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: 146206
MIM: 610859
HGNC: 27089
Ensembl: ENSG00000159753
Variants:
dbSNP: 146206
ClinVar: 146206
TCGA: ENSG00000159753
COSMIC: CARMIL2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000159753 | ENST00000334583 | Q6F5E8 |
| ENSG00000159753 | ENST00000545661 | Q6F5E8 |
| ENSG00000159753 | ENST00000602368 | R4GMZ7 |
| ENSG00000159753 | ENST00000602563 | R4GNC4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36515678 | 2023 | Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. | 6 |
| 36515678 | 2023 | Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. | 6 |
| 33098696 | 2021 | RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma. | 2 |
| 33723309 | 2021 | Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. | 6 |
| 33098696 | 2021 | RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma. | 2 |
| 33723309 | 2021 | Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. | 6 |
| 31410926 | 2020 | Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease. | 23 |
| 32201938 | 2020 | Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation. | 9 |
| 32625199 | 2020 | A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors. | 16 |
| 31410926 | 2020 | Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease. | 23 |
| 32201938 | 2020 | Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation. | 9 |
| 32625199 | 2020 | A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors. | 16 |
| 31001706 | 2019 | A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency. | 17 |
| 31079270 | 2019 | A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. | 12 |
| 31115454 | 2019 | CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. | 15 |
Citation
Dessen P
CARMIL2 (capping protein regulator and myosin 1 linker 2)
Atlas Genet Cytogenet Oncol Haematol. 2001-01-01
Online version: http://atlasgeneticsoncology.org/gene/78439/carmil2-(capping-protein-regulator-and-myosin-1-linker-2)
