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 2011] See more...

Aliases for MARK3 Gene

Aliases for MARK3 Gene

  • Microtubule Affinity Regulating Kinase 3 2 3 5
  • CTAK1 2 3 4 4
  • MAP/Microtubule Affinity-Regulating Kinase 3 2 3 4
  • Serine/Threonine-Protein Kinase P78 3 4
  • Cdc25C-Associated Protein Kinase 1 3 4
  • Ser/Thr Protein Kinase PAR-1 3 4
  • Protein Kinase STK10 3 4
  • ELKL Motif Kinase 2 3 4
  • EC 2.7.11.1 4 51
  • Par-1a 3 4
  • C-TAK1 3 4
  • EMK-2 3 4
  • KP78 2 3
  • EC 2.7.11 51
  • PAR-1A 2
  • PAR1A 3
  • MARK3 5
  • VIPB 3
  • EMK2 4

External Ids for MARK3 Gene

Previous GeneCards Identifiers for MARK3 Gene

  • GC14P101243
  • GC14P097667
  • GC14P101841
  • GC14P102921
  • GC14P103851
  • GC14P084029

Summaries for MARK3 Gene

Entrez Gene Summary for MARK3 Gene

  • 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 2011]

GeneCards Summary for MARK3 Gene

MARK3 (Microtubule Affinity Regulating Kinase 3) is a Protein Coding gene. Diseases associated with MARK3 include Visual Impairment And Progressive Phthisis Bulbi and Brain Stem Astrocytic Neoplasm. Among its related pathways are Negative regulation of MAPK pathway and RET signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MARK1.

UniProtKB/Swiss-Prot Summary for MARK3 Gene

  • Serine/threonine-protein kinase (PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on 'Ser-216'. 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 (PubMed:16980613). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714).

Gene Wiki entry for MARK3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARK3 Gene

Genomics for MARK3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MARK3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARK3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARK3

Top Transcription factor binding sites by QIAGEN in the MARK3 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC

Genomic Locations for MARK3 Gene

Genomic Locations for MARK3 Gene
chr14:103,385,364-103,503,831
(GRCh38/hg38)
Size:
118,468 bases
Orientation:
Plus strand
chr14:103,851,701-103,970,168
(GRCh37/hg19)
Size:
118,468 bases
Orientation:
Plus strand

Genomic View for MARK3 Gene

Genes around MARK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARK3 Gene

Proteins for MARK3 Gene

  • Protein details for MARK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27448-MARK3_HUMAN
    Recommended name:
    MAP/microtubule affinity-regulating kinase 3
    Protein Accession:
    P27448
    Secondary Accessions:
    • A0A0A0MQR8
    • A0A0A0MST9
    • A0A0A0MT23
    • O60219
    • Q86TT8
    • Q8TB41
    • Q8WX83
    • Q96RG1
    • Q9UMY9
    • Q9UN34

    Protein attributes for MARK3 Gene

    Size:
    753 amino acids
    Molecular mass:
    84429 Da
    Quaternary structure:
    • Interacts with MAPT/TAU (PubMed:23666762). Interacts with DLG5 (via coiled-coil domain). Interacts with STK3/MST2 and STK4/MST1 in the presence of DLG5 (PubMed:28087714). Interacts with YWHAB, YWHAG, YWHAQ and YWHAZ (PubMed:16959763).

    Three dimensional structures from OCA and Proteopedia for MARK3 Gene

    Alternative splice isoforms for MARK3 Gene

neXtProt entry for MARK3 Gene

Selected DME Specific Peptides for MARK3 Gene

P27448:
  • SLQKLFREVRIMK
  • LTGREVA
  • TIGKGNFA
  • GARCRNSIASC
  • GPEVDVWS
  • VQWEMEVCKLPRLSLNGVRFKRISGTS
  • LVAHGRM
  • KIIDKTQL
  • YNGPPASPS
  • RRNTYVC
  • EYASGGE
  • FAKVKLA
  • RPSSDLNNST
  • WSLGVILY
  • IVHRDLKAENLLLDADMNIKI
  • NLKELRERVLRGKYR
  • VAIKIID
  • GEVFDYLV
  • DFGFSNEFT
  • WSLGVILYTLVSGSLPFDG
  • LNHPNIVKLFEVIETEKTLYL
  • GSPPYAAPE
  • LVLNPIKRG
  • DEQPHIGNYRL
  • REIRKVLDAN
  • NHPNIVKL
  • IVHRDLK

Post-translational modifications for MARK3 Gene

  • Phosphorylated at Thr-211 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Phosphorylation at Thr-564 by PRKCZ/aPKC inhibits the kinase activity.
  • Ubiquitination at Lys294
  • Modification sites at PhosphoSitePlus

