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Aliases for MARK2 Gene

Aliases for MARK2 Gene

  • Microtubule Affinity Regulating Kinase 2 2 3 5
  • MAP/Microtubule Affinity-Regulating Kinase 2 2 3 4
  • ELKL Motif Kinase 1 2 3 4
  • Ser/Thr Protein Kinase PAR-1B 2 3
  • PAR1 Homolog B 3 4
  • EC 2.7.11.1 4 56
  • Par-1b 3 4
  • EMK-1 3 4
  • Par1b 3 4
  • EMK1 3 4
  • Serine/Threonine-Protein Kinase MARK2 3
  • Serine/Threonine Protein Kinase EMK 3
  • Testicular Tissue Protein Li 117 3
  • Protein-Serine/Threonine Kinase 2
  • Serine/Threonine Kinase 2
  • ELKL Motif Kinase 2
  • PAR1 Homolog 4
  • EC 2.7.11.26 4
  • EC 2.7.11 56
  • PAR-1 3

External Ids for MARK2 Gene

Previous HGNC Symbols for MARK2 Gene

  • EMK1

Previous GeneCards Identifiers for MARK2 Gene

  • GC11P066121
  • GC11P065286
  • GC11P063382
  • GC11P063431
  • GC11P063363
  • GC11P063606
  • GC11P059934

Summaries for MARK2 Gene

Entrez Gene Summary for MARK2 Gene

  • 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 inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

GeneCards Summary for MARK2 Gene

MARK2 (Microtubule Affinity Regulating Kinase 2) is a Protein Coding gene. Diseases associated with MARK2 include Asthenopia. Among its related pathways are LKB1 signaling events and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is MARK1.

UniProtKB/Swiss-Prot for MARK2 Gene

  • Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4, MAPT/TAU, and RAB11FIP2. Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Regulates axogenesis by phosphorylating KIF13B, promoting interaction between KIF13B and 14-3-3 and inhibiting microtubule-dependent accumulation of KIF13B. Also required for neurite outgrowth and establishment of neuronal polarity. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3). Modulates the developmental decision to build a columnar versus a hepatic epithelial cell apparently by promoting a switch from a direct to a transcytotic mode of apical protein delivery. Essential for the asymmetric development of membrane domains of polarized epithelial cells.

Gene Wiki entry for MARK2 Gene

Additional gene information for MARK2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MARK2 Gene

Genomics for MARK2 Gene

GeneHancer (GH) Regulatory Elements for MARK2 Gene

Promoters and enhancers for MARK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I063837 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.3 +1.6 1638 6.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 YY1 ZNF207 ZNF143 DEK MARK2 SF1 SNHG1 NAA40 RNU6-1306P PLCB3 CCND2P1 COX8A FERMT3 RTN3
GH11I063886 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 562.4 +49.9 49855 4 HDGF ARID4B SIN3A DMAP1 ZNF48 SLC30A9 POLR2B ZNF766 FOS RUNX3 MARK2 SPINDOC GC11M063878 TRR-CCT9-1 GC11M063888
GH11I063865 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.4 +31.4 31447 9.8 HDGF FOXA2 PKNOX1 SMAD1 ARID4B SIN3A FEZF1 IRF4 YY1 SLC30A9 NAA40 MARK2 SPINDOC RTN3 PLA2G16 LOC105369340 GC11M063862 RNU6-1306P
GH11I063862 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.5 +24.0 24014 1.4 ELF3 FOXA2 MLX ARID4B ZNF48 ZSCAN9 RAD21 RARA YY1 THAP11 GC11M063862 MARK2 NAA40 SPINDOC RTN3 ENSG00000256341 COX8A RNU6-1306P
GH11I064354 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.1 +519.0 519046 6.6 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A ZBTB7B YY1 RPS6KA4 LOC102723878 PLCB3 ENSG00000231680 TRPT1 MARK2 PPP1R14B ESRRA PRDX5 TRMT112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MARK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MARK2 gene promoter:

