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

Gene ID: 10818, updated on 25-Nov-2021

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
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
Expression
Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.6) and 25 other tissues See more
Orthologs
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Genomic context

See FRS2 in Genome Data Viewer
Location:
12q15
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (69470371..69579793)
105.20201022 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 small nucleolar RNA, H/ACA box 113 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

Associated conditions

Description Tests
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

  • D12S1680 (e-PCR), detects polymorphism

Homology

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 fibroblast growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transmembrane receptor protein tyrosine phosphatase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

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)

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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.

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
    Q8WU20
    UniProtKB/TrEMBL
    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
    Q8WU20
    UniProtKB/TrEMBL
    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
    Q8WU20
    UniProtKB/TrEMBL
    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
    Q8WU20
    UniProtKB/TrEMBL
    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
    Q8WU20
    UniProtKB/TrEMBL
    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
    Q8WU20
    UniProtKB/TrEMBL
    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
    Q8WU20
    UniProtKB/TrEMBL
    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
    Q8WU20
    UniProtKB/TrEMBL
    L7RTG7
    Conserved Domains (1) summary
    cd01202
    Location:15106
    PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    69470371..69579793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q8WU20
    UniProtKB/TrEMBL
    L7RTG7
    Conserved Domains (1) summary
    cd01202
    Location:15106
    PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
  2. XM_017018717.1XP_016874206.1  fibroblast growth factor receptor substrate 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8WU20
    UniProtKB/TrEMBL
    L7RTG7
    Conserved Domains (1) summary
    cd01202
    Location:15106
    PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
  3. XM_017018719.1XP_016874208.1  fibroblast growth factor receptor substrate 2 isoform X1

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