GeneBe

MAPRE2

protein-coding

microtubule associated protein RP/EB family member 2, the group of Microtubule associated protein RP/EB family

Gene 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]

MANE transcript

NM_014268.4

Inheritance

AR, AD, SD

ClinVar variants

P:7U:30B:22

Top phenotype

Congenital symmetric circumferential skin creases 2

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr18:34,976,928-35,143,470

External References & Databases

Ensembl (ENSG00000166974)NCBI Gene (10982)OMIM (605789)HGNC:6891GenCCUniProt (Q15555)AlphaFoldClinVar (MAPRE2)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~166.5 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

skin creases, congenital symmetric circumferential, 2DEFINITIVE

Inheritance Pattern: AR

Disease ID:MONDO:0014755

Submitter: G2P

skin creases, congenital symmetric circumferential, 2MODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0014755

Submitter: Ambry Genetics

skin creases, congenital symmetric circumferential, 2MODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0014755

Submitter: G2P

skin creases, congenital symmetric circumferential