Gene Gene information from NCBI Gene database.
Entrez ID 23607
Gene name CD2 associated protein
Gene symbol CD2AP
Synonyms (NCBI Gene)
CMS
Chromosome 6
Chromosome location 6p12.3
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 cont
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs267606710 C>A,T Pathogenic Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs545551160 AGA>- Uncertain-significance, likely-pathogenic Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1393955970 G>A,T Pathogenic Splice donor variant
rs1554181304 GC>CT Pathogenic Splice acceptor variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
910
miRTarBase ID miRNA Experiments Reference
MIRT020288 hsa-miR-130b-3p Sequencing 20371350
MIRT022095 hsa-miR-128-3p Sequencing 20371350
MIRT022891 hsa-miR-124-3p Microarray 18668037
MIRT023443 hsa-miR-30b-5p Sequencing 20371350
MIRT023930 hsa-miR-1-3p Proteomics;Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
E2F1 Activation 22880102
LMX1B Unknown 11956244
SP1 Activation 21604172
SP3 Activation 21604172
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
105
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0001726 Component Ruffle IDA 10339567
GO:0001726 Component Ruffle IEA
GO:0001771 Process Immunological synapse formation IEA
GO:0001822 Process Kidney development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604241 14258 ENSG00000198087
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5K6
Protein name CD2-associated protein (Adapter protein CMS) (Cas ligand with multiple SH3 domains)
Protein function Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neu
PDB 2FEI , 2J6F , 2J6K , 2J6O , 2J7I , 3AA6 , 3LK4 , 3U23 , 4WCI , 4X1V , 7DS6 , 7DS8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 6 55 Variant SH3 domain Domain
PF14604 SH3_9 115 163 Variant SH3 domain Domain
PF00018 SH3_1 275 322 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues.
Sequence
MVDYIVEYDYDAVHDDELTIRVGEIIRNVKKLQEEGWLEGELNGRRGMFPDNFVKEIKRE
TEFKDDSLPIKRERHGNVASLVQRISTYGLPAGGIQPHPQTKNIKKKTKKRQCKVLFEYI
PQNEDELELKVGDIIDINEEVEEGWWSGTLNNKLGLFPSNFVK
ELEVTDDGETHEAQDDS
ETVLAGPTSPIPSLGNVSETASGSVTQPKKIRGIGFGDIFKEGSVKLRTRTSSSETEEKK
PEKPLILQSLGPKTQSVEITKTDTEGKIKAKEYCRTLFAYEGTNEDELTFKEGEIIHLIS
KETGEAGWWRGELNGKEGVFPD
NFAVQINELDKDFPKPKKPPPPAKAPAPKPELIAAEKK
YFSLKPEEKDEKSTLEQKPSKPAAPQVPPKKPTPPTKASNLLRSSGTVYPKRPEKPVPPP
PPIAKINGEVSSISSKFETEPVSKLKLDSEQLPLRPKSVDFDSLTVRTSKETDVVNFDDI
ASSENLLHLTANRPKMPGRRLPGRFNGGHSPTHSPEKILKLPKEEDSANLKPSELKKDTC
YSPKPSVYLSTPSSASKANTTAFLTPLEIKAKVETDDVKKNSLDELRAQIIELLCIVEAL
KKDHGKELEKLRKDLEEEKTMRSNLEMEIEKLKKAVLSS
Sequence length 639
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Bacterial invasion of epithelial cells  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
263
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CD2AP-related disorder Likely pathogenic rs1768930040 RCV003391592
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 Pathogenic rs1554181304 RCV000006057
Focal segmental glomerulosclerosis 3, susceptibility to Likely pathogenic; Pathogenic rs368795308, rs773479372, rs1554181304, rs2481088488, rs2481298544, rs1393955970, rs776297606 RCV001536091
RCV001536105
RCV002496278
RCV003990672
RCV003991214
RCV000625665
RCV001197381
Nonpapillary renal cell carcinoma Pathogenic rs1393955970 RCV005900092
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs75839544, rs141778404 RCV005918187
RCV005898197
Cholangiocarcinoma Benign rs75839544 RCV005918196
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs75839544 RCV005918198
Colon adenocarcinoma Likely benign rs140391156 RCV005925646
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 36439123
Alzheimer Disease Associate 22319180, 22445811, 22482808, 23836404, 23954108, 26101835, 26519441, 26543236, 26680604, 26923371, 27289440, 28650998, 30448613, 30830563, 32345668
View all (7 more)
Arthritis Rheumatoid Associate 24776925
Atrophy Associate 26923371
Autoimmune Diseases Associate 33152005
Carcinoma Hepatocellular Associate 40362690
Colorectal Neoplasms Associate 37894817
Congenital myasthenic syndrome ib Associate 17713465
Dementia Associate 30830563
Dementia Vascular Associate 30830563