|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3936
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Lymphocyte cytosolic protein 1 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
LCP1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CP64, HEL-S-37, L-PLASTIN, LC64P, LPL, PLS2 |
|
Chromosome
Chromosome number
|
13 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
13q14.13 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as |
| UniProt ID |
P13796
|
| Protein name |
Plastin-2 (L-plastin) (LC64P) (Lymphocyte cytosolic protein 1) (LCP-1) |
| Protein function |
Actin-binding protein (PubMed:16636079, PubMed:17294403, PubMed:28493397). Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28 (PubMed:17294403). Modulates the cell surface expression of IL2RA/C |
| PDB |
2D85
,
5JOJ
,
5JOL
,
6VEC
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF00036
|
EF-hand_1 |
13 → 41 |
EF hand |
Domain |
|
PF00307
|
CH |
120 → 236 |
Calponin homology (CH) domain |
Domain |
|
PF00307
|
CH |
264 → 376 |
Calponin homology (CH) domain |
Domain |
|
PF00307
|
CH |
394 → 504 |
Calponin homology (CH) domain |
Domain |
|
PF00307
|
CH |
515 → 625 |
Calponin homology (CH) domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Detected in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia, in spleen and other lymph node-containing organs. Expressed in peripheral blood T-lymphocytes, neutrophils, monocytes, B-lymphocytes, and myeloid cells |
| Sequence |
|
| Sequence length |
627 |
| Interactions |
View interactions
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Arthritis Rheumatoid |
Associate
|
33430905, 40048636 |
| Arthritis Rheumatoid |
Stimulate
|
35008858 |
| Breast Neoplasms |
Associate
|
26413813, 33618712 |
| Calcinosis Cutis |
Associate
|
33618712 |
| Carcinogenesis |
Stimulate
|
8428953 |
| Cardiovascular Diseases |
Associate
|
33009409 |
| Carotid Stenosis |
Associate
|
36823662 |
| Cholangitis Sclerosing |
Associate
|
39683940 |
| Chondrocalcinosis 2 |
Associate
|
35008858 |
| Chromosome Inversion |
Associate
|
38086496 |
| Cognition Disorders |
Stimulate
|
28746408 |
| Diabetes Mellitus Type 2 |
Associate
|
22606001 |
| Disease Progression |
Stimulate
|
30479022 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
19799649 |
| Inflammation |
Associate
|
35008858 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
28679620 |
| Leukocyte Disorders |
Associate
|
34991157 |
| Liver Cirrhosis |
Associate
|
39683940 |
| Lymphatic Metastasis |
Associate
|
28230172, 28981098 |
| Lymphohistiocytosis Hemophagocytic |
Associate
|
37653176 |
| Mental Disorders |
Associate
|
38086496 |
| Mouth Neoplasms |
Associate
|
28230172 |
| Multiple Myeloma |
Associate
|
29882856 |
| Nasal Polyps |
Associate
|
30479022 |
| Neoplasm Metastasis |
Associate
|
28981098 |
| Neoplasms |
Associate
|
12231175, 18288642, 25435355, 26945069, 30918060, 31501427, 3211125, 32986657, 39683940, 9176394 |
| Neoplasms |
Stimulate
|
2378651, 8428953 |
| Nephrosis Lipoid |
Stimulate
|
18697798 |
| Neutropenia |
Associate
|
34991157 |
| Non alcoholic Fatty Liver Disease |
Associate
|
23213074, 35789605 |
| Osteoarthritis |
Associate
|
35008858 |
| Periodontitis |
Associate
|
22606001 |
| Prostatic Neoplasms |
Associate
|
28981098 |
| Prostatitis |
Associate
|
9176394 |
| Schizophrenia |
Associate
|
38086496 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
28230172 |
| Stomach Neoplasms |
Associate
|
32986657 |
| Urinary Bladder Neoplasms |
Associate
|
18288642 |
|