Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4117
Gene name Gene Name - the full gene name approved by the HGNC.	Male germ cell associated kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MAK
Synonyms (NCBI Gene) Gene synonyms aliases	RP62
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 s

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs145014649	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs387906646	T>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs387906647	C>G,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs387906648	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, upstream transcript variant
rs527236080	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, upstream transcript variant
rs527236081	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, upstream transcript variant
rs527236082	->C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs753314164	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs779514800	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs886043417	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs935003657	TT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1039053911	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1201940872	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1347914291	ATTG>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1581697849	->A	Likely-pathogenic	Stop gained, coding sequence variant, frameshift variant, non coding transcript variant
rs1581727126	C>AAGGT	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant

Show/Hide all(183)

miRTarBase ID	miRNA	Experiments	Reference
MIRT675252	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT675251	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT675250	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT675249	hsa-miR-940	HITS-CLIP	23824327
MIRT675248	hsa-miR-3929	HITS-CLIP	23824327
MIRT675247	hsa-miR-4419b	HITS-CLIP	23824327
MIRT675246	hsa-miR-4478	HITS-CLIP	23824327
MIRT675245	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT675244	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT675241	hsa-miR-665	HITS-CLIP	23824327
MIRT675240	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT680188	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT675239	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT675238	hsa-miR-1827	HITS-CLIP	23824327
MIRT675237	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT675236	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT675235	hsa-miR-6134	HITS-CLIP	23824327
MIRT675232	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT675231	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT675230	hsa-miR-3689d	HITS-CLIP	23824327
MIRT675229	hsa-miR-6851-5p	HITS-CLIP	23824327
MIRT675228	hsa-miR-6880-5p	HITS-CLIP	23824327
MIRT675227	hsa-miR-7847-3p	HITS-CLIP	23824327
MIRT680187	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT675226	hsa-miR-1273e	HITS-CLIP	23824327
MIRT675252	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT675251	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT675250	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT675249	hsa-miR-940	HITS-CLIP	23824327
MIRT675248	hsa-miR-3929	HITS-CLIP	23824327
MIRT675247	hsa-miR-4419b	HITS-CLIP	23824327
MIRT675246	hsa-miR-4478	HITS-CLIP	23824327
MIRT675245	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT675244	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT675243	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT675242	hsa-miR-4459	HITS-CLIP	23824327
MIRT675241	hsa-miR-665	HITS-CLIP	23824327
MIRT675240	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT675239	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT675238	hsa-miR-1827	HITS-CLIP	23824327
MIRT675237	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT675236	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT675235	hsa-miR-6134	HITS-CLIP	23824327
MIRT675234	hsa-miR-377-5p	HITS-CLIP	23824327
MIRT675233	hsa-miR-6086	HITS-CLIP	23824327
MIRT675232	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT675231	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT675230	hsa-miR-3689d	HITS-CLIP	23824327
MIRT675229	hsa-miR-6851-5p	HITS-CLIP	23824327
MIRT675228	hsa-miR-6880-5p	HITS-CLIP	23824327
MIRT675227	hsa-miR-7847-3p	HITS-CLIP	23824327
MIRT675226	hsa-miR-1273e	HITS-CLIP	23824327
MIRT675252	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT675251	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT675250	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT675249	hsa-miR-940	HITS-CLIP	23824327
MIRT675248	hsa-miR-3929	HITS-CLIP	23824327
MIRT675247	hsa-miR-4419b	HITS-CLIP	23824327
MIRT675246	hsa-miR-4478	HITS-CLIP	23824327
MIRT675245	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT675244	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT675241	hsa-miR-665	HITS-CLIP	23824327
