The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of... See more...

Aliases for MAPRE2 Gene

Aliases for MAPRE2 Gene

  • Microtubule Associated Protein RP/EB Family Member 2 2 3 5
  • Microtubule-Associated Protein RP/EB Family Member 2 3 4
  • APC-Binding Protein EB1 2 3
  • APC-Binding Protein EB2 3 4
  • End-Binding Protein 2 3 4
  • EB2 3 4
  • RP1 3 4
  • T-Cell Activation Protein, EB1 Family 3
  • CSCSC2 3
  • EB1 3

External Ids for MAPRE2 Gene

Previous GeneCards Identifiers for MAPRE2 Gene

  • GC18P032655
  • GC18P032440
  • GC18P030873
  • GC18P030875
  • GC18P029416
  • GC18P032556

Summaries for MAPRE2 Gene

Entrez Gene Summary for MAPRE2 Gene

  • The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

GeneCards Summary for MAPRE2 Gene

MAPRE2 (Microtubule Associated Protein RP/EB Family Member 2) is a Protein Coding gene. Diseases associated with MAPRE2 include Skin Creases, Congenital Symmetric Circumferential, 2 and Multiple Benign Circumferential Skin Creases On Limbs. Among its related pathways are Remodeling of Adherens Junctions and PAK Pathway. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is MAPRE3.

UniProtKB/Swiss-Prot Summary for MAPRE2 Gene

  • May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity).

Gene Wiki entry for MAPRE2 Gene

Additional gene information for MAPRE2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAPRE2 Gene

Genomics for MAPRE2 Gene

GeneHancer (GH) Regulatory Elements for MAPRE2 Gene

Promoters and enhancers for MAPRE2 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 MAPRE2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAPRE2 gene promoter:
  • AREB6
  • ATF6
  • Chx10
  • CUTL1
  • HEN1
  • NF-1

Genomic Locations for MAPRE2 Gene

Genomic Locations for MAPRE2 Gene
chr18:34,976,928-35,143,470
(GRCh38/hg38)
Size:
166,543 bases
Orientation:
Plus strand
chr18:32,556,892-32,723,434
(GRCh37/hg19)
Size:
166,543 bases
Orientation:
Plus strand

Genomic View for MAPRE2 Gene

Genes around MAPRE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAPRE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAPRE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAPRE2 Gene

Proteins for MAPRE2 Gene

  • Protein details for MAPRE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15555-MARE2_HUMAN
    Recommended name:
    Microtubule-associated protein RP/EB family member 2
    Protein Accession:
    Q15555
    Secondary Accessions:
    • B2RE21
    • B3KR39
    • B4DJV4
    • B7Z2L3
    • E9PHR3
    • F5H1V8
    • G5E9I6
    • Q9UQ33

    Protein attributes for MAPRE2 Gene

    Size:
    327 amino acids
    Molecular mass:
    37031 Da
    Quaternary structure:
    • Interacts with DCTN1 (PubMed:14514668). Interacts with APC (via C-terminal) (PubMed:9233623, PubMed:14514668). Interacts with monomeric and polymerized tubulin (PubMed:10188731, PubMed:14514668, PubMed:26637975). Interacts with SLAIN1 (PubMed:21646404).
    SequenceCaution:
    • Sequence=BAA83375.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MAPRE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAPRE2 Gene

Post-translational modifications for MAPRE2 Gene

  • Ubiquitination at Lys156 and Lys165
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for MAPRE2
  • Santa Cruz Biotechnology (SCBT) Antibodies for MAPRE2

No data available for DME Specific Peptides for MAPRE2 Gene

Domains & Families for MAPRE2 Gene

Gene Families for MAPRE2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MAPRE2 Gene

GenScript: Design optimal peptide antigens:
  • End-binding protein 2 (MARE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15555

UniProtKB/Swiss-Prot:

