MAPRE2 microtubule associated protein RP/EB family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAPRE2provided by HGNC
Official Full Name: microtubule associated protein RP/EB family member 2provided by HGNC
Primary source: HGNC:HGNC:6891
See related: Ensembl:ENSG00000166974 MIM:605789; AllianceGenome:HGNC:6891
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EB1; EB2; RP1; CSCSC2
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 59.8), heart (RPKM 31.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q12.1-q12.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (34977027..35143470)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (35168660..35334791)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (32556991..32723434)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction.
Title: The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction.
JUND facilitates proliferation and angiogenesis of esophageal squamous cell carcinoma cell via MAPRE2 up-regulation.
Title: JUND facilitates proliferation and angiogenesis of esophageal squamous cell carcinoma cell via MAPRE2 up-regulation.
CircAGFG1 acts as a sponge of miR-4306 to stimulate esophageal cancer progression by modulating MAPRE2 expression.
Title: CircAGFG1 acts as a sponge of miR-4306 to stimulate esophageal cancer progression by modulating MAPRE2 expression.
MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.
Title: MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.
Aurora B and CDK1 temporally regulate the binding affinity of EB2 for microtubules, thereby ensuring kinetochore microtubule dynamics, proper mitotic progression and genome stability.
Title: Phosphorylation of EB2 by Aurora B and CDK1 ensures mitotic progression and genome stability.
Mutations in either TUBB or MAPRE2 cause circumferential skin creases Kunze type.
Title: Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
EB2 is evidently important for initial microtubule reorganisation during epithelial polarisation, whereas its downregulation facilitates EB1 and ACF7 microtubule lattice association, microtubule-actin filament co-alignment and bundle formation.
Title: The microtubule end-binding protein EB2 is a central regulator of microtubule reorganisation in apico-basal epithelial differentiation.
results suggest that EB1 and ClipCG12 act cooperatively to regulate microtubule dynamics (EB1)
Title: Cooperative stabilization of microtubule dynamics by EB1 and CLIP-170 involves displacement of stably bound P(i) at microtubule ends.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
heterodimer formation between EB1 and EB3, but not between EB2 and the other two EBs, occurs both in vitro and in cells as revealed by live cell imaging
Title: Molecular insights into mammalian end-binding protein heterodimerization.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Skin creases, congenital symmetric circumferential, 2 MedGen: C4225225 OMIM: 616734 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18S1305 (e-PCR)
- UniSTS:2064

D18S960 (e-PCR)
- UniSTS:53787

D18S1139 (e-PCR), detects polymorphism
- UniSTS:15914

D18S995 (e-PCR)
- UniSTS:63796

RH123121 (e-PCR)
- UniSTS:135502

G18017 (e-PCR)
- UniSTS:25975

RH36306 (e-PCR)
- UniSTS:91021

D18S1232 (e-PCR)
- UniSTS:9871

RH12114 (e-PCR)
- UniSTS:89794

SHGC-63455 (e-PCR)
- UniSTS:54724

RH119849 (e-PCR)
- UniSTS:133594

MAPRE2_365 (e-PCR)
- UniSTS:277478

D18S912E (e-PCR)
- UniSTS:150515

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule plus-end binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ARF protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of focal adhesion disassembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of keratinocyte migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein localization to microtubule	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microtubule polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	HDA more info	PubMed
is_active_in cytoplasmic microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
is_active_in spindle midzone	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: microtubule-associated protein RP/EB family member 2

Names: APC-binding protein EB1; APC-binding protein EB2; T-cell activation protein, EB1 family; end-binding protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047123.1 RefSeqGene

Range

69486..171543

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001143826.3 → NP_001137298.1 microtubule-associated protein RP/EB family member 2 isoform 2

See identical proteins and their annotated locations for NP_001137298.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC015967, BC007318, BM673789, DC341673

Consensus CDS

CCDS45851.1

UniProtKB/Swiss-Prot

Q15555

Related

ENSP00000396074.1, ENST00000413393.5

Conserved Domains (3) summary

pfam00307
Location:16 → 100

CH; Calponin homology (CH) domain

pfam03271
Location:219 → 256

EB1; EB1-like C-terminal motif

cl01709
Location:74 → 131

PBP2_NikA_DppA_OppA_like; The substrate-binding domain of an ABC-type nickel/oligopeptide-like import system contains the type 2 periplasmic binding fold
NM_001143827.3 → NP_001137299.1 microtubule-associated protein RP/EB family member 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC015967, AK294833, BM673789

Consensus CDS

CCDS45850.1

UniProtKB/Swiss-Prot

Q15555

Related

ENSP00000407723.1, ENST00000436190.6

Conserved Domains (3) summary

pfam00307
Location:47 → 131

CH; Calponin homology (CH) domain

pfam03271
Location:250 → 287

EB1; EB1-like C-terminal motif

cl01709
Location:105 → 162

PBP2_NikA_DppA_OppA_like; The substrate-binding domain of an ABC-type nickel/oligopeptide-like import system contains the type 2 periplasmic binding fold
NM_001256420.2 → NP_001243349.1 microtubule-associated protein RP/EB family member 2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC015967, AK090945, BM673789

Consensus CDS

CCDS58619.1

UniProtKB/Swiss-Prot

Q15555

Related

ENSP00000446343.1, ENST00000538170.6

Conserved Domains (3) summary

pfam00307
Location:30 → 90

CH; Calponin homology (CH) domain

pfam03271
Location:209 → 246

EB1; EB1-like C-terminal motif

cl01709
Location:64 → 121

PBP2_NikA_DppA_OppA_like; The substrate-binding domain of an ABC-type nickel/oligopeptide-like import system contains the type 2 periplasmic binding fold
NM_014268.4 → NP_055083.1 microtubule-associated protein RP/EB family member 2 isoform 1

See identical proteins and their annotated locations for NP_055083.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC015967, BC007318, BM673789, DC354326

Consensus CDS

CCDS11910.1

UniProtKB/Swiss-Prot

B2RE21, B3KR39, B4DJV4, B7Z2L3, E9PHR3, F5H1V8, G5E9I6, Q15555, Q9UQ33

Related

ENSP00000300249.4, ENST00000300249.10

Conserved Domains (1) summary

COG5217
Location:59 → 313

BIM1; Microtubule-binding protein involved in cell cycle control [Cell division and chromosome partitioning / Cytoskeleton]

RNA

NR_046177.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the primary ORF, as found in variant 2. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC015967, AK296251, BM673789