CARMIL2 (capping protein regulator and myosin 1 linker 2)

2001-01-01  

Identity

HGNC
CARMIL2
LOCATION
16q22.1
LOCUSID
146206
ALIAS
CARMIL2b,IMD58,LRRC16C,RLTPR

Other Information

Locus ID:

NCBI: 146206
MIM: 610859
HGNC: 27089
Ensembl: ENSG00000159753

Variants:

dbSNP: 146206
ClinVar: 146206
TCGA: ENSG00000159753
COSMIC: CARMIL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159753ENST00000334583Q6F5E8
ENSG00000159753ENST00000545661Q6F5E8
ENSG00000159753ENST00000602368R4GMZ7
ENSG00000159753ENST00000602563R4GNC4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365156782023Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.6
365156782023Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.6
330986962021RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma.2
337233092021Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.6
330986962021RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma.2
337233092021Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.6
314109262020Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease.23
322019382020Exogenous 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
326251992020A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.16
314109262020Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease.23
322019382020Exogenous 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
326251992020A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.16
310017062019A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.17
310792702019A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.12
311154542019CARMIL2 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)