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

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; 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 plasma membrane. Colocalizes with clathrin-coated pit. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen (RPKM 18.6), lymph node (RPKM 17.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (72836745..73142318, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (72764983..73070534, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (72547790..72853363, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking.
Title: FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

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

D11S1369 (e-PCR)
- UniSTS:29703

WI-14005 (e-PCR)
- UniSTS:1821

G09449 (e-PCR)
- UniSTS:12077

RH47602 (e-PCR)
- UniSTS:6211

SHGC-112106 (e-PCR)
- UniSTS:182369

SGC35189 (e-PCR)
- UniSTS:83047

A004W08 (e-PCR)
- UniSTS:10602

D11S4184 (e-PCR), detects polymorphism
- UniSTS:31356

SGC38375 (e-PCR)
- UniSTS:30845

RH66566 (e-PCR)
- UniSTS:29094

RH46086 (e-PCR)
- UniSTS:73438

RH12388 (e-PCR)
- UniSTS:64482

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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

72836745..73142318 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000308978.7, ENST00000311172.11
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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

72764983..73070534 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370677.1 → XP_054226652.1 F-BAR and double SH3 domains protein 2 isoform X1
XM_054370678.1 → XP_054226653.1 F-BAR and double SH3 domains protein 2 isoform X2
XM_054370679.1 → XP_054226654.1 F-BAR and double SH3 domains protein 2 isoform X4