Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23607
Gene name Gene Name - the full gene name approved by the HGNC.
CD2 associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD2AP
Synonyms (NCBI Gene) Gene synonyms aliases
CMS
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
E2F1 Activation 22880102
LMX1B Unknown 11956244
SP1 Activation 21604172
SP3 Activation 21604172
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0001726 Component Ruffle IDA 10339567
GO:0005172 Function Vascular endothelial growth factor receptor binding IEA
GO:0005200 Function Structural constituent of cytoskeleton TAS 10339567
GO:0005515 Function Protein binding IPI 10339567, 17020880, 17474147, 17853893, 18641129, 19380743, 21706016, 21822214, 21988832, 22662192, 22891260, 23663663, 25036637, 28514442, 31413325, 31980649
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604241 14258 ENSG00000198087
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
30320580, 21460841, 21460840, 30617256, 31473137, 24162737
Hypertension Hypertensive disease rs13306026
Renal insufficiency Renal Insufficiency rs1596536873
Unknown
Disease term Disease name Evidence References Source
Focal segmental glomerulosclerosis focal segmental glomerulosclerosis 3, susceptibility to GenCC
Nephrotic Syndrome familial idiopathic steroid-resistant nephrotic syndrome GenCC
Dementia Dementia GWAS
Associations from Text Mining
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