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

Gene ID: 9873, updated on 10-Dec-2024

Summary

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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; AllianceGenome:HGNC:29114
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; NWK1; SH3MD3
Summary
Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in clathrin-dependent endocytosis and positive regulation of Arp2/3 complex-mediated actin nucleation. Located in clathrin-coated pit and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in spleen (RPKM 18.6), lymph node (RPKM 17.3) and 25 other tissues See more
Orthologs
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Genomic context

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See FCHSD2 in Genome Data Viewer
Location:
11q13.4
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72836745..73142318, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72764983..73070534, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (72547790..72853363, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72497138-72498136 Neighboring gene StAR related lipid transfer domain containing 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72498137-72499133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72503217-72503716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:72509227-72509964 Neighboring gene uncharacterized LOC107984421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5209 Neighboring gene microRNA 4692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72537383-72537883 Neighboring gene autophagy related 16 like 2 Neighboring gene NANOG hESC enhancer GRCh37_chr11:72559943-72560444 Neighboring gene RNA, U6 small nuclear 672, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15519 Neighboring gene ribosomal protein L15 pseudogene 16 Neighboring gene MPRA-validated peak1347 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72851339-72851960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72851961-72852582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5226 Neighboring gene Sharpr-MPRA regulatory region 14106 Neighboring gene imatinib upregulated ABL suppressing lncRNA 1 Neighboring gene uncharacterized LOC124902709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72929160-72929878

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. [Pulmonary edema in hangings]. Petitjean C, et al. Ann Anesthesiol Fr, 1975. PMID 9873
  2. Endocytosis and membrane receptor internalization: implication of F-BAR protein Carom. Xu Y, et al. Front Biosci (Landmark Ed), 2017 Mar 1. PMID 28199211, Free PMC Article
  3. FCHSD2 predicts response to chemotherapy in acute myeloid leukemia patients. Han Y, et al. Leuk Res, 2012 Nov. PMID 22902056
  4. FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking. Xiao GY, et al. PLoS Biol, 2020 Jul. PMID 32678845, Free PMC Article
  5. Endosomal actin branching, fission, and receptor recycling require FCHSD2 recruitment by MICAL-L1. Frisby D, et al. Mol Biol Cell, 2024 Nov 1. PMID 39382837,

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Endosomal actin branching, fission, and receptor recycling require FCHSD2 recruitment by MICAL-L1.
    Title: Endosomal actin branching, fission, and receptor recycling require FCHSD2 recruitment by MICAL-L1.
  2. FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
    Title: FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
  3. FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking.
    Title: FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking.
  4. Loss of FCHSD2 activity in nonsmall cell lung cancer (NSCLC) cells leads to increased cell-surface expression and altered signaling downstream of EGFR, resulting in enhanced cell proliferation and migration.
    Title: Role for ERK1/2-dependent activation of FCHSD2 in cancer cell-selective regulation of clathrin-mediated endocytosis.
  5. Established 3 models of Carom-receptor complexes and their intracellular trafficking based on protein interaction and subcellular localization. Carom may mediate receptor endocytosis and transport endocytic receptors to the cytoplasm for receptor signaling and lysosome/proteasome degradation. Review.
    Title: Endocytosis and membrane receptor internalization: implication of F-BAR protein Carom.
  6. A novel SNP-systemic lupus erythematosus association was identified between FCHSD2 and P2RY2, peaking at rs11235667 on a 33-kb haplotype upstream of ATG16L2.
    Title: Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.
  7. our study, for the first time, demonstrates FCHSD2 as a predictor of outcome for Acute myeloid leukemia patients
    Title: FCHSD2 predicts response to chemotherapy in acute myeloid leukemia patients.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
EBI GWAS 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.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0769

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3,4-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in clathrin-dependent endocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane organization IEA
Inferred from Electronic Annotation
more info
  
involved_in neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of Arp2/3 complex-mediated actin nucleation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with clathrin-coated pit IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in stereocilium shaft ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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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
protein nervous wreck 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_014824.3 → NP_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
    B4DNI3, O94868, Q7L8J9, Q8WVM2, Q96FV7, Q9UF77
    Related
    ENSP00000386722.4, ENST00000409418.9
    Conserved Domains (3) summary
    cd07677
    Location:16 → 275
    F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
    cd11761
    Location:471 → 527
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11894
    Location:571 → 626
    SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    72836745..73142318 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    E7ENZ2
    Conserved Domains (3) summary
    cd07677
    Location:1 → 254
    F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
    cd11761
    Location:450 → 506
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11894
    Location:550 → 605
    SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2

  2. XM_011545410.3 → XP_011543712.1  F-BAR and double SH3 domains protein 2 isoform X2

    UniProtKB/TrEMBL
    E7ENZ2
    Conserved Domains (3) summary
    cd11761
    Location:446 → 502
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11894
    Location:546 → 601
    SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2
    cl12013
    Location:30 → 250
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  3. XM_047427949.1 → XP_047283905.1  F-BAR and double SH3 domains protein 2 isoform X3

    UniProtKB/TrEMBL
    E7ENZ2
    Related
    ENSP00000308978.7, ENST00000311172.11

  4. XM_047427950.1 → XP_047283906.1  F-BAR and double SH3 domains protein 2 isoform X4

    Related
    ENSP00000386314.1, ENST00000409853.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    72764983..73070534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370677.1 → XP_054226652.1  F-BAR and double SH3 domains protein 2 isoform X1

    UniProtKB/TrEMBL
    E7ENZ2

  2. XM_054370678.1 → XP_054226653.1  F-BAR and double SH3 domains protein 2 isoform X2

    UniProtKB/TrEMBL
    E7ENZ2

  3. XM_054370679.1 → XP_054226654.1  F-BAR and double SH3 domains protein 2 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94868.3 GenPept UniProtKB/Swiss-Prot:O94868

Gene LinkOut

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

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