Aliases &
Descriptions
for CD2AP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| CD2-associated protein1 2 | | CMS1 2 5 | | Adapter protein CMS2 3 | | Cas ligand with multiple SH3 domains2 3 | | Cas ligand with multiple Src homology 3 (SH3) domains2 | | DKFZp586H05192 |
Export aliases for CD2AP gene to outside databasesPrevious GC identifers: GC06P047447 GC06P047492 GC06P047468 GC06P047553 GC06P047445 |
Summaries
for CD2AP gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CD2AP:
This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts withfilamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and aproline-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 traffickingthat occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated insusceptibility to glomerular disease. (provided by RefSeq)
UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6Function: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. May play a role inreceptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell. May anchorthe podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis
Gene Wiki entry for CD2AP |
Genomic Views
for CD2AP gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CD2AP gene promoter:
CREB deltaCREB c-Rel GR-alpha GR-beta GATA-3 p53 ATF-2 c-Jun Pax-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for CD2AP
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CD2AP  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p12 Ensembl cytogenetic band: 6p12.3 HGNC cytogenetic band: 6p12CD2AP Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P047172: view genomic region
(about GC identifiers)
Start:
|
47,172,874 bp from pter |
End:
|
47,322,780 bp from pter |
Size:
|
149,907 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr6+ 47,445,525-47,594,999 |
RefSeq DNA sequence:- NC_000006.11 NT_007592.15
|
Proteins
for CD2AP gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6 (See
protein sequence)Recommended Name: CD2-associated protein Size: 639 amino acids; 71451 Da
Subunit: Self-associates. Homodimer (Potential). Interacts (via SH3 2 domain) with CBL (via phosphorylated C-terminus).Interacts with BCAR1/p130Cas (via SH3 domain). Interacts with F-actin, PKD2, NPHS1 and NPHS2. Interacts with WTIP (Bysimilarity). Interacts with FAM125A and ARHGAP17. Interacts with ANLN, CD2 and CBLB. Interacts with PDCD6IP andTSG101. Interacts with DDN; interaction is direct (By similarity)
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cell projection, ruffle (By similarity).Note=Colocalizes with F-actin and BCAR1/p130Cas in membrane ruffles. Located at podocyte slit diaphragm betweenpodocyte foot processes (By similarity). During late anaphase and telophase, concentrates in the vicinity of themidzone microtubules and in the midbody in late telophase
PDB structures from  and Proteopedia  :2FEI (3D)
2J6F (3D)
2J6K (3D)
2J6O (3D)
2J7I (3D)
3AA6 (3D)
3LK4 (3D)
Secondary accessions: A6NL34 Q5VYA3 Q9UG97Explore the universe of human proteins at neXtProt for CD2AP: NX_Q9Y5K6
Post-translational modifications:
Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_036252.1
ENSEMBL proteins: ENSP00000352264
Human Recombinant Proteins
5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10): About this table
CD2AP for ontologies About GeneDecksing
Antibodies for CD2AP:
Assays for CD2AP: |
Protein
Domains/
Families
for CD2AP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CD2AP for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y5K6ProtoNet protein and cluster: Q9Y5K6 UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6Domain: The Pro-rich domain may mediate binding to SH3 domainsDomain: Potential homodimerization is mediated by the coiled coil domainSimilarity: Contains 3 SH3 domains |
Gene Function
for CD2AP gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6Function: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. May play a role inreceptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell. May anchorthe podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis
5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7): About this table
CD2AP for ontologies About GeneDecksing
Animal Models: 7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Cd2ap):
CD2AP for phenotypes About GeneDecksing
|
Pathways & Interactions
for CD2AP gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
CD2AP for pathways About GeneDecksing
1  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for CD2AP
1  Kegg Pathway (Kegg details for CD2AP):  | hsa05100 Bacterial invasion of epithelial cells |
SABiosciences Custom Pathway-Focused PCR Arrays for CD2AP
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CD2AP
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD2AP
5/23 Interacting proteins for CD2AP (ENSP000003522643 Q9Y5K61, 2) via UniProtKB, MINT, and/or STRING (see all 23)About this table
5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10): About this table
CD2AP for ontologies About GeneDecksing
|
Drugs & Compounds
for CD2AP gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
CD2AP for compounds About GeneDecksing
 Browse Tocris compounds for CD2AP
3  Novoseek chemical compound relationships for CD2AP gene
About this table
|
Transcripts
for CD2AP gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for CD2AP gene: NM_012120.2 Additional cDNA sequence: AF146277.1 AF164377.1 AJ420469.1 AL050105.1 BC069444.1 6 DOTS entries: DT.454118 DT.40279660 DT.92414833 DT.91832439 DT.95072937 DT.100649958 24/133 AceView cDNA sequences (see all 133): AF164377 BU679191 AA767503 AL700509 BM750717 CA391278 BQ022766 AA643885 BM785613 BQ959270 AW770101 AA808149 AL701160 AW088608 AI018159 AW572001 BM091307 BM966962 AA398285 AA384810 AI357621 BM981957 BX095031 AI374592
 highest scoring ESTs for CD2AP:AL050105 AA173625 AA173981 AA311487 AA384810 AA557142 AA627866 AA643885 AA767503 AA847195 Unigene Cluster for CD2AP: CD2-associated protein Hs.485518 [show with all ESTs]Unigene Representative Sequence: NM_012120
