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FCHSD2 FCH and double SH3 domains 2 [ Homo sapiens (human) ]

Gene ID: 9873, updated on 9-Dec-2018

Summary

Official Symbol
FCHSD2provided by HGNC
Official Full Name
FCH and double SH3 domains 2provided by HGNC
Primary source
HGNC:HGNC:29114
See related
Ensembl:ENSG00000137478 MIM:617556
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
NWK; SH3MD3
Expression
Ubiquitous expression in spleen (RPKM 18.6), lymph node (RPKM 17.3) and 25 other tissues See more
Orthologs

Genomic context

See FCHSD2 in Genome Data Viewer
Location:
11q13.4
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (72836743..73142682, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (72547788..72853727, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 10 Neighboring gene uncharacterized LOC105369380 Neighboring gene uncharacterized LOC107984421 Neighboring gene microRNA 4692 Neighboring gene autophagy related 16 like 2 Neighboring gene RNA, U6 small nuclear 672, pseudogene Neighboring gene ribosomal protein L15 pseudogene 16 Neighboring gene uncharacterized LOC105369381 Neighboring gene purinergic receptor P2Y2

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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
NHGRI GWA Catalog
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0769

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
F-BAR and double SH3 domains protein 2
Names
FCH and double SH3 domains protein 2
SH3 multiple domains 3
SH3 multiple domains protein 3
carom
nervous wreck homolog

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.

mRNA and Protein(s)

  1. NM_014824.3NP_055639.2  F-BAR and double SH3 domains protein 2

    See identical proteins and their annotated locations for NP_055639.2

    Status: VALIDATED

    Source sequence(s)
    AP002381, AP002455, AP004241
    Consensus CDS
    CCDS8218.2
    UniProtKB/Swiss-Prot
    O94868
    Related
    ENSP00000386722.4, ENST00000409418.8
    Conserved Domains (3) summary
    cd07677
    Location:16275
    F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
    cd11761
    Location:471527
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11894
    Location:571626
    SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2

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_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    72836743..73142682 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545409.1XP_011543711.1  F-BAR and double SH3 domains protein 2 isoform X1

    Conserved Domains (3) summary
    cd07677
    Location:1254
    F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
    cd11761
    Location:450506
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11894
    Location:550605
    SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2
  2. XM_017018632.1XP_016874121.1  F-BAR and double SH3 domains protein 2 isoform X1

    Conserved Domains (3) summary
    cd07677
    Location:1254
    F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
    cd11761
    Location:450506
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11894
    Location:550605
    SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2
  3. XM_011545410.2XP_011543712.1  F-BAR and double SH3 domains protein 2 isoform X2

    Conserved Domains (3) summary
    cd11761
    Location:446502
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11894
    Location:546601
    SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2
    cl12013
    Location:30250
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. XR_001748055.1 RNA Sequence

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