Genomic Locations for MARK2 Gene

Genomic Locations for MARK2 Gene
chr11:63,838,928-63,911,020
(GRCh38/hg38)
Size:
72,093 bases
Orientation:
Plus strand
chr11:63,606,400-63,678,492
(GRCh37/hg19)

Genomic View for MARK2 Gene

Genes around MARK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARK2 Gene

Proteins for MARK2 Gene

  • Protein details for MARK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7KZI7-MARK2_HUMAN
    Recommended name:
    Serine/threonine-protein kinase MARK2
    Protein Accession:
    Q7KZI7
    Secondary Accessions:
    • Q15449
    • Q15524
    • Q5XGA3
    • Q68A18
    • Q96HB3
    • Q96RG0

    Protein attributes for MARK2 Gene

    Size:
    788 amino acids
    Molecular mass:
    87911 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer. Interacts with PAK5; leading to inhibit the protein kinase activity (By similarity). Interacts with MTCL1 isoform 1; the interaction is direct and increases MARK2 microtubule-binding ability. Interacts (when phosphorylated at Thr-596) with YWHAZ. In case of infection, interacts with H.pylori CagA, leading to inhibit kinase activity and junctional and polarity defects.
    SequenceCaution:
    • Sequence=AAK82368.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MARK2 Gene

neXtProt entry for MARK2 Gene

Selected DME Specific Peptides for MARK2 Gene

Q7KZI7:
  • SLQKLFREVRIMK
  • TIGKGNFA
  • GPEVDVWS
  • VQWEMEVCKLPRLSLNGVRFKRISGTS
  • LVAHGRM
  • KIIDKTQL
  • FRQIVSA
  • EYASGGE
  • FAKVKLA
  • WSLGVILY
  • IVHRDLKAENLLLDADMNIKI
  • RQIVSAV
  • NLKELRERVLRGKYR
  • GEVFDYLV
  • DFGFSNEFT
  • WSLGVILYTLVSGSLPFDG
  • LNHPNIVKLFEVIETEKTLYL
  • GSPPYAAPE
  • HKVQRSVS
  • DEQPHIGNYRL
  • REIRKVLDAN
  • NHPNIVKL
  • IVHRDLK

Post-translational modifications for MARK2 Gene

  • Autophosphorylated. Phosphorylated at Thr-208 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Phosphorylation at Thr-208 by TAOK1 activates the kinase activity, leading to phosphorylation and detachment of MAPT/TAU from microtubules. Phosphorylation at Ser-212 by GSK3-beta (GSK3B) inhibits the kinase activity. Phosphorylation by CaMK1 promotes activity and is required to promote neurite outgrowth. Phosphorylation at Thr-596 by PRKCZ/aPKC in polarized epithelial cells inhibits the kinase activity and promotes binding to 14-3-3 protein YWHAZ, leading to relocation from cell membrane to cytoplasm.
  • Ubiquitination at isoforms=10, 11, 12, 13, 14, 15, 16, 2, 3, 4, 5, 6, 7, 8, 9637

Domains & Families for MARK2 Gene

Gene Families for MARK2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MARK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q7KZI7

UniProtKB/Swiss-Prot:

MARK2_HUMAN :
  • The UBA domain does not seem to bind ubiquitin and ubiquitin-like and might play a role in regulating the enzyme conformation and localization. Activation of the kinase activity following phosphorylation at Thr-208 is accompanied by a conformational change that alters the orientation of the UBA domain with respect to the catalytic domain.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
Domain:
  • The UBA domain does not seem to bind ubiquitin and ubiquitin-like and might play a role in regulating the enzyme conformation and localization. Activation of the kinase activity following phosphorylation at Thr-208 is accompanied by a conformational change that alters the orientation of the UBA domain with respect to the catalytic domain.
  • The KA1 domain mediates binding to phospholipids and targeting to membranes.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
genes like me logo Genes that share domains with MARK2: view

