Gene Gene information from NCBI Gene database.
Entrez ID 2011
Gene name Microtubule affinity regulating kinase 2
Gene symbol MARK2
Synonyms (NCBI Gene)
EMK-1EMK1MRD76PAR-1Par-1bPar1b
Chromosome 11
Chromosome location 11q13.1
Summary This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inacti
miRNA miRNA information provided by mirtarbase database.
318
miRTarBase ID miRNA Experiments Reference
MIRT048862 hsa-miR-93-5p CLASH 23622248
MIRT048691 hsa-miR-99a-5p CLASH 23622248
MIRT044813 hsa-miR-320a CLASH 23622248
MIRT041517 hsa-miR-193b-3p CLASH 23622248
MIRT437446 hsa-miR-190a-5p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 24009311
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000287 Function Magnesium ion binding IDA 14976552
GO:0000422 Process Autophagy of mitochondrion NAS 24522549
GO:0001764 Process Neuron migration ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600526 3332 ENSG00000072518
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7KZI7
Protein name Serine/threonine-protein kinase MARK2 (EC 2.7.11.1) (EC 2.7.11.26) (ELKL motif kinase 1) (EMK-1) (MAP/microtubule affinity-regulating kinase 2) (PAR1 homolog) (PAR1 homolog b) (Par-1b) (Par1b)
Protein function Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2. Phosphorylates the microtubule-associated protein MAPT/TA
PDB 3IEC , 5EAK , 5KZ7 , 5KZ8 , 8TXY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 53 304 Protein kinase domain Domain
PF00627 UBA 324 360 UBA/TS-N domain Domain
PF02149 KA1 744 788 Kinase associated domain 1 Domain
Tissue specificity TISSUE SPECIFICITY: High levels of expression in heart, brain, skeletal muscle and pancreas, lower levels observed in lung, liver and kidney. {ECO:0000269|PubMed:9730619}.
Sequence
MSSARTPLPTLNERDTEQPTLGHLDSKPSSKSNMIRGRNSATSADEQPHIGNYRLLKTIG
KGNFAKVKLARHILTGKEVAVKIIDKTQLNSSSLQKLFREVRIMKVLNHPNIVKLFEVIE
TEKTLYLVMEYASGGEVFDYLVAHGRMKEKEARAKFRQIVSAVQYCHQKFIVHRDLKAEN
LLLDADMNIKIADFGFSNEFTFGNKLDTFCGSPPYAAPELFQGKKYDGPEVDVWSLGVIL
YTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLLKKFLILNPSKRGTLEQIMK
DRWM
NVGHEDDELKPYVEPLPDYKDPRRTELMVSMGYTREEIQDSLVGQRYNEVMATYLL
LGYKSSELEGDTITLKPRPSADLTNSSAPSPSHKVQRSVSANPKQRRFSDQAAGPAIPTS
NSYSKKTQSNNAENKRPEEDRESGRKASSTAKVPASPLPGLERKKTTPTPSTNSVLSTST
NRSRNSPLLERASLGQASIQNGKDSLTMPGSRASTASASAAVSAARPRQHQKSMSASVHP
NKASGLPPTESNCEVPRPSTAPQRVPVASPSAHNISSSGGAPDRTNFPRGVSSRSTFHAG
QLRQVRDQQNLPYGVTPASPSGHSQGRRGASGSIFSKFTSKFVRRNLSFRFARRNLNEPE
SKDRVETLRPHVVGSGGNDKEKEEFREAKPRSLRFTWSMKTTSSMEPNEMMREIRKVLDA
NSCQSELHEKYMLLCMHGTPGHEDFVQWEMEVCKLPRLSLNGVRFKRISGTSMAFKNIAS
KIANELKL
Sequence length 788
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
46
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Pathogenic; Likely pathogenic rs868032104, rs2539321295, rs2539322573, rs1940823816, rs2539326870, rs2539330444, rs2539332826, rs1941197590, rs2539306245, rs2539335503, rs2539336006, rs1252482376, rs1369701108, rs2539350226, rs2539350467
View all (8 more)
RCV004593554
RCV004593555
RCV004593557
RCV004593558
RCV004593559
RCV004593560
RCV004593561
RCV004593562
RCV004593563
RCV004593564
RCV004593566
RCV004593567
RCV004593568
RCV004593569
RCV004593570
RCV004593571
RCV004593572
RCV004593573
RCV004593574
RCV004593575
RCV004593576
RCV004593577
RCV004593578
Intellectual developmental disorder, autosomal dominant 76 Pathogenic; Likely pathogenic rs2539321295, rs2539350226, rs2539350467, rs2539306253, rs2539313698, rs2539315343 RCV005622270
RCV005622271
RCV005622272
RCV005622273
RCV005622274
RCV006254406
Intellectual disability Likely pathogenic rs1252482376 RCV005410971
Malignant tumor of urinary bladder Pathogenic rs2539322573 RCV005933654
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56291692 RCV005902819
Cervical cancer Benign rs56291692 RCV005902820
Colon adenocarcinoma Benign rs56291692 RCV005902818
Developmental disorder Likely benign rs2135335880 RCV001843802
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 21811019
Alzheimer Disease 15 Associate 16472737
Antiphospholipid Syndrome Associate 37901230
Attention Deficit Disorder with Hyperactivity Associate 32066674
Autistic Disorder Associate 35982159
Bipolar Disorder Associate 34953473
Carcinogenesis Associate 35743080
Carcinoma Non Small Cell Lung Associate 25907283, 36922348
Diabetes Mellitus Associate 18626018
Infections Associate 35743080