Domains & Families for MARK3 Gene

Gene Families for MARK3 Gene

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

Protein Domains for MARK3 Gene

InterPro:
Blocks:
  • Ubiquitin-associated domain
  • Kinase-associated, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for MARK3 Gene

GenScript: Design optimal peptide antigens:
  • MAP/microtubule affinity-regulating kinase 3 (A2SY06_HUMAN)
  • Serine/threonine-protein kinase p78 (MARK3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27448

UniProtKB/Swiss-Prot:

MARK3_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
genes like me logo Genes that share domains with MARK3: view

Function for MARK3 Gene

Molecular function for MARK3 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase (PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on 'Ser-216'. 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 (PubMed:16980613). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation on Thr-211. Inhibited by phosphorylation on Thr-564.
GENATLAS Biochemistry:
MAP/microtubule affinity-regulating kinase 3 deleted in pancreas carcinoma

Enzyme Numbers (IUBMB) for MARK3 Gene

Phenotypes From GWAS Catalog for MARK3 Gene

Gene Ontology (GO) - Molecular Function for MARK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,NAS 28386764
GO:0005515 protein binding IPI 9543386
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MARK3: view
genes like me logo Genes that share phenotypes with MARK3: view

Human Phenotype Ontology for MARK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MARK3 Gene

MGI Knock Outs for MARK3:

Animal Model Products

CRISPR Products

miRNA for MARK3 Gene

miRTarBase miRNAs that target MARK3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARK3

Clone Products

  • Addgene plasmids for MARK3

No data available for Transcription Factor Targets and HOMER Transcription for MARK3 Gene

Localization for MARK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARK3 Gene

Cell membrane. Peripheral membrane protein. Cell projection, dendrite. 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 MARK3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
nucleus 4
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MARK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,NAS 9543386
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA,IDA 21145462
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA,IDA 23666762
genes like me logo Genes that share ontologies with MARK3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MARK3 Gene

Pathways & Interactions for MARK3 Gene

PathCards logo

SuperPathways for MARK3 Gene

SuperPathway Contained pathways
1 RET signaling
2 Paradoxical activation of RAF signaling by kinase inactive BRAF
3 MAPK Erk Pathway
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with MARK3: view

Pathways by source for MARK3 Gene

2 Cell Signaling Technology pathways for MARK3 Gene
1 GeneTex pathway for MARK3 Gene

SIGNOR curated interactions for MARK3 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MARK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0006468 protein phosphorylation IEA,IMP 23666762
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IDA 9543386
genes like me logo Genes that share ontologies with MARK3: view

Drugs & Compounds for MARK3 Gene

(3) Drugs for MARK3 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
7-hydroxystaurosporine Experimental, Investigational Pharma inhibitor 22
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for MARK3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with MARK3: view

Transcripts for MARK3 Gene

mRNA/cDNA for MARK3 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARK3

Clone Products

  • Addgene plasmids for MARK3

Alternative Splicing Database (ASD) splice patterns (SP) for MARK3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
SP1: - - -
SP2:
SP3:
SP4: - -
SP5: - - - - - - - - - - - - - - - -
SP6:
SP7: - -
SP8: -
SP9: -
SP10: - -
SP11: - -
SP12:
SP13:
SP14:

ExUns: 18 ^ 19a · 19b ^ 20a · 20b · 20c · 20d · 20e · 20f · 20g
SP1: -
SP2:
SP3:
SP4:
SP5: - - -
SP6:
SP7: - - -
SP8: - -
SP9:
SP10:
SP11: - - -
SP12: - - -
SP13:
SP14:

Relevant External Links for MARK3 Gene

GeneLoc Exon Structure for
MARK3

Expression for MARK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MARK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MARK3 Gene

This gene is overexpressed in Lung (59.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MARK3 Gene



Protein tissue co-expression partners for MARK3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARK3

SOURCE GeneReport for Unigene cluster for MARK3 Gene:

Hs.35828

mRNA Expression by UniProt/SwissProt for MARK3 Gene:

P27448-MARK3_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MARK3 Gene

  • Nervous system(4.5)
  • Blood(4.5)
  • Pancreas(4.4)
  • Lung(3.5)
  • Skin(3.1)
  • Heart(2.8)
  • Muscle(2.6)
  • Kidney(2.6)
  • Intestine(2.5)
  • Stomach(2.3)
  • Liver(2.3)
  • Bone marrow(2.2)
  • Thyroid gland(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with MARK3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MARK3 Gene

