MAK (male germ cell associated kinase)

2006-10-01  

Identity

HGNC
MAK
LOCATION
6p24.2
LOCUSID
4117
ALIAS
RP62
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4117
MIM: 154235
HGNC: 6816
Ensembl: ENSG00000111837

Variants:

dbSNP: 4117
ClinVar: 4117
TCGA: ENSG00000111837
COSMIC: MAK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111837ENST00000313243P20794
ENSG00000111837ENST00000313243A0A140VK28
ENSG00000111837ENST00000354489P20794
ENSG00000111837ENST00000474039P20794
ENSG00000111837ENST00000474039A0A140VK28
ENSG00000111837ENST00000536370P20794
ENSG00000111837ENST00000538030Q8IXN4

Expression (GTEx)

0
5
10
15
20
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

References

Pubmed IDYearTitleCitations
292760522018Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.15
297817412018Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.3
292760522018Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.15
297817412018Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.3
268946522016Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.4
268946522016Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.4
252553642015Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.12
253856752015Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.8
265589032015Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.10
252553642015Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.12
253856752015Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.8
265589032015Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.10
237434482013CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner.57
242444862013Distinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.13
237434482013CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner.57

Citation

Dessen P

MAK (male germ cell associated kinase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43340