SLMAP (sarcolemma associated protein)

2014-11-01  

Identity

HGNC
SLMAP
LOCATION
3p14.3
LOCUSID
7871
ALIAS
SLAP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7871
MIM: 602701
HGNC: 16643
Ensembl: ENSG00000163681

Variants:

dbSNP: 7871
ClinVar: 7871
TCGA: ENSG00000163681
COSMIC: SLMAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163681ENST00000295951Q14BN4
ENSG00000163681ENST00000295952Q14BN4
ENSG00000163681ENST00000383718Q14BN4
ENSG00000163681ENST00000416658H7BZK0
ENSG00000163681ENST00000417128H7C3M8
ENSG00000163681ENST00000438794H7BZW9
ENSG00000163681ENST00000449503Q14BN4
ENSG00000163681ENST00000460223H7C5S2
ENSG00000163681ENST00000465203H7C5G9
ENSG00000163681ENST00000475055A0A590UJP6
ENSG00000163681ENST00000494088Q14BN4
ENSG00000163681ENST00000494088B7Z863
ENSG00000163681ENST00000655012A0A590UJG7
ENSG00000163681ENST00000657480A0A590UJT5
ENSG00000163681ENST00000658689A0A590UJH8
ENSG00000163681ENST00000659705Q14BN4
ENSG00000163681ENST00000659926A0A590UJ16
ENSG00000163681ENST00000662629A0A590UJ91
ENSG00000163681ENST00000664084A0A590UK66
ENSG00000163681ENST00000667800A0A590UJU9
ENSG00000163681ENST00000670768A0A590UJS6
ENSG00000163681ENST00000671191A0A590UJK3

Expression (GTEx)

0
10
20
30
40
50
60
70
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
bronchus
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
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
230649652012A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.34
290638332017SAV1 promotes Hippo kinase activation through antagonizing the PP2A phosphatase STRIPAK.25
258801942015Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population.5

Citation

Dessen P

SLMAP (sarcolemma associated protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73525/slmap