SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like)
2014-11-01 AffiliationIdentity
HGNC
LOCATION
22q11.23
LOCUSID
ALIAS
CYTSA,GBBB2,OBLFC1,TBHS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23384
MIM: 614140
HGNC: 29022
Ensembl: ENSG00000100014
Variants:
dbSNP: 23384
ClinVar: 23384
TCGA: ENSG00000100014
COSMIC: SPECC1L
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443434 | Arthritis, Rheumatoid | Disease | ClinicalAnnotation | associated | PD | 18539621 | |
| PA450428 | methotrexate | Chemical | ClinicalAnnotation | associated | PD | 18539621 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38942763 | 2024 | Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease. | 0 |
| 38942763 | 2024 | Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease. | 0 |
| 36634848 | 2023 | SPECC1L binds the myosin phosphatase complex MYPT1/PP1β and can regulate its distribution between microtubules and filamentous actin. | 2 |
| 37345651 | 2023 | SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics. | 0 |
| 36634848 | 2023 | SPECC1L binds the myosin phosphatase complex MYPT1/PP1β and can regulate its distribution between microtubules and filamentous actin. | 2 |
| 37345651 | 2023 | SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics. | 0 |
| 35205294 | 2022 | SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome. | 1 |
| 36412101 | 2022 | BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma. | 0 |
| 35205294 | 2022 | SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome. | 1 |
| 36412101 | 2022 | BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma. | 0 |
| 31943082 | 2020 | SPECC1L regulates palate development downstream of IRF6. | 11 |
| 32954677 | 2020 | Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. | 3 |
| 33144287 | 2020 | Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors. | 2 |
| 31943082 | 2020 | SPECC1L regulates palate development downstream of IRF6. | 11 |
| 32954677 | 2020 | Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. | 3 |
Citation
Dessen P
SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74166/
