Cd2ap CD2-associated protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cd2approvided by MGI
Official Full Name: CD2-associated proteinprovided by MGI
Primary source: MGI:MGI:1330281
See related: Ensembl:ENSMUSG00000061665 AllianceGenome:MGI:1330281
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mets1; METS-1
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. The mouse genome contains at least two pseudogenes located on chromosomes 9 and 17. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bladder adult (RPKM 14.9), placenta adult (RPKM 10.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17; 17 B3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (43059857..43187595, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (42748887..42876707, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
The data suggest that inhibition of the catalytic activity of SHIP2 is beneficial in reducing oxidative stress, but leads to deleterious increase in apoptosis in podocytes with reduced expression of CD2AP.
Title: Inhibition of SHIP2 in CD2AP-deficient podocytes ameliorates reactive oxygen species generation but aggravates apoptosis.
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.
We used the HIM technology to investigate at nanometer scale resolution the ultrastructural alterations of the glomerular filtration apparatus in mice lacking the critical slit diaphragm-associated protein CD2AP, highlighting the great potential of HIM to provide new insights into the biology and (patho)physiology of glomerular diseases.
Title: Re-characterization of the Glomerulopathy in CD2AP Deficient Mice by High-Resolution Helium Ion Scanning Microscopy.
Ang II induces the relocalization and reduction of CD2AP via AT1R, which would cause podocyte apoptosis by the suppression of CD2AP/PI3-K signaling
Title: CD2-associated protein/phosphoinositide 3-kinase signaling has a preventive role in angiotensin II-induced podocyte apoptosis.
Tank1/Tank2 inhibition aggravates kidney injury in the absence of CD2AP.
Title: Tankyrase inhibition aggravates kidney injury in the absence of CD2AP.
Bin1 and CD2AP keep APP and BACE1 apart in early endosomes by distinct mechanisms in axon and dendrites. Individuals carrying variants of either factor would slowly accumulate Abeta in neurons increasing the risk for late-onset AD.
Title: Bin1 and CD2AP polarise the endocytic generation of beta-amyloid.
CD2AP forms a complex with GGA2, a clathrin adaptor, which sorts Glut4 to GSVs, suggesting a role for CD2AP in this process.
Title: Lack of CD2AP disrupts Glut4 trafficking and attenuates glucose uptake in podocytes.
CD2AP is the first signaling molecule associated with adult sensory axonal collateral sprouting
Title: The Adaptor Protein CD2AP Is a Coordinator of Neurotrophin Signaling-Mediated Axon Arbor Plasticity.
CD2AP has role in mediating blood-brain barrier integrity and cerebrovascular roles of CD2AP could contribute to its effects on Alzheimer's disease risk.
Title: The Alzheimer's disease risk factor CD2AP maintains blood-brain barrier integrity.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (1) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126464 (e-PCR)
- UniSTS:163172

D17Brg10 (e-PCR), detects polymorphism
- UniSTS:259207

Cd2ap (e-PCR), detects polymorphism
- UniSTS:525207

NoName (e-PCR)
- UniSTS:237554

Homology

Homologs of the Cd2ap gene: The Cd2ap gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 490 organisms have orthologs with human gene Cd2ap
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables vascular endothelial growth factor receptor binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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 migration	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of small GTPase mediated signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transforming growth factor beta1 production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of protein localization to nucleus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein secretion	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of actin cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in synapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in synapse organization	IEP Inferred from Expression Pattern more info	PubMed
involved_in synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse organization	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of transforming growth factor beta1 production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in vesicle organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	ISO Inferred from Sequence Orthology more info	PubMed
located_in cell junction	IEA Inferred from Electronic Annotation more info
is_active_in cell leading edge	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cell leading edge	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle	ISO Inferred from Sequence Orthology more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
part_of filamentous actin	ISO Inferred from Sequence Orthology more info
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IEP Inferred from Expression Pattern more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuromuscular junction	IPI Inferred from Physical Interaction more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology 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	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in ruffle	ISO Inferred from Sequence Orthology more info
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: CD2-associated protein

Names: SH3 domain-containing adapter protein; SH3 domain-containing adaptor protein METS-1; mesenchyme to epithelium transition protein, SH3 domains; mesenchyme-to-epithelium transition protein with SH3 domains 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_001410466.1 → NP_001397395.1 CD2-associated protein isoform 2

Status: VALIDATED

Source sequence(s)

AC111082
NM_001410467.1 → NP_001397396.1 CD2-associated protein isoform 3

Status: VALIDATED

Source sequence(s)

AC111082
NM_001410468.1 → NP_001397397.1 CD2-associated protein isoform 4

Status: VALIDATED

Source sequence(s)

AC111082

UniProtKB/TrEMBL

A0A3B2W812
NM_009847.4 → NP_033977.3 CD2-associated protein isoform 1

See identical proteins and their annotated locations for NP_033977.3

Status: VALIDATED

Source sequence(s)

AC111082

Consensus CDS

CCDS50114.1

UniProtKB/Swiss-Prot

Q8VCI9, Q9JLQ0

Related

ENSMUSP00000024709.8, ENSMUST00000024709.9

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

RNA

NR_177075.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC111082

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

43059857..43187595 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011246263.4 → XP_011244565.1 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:271 → 327

SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein
XM_011246264.4 → XP_011244566.1 CD2-associated protein isoform X2

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

cl17036
Location:269 → 315

SH3; Src Homology 3 domain superfamily