MAK - male germ cell associated kinase Gene

Homo sapiens

Also known as RP62

Gene ID: 4117 | Gene type: protein coding

About MAK

Cytogenetic location: 6p24.2 Genomic coordinates (GRCh38): 6:10,762,723-10,838,539 (from NCBI)

This gene has 7 transcripts (splice variants), 233 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 3.9), lung (RPKM 0.4) and 3 other tissues.

Summary

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

MAK Products(4)

mRNA	Protein	Name
NM_001242385.2	NP_001229314.1	serine/threonine-protein kinase MAK isoform 2
NM_001242957.3	NP_001229886.1	serine/threonine-protein kinase MAK isoform 3
NM_001377262.1	NP_001364191.1	serine/threonine-protein kinase MAK isoform 4
NM_005906.6	NP_005897.1	serine/threonine-protein kinase MAK isoform 1

MAK Protein Structure

Pkinase

0
100
200
300
400
500
623 a.a.

Protein Preferred Names

Protein Names

serine/threonine-protein kinase MAK

serine/threonine protein kinase MAK

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 62

RP62	Retinitis Pigmentosa, Type 62

Isolated Macular Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Endocrine-Cerebroosteodysplasia

Endocrine-Cerebro-Osteodysplasia Syndrome	ECO
Eco Syndrome

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Cornea Cancer

Malignant Neoplasm Of Cornea	Neoplasm Of Cornea
Corneal Tumor	Malignant Corneal Tumor
Malignant Tumor Of Cornea	Primary Malignant Neoplasm Of Cornea

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy	Ornithine Aminotransferase Deficiency
HOGA	Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
Oat Deficiency	Okt Deficiency
Hyperornithinemia	Ornithine Keto Acid Aminotransferase Deficiency
Ornithine-Delta-Aminotransferase Deficiency	Gyrate Atrophy Of The Choroid And Retina
GACR	Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
Gyrate Atrophy Of The Retina	Ornithinemia With Gyrate Atrophy
Ornithinemia	Fuchs Atrophia Gyrata Chorioideae Et Retinae
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome	Gyrate Atrophy Of The Choroid And/Or Retina
Girate Atrophy Of The Retina	Ornithine Ketoacid Aminotransferase Deficiency
Atrophy, Gyrate, Of Choroid And Retina

Retinitis Pigmentosa 1

RP1	Retinitis Pigmentosa-1
Retinitis Pigmentosa, Type 1

Phimosis

Tight Foreskin	Tight Frenulum
Congenital Phimosis

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-103663	MAK683	Inhibitor	99.18%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-130815A	MAK683-CH2CH2COOH hydrochloride	Inhibitor	98.03%	Unkown
HY-130815	MAK683-CH2CH2COOH	Inhibitor	/	Unkown
HY-103663A	MAK683 hydrochloride	Inhibitor	/	Unkown
HY-RS07989	MAK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS07990	MAK16 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99425	Afelimomab		99.34%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MAK	VGNC	VGNC:68139
Macaca mulatta	MAK	VGNC	VGNC:74480
Bos taurus	MAK	VGNC	VGNC:31152
Mus musculus	MAK	MGD	MGI:96913
Canis familiaris	MAK	VGNC	VGNC:42931
Rattus norvegicus	MAK	RGD	RGD:3036
Others	MAK	NCBI

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