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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4140
Gene name	Microtubule affinity regulating kinase 3
Gene symbol	MARK3
Synonyms (NCBI Gene)	CTAK1KP78PAR1APar-1aVIPB
Chromosome	14
Chromosome location	14q32.32-q32.33
Summary	The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct

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SNP ID	Visualize variation	Clinical significance	Consequence
rs376395495	C>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant

119

Show/Hide all (119)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043531	hsa-miR-331-3p	CLASH	23622248
MIRT1132648	hsa-miR-1228	CLIP-seq
MIRT1132649	hsa-miR-1270	CLIP-seq
MIRT1132650	hsa-miR-1912	CLIP-seq
MIRT1132651	hsa-miR-302f	CLIP-seq
MIRT1132652	hsa-miR-3612	CLIP-seq
MIRT1132653	hsa-miR-4255	CLIP-seq
MIRT1132654	hsa-miR-4302	CLIP-seq
MIRT1132655	hsa-miR-4683	CLIP-seq
MIRT1132656	hsa-miR-4717-3p	CLIP-seq
MIRT1132657	hsa-miR-4775	CLIP-seq
MIRT1132658	hsa-miR-4802-3p	CLIP-seq
MIRT1132659	hsa-miR-483-5p	CLIP-seq
MIRT1132660	hsa-miR-499-3p	CLIP-seq
MIRT1132661	hsa-miR-499a-3p	CLIP-seq
MIRT1132662	hsa-miR-570	CLIP-seq
MIRT1132663	hsa-miR-587	CLIP-seq
MIRT1132664	hsa-miR-620	CLIP-seq
MIRT1132665	hsa-miR-650	CLIP-seq
MIRT1132666	hsa-miR-873	CLIP-seq
MIRT1132667	hsa-miR-1273f	CLIP-seq
MIRT1132668	hsa-miR-329	CLIP-seq
MIRT1132669	hsa-miR-362-3p	CLIP-seq
MIRT1132670	hsa-miR-3675-5p	CLIP-seq
MIRT1132671	hsa-miR-4431	CLIP-seq
MIRT1132672	hsa-miR-1321	CLIP-seq
MIRT1132673	hsa-miR-140-3p	CLIP-seq
MIRT1132674	hsa-miR-199a-5p	CLIP-seq
MIRT1132675	hsa-miR-199b-5p	CLIP-seq
MIRT1132676	hsa-miR-2115	CLIP-seq
MIRT1132677	hsa-miR-3064-5p	CLIP-seq
MIRT1132678	hsa-miR-30a	CLIP-seq
MIRT1132679	hsa-miR-30b	CLIP-seq
MIRT1132680	hsa-miR-30c	CLIP-seq
MIRT1132681	hsa-miR-30d	CLIP-seq
MIRT1132682	hsa-miR-30e	CLIP-seq
MIRT1132683	hsa-miR-3162-5p	CLIP-seq
MIRT1132684	hsa-miR-3545-3p	CLIP-seq
MIRT1132685	hsa-miR-3607-3p	CLIP-seq
MIRT1132686	hsa-miR-4280	CLIP-seq
MIRT1132687	hsa-miR-4708-5p	CLIP-seq
MIRT1132688	hsa-miR-4739	CLIP-seq
MIRT1132689	hsa-miR-4742-3p	CLIP-seq
MIRT1132690	hsa-miR-4756-5p	CLIP-seq
MIRT1132691	hsa-miR-495	CLIP-seq
MIRT1132692	hsa-miR-516a-3p	CLIP-seq
MIRT1132693	hsa-miR-548aa	CLIP-seq
MIRT1132694	hsa-miR-604	CLIP-seq
MIRT1132695	hsa-miR-647	CLIP-seq
MIRT1132696	hsa-miR-649	CLIP-seq
MIRT2037801	hsa-miR-1207-5p	CLIP-seq
MIRT2037802	hsa-miR-1266	CLIP-seq
MIRT2037803	hsa-miR-1284	CLIP-seq
MIRT1132672	hsa-miR-1321	CLIP-seq
MIRT2037804	hsa-miR-137	CLIP-seq
MIRT2037805	hsa-miR-1909	CLIP-seq
MIRT2037806	hsa-miR-191	CLIP-seq
MIRT2037807	hsa-miR-1915	CLIP-seq
MIRT1132674	hsa-miR-199a-5p	CLIP-seq
MIRT1132675	hsa-miR-199b-5p	CLIP-seq
MIRT1132676	hsa-miR-2115	CLIP-seq
MIRT1132683	hsa-miR-3162-5p	CLIP-seq
MIRT2037808	hsa-miR-3664-3p	CLIP-seq
MIRT1132653	hsa-miR-4255	CLIP-seq
MIRT1132686	hsa-miR-4280	CLIP-seq
MIRT1132654	hsa-miR-4302	CLIP-seq
MIRT1132671	hsa-miR-4431	CLIP-seq
MIRT2037809	hsa-miR-4436b-3p	CLIP-seq
MIRT2037810	hsa-miR-4488	CLIP-seq
MIRT2037811	hsa-miR-4518	CLIP-seq
MIRT2037812	hsa-miR-4697-5p	CLIP-seq
MIRT1132687	hsa-miR-4708-5p	CLIP-seq
