Cd2ap
Gene Detail

Symbol Name ID

Cd2ap CD2-associated protein MGI:1330281

Synonyms

Mets1, METS-1

Feature Type

protein coding gene

Genetic Map

Chromosome 17

19.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr17:42792951-42876424 bp, - strand From NCBI annotation of GRCm38   83474 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7663  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Cd2ap

Human homologs

Human Homolog		CD2AP, CD2-associated protein
NCBI Gene ID		23607
neXtProt AC		NX_Q9Y5K6
Human Synonyms		CMS
Human Chr (Location)		6p12; chr6:47445525-47594999 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CD2AP

Alleles and phenotypes

All alleles(26) : Targeted(3) Gene trapped(23)
 

Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months.

 
Human Diseases Modeled Using Mouse Cd2ap (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (29 annotations)

Process	cell-cell adhesion, cell cycle, ...
Component	cell cortex, cell leading edge, ...
Function	beta-catenin binding, cadherin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (13 records)
Data Summary: Results (89)    Tissues (45)    Images (20)
Theiler Stages: 17, 21, 22, 23, 26, 28

Assay Type	Results
Immunohistochemistry	2
RNA in situ	72
Northern blot	8
Western blot	7

cDNA source data(21)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(23) cDNA(22) Primer pair(1)
Microarray probesets(8)

Other database links

Ensembl Gene Model	ENSMUSG00000061665 (Evidence)
Entrez Gene	12488 (Evidence)
NIA Mouse Gene Index	U037819, U110508
PDB	2JTE, 2KRM, 2KRN, 2KRO
Consensus CDS Project	CCDS50114.1
International Mouse Knockout Project Status	Cd2ap

Sequences

Length	Strain/Species
genomic	12488	NCBI Gene Model | MGI Sequence Detail	83474	C57BL/6J
transcript	NM_009847	RefSeq | MGI Sequence Detail	5427	Not Specified
polypeptide	Q9JLQ0	UniProt | EBI | MGI Sequence Detail	637	Not Applicable

All sequences(35) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(351 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000108	Neutrophil cytosol factor 2 p67phox
InterPro	IPR001452	Src homology-3 domain
Protein Ontology	PR:000005163	CD2-associated protein

Graphical View of Protein Domain Structure

References

(Earliest) J:43777 Jansson S, et al., Mouse metanephric kidney as a model system for identifying developmentally regulated genes. J Cell Physiol. 1997 Nov;173(2):147-51
(Latest) J:183631 Tossidou I, et al., CD2AP regulates SUMOylation of CIN85 in podocytes. Mol Cell Biol. 2012 Mar;32(6):1068-79
All references(66)

Other accession IDs

MGI:1194922, MGI:2146959, MGI:2147127