MAK (male germ cell associated kinase)

2006-10-01 Affiliation

Identity

HGNC

MAK

LOCATION

6p24.2

LOCUSID

4117

ALIAS

RP62

FUSION GENES

Show Gene Fusions

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: 4117
MIM: 154235
HGNC: 6816
Ensembl: ENSG00000111837

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000111837	ENST00000313243	P20794
ENSG00000111837	ENST00000313243	A0A140VK28
ENSG00000111837	ENST00000354489	P20794
ENSG00000111837	ENST00000474039	P20794
ENSG00000111837	ENST00000474039	A0A140VK28
ENSG00000111837	ENST00000536370	P20794
ENSG00000111837	ENST00000538030	Q8IXN4

Expression (GTEx)

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 ID	Year	Title	Citations
21825139	2011	Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.	93
21835304	2011	Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.	40
23743448	2013	CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner.	35
16954377	2006	Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase.	33
22110072	2011	Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.	20
16951154	2006	Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells.	18
12084720	2002	Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells.	17
24244486	2013	Distinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.	8
25255364	2015	Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.	8
21986944	2012	Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/CCDH1.	7

Citation

Dessen P

MAK (male germ cell associated kinase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

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