CD2AP CD2 associated protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD2APprovided by HGNC
Official Full Name: CD2 associated proteinprovided by HGNC
Primary source: HGNC:HGNC:14258
See related: Ensembl:ENSG00000198087 MIM:604241; AllianceGenome:HGNC:14258
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMS
Summary: This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in small intestine (RPKM 31.9), duodenum (RPKM 29.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (47477789..47627263)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (47318653..47468952)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (47445525..47594999)

Chromosome 6 - NC_000006.12 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?

Alzheimer's disease susceptibility locus in CD2AP is associated with increased cerebrospinal fluid tau levels in mild cognitive impairment.
Title: Alzheimer's disease susceptibility locus in CD2AP is associated with increased cerebrospinal fluid tau levels in mild cognitive impairment.
Long non-coding RNA TTC28-AS1 attenuates high glucose-induced damage in HK-2 cells depending on the regulation of miR-320a/CD2AP axis.
Title: Long non-coding RNA TTC28-AS1 attenuates high glucose-induced damage in HK-2 cells depending on the regulation of miR-320a/CD2AP axis.
Association of the CD2AP locus with cognitive functioning among middle-aged individuals with a family history of Alzheimer's disease.
Title: Association of the CD2AP locus with cognitive functioning among middle-aged individuals with a family history of Alzheimer's disease.
Excessive apoptosis of podocytes caused by dysregulation of microRNA-182-5p and CD2AP confers to an increased risk of diabetic nephropathy.
Title: Excessive apoptosis of podocytes caused by dysregulation of microRNA-182-5p and CD2AP confers to an increased risk of diabetic nephropathy.
The authors demonstrate that CD2AP interaction with hypervariable domains of Chikungunya virus nsP3 is mediated by its SH3-A and SH3-C domains, and this leaves the SH3-B domain available for interaction with other cellular factor(s).
Title: Structural characterization and biological function of bivalent binding of CD2AP to intrinsically disordered domain of chikungunya virus nsP3 protein.
tyrosine in position Y10 of the SH3-1 domain of CD2AP is indispensable for CD2AP function in vivo.
Title: Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex.
The upregulation of CD2-associated protein (CD2AP) could attenuate gastric cancer (GC) metastasis, suggesting CD2AP as a biomarker for the prognosis and treatment of patients with GC.
Title: CD2AP inhibits metastasis in gastric cancer by promoting cellular adhesion and cytoskeleton assembly.
Study identified a homozygous frameshift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset focal segmental glomerulosclerosis (FSGS) and end stage renal disease. When the same mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. These results provide conclusive evidence that homozygous mutation of CD2AP causes FSGS in humans.
Title: Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.
PAWS1 interacts in a dynamic fashion with the actin/cytoskeletal regulator CD2AP at lamellae, suggesting that its association with CD2AP controls actin organization and cellular migration. Genetic ablation of CD2AP from U2OS cells instigates actin and cell migration defects reminiscent of those seen in PAWS1-knockout cells.
Title: PAWS1 controls cytoskeletal dynamics and cell migration through association with the SH3 adaptor CD2AP.
CD2AP is indicated as a protein up-regulated by HCV infection, which, in turn, stimulates HCV propagation and steatosis by disrupting insulin signaling; targeting CD2AP may offer an opportunity for alleviating HCV infection and its associated liver pathology
Title: CD2-Associated Protein Contributes to Hepatitis C, Virus Propagation and Steatosis by Disrupting Insulin Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (55)

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

Associated conditions

Description	Tests
Focal segmental glomerulosclerosis 3, susceptibility to MedGen: C1842982 OMIM: 607832 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Cellular biotinylated CD2-associated protein (CD2AP) protein is incorporated into HIV-1 Gag virus-like particles	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1352 (e-PCR)
- UniSTS:153603

RH70071 (e-PCR)
- UniSTS:72221

D6S1689 (e-PCR)
- UniSTS:16931

78 (e-PCR)
- UniSTS:22881

RH91996 (e-PCR)
- UniSTS:89455

SHGC-79935 (e-PCR)
- UniSTS:101503

RH46766 (e-PCR)
- UniSTS:10404

WI-17603 (e-PCR)
- UniSTS:63446

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables vascular endothelial growth factor receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of small GTPase mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transforming growth factor beta1 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of receptor-mediated endocytosis	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in substrate-dependent cell migration, cell extension	TAS Traceable Author Statement more info	PubMed
involved_in synapse organization	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta1 production	IEA Inferred from Electronic Annotation more info
involved_in vesicle organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cell leading edge	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
part_of filamentous actin	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: CD2-associated protein

Names: Cas ligand with multiple Src homology (SH) 3 domains; Cas ligand with multiple Src homology 3 (SH3) domains; adapter protein CMS; cas ligand with multiple SH3 domains

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.

Genomic

NG_008878.1 RefSeqGene

Range

5001..154475

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012120.3 → NP_036252.1 CD2-associated protein

See identical proteins and their annotated locations for NP_036252.1

Status: REVIEWED

Source sequence(s)

AL355353, AL356421, AL358178, BC069444, BU679191, DA040834

Consensus CDS

CCDS34472.1

UniProtKB/Swiss-Prot

Q9UG97, Q9Y5K6

Related

ENSP00000352264.5, ENST00000359314.5

Conserved Domains (3) summary

cd12053
Location:3 → 58

SH3_CD2AP_1; First Src Homology 3 domain (SH3A) of CD2-associated protein

cd12054
Location:111 → 165

SH3_CD2AP_2; Second Src Homology 3 domain (SH3B) of CD2-associated protein

cd12056
Location:271 → 327

SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

47477789..47627263

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005248976.2 → XP_005249033.1 CD2-associated protein isoform X1

Conserved Domains (3) summary

cd12053
Location:3 → 58

SH3_CD2AP_1; First Src Homology 3 domain (SH3A) of CD2-associated protein

cd12054
Location:111 → 165

SH3_CD2AP_2; Second Src Homology 3 domain (SH3B) of CD2-associated protein

cd12056
Location:267 → 323

SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein
XM_017010641.2 → XP_016866130.1 CD2-associated protein isoform X3
XM_011514449.3 → XP_011512751.1 CD2-associated protein isoform X2

Conserved Domains (2) summary

cd12054
Location:62 → 116

SH3_CD2AP_2; Second Src Homology 3 domain (SH3B) of CD2-associated protein

cd12056
Location:222 → 278

SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein