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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 Ensembl 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: CD2AP
Gene Tree: Cd2ap

Human
homologs
CD2AP, CD2-associated protein
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 23607
neXtProt AC: NX_Q9Y5K6

Human Synonyms: CMS

Human Chr (Location): 6p12; chr6:47477746-47627263 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CD2AP

Mutations,
alleles, and
phenotypes
All mutations/alleles(26) : Gene trapped(23) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Cd2ap (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Cd2ap interacts with 417 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process cell cycle, cell division, ...
Component cell-cell junction, cell cortex, ...
Function beta-catenin binding, cadherin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (136)    Tissues (90)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 119
Northern blot 8
Western blot 7
cDNA source data(21)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cd2ap ; ZFIN cd2ap    NEW 
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 U110508, U037819
PDB 2JTE, 2MCN, 2KRO, 2KRM, 2KRN, 2LZ6
Consensus CDS Project CCDS50114.1
International Mouse Phenotyping Consortium Status Cd2ap
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000061665 Ensembl Gene Model | MGI Sequence Detail 83474 C57BL/6J ±  kb
transcript ENSMUST00000024709 Ensembl | MGI Sequence Detail 5399 Not Applicable 
polypeptide ENSMUSP00000024709 Ensembl | MGI Sequence Detail 637 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(9) UniProt(2)
Polymorphisms
SNPs within 2kb(594 from dbSNP Build 137)    SNPs within 2kb including multiple locations(606)
Protein-related
information
ResourceIDDescription
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000005163 CD2-associated protein
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:210519 Casalena G, et al., Mpv17 in mitochondria protects podocytes against mitochondrial dysfunction and apoptosis in vivo and in vitro. Am J Physiol Renal Physiol. 2014 Jun 1;306(11):F1372-80
All references(70)
Disease annotation references (1)
Other
accession IDs
MGI:1194922, MGI:2146959, MGI:2147127

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory