This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] See more...

Aliases for MAP6 Gene

Aliases for MAP6 Gene

  • Microtubule Associated Protein 6 2 3 5
  • Microtubule-Associated Protein 6 3 4
  • Stable Tubule-Only Polypeptide 3 4
  • MAP-6 3 4
  • STOP 3 4
  • CTD-2530H12.7 3
  • KIAA1878 4
  • MAP6-N 3
  • N-STOP 3
  • MTAP6 3

External Ids for MAP6 Gene

Previous GeneCards Identifiers for MAP6 Gene

  • GC06U990078
  • GC11U900013
  • GC11M075536
  • GC11M075040
  • GC11M075024
  • GC11M074975
  • GC11M075297
  • GC11M071595

Summaries for MAP6 Gene

Entrez Gene Summary for MAP6 Gene

  • This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAP6 Gene

MAP6 (Microtubule Associated Protein 6) is a Protein Coding gene. Diseases associated with MAP6 include Schizophrenia and Kabuki Syndrome 1. Gene Ontology (GO) annotations related to this gene include microtubule binding and calmodulin binding. An important paralog of this gene is MAP6D1.

UniProtKB/Swiss-Prot Summary for MAP6 Gene

  • Involved in microtubule stabilization in many cell types, including neuronal cells (By similarity). Specifically has microtubule cold stabilizing activity (By similarity). Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with TMEM106B (PubMed:24357581). Regulates KIF5A-mediated axonal cargo transport (By similarity). Regulates axonal growth during neuron polarization (By similarity).

Gene Wiki entry for MAP6 Gene

Additional gene information for MAP6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAP6 Gene

Genomics for MAP6 Gene

GeneHancer (GH) Regulatory Elements for MAP6 Gene


GeneHancers around MAP6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAP6

Top Transcription factor binding sites by QIAGEN in the MAP6 gene promoter:
  • c-Ets-1
  • c-Myb
  • Elk-1
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Zic3

Genomic Locations for MAP6 Gene

Genomic Locations for MAP6 Gene
chr11:75,586,914-75,669,120
(GRCh38/hg38)
Size:
82,207 bases
Orientation:
Minus strand
chr11:75,297,963-75,380,165
(GRCh37/hg19)
Size:
82,203 bases
Orientation:
Minus strand

Genomic View for MAP6 Gene

Genes around MAP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAP6 Gene

Proteins for MAP6 Gene

  • Protein details for MAP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JE9-MAP6_HUMAN
    Recommended name:
    Microtubule-associated protein 6
    Protein Accession:
    Q96JE9
    Secondary Accessions:
    • A7E2A1
    • Q6P3T0
    • Q6ZWB8

    Protein attributes for MAP6 Gene

    Size:
    813 amino acids
    Molecular mass:
    86505 Da
    Quaternary structure:
    • Interacts with calmodulin (via C-terminus); the interaction is dependent on Ca(2+) (By similarity). Interacts with TMEM106B (PubMed:24357581). Interacts with ZDHHC17 (via ANK repeats) (PubMed:26198635). Interacts with ZDHHC13 (via ANK repeats) (PubMed:26198635).
    SequenceCaution:
    • Sequence=AAH63860.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MAP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAP6 Gene

Post-translational modifications for MAP6 Gene

  • Palmitoylated. Probably depalmitoylated by ABHD17A, ABHD17B and ABHD17C. During neuronal polarization, palmitoylation and depalmitoylation cycles regulate MAP6 shuttling between secretory vesicles and microtubules, and its polarized distribution in the axon.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAP6 Gene

Domains & Families for MAP6 Gene

Gene Families for MAP6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAP6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAP6 Gene

GenScript: Design optimal peptide antigens:
  • Stable tubule-only polypeptide (MAP6_HUMAN)
  • cDNA FLJ41346 fis, clone BRAWH2005315, moderately similar to Neuronal-STOP protein (Q6ZWB8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JE9

UniProtKB/Swiss-Prot:

MAP6_HUMAN :
  • Belongs to the STOP family.
Family:
  • Belongs to the STOP family.
genes like me logo Genes that share domains with MAP6: view

Function for MAP6 Gene

Molecular function for MAP6 Gene

UniProtKB/Swiss-Prot Function:
Involved in microtubule stabilization in many cell types, including neuronal cells (By similarity). Specifically has microtubule cold stabilizing activity (By similarity). Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with TMEM106B (PubMed:24357581). Regulates KIF5A-mediated axonal cargo transport (By similarity). Regulates axonal growth during neuron polarization (By similarity).
GENATLAS Biochemistry:
microtubule associated protein 6 acting on the stability and dynamics of microtubules

Phenotypes From GWAS Catalog for MAP6 Gene

Gene Ontology (GO) - Molecular Function for MAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24357581
GO:0005516 calmodulin binding IEA --
GO:0008017 microtubule binding IBA 21873635
genes like me logo Genes that share ontologies with MAP6: view
genes like me logo Genes that share phenotypes with MAP6: view

Animal Models for MAP6 Gene

MGI Knock Outs for MAP6:

miRNA for MAP6 Gene

miRTarBase miRNAs that target MAP6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAP6 Gene