MIRT675240	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT680188	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT675239	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT675238	hsa-miR-1827	HITS-CLIP	23824327
MIRT675237	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT675236	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT675235	hsa-miR-6134	HITS-CLIP	23824327
MIRT675232	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT675231	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT675230	hsa-miR-3689d	HITS-CLIP	23824327
MIRT675229	hsa-miR-6851-5p	HITS-CLIP	23824327
MIRT675228	hsa-miR-6880-5p	HITS-CLIP	23824327
MIRT675227	hsa-miR-7847-3p	HITS-CLIP	23824327
MIRT680187	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT675226	hsa-miR-1273e	HITS-CLIP	23824327
MIRT675252	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT675251	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT675250	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT675249	hsa-miR-940	HITS-CLIP	23824327
MIRT675248	hsa-miR-3929	HITS-CLIP	23824327
MIRT675247	hsa-miR-4419b	HITS-CLIP	23824327
MIRT675246	hsa-miR-4478	HITS-CLIP	23824327
MIRT675245	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT675244	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT675243	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT675242	hsa-miR-4459	HITS-CLIP	23824327
MIRT675241	hsa-miR-665	HITS-CLIP	23824327
MIRT675240	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT675239	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT675238	hsa-miR-1827	HITS-CLIP	23824327
MIRT675237	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT675236	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT675235	hsa-miR-6134	HITS-CLIP	23824327
MIRT675234	hsa-miR-377-5p	HITS-CLIP	23824327
MIRT675233	hsa-miR-6086	HITS-CLIP	23824327
MIRT675232	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT675231	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT675230	hsa-miR-3689d	HITS-CLIP	23824327
MIRT675229	hsa-miR-6851-5p	HITS-CLIP	23824327
MIRT675228	hsa-miR-6880-5p	HITS-CLIP	23824327
MIRT675227	hsa-miR-7847-3p	HITS-CLIP	23824327
MIRT675226	hsa-miR-1273e	HITS-CLIP	23824327
MIRT1126469	hsa-miR-1227	CLIP-seq
MIRT1126470	hsa-miR-1254	CLIP-seq
MIRT1126471	hsa-miR-155	CLIP-seq
MIRT1126472	hsa-miR-3116	CLIP-seq
MIRT1126473	hsa-miR-34b	CLIP-seq
MIRT1126474	hsa-miR-3611	CLIP-seq
MIRT1126475	hsa-miR-365	CLIP-seq
MIRT1126476	hsa-miR-3690	CLIP-seq
MIRT1126477	hsa-miR-371-3p	CLIP-seq
MIRT1126478	hsa-miR-371b-3p	CLIP-seq
MIRT1126479	hsa-miR-3977	CLIP-seq
MIRT1126480	hsa-miR-4252	CLIP-seq
MIRT1126481	hsa-miR-4638-3p	CLIP-seq
MIRT1126482	hsa-miR-4731-3p	CLIP-seq
MIRT1126483	hsa-miR-4793-3p	CLIP-seq
MIRT1126484	hsa-miR-4801	CLIP-seq
MIRT1126485	hsa-miR-508-5p	CLIP-seq
MIRT1126486	hsa-miR-515-3p	CLIP-seq
MIRT1126487	hsa-miR-519e	CLIP-seq
MIRT1126488	hsa-miR-759	CLIP-seq
MIRT1126489	hsa-miR-766	CLIP-seq
MIRT1126469	hsa-miR-1227	CLIP-seq
MIRT1126470	hsa-miR-1254	CLIP-seq
MIRT1126490	hsa-miR-3065-5p	CLIP-seq
MIRT1126472	hsa-miR-3116	CLIP-seq
MIRT1126473	hsa-miR-34b	CLIP-seq
MIRT1126491	hsa-miR-3646	CLIP-seq
MIRT1126476	hsa-miR-3690	CLIP-seq
MIRT1126492	hsa-miR-3978	CLIP-seq
MIRT1126480	hsa-miR-4252	CLIP-seq
MIRT1126481	hsa-miR-4638-3p	CLIP-seq
MIRT1126482	hsa-miR-4731-3p	CLIP-seq
MIRT1126483	hsa-miR-4793-3p	CLIP-seq
MIRT1126493	hsa-miR-4796-5p	CLIP-seq
MIRT1126484	hsa-miR-4801	CLIP-seq
MIRT1126485	hsa-miR-508-5p	CLIP-seq
MIRT1126494	hsa-miR-570	CLIP-seq
MIRT1126489	hsa-miR-766	CLIP-seq
MIRT1126473	hsa-miR-34b	CLIP-seq
MIRT1126483	hsa-miR-4793-3p	CLIP-seq
MIRT1126470	hsa-miR-1254	CLIP-seq
MIRT2266169	hsa-miR-1322	CLIP-seq
MIRT2266170	hsa-miR-141	CLIP-seq
MIRT1126471	hsa-miR-155	CLIP-seq
MIRT2266171	hsa-miR-198	CLIP-seq
MIRT2266172	hsa-miR-200a	CLIP-seq
MIRT2266173	hsa-miR-2964a-5p	CLIP-seq
MIRT1126472	hsa-miR-3116	CLIP-seq
MIRT2266174	hsa-miR-3122	CLIP-seq
MIRT2266175	hsa-miR-3149	CLIP-seq
MIRT2266176	hsa-miR-3165	CLIP-seq
MIRT1126473	hsa-miR-34b	CLIP-seq
MIRT2266177	hsa-miR-3622a-3p	CLIP-seq
MIRT2266178	hsa-miR-3622b-3p	CLIP-seq
MIRT1126475	hsa-miR-365	CLIP-seq
MIRT2266179	hsa-miR-3665	CLIP-seq
MIRT2266180	hsa-miR-3689a-3p	CLIP-seq
MIRT2266181	hsa-miR-3689c	CLIP-seq
MIRT1126476	hsa-miR-3690	CLIP-seq
MIRT2266182	hsa-miR-3913-5p	CLIP-seq
MIRT2266183	hsa-miR-4265	CLIP-seq
MIRT2266184	hsa-miR-4296	CLIP-seq
MIRT2266185	hsa-miR-4318	CLIP-seq
MIRT2266186	hsa-miR-4322	CLIP-seq
MIRT2266187	hsa-miR-4325	CLIP-seq
MIRT2266188	hsa-miR-4417	CLIP-seq
MIRT2266189	hsa-miR-4433	CLIP-seq
MIRT1126481	hsa-miR-4638-3p	CLIP-seq
MIRT2266190	hsa-miR-4728-5p	CLIP-seq
MIRT1126482	hsa-miR-4731-3p	CLIP-seq
MIRT2266191	hsa-miR-4736	CLIP-seq
MIRT1126483	hsa-miR-4793-3p	CLIP-seq
MIRT1126484	hsa-miR-4801	CLIP-seq
MIRT1126485	hsa-miR-508-5p	CLIP-seq
MIRT2266192	hsa-miR-544b	CLIP-seq
MIRT2266193	hsa-miR-568	CLIP-seq
MIRT1126489	hsa-miR-766	CLIP-seq
MIRT1126473	hsa-miR-34b	CLIP-seq
MIRT1126473	hsa-miR-34b	CLIP-seq

