MAPRE2 - microtubule associated protein RP/EB family member 2 Gene

Homo sapiens

Also known as EB1; EB2; RP1; CSCSC2

Gene ID: 10982 | Gene type: protein coding

About MAPRE2

Cytogenetic location: 18q12.1-q12.2 Genomic coordinates (GRCh38): 18:34,977,027-35,143,470 (from NCBI)

This gene has 13 transcripts (splice variants), 216 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 59.8), heart (RPKM 31.4) and 24 other tissues.

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]

MAPRE2 Products(4)

mRNA	Protein	Name
NM_001143826.3	NP_001137298.1	microtubule-associated protein RP/EB family member 2 isoform 2
NM_001143827.3	NP_001137299.1	microtubule-associated protein RP/EB family member 2 isoform 3
NM_001256420.2	NP_001243349.1	microtubule-associated protein RP/EB family member 2 isoform 4
NM_014268.4	NP_055083.1	microtubule-associated protein RP/EB family member 2 isoform 1

MAPRE2 Protein Structure

EB1

0
100
200
300
327 a.a.

Protein Preferred Names

Protein Names

microtubule-associated protein RP/EB family member 2

APC-binding protein EB1

Related Diseases

Diseases

Alias

Skin Creases, Congenital Symmetric Circumferential, 2

CSCSC2	Symmetric Circumferential Skin Creases, Congenital, 2
Congenital Symmetric Circumferential Skin Creases 2

Multiple Benign Circumferential Skin Creases On Limbs

Ccsf	Circumferential Skin Creases, Kunze Type
Congenital Circumferential Skin Folds	Kunze-Riehm Syndrome
Kunze Riehm Syndrome	Michelin Tire Baby Syndrome

Autosomal Dominant Intellectual Developmental Disorder 8

Autosomal Dominant Non-Syndromic Intellectual Disability 8	Mental Retardation, Autosomal Dominant 8
Autosomal Dominant Mental Retardation 8	Mrd8

Skin Creases, Congenital Symmetric Circumferential, 1

Michelin Tire Baby Syndrome	CSCSC1
Skin Creases, Multiple Benign Ring-Shaped, Of Limbs	Circumferential Skin Creases, Kunze Type
Congenital Symmetric Circumferential Skin Creases 1	Circumferential Skin Creases Kunze Type
Symmetric Circumferential Skin Creases, Congenital, 1	Csc-Kt
Multiple Benign Ring-Shaped Skin Creases Of Limbs	Michelin-Tire Baby

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

Vexas Syndrome

VEXAS	Vexas Syndrome, Somatic
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome	Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic

Simultanagnosia

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08138	MAPRE2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MAPRE2	VGNC	VGNC:31233
Macaca mulatta	MAPRE2	VGNC	VGNC:74656
Felis catus	MAPRE2	VGNC	VGNC:68180
Mus musculus	MAPRE2	MGD	MGI:106271
Rattus norvegicus	MAPRE2	RGD	RGD:1590736
Canis familiaris	MAPRE2	VGNC	VGNC:43010

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