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 |
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 |
|
Sequence length |
639 |
Interactions |
View interactions
|
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, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 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, 33152005, 33947463, 34514662, 35332097, 35715361, 38241287, 40050982 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 |
Diabetic Nephropathies |
Associate
|
21655212 |
Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
34514662 |
Disease |
Associate
|
24438528 |
Down Syndrome |
Associate
|
24438528 |
Fibromuscular Dysplasia |
Associate
|
31424497 |
Fractures Spontaneous |
Associate
|
33419465 |
Frontotemporal Dementia |
Associate
|
33152005 |
Glomerulosclerosis Focal Segmental |
Associate
|
17713465, 29138824 |
Kashin Beck Disease |
Associate
|
24776925 |
Kidney Diseases |
Associate
|
15149332 |
Microphthalmia Syndromic 10 |
Associate
|
26923371 |
Neoplasm Metastasis |
Inhibit
|
31989722 |
Neoplasms |
Associate
|
18218851, 23279575, 32345668, 37894817 |
Nephrotic Syndrome |
Associate
|
11562357, 16050398, 25501161, 35920919 |
Osteoarthritis |
Associate
|
24776925 |
Plaque Amyloid |
Associate
|
23836404 |
Prostatic Neoplasms |
Associate
|
32345668 |
Renal Insufficiency |
Associate
|
17713465 |
Stomach Neoplasms |
Inhibit
|
31989722 |
Stroke |
Associate
|
30830563 |
|