Show/Hide all(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IDA	21825139
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	16951154
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	2183027
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	16951154, 21986944
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12084720
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21986944
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0006468	Process	Protein phosphorylation	IDA	21986944
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	NAS	2183027
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IDA	21986944
GO:0030496	Component	Midbody	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042073	Process	Intraciliary transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046777	Process	Protein autophosphorylation	IMP	21986944
GO:0046872	Function	Metal ion binding	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0072686	Component	Mitotic spindle	IDA	21986944
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902856	Process	Negative regulation of non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
154235	6816	ENSG00000111837

Protein

UniProt ID

P20794

Protein name

Serine/threonine-protein kinase MAK (EC 2.7.11.1) (Male germ cell-associated kinase)

Protein function

Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	4 → 284	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in prostate cancer cell lines at generally higher levels than in normal prostate epithelial cell lines. Isoform 1 is expressed in kidney, testis, lung, trachea, and retina. Isoform 2 is retina-specific where it is expressed i

Sequence

MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDECMNLREVKSLKKLNHA
NVIKLKEVIRENDHLYFIFEYMKENLYQLMKDRNKLFPESVIRNIMYQILQGLAFIHKHG
FFHRDMKPENLLCMGPELVKIADFGLARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSP
IDVWAVGSIMAELYMLRPLFPGTSEVDEIFKICQVLGTPKKSDWPEGYQLASSMNFRFPQ
CVPINLKTLIPNASNEAIQLMTEMLNWDPKKRPTASQALKHPYFQVGQVLGPSSNHLESK
QSLNKQLQPLESKPSLVEVEPKPLPDIIDQVVGQPQPKTSQQPLQPIQPPQNLSVQQPPK
QQSQEKPPQTLFPSIVKNMPTKPNGTLSHKSGRRRWGQTIFKSGDSWEELEDYDFGASHS
KKPSMGVFKEKRKKDSPFRLPEPVPSGSNHSTGENKSLPAVTSLKSDSELSTAPTSKQYY
LKQSRYLPGVNPKKVSLIASGKEINPHTWSNQLFPKSLGPVGAELAFKRSNAGNLGSYAT
YNQSGYIPSFLKKEVQSAGQRIHLAPLNATASEYTWNTKTGRGQFSGRTYNPTAKNLNIV
NRAQPIPSVHGRTDWVAKYGGHR

Sequence length

623

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs1201940872, rs762837543, rs387906646, rs527236082, rs1039053911, rs1347914291, rs754916169	N/A
Retinitis Pigmentosa	retinitis pigmentosa 62, retinitis pigmentosa	rs754916169, rs779514800, rs387906646, rs186643840, rs762837543, rs387906648, rs1581697849, rs753314164, rs527236082, rs1581727126, rs1773160727, rs886043417	N/A
Macular dystrophy	Isolated macular dystrophy	rs1347914291	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Otosclerosis	Otosclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Azoospermia Nonobstructive	Associate	38403804
Cone Rod Dystrophies	Associate	29103961
Male Germ Cell Tumor	Associate	22110072
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	26662397
Myopathies Nemaline	Associate	22110072
Neoplasms	Associate	25755699
Prostatic Neoplasms	Associate	21986944
Prostatitis	Associate	21986944
Retinal Degeneration	Associate	29103961
Retinal Diseases	Associate	22110072, 25446321
Retinal Dystrophies	Associate	34996991
Retinitis Pigmentosa	Associate	21825139, 22110072, 25255364, 25385675, 25446321, 32000842
RHYNS syndrome	Associate	25385675
Vision Disorders	Associate	25385675

MAK (male germ cell associated kinase)