Function for MARK2 Gene

Molecular function for MARK2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [tau protein] = ADP + [tau protein] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by PAK5; inhibition is independent of the kinase activity of PAK5 (By similarity). Activated by phosphorylation on Thr-208. Inhibited by phosphorylation at Ser-212 and Thr-596. Inhibited by hymenialdisine. Specifically inhibited by the H.pylori CagA peptide FPLKRHDKVDDLSK that mimics host substrates and binds to the kinase substrate-binding site.
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4, MAPT/TAU, and RAB11FIP2. Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Regulates axogenesis by phosphorylating KIF13B, promoting interaction between KIF13B and 14-3-3 and inhibiting microtubule-dependent accumulation of KIF13B. Also required for neurite outgrowth and establishment of neuronal polarity. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3). Modulates the developmental decision to build a columnar versus a hepatic epithelial cell apparently by promoting a switch from a direct to a transcytotic mode of apical protein delivery. Essential for the asymmetric development of membrane domains of polarized epithelial cells.

Enzyme Numbers (IUBMB) for MARK2 Gene

Phenotypes From GWAS Catalog for MARK2 Gene

Gene Ontology (GO) - Molecular Function for MARK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 14976552
GO:0003723 RNA binding IDA,HDA 22658674
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS,IEA 24522549
GO:0005515 protein binding IPI 14676191
genes like me logo Genes that share ontologies with MARK2: view
genes like me logo Genes that share phenotypes with MARK2: view

Animal Models for MARK2 Gene

MGI Knock Outs for MARK2:

Animal Model Products

CRISPR Products

miRNA for MARK2 Gene

miRTarBase miRNAs that target MARK2

Clone Products

  • Addgene plasmids for MARK2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MARK2 Gene

Localization for MARK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARK2 Gene

Cell membrane; Peripheral membrane protein. Cytoplasm. Lateral cell membrane. Cytoplasm, cytoskeleton. Note=Phosphorylation at Thr-596 by PRKCZ/aPKC and subsequent interaction with 14-3-3 protein YWHAZ promotes relocation from the cell membrane to the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MARK2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
mitochondrion 4
cytosol 3
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MARK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion NAS 24522549
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IDA 23902687
genes like me logo Genes that share ontologies with MARK2: view

Pathways & Interactions for MARK2 Gene

genes like me logo Genes that share pathways with MARK2: view

Pathways by source for MARK2 Gene

3 Cell Signaling Technology pathways for MARK2 Gene
2 BioSystems pathways for MARK2 Gene
1 Qiagen pathway for MARK2 Gene

SIGNOR curated interactions for MARK2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MARK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0000422 autophagy of mitochondrion NAS 24522549
GO:0001764 neuron migration ISS --
GO:0006468 protein phosphorylation IEA,NAS 8274451
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MARK2: view

Drugs & Compounds for MARK2 Gene

(2) Drugs for MARK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist 0

(2) Additional Compounds for MARK2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with MARK2: view

Transcripts for MARK2 Gene

Unigene Clusters for MARK2 Gene

MAP/microtubule affinity-regulating kinase 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for MARK2

Alternative Splicing Database (ASD) splice patterns (SP) for MARK2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^
SP1: - -
SP2: -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - - - -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1: - -
SP2: -
SP3: - - -
SP4: - -
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10:
SP11: - -

Relevant External Links for MARK2 Gene

GeneLoc Exon Structure for
MARK2
ECgene alternative splicing isoforms for
MARK2

Expression for MARK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MARK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MARK2 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for MARK2 Gene

This gene is overexpressed in Lung (10.3) and CD8 Tcells (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MARK2 Gene



Protein tissue co-expression partners for MARK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MARK2 Gene:

MARK2

SOURCE GeneReport for Unigene cluster for MARK2 Gene:

Hs.567261

mRNA Expression by UniProt/SwissProt for MARK2 Gene:

Q7KZI7-MARK2_HUMAN
Tissue specificity: High levels of expression in heart, brain, skeletal muscle and pancreas, lower levels observed in lung, liver and kidney.