MIRT2037813	hsa-miR-4726-3p	CLIP-seq
MIRT1132688	hsa-miR-4739	CLIP-seq
MIRT1132690	hsa-miR-4756-5p	CLIP-seq
MIRT2037814	hsa-miR-4761-3p	CLIP-seq
MIRT2037815	hsa-miR-4763-3p	CLIP-seq
MIRT2037816	hsa-miR-4774-3p	CLIP-seq
MIRT2037817	hsa-miR-4795-3p	CLIP-seq
MIRT1132692	hsa-miR-516a-3p	CLIP-seq
MIRT1132662	hsa-miR-570	CLIP-seq
MIRT1132663	hsa-miR-587	CLIP-seq
MIRT2037818	hsa-miR-656	CLIP-seq
MIRT1132666	hsa-miR-873	CLIP-seq
MIRT1132648	hsa-miR-1228	CLIP-seq
MIRT2267840	hsa-miR-1238	CLIP-seq
MIRT1132649	hsa-miR-1270	CLIP-seq
MIRT1132667	hsa-miR-1273f	CLIP-seq
MIRT2267841	hsa-miR-182	CLIP-seq
MIRT1132650	hsa-miR-1912	CLIP-seq
MIRT2267842	hsa-miR-29a	CLIP-seq
MIRT2267843	hsa-miR-29b	CLIP-seq
MIRT2267844	hsa-miR-29c	CLIP-seq
MIRT2267845	hsa-miR-3189-3p	CLIP-seq
MIRT2267846	hsa-miR-342-3p	CLIP-seq
MIRT1132652	hsa-miR-3612	CLIP-seq
MIRT1132670	hsa-miR-3675-5p	CLIP-seq
MIRT2267847	hsa-miR-409-3p	CLIP-seq
MIRT2267848	hsa-miR-4307	CLIP-seq
MIRT1132655	hsa-miR-4683	CLIP-seq
MIRT2267849	hsa-miR-4691-5p	CLIP-seq
MIRT2267850	hsa-miR-4695-3p	CLIP-seq
MIRT1132656	hsa-miR-4717-3p	CLIP-seq
MIRT1132658	hsa-miR-4802-3p	CLIP-seq
MIRT1132659	hsa-miR-483-5p	CLIP-seq
MIRT1132664	hsa-miR-620	CLIP-seq
MIRT1132665	hsa-miR-650	CLIP-seq
MIRT1132648	hsa-miR-1228	CLIP-seq
MIRT1132649	hsa-miR-1270	CLIP-seq
MIRT1132667	hsa-miR-1273f	CLIP-seq
MIRT1132650	hsa-miR-1912	CLIP-seq
MIRT1132652	hsa-miR-3612	CLIP-seq
MIRT1132670	hsa-miR-3675-5p	CLIP-seq
MIRT1132655	hsa-miR-4683	CLIP-seq
MIRT1132656	hsa-miR-4717-3p	CLIP-seq
MIRT1132658	hsa-miR-4802-3p	CLIP-seq
MIRT1132659	hsa-miR-483-5p	CLIP-seq
MIRT1132664	hsa-miR-620	CLIP-seq
MIRT1132665	hsa-miR-650	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	16822840
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	9543386, 12941695, 16822840, 16980613
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	28386764
GO:0005515	Function	Protein binding	IPI	12556533, 12941695, 14676191, 15161933, 15778465, 16169070, 16189514, 16306228, 16959763, 16980613, 17979178, 22046132, 23666762, 24255178, 25852190, 28087714, 28514442, 32707033, 33961781, 35271311, 36931259, 37207277
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23666762
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	9543386
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21145462
GO:0005886	Component	Plasma membrane	IEA
GO:0006468	Process	Protein phosphorylation	IMP	23666762
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	IDA	9543386
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	9543386
GO:0030425	Component	Dendrite	IDA	23666762
GO:0030425	Component	Dendrite	IEA
GO:0035331	Process	Negative regulation of hippo signaling	IDA	28087714
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0042995	Component	Cell projection	IEA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0050321	Function	Tau-protein kinase activity	IBA
GO:0050321	Function	Tau-protein kinase activity	IMP	23666762
GO:0050321	Function	Tau-protein kinase activity	NAS	28386764
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900181	Process	Negative regulation of protein localization to nucleus	IDA	16822840