Orthologs for MARK3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MARK3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MARK3 30 31
  • 99.55 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MARK3 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MARK3 30 31
  • 92.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MARK3 30 31
  • 91.89 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mark3 30 17 31
  • 90.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mark3 30
  • 88.53 (n)
Oppossum
(Monodelphis domestica)
Mammalia MARK3 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MARK3 30 31
  • 83.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MARK3 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mark3 30
  • 80.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1967 30
Zebrafish
(Danio rerio)
Actinopterygii MARK3 (2 of 3) 31
  • 87 (a)
OneToMany
MARK3 (3 of 3) 31
  • 85 (a)
OneToMany
zgc:153725 30
  • 75.46 (n)
mark3 31
  • 75 (a)
OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta par-1 30 31 32
  • 57.2 (n)
OneToMany
KP78a 32
  • 56 (a)
CG15072 32
  • 45 (a)
KP78b 32
  • 41 (a)
Worm
(Caenorhabditis elegans)
Secernentea par-1 30 31
  • 57.02 (n)
OneToMany
kin-29 32
  • 39 (a)
B0511.4 32
  • 31 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for MARK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 MARK3 Gene

ENSEMBL:
Gene Tree for MARK3 (if available)
TreeFam:
Gene Tree for MARK3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARK3: view image

Paralogs for MARK3 Gene

Paralogs for MARK3 Gene

Pseudogenes.org Pseudogenes for MARK3 Gene

genes like me logo Genes that share paralogs with MARK3: view

Variants for MARK3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARK3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs376395495 Pathogenic: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI. Visual impairment and progressive phthisis bulbi (VIPB) [MIM:618283] 103,491,898(+) C/Gp.Arg570Gly MISSENSE_VARIANT
rs10137161 - p.Ser410Phe
rs56305318 - p.Ser443Gly
VAR_040765 - p.Val429Ala

Additional dbSNP identifiers (rs#s) for MARK3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARK3 Gene

Variant ID Type Subtype PubMed ID
dgv422e214 CNV gain 21293372
esv2676094 CNV deletion 23128226
esv3335724 CNV insertion 20981092
esv3409253 CNV insertion 20981092
esv3635592 CNV gain 21293372
esv3635594 CNV loss 21293372
esv3635595 CNV loss 21293372
nsv1044967 CNV gain 25217958
nsv1054574 CNV loss 25217958
nsv1113676 CNV deletion 24896259
nsv1134407 CNV deletion 24896259
nsv525874 CNV gain 19592680
nsv832883 CNV loss 17160897
nsv85420 CNV deletion 16902084
nsv85551 CNV deletion 16902084
nsv9168 CNV loss 18304495
nsv952258 CNV duplication 24416366
nsv976372 CNV duplication 23825009

Variation tolerance for MARK3 Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARK3 Gene

Human Gene Mutation Database (HGMD)
MARK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARK3 Gene

Disorders for MARK3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MARK3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
visual impairment and progressive phthisis bulbi
  • vipb
brain stem astrocytic neoplasm
  • brainstem astrocytoma
peutz-jeghers syndrome
  • pjs
central hypoventilation syndrome, congenital
  • cchs
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
- elite association - COSMIC cancer census association via MalaCards
Search MARK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MARK3_HUMAN
  • Visual impairment and progressive phthisis bulbi (VIPB) [MIM:618283]: An autosomal recessive, progressive disease characterized by poor vision at birth and development of bilateral phthisis bulbi by adulthood. {ECO:0000269 PubMed:29771303}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MARK3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MARK3: view

No data available for Genatlas for MARK3 Gene

Publications for MARK3 Gene

  1. New role for hPar-1 kinases EMK and C-TAK1 in regulating localization and activity of class IIa histone deacetylases. (PMID: 16980613) Dequiedt F … Kettmann R (Molecular and cellular biology 2006) 3 4 23
  2. Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. (PMID: 29771303) Ansar M … Antonarakis SE (Human molecular genetics 2018) 3 4
  3. DLG5 connects cell polarity and Hippo signaling protein networks by linking PAR-1 with MST1/2. (PMID: 28087714) Kwan J … Vasioukhin V (Genes & development 2016) 3 4
  4. Role of individual MARK isoforms in phosphorylation of tau at Ser²⁶² in Alzheimer's disease. (PMID: 23666762) Gu GJ … Kamali-Moghaddam M (Neuromolecular medicine 2013) 3 4
  5. Kinase associated-1 domains drive MARK/PAR1 kinases to membrane targets by binding acidic phospholipids. (PMID: 21145462) Moravcevic K … Lemmon MA (Cell 2010) 3 4

Products for MARK3 Gene