Evidence on tissue expression from TISSUES for MARK2 Gene

  • Blood(4.3)
  • Nervous system(3.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with MARK2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MARK2 Gene

Orthologs for MARK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MARK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MARK2 33
  • 99.7 (n)
oppossum
(Monodelphis domestica)
Mammalia MARK2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MARK2 33 34
  • 94.29 (n)
cow
(Bos Taurus)
Mammalia MARK2 33 34
  • 93.39 (n)
mouse
(Mus musculus)
Mammalia Mark2 33 16 34
  • 93.08 (n)
rat
(Rattus norvegicus)
Mammalia Mark2 33
  • 91.87 (n)
lizard
(Anolis carolinensis)
Reptilia MARK2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mark2 33
  • 75.51 (n)
Str.11090 33
zebrafish
(Danio rerio)
Actinopterygii mark2a 34
  • 71 (a)
OneToMany
mark2b 33 34
  • 70.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta par-1 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea par-1 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToMany
Species where no ortholog for MARK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MARK2 Gene

ENSEMBL:
Gene Tree for MARK2 (if available)
TreeFam:
Gene Tree for MARK2 (if available)

Paralogs for MARK2 Gene

Paralogs for MARK2 Gene

genes like me logo Genes that share paralogs with MARK2: view

Variants for MARK2 Gene

Sequence variations from dbSNP and Humsavar for MARK2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000025447 -- 63,869,725(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000033263 -- 63,875,808(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000079057 -- 63,869,932(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000166145 -- 63,851,813(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000187336 -- 63,869,275(+) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MARK2 Gene

Variant ID Type Subtype PubMed ID
nsv951009 CNV deletion 24416366
nsv555181 CNV loss 21841781
nsv555180 CNV loss 21841781
nsv1145540 CNV deletion 24896259
nsv1134138 CNV deletion 24896259
nsv1127197 CNV deletion 24896259
esv3626654 CNV loss 21293372
esv2671472 CNV deletion 23128226
esv2660413 CNV deletion 23128226

Variation tolerance for MARK2 Gene

Residual Variation Intolerance Score: 5.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARK2 Gene

Disorders for MARK2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MARK2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
asthenopia
  • accommodative strain
- elite association - COSMIC cancer census association via MalaCards
Search MARK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MARK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MARK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MARK2 Gene

Publications for MARK2 Gene

  1. Human serine/threonine protein kinase EMK1: genomic structure and cDNA cloning of isoforms produced by alternative splicing. (PMID: 9730619) Espinosa L … Navarro E (Cytogenetics and cell genetics 1998) 2 3 4 22 58
  2. High loading dose of clopidogrel is unable to satisfactorily inhibit platelet reactivity in patients with glycoprotein IIIA gene polymorphism: a genetic substudy of PRAGUE-8 trial. (PMID: 19530321) Motovska Z … PRAGUE-8 study investigators (Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2009) 3 22 44 58
  3. aPKC acts upstream of PAR-1b in both the establishment and maintenance of mammalian epithelial polarity. (PMID: 15324659) Suzuki A … Ohno S (Current biology : CB 2004) 3 4 22 58
  4. Protein kinase MARK/PAR-1 is required for neurite outgrowth and establishment of neuronal polarity. (PMID: 12429843) Biernat J … Mandelkow EM (Molecular biology of the cell 2002) 3 4 22 58
  5. The novel PAR-1-binding protein MTCL1 has crucial roles in organizing microtubules in polarizing epithelial cells. (PMID: 23902687) Sato Y … Suzuki A (Journal of cell science 2013) 3 4 58

Products for MARK2 Gene

Sources for MARK2 Gene

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