MIM	HGNC	e!Ensembl
602678	6897	ENSG00000075413

P27448

Protein name

MAP/microtubule affinity-regulating kinase 3 (EC 2.7.11.1) (C-TAK1) (cTAK1) (Cdc25C-associated protein kinase 1) (ELKL motif kinase 2) (EMK-2) (Protein kinase STK10) (Ser/Thr protein kinase PAR-1) (Par-1a) (Serine/threonine-protein kinase p78)

Protein function

Serine/threonine-protein kinase (PubMed:16822840, PubMed:16980613, PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMe

PDB

2QNJ , 3FE3 , 7P1L , 8UOH , 8UOI , 8UOJ , 8UOK , 8UOL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	56 → 307	Protein kinase domain	Domain
PF00627	UBA	327 → 363	UBA/TS-N domain	Domain
PF02149	KA1	709 → 753	Kinase associated domain 1	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLK
TIGKGNFAKVKLARHILTGREVAIKIIDKTQLNPTSLQKLFREVRIMKILNHPNIVKLFE
VIETEKTLYLIMEYASGGEVFDYLVAHGRMKEKEARSKFRQIVSAVQYCHQKRIVHRDLK
AENLLLDADMNIKIADFGFSNEFTVGGKLDTFCGSPPYAAPELFQGKKYDGPEVDVWSLG
VILYTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLLKRFLVLNPIKRGTLEQ
IMKDRWINAGHEEDELKPFVEPELDISDQKRIDIMVGMGYSQEEIQESLSKMKYDEITAT
YLLLGRKSSELDASDSSSSSNLSLAKVRPSSDLNNSTGQSPHHKVQRSVSSSQKQRRYSD
HAGPAIPSVVAYPKRSQTSTADSDLKEDGISSRKSSGSAVGGKGIAPASPMLGNASNPNK
ADIPERKKSSTVPSSNTASGGMTRRNTYVCSERTTADRHSVIQNGKENSTIPDQRTPVAS
THSISSAATPDRIRFPRGTASRSTFHGQPRERRTATYNGPPASPSLSHEATPLSQTRSRG
STNLFSKLTSKLTRRNMSFRFIKRLPTEYERNGRYEGSSRNVSAEQKDENKEAKPRSLRF
TWSMKTTSSMDPGDMMREIRKVLDANNCDYEQRERFLLFCVHGDGHAENLVQWEMEVCKL
PRLSLNGVRFKRISGTSIAFKNIASKIANELKL

Sequence length

753

Interactions

View interactions

	Reactome
			RAF activation MAP2K and MAPK activation Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Visual impairment and progressive phthisis bulbi	Pathogenic	rs376395495	RCV000736034	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF EYE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARK3-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	21811019, 24533944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29149441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	38087366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29149441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31161917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29145611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29145611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29145611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29145611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35017636	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	28988907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phthisis bulbi	Phthisis bulbi	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	20697106	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37923138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI	Visual impairment and progressive phthisis bulbi	UNIPROT_DG	29771303		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

MARK3 (microtubule affinity regulating kinase 3)