MARE2_HUMAN :
  • Composed of two functionally independent domains. The N-terminal domain forms a hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1.
  • Belongs to the MAPRE family.
Domain:
  • Composed of two functionally independent domains. The N-terminal domain forms a hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1.
Family:
  • Belongs to the MAPRE family.
genes like me logo Genes that share domains with MAPRE2: view

Function for MAPRE2 Gene

Molecular function for MAPRE2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity).
GENATLAS Biochemistry:
microtubule-associated protein,RP/EB family,member 2,highly homolog to MAPRE1,APC binding gene family,differentially expressed in activated T cells,putatively belonging to the immediate/early gene family,which controls the signal transduction cascade downstream of the TCR,may be involved in the tumorigenesis of colorectal cancers but may also play a role in the proliferative control of normal cells

Phenotypes From GWAS Catalog for MAPRE2 Gene

Gene Ontology (GO) - Molecular Function for MAPRE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008017 microtubule binding IDA 25490267
GO:0019901 protein kinase binding IEA --
GO:0042802 identical protein binding IPI 16189514
GO:0051010 microtubule plus-end binding IBA 21873635
genes like me logo Genes that share ontologies with MAPRE2: view
genes like me logo Genes that share phenotypes with MAPRE2: view

Human Phenotype Ontology for MAPRE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAPRE2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MAPRE2 Gene

Localization for MAPRE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAPRE2 Gene

Cytoplasm, cytoskeleton. Note=Associated with the microtubule network. Accumulates at the plus end of microtubules.

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 MAPRE2 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAPRE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm HDA,IEA 16791210
GO:0005815 microtubule organizing center IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IBA 21873635
GO:0005881 cytoplasmic microtubule IBA 21873635
genes like me logo Genes that share ontologies with MAPRE2: view

Pathways & Interactions for MAPRE2 Gene

PathCards logo

SuperPathways for MAPRE2 Gene

SuperPathway Contained pathways
1 PAK Pathway
.36
2 Remodeling of Adherens Junctions
-
genes like me logo Genes that share pathways with MAPRE2: view

Pathways by source for MAPRE2 Gene

2 Qiagen pathways for MAPRE2 Gene
  • Epithelial Adherens Junctions
  • Remodeling of Adherens Junctions

Gene Ontology (GO) - Biological Process for MAPRE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0031110 regulation of microtubule polymerization or depolymerization IBA 21873635
GO:0032014 positive regulation of ARF protein signal transduction ISS 25490267
GO:0035372 protein localization to microtubule IBA 21873635
GO:0043547 positive regulation of GTPase activity ISS 25490267
genes like me logo Genes that share ontologies with MAPRE2: view

No data available for SIGNOR curated interactions for MAPRE2 Gene

Drugs & Compounds for MAPRE2 Gene

No Compound Related Data Available

Transcripts for MAPRE2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAPRE2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAPRE2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: -
SP2: - -
SP3:

Relevant External Links for MAPRE2 Gene

GeneLoc Exon Structure for
MAPRE2
ECgene alternative splicing isoforms for
MAPRE2

Expression for MAPRE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAPRE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAPRE2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.0), Platelet (11.5), and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAPRE2 Gene



Protein tissue co-expression partners for MAPRE2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAPRE2 Gene:

MAPRE2

SOURCE GeneReport for Unigene cluster for MAPRE2 Gene:

Hs.532824

mRNA Expression by UniProt/SwissProt for MAPRE2 Gene:

Q15555-MARE2_HUMAN
Tissue specificity: Expressed in different tumor cell lines. Up-regulated in activated B- and T-lymphocytes.

