    FGFR-signaling adaptor SNT
    epididymis secretory sperm binding protein
    suc1-associated neurotrophic factor target 1

    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.

    mRNA and Protein(s)

    1. NM_001042555.3NP_001036020.1  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_001036020.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 5' UTR, compared to variant 3. All variants encode the same protein.
      Source sequence(s)
      AC018921, BC021562, BP363404, CD677411, DA311708
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    2. NM_001278351.2NP_001265280.1  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_001265280.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. All variants encode the same protein.
      Source sequence(s)
      AC018921, BC021562, CD677411, DA189114, DR003634
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    3. NM_001278353.2NP_001265282.1  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_001265282.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences in the 5' UTR, compared to variant 3. All variants encode the same protein.
      Source sequence(s)
      AC018921, BC021562, BP230333, BU166503, CD677411, DA189114, DA311708
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    4. NM_001278354.2NP_001265283.1  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_001265283.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' UTR, compared to variant 3. All variants encode the same protein.
      Source sequence(s)
      AC018921, BC021562, CD677411, DA189114, DA721439, DR003634
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    5. NM_001278355.2NP_001265284.1  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_001265284.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences in the 5' UTR, compared to variant 3. All variants encode the same protein.
      Source sequence(s)
      AC018921, AK312477, BP311537, CD677411, DA311708, DB081843
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    6. NM_001278356.2NP_001265285.1  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_001265285.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks two exons in the 5' UTR, compared to variant 3. All variants encode the same protein.
      Source sequence(s)
      AC018921, AK312477, BP363404, CD677411, DA311708
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Related
      ENSP00000450048.1, ENST00000549921.6
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    7. NM_001278357.2NP_001265286.1  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_001265286.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks four exons in the 5' UTR, compared to variant 3. All variants encode the same protein.
      Source sequence(s)
      AC018921, AK312477, BC021562, CD677411, DA189114, DA311708
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Related
      ENSP00000447241.1, ENST00000550389.5
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    8. NM_006654.5NP_006645.3  fibroblast growth factor receptor substrate 2

      See identical proteins and their annotated locations for NP_006645.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an exon in the 5' UTR, compared to variant 3. All variants encode the same protein.
      Source sequence(s)
      AC018921, BC021562, BP230333, BP363404, CD677411, DA311708
      Consensus CDS
      CCDS41809.1
      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain

    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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      69470388..69579793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018718.2XP_016874207.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    2. XM_047428121.1XP_047284077.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    3. XM_017018717.2XP_016874206.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
    4. XM_047428118.1XP_047284074.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    5. XM_047428122.1XP_047284078.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    6. XM_047428119.1XP_047284075.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    7. XM_047428120.1XP_047284076.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    8. XM_047428123.1XP_047284079.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    9. XM_017018719.2XP_016874208.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      A0A384NQ31, L7RTG7
      Conserved Domains (1) summary
      cd01202
      Location:15106
      PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      69449328..69558701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370826.1XP_054226801.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    2. XM_054370830.1XP_054226805.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    3. XM_054370824.1XP_054226799.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    4. XM_054370825.1XP_054226800.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    5. XM_054370831.1XP_054226806.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    6. XM_054370827.1XP_054226802.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    7. XM_054370828.1XP_054226803.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    8. XM_054370832.1XP_054226807.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7
    9. XM_054370829.1XP_054226804.1  fibroblast growth factor receptor substrate 2 isoform X1

      UniProtKB/Swiss-Prot
      B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20
      UniProtKB/TrEMBL
      L7RTG7