GeneLoc Exon Structure
5 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000359314(uc003oyw.2) ENST00000477159 ENST00000463175 ENST00000479857
ENST00000486693
|
Expression
for CD2AP gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| CD2AP expression in normal and diseased human tissues
1 / 2 / 3 7 probe-sets matching CD2AP gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 34699_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
0.79 |
1.04 |
AL050105 |
1.00 |
1.00 |
1.00 |
1 |
| 83120_i_at2, 3
|
U95-E |
1 |
0.40 |
1.00 |
-0.36 |
1.02 |
AI393246 |
0.40 |
1.00 |
0.76 |
1 |
| 83122_r_at2, 3
|
U95-E |
1 |
0.38 |
1.00 |
0.07 |
0.95 |
AI393246 |
0.40 |
1.00 |
0.76 |
1 |
| 203593_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
NM_012120 |
0.60 |
1.00 |
0.82 |
1 |
| 236257_at2, 3
|
U133-B |
1 |
0.27 |
1.00 |
-- |
-- |
AI244614 |
0.20 |
1.00 |
0.72 |
1 |
| 203593_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 236257_at2
|
U133Plus2 |
1 |
0.27 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
CD2AP for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: CTTCTCTCTC
SOURCE GeneReport for Unigene cluster: Hs.485518
Expression variation in blood from EXPOLDB for CD2AP UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6Tissue specificity: Widely expressed in fetal and adult tissues
SABiosciences Custom PCR Arrays for CD2AP
|
Orthologs
for CD2AP gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for CD2AP gene from 5/7 species (see all 7)
About this table Species with no ortholog for CD2AP
ENSEMBL Gene Tree for CD2AP (if available) |
Paralogs
for CD2AP gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for CD2AP gene
- C1orf1132 SH3KBP12
CD2AP for paralogs About GeneDecksing
|
Genomic Variants
for CD2AP gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for CD2AP
5 CNVs: 64498 59344 36528 0718 36530
1 Indel: 64497 | | QIAGEN SeqTarget long-range PCR primers for resequencing CD2AP |
|
Disorders & Mutations
for CD2AP gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CD2AP for disorders About GeneDecksing
OMIM: 604241 disorders: 607832 UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6
Defects in CD2AP are the cause of susceptibility to focal segmental glomerulosclerosis type 3 (FSGS3)[MIM:607832]. A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting inproteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renaldisease, a highly morbid state requiring either dialysis therapy or kidney transplantation
10/12 Novoseek disease relationships for CD2AP gene (see all 12)
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nphs1 |
92.1 |
11 |
15509792 (2), 15616033 (1), 16710349 (1), 12819328 (1) (see all 9) |
| glomerulosclerosis, focal segmental |
84.2 |
10 |
14643126 (3), 17713465 (1), 16739878 (1), 12764198 (1) (see all 7) |
| nephrotic syndrome |
80.9 |
15 |
19131354 (3), 10997929 (2), 12217865 (1), 17459670 (1) (see all 11) |
| proteinuria |
74 |
11 |
12853730 (2), 11730159 (1), 17713465 (1), 19131354 (1) (see all 9) |
| glomerulosclerosis |
65.1 |
2 |
15509792 (2) |
| nephrotic syndrome minimal change |
63.8 |
2 |
16739878 (1), 16941146 (1) |
| renal disease |
51.4 |
6 |
15149332 (2), 14643126 (1), 19095050 (1) |
| nephropathy iga |
45.4 |
5 |
16941146 (2), 14643126 (1), 16739878 (1) |
| nephropathy membranous |
44.2 |
1 |
16889564 (1) |
| renal failure |
39.8 |
4 |
15509792 (2), 16106076 (1), 14643126 (1) |
About this table
1 PharmGKB disease relationship for CD2AP geneAbout this table
Human Gene Mutation Database (HGMD): CD2AP
Human Genome Epidemiology (HuGE) Navigator: CD2AP (3 documents)
Export disorders and mutations for CD2AP gene to outside databases
|
Medical News
for CD2AP gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for CD2AP gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/126 PubMed articles for CD2AP gene, integrated from 7 sources (see all 126):
(articles sorted by number of sources associating them with CD2AP)- CMS: an adapter molecule involved in cytoskeletal rearrangements. (PubMed id 10339567)1, 2, 3 Kirsch K.H.... Hanafusa H. (1999)
- CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. (PubMed id 12764198)1, 2, 7 Kim J.M.... Shaw A.S. (2003)
- Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. (PubMed id 17853893)1, 2, 7 Morita E....Sundquist W.I. (2007)
- Solution structure of the second SH3 domain of human CMS and a newly identified binding site at the C-terminus of c-Cbl. (PubMed id 17188587)1, 2 Yao B.... Shi Y. (2007)
- Atypical polyproline recognition by the CMS N-terminal Src homology 3 domain. (PubMed id 17020880)1, 2 Moncalian G....Bravo J. (2006)
- CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP. (PubMed id 16895919)1, 2 Konishi H....Taniguchi H. (2006)
- A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PubMed id 16678097)1, 2 Wells C.D.... Pawson T. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
- Clues to CD2-associated protein involvement in cytokinesis. (PubMed id 15800069)1, 2 Monzo P.... Cormont M. (2005)
|
External Searches for CD2AP gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CD2AP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CD2AP gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CD2AP gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD2AP |
|
| | |
About This Section
| Patent Information for CD2AP gene:
Search GeneIP for patents involving CD2AP
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CD2AP gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| | | |
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 |  |  |  | |
 | Antibodies & Assays for CD2AP |
| | | | Search Tocris compounds for CD2AP |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for CD2AP |
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