Localization for MAP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP6 Gene

Cytoplasm, cytoskeleton. Golgi apparatus. Cell projection, axon. Cell projection, dendrite. Cytoplasmic vesicle, secretory vesicle membrane; Lipid-anchor; Cytoplasmic side. Note=Localizes predominantly in the proximal part of the axon (By similarity). Preferentially is concentrated on a portion of the microtubule polymer in which tubulin is modified by detyrosination and acetylation and is also resistant to depolymerization induced by both nocodazole and cold (By similarity). In unpolarized neurons, localizes to the Golgi and to secretory vesicles accumulating transiently at the tips of a subset of neurites (By similarity). Following neuronal polarization and during axon outgrowth, accumulates in the axonal growth cone and subsequently localizes throughout the axon (By similarity). Partially localizes to dendrites in mature neurons (By similarity). Colocalizes with neurofilament (NF)-rich inclusions in spinal chord and brain neurons of patients with amyotrophic lateral sclerosis (ALS) (PubMed:14692697). {ECO:0000250 UniProtKB:Q63560, ECO:0000269 PubMed:14692697}.

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 MAP6 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
golgi apparatus 3
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005798 Golgi-associated vesicle IBA 21873635
GO:0005801 cis-Golgi network IBA 21873635
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with MAP6: view

Pathways & Interactions for MAP6 Gene

PathCards logo

SuperPathways for MAP6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0030705 cytoskeleton-dependent intracellular transport IBA 21873635
GO:0032418 lysosome localization IMP 24357581
GO:0048813 dendrite morphogenesis IMP,IBA 24357581
GO:0050772 positive regulation of axonogenesis IBA 21873635
genes like me logo Genes that share ontologies with MAP6: view

No data available for Pathways by source and SIGNOR curated interactions for MAP6 Gene

Drugs & Compounds for MAP6 Gene

No Compound Related Data Available

Transcripts for MAP6 Gene

mRNA/cDNA for MAP6 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP6 Gene

No ASD Table

Relevant External Links for MAP6 Gene

GeneLoc Exon Structure for
MAP6

Expression for MAP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAP6 Gene

Protein differential expression in normal tissues from HIPED for MAP6 Gene

This gene is overexpressed in Brain (30.9), Frontal cortex (19.7), and Platelet (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAP6 Gene



Protein tissue co-expression partners for MAP6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAP6

SOURCE GeneReport for Unigene cluster for MAP6 Gene:

Hs.585540

mRNA Expression by UniProt/SwissProt for MAP6 Gene:

Q96JE9-MAP6_HUMAN
Tissue specificity: Expressed in brain (at protein level). Expressed in spinal cord. Isoform 2 expression is up-regulated in the prefrontal cortex (Brodmann's area 46) of patients with schizophrenia (postmortem brain study).

Evidence on tissue expression from TISSUES for MAP6 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with MAP6: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP6 Gene

Orthologs for MAP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAP6 31 30
  • 99.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAP6 31 30
  • 84.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAP6 31 30
  • 82.77 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Map6 30
  • 79.24 (n)
mouse
(Mus musculus)
Mammalia Map6 17 31 30
  • 78.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAP6 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAP6 31 30
  • 70.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAP6 31
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii map6a 31 30
  • 64 (n)
OneToMany
MAP6 (1 of 2) 31
  • 48 (a)
OneToMany
Species where no ortholog for MAP6 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAP6 Gene

ENSEMBL:
Gene Tree for MAP6 (if available)
TreeFam:
Gene Tree for MAP6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAP6: view image

Paralogs for MAP6 Gene

Paralogs for MAP6 Gene

genes like me logo Genes that share paralogs with MAP6: view

Variants for MAP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAP6 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
778541 Benign: not provided 75,587,161(-) C/T SYNONYMOUS_VARIANT
782216 Benign: not provided 75,605,876(-) C/T SYNONYMOUS_VARIANT
rs141659980 Likely Benign: not specified 75,587,282(-) C/T MISSENSE_VARIANT
rs12225010 - p.Ile247Met

Additional dbSNP identifiers (rs#s) for MAP6 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAP6 Gene

Variant ID Type Subtype PubMed ID
esv2675287 CNV deletion 23128226
esv2744784 CNV deletion 23290073
esv3626859 CNV loss 21293372
nsv1141164 CNV deletion 24896259

Variation tolerance for MAP6 Gene

Residual Variation Intolerance Score: 51.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAP6 Gene

Human Gene Mutation Database (HGMD)
MAP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP6 Gene

Disorders for MAP6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAP6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
kabuki syndrome 1
  • kms
- elite association - COSMIC cancer census association via MalaCards
Search MAP6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MAP6

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 MAP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAP6 Gene

Publications for MAP6 Gene

  1. Genetic and expression analyses of the STOP (MAP6) gene in schizophrenia. (PMID: 16624526) Shimizu H … Yoshikawa T (Schizophrenia research 2006) 3 4 23 41 54
  2. Assignment of the STOP gene (MAP6) to human chromosome bands 6p12-->p11 by fluorescence in situ hybridization. (PMID: 10516426) Jolly C … Job D (Cytogenetics and cell genetics 1999) 2 3 23 54
  3. Identification of a Novel Sequence Motif Recognized by the Ankyrin Repeat Domain of zDHHC17/13 S-Acyltransferases. (PMID: 26198635) Lemonidis K … Chamberlain LH (The Journal of biological chemistry 2015) 3 4 54
  4. The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes. (PMID: 24357581) Schwenk BM … Edbauer D (The EMBO journal 2014) 3 4 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

Products for MAP6 Gene

Sources for MAP6 Gene