• Gene id: 23607

Gene Summary

• Gene Symbol: CD2AP   Gene   UCSC   Ensembl
• Aliases: CMS
• Gene name: CD2 associated protein
• Alternate names: CD2-associated protein, Cas ligand with multiple Src homology 3 (SH3) domains, adapter protein CMS, cas ligand with multiple SH3 domains,
• Gene location: 6p12.3 (47477745: 47627262)     Exons: 20     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 604241

Protein Summary

• Protein general information: Q9Y5K6  
  • Name: CD2 associated protein (Adapter protein CMS) (Cas ligand with multiple SH3 domains)
  • Length: 639  
  • Mass: 71451
  • Tissue specificity: Widely expressed in fetal and adult tissues.
• Sequence:

  MVDYIVEYDYDAVHDDELTIRVGEIIRNVKKLQEEGWLEGELNGRRGMFPDNFVKEIKRETEFKDDSLPIKRERH
  GNVASLVQRISTYGLPAGGIQPHPQTKNIKKKTKKRQCKVLFEYIPQNEDELELKVGDIIDINEEVEEGWWSGTL
  NNKLGLFPSNFVKELEVTDDGETHEAQDDSETVLAGPTSPIPSLGNVSETASGSVTQPKKIRGIGFGDIFKEGSV
  KLRTRTSSSETEEKKPEKPLILQSLGPKTQSVEITKTDTEGKIKAKEYCRTLFAYEGTNEDELTFKEGEIIHLIS
  KETGEAGWWRGELNGKEGVFPDNFAVQINELDKDFPKPKKPPPPAKAPAPKPELIAAEKKYFSLKPEEKDEKSTL
  EQKPSKPAAPQVPPKKPTPPTKASNLLRSSGTVYPKRPEKPVPPPPPIAKINGEVSSISSKFETEPVSKLKLDSE
  QLPLRPKSVDFDSLTVRTSKETDVVNFDDIASSENLLHLTANRPKMPGRRLPGRFNGGHSPTHSPEKILKLPKEE
  DSANLKPSELKKDTCYSPKPSVYLSTPSSASKANTTAFLTPLEIKAKVETDDVKKNSLDELRAQIIELLCIVEAL
  KKDHGKELEKLRKDLEEEKTMRSNLEMEIEKLKKAVLSS

• Structural information:
  • Protein Domains: (1..5-)
    (/note="SH3-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (108..16-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (269..33-)
    (/note="SH3-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU001-)
  • Interpro: IPR028445  IPR035775  IPR035777  IPR035776  IPR036028   IPR001452  
  • Prosite: PS50002
  • CDD: cd12053 cd12054 cd12056
  • PDB: 2FEI 2J6F 2J6K 2J6O 2J7I 3AA6 3LK4 3U23 4WCI 4X1V
  • PDBsum: 2FEI 2J6F 2J6K 2J6O 2J7I 3AA6 3LK4 3U23 4WCI 4X1V
  • DIP: 31807
  • STRING: ENSP00000352264
• Other Databases: GeneCards:  CD2AP  Malacards:  CD2AP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051058	negative regulation of small GTPase mediated signal transduction	IMP	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051301	cell division	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006930	substrate-dependent cell migration, cell extension	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0045296	cadherin binding	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016477	cell migration	IEA	biological process
GO:0016050	vesicle organization	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0032911	negative regulation of transforming growth factor beta1 production	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0048259	regulation of receptor-mediated endocytosis	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031252	cell leading edge	IEA	cellular component
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0005172	vascular endothelial growth factor receptor binding	IEA	molecular function
GO:2000249	regulation of actin cytoskeleton reorganization	IEA	biological process
GO:1900182	positive regulation of protein localization to nucleus	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0031941	filamentous actin	IDA	cellular component
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050714	positive regulation of protein secretion	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Focal segmental glomerulosclerosis	KEGG:H00626
Focal segmental glomerulosclerosis	KEGG:H00626
focal segmental glomerulosclerosis	PMID:12764198
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881