Evidence on tissue expression from TISSUES for MAPRE2 Gene

  • Nervous system(5)
  • Blood(4.3)
genes like me logo Genes that share expression patterns with MAPRE2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAPRE2 Gene

Orthologs for MAPRE2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAPRE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAPRE2 33 32
  • 99.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAPRE2 33
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mapre2 33
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAPRE2 33
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAPRE2 33
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAPRE2 33 32
  • 93.25 (n)
OneToOne
chicken
(Gallus gallus)
Aves MAPRE2 33 32
  • 86.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAPRE2 33
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia mapre2-A 32
zebrafish
(Danio rerio)
Actinopterygii MAPRE2 33
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.999 32
fruit fly
(Drosophila melanogaster)
Insecta Eb1 33 34
  • 46 (a)
OneToMany
CG18190 34
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea Y59A8B.7 34
  • 46 (a)
ebp-1 33
  • 36 (a)
ManyToMany
VW02B12L.3 34
  • 34 (a)
ebp-3 33
  • 22 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BIM1 33
  • 25 (a)
OneToMany
Species where no ortholog for MAPRE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for MAPRE2 Gene

ENSEMBL:
Gene Tree for MAPRE2 (if available)
TreeFam:
Gene Tree for MAPRE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAPRE2: view image

Paralogs for MAPRE2 Gene

Paralogs for MAPRE2 Gene

(2) SIMAP similar genes for MAPRE2 Gene using alignment to 6 proteins:

  • MARE2_HUMAN
  • G5E9I6_HUMAN
  • K7EL66_HUMAN
  • K7ENB3_HUMAN
  • K7ERD8_HUMAN
  • M0QX52_HUMAN
genes like me logo Genes that share paralogs with MAPRE2: view

Variants for MAPRE2 Gene

Sequence variations from dbSNP and Humsavar for MAPRE2 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1568991852 likely-pathogenic, Skin creases, congenital symmetric circumferential, 2 35,070,238(+) GAGACTATGAG/GAG coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant
rs864309717 pathogenic, Skin creases, congenital symmetric circumferential, 2, Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734] 35,097,455(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs864309718 pathogenic, Skin creases, congenital symmetric circumferential, 2 35,102,003(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs864309719 pathogenic, Skin creases, congenital symmetric circumferential, 2, Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734] 35,070,275(+) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs864309720 pathogenic, Skin creases, congenital symmetric circumferential, 2, Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734] 35,101,976(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MAPRE2 Gene

Variant ID Type Subtype PubMed ID
dgv1575n106 CNV deletion 24896259
esv2362277 CNV deletion 18987734
esv2458354 CNV deletion 19546169
esv2676768 CNV deletion 23128226
esv2716954 CNV deletion 23290073
esv3555218 CNV deletion 23714750
esv3642193 CNV gain 21293372
esv3642194 CNV loss 21293372
esv7024 CNV loss 19470904
nsv1071454 CNV deletion 25765185
nsv132225 CNV deletion 16902084
nsv516682 CNV loss 19592680
nsv953530 CNV duplication 24416366
nsv954954 CNV deletion 24416366

Variation tolerance for MAPRE2 Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAPRE2 Gene

Human Gene Mutation Database (HGMD)
MAPRE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAPRE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAPRE2 Gene

Disorders for MAPRE2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MAPRE2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MARE2_HUMAN
  • Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734]: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. {ECO:0000269 PubMed:26637975}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAPRE2

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 MAPRE2: view

No data available for Genatlas for MAPRE2 Gene

Publications for MAPRE2 Gene

  1. RP1, a new member of the adenomatous polyposis coli-binding EB1-like gene family, is differentially expressed in activated T cells. (PMID: 9233623) Renner C … Pfreundschuh M (Journal of immunology (Baltimore, Md. : 1950) 1997) 2 3 4 23 56
  2. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. (PMID: 26637975) Isrie M … Van Esch H (American journal of human genetics 2015) 3 4 56
  3. 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 43 56
  4. Molecular insights into mammalian end-binding protein heterodimerization. (PMID: 20008324) De Groot CO … Steinmetz MO (The Journal of biological chemistry 2010) 3 23 56
  5. Interactions between EB1 and microtubules: dramatic effect of affinity tags and evidence for cooperative behavior. (PMID: 19778897) Zhu ZC … Goodson HV (The Journal of biological chemistry 2009) 3 23 56

Products for MAPRE2 Gene

Sources for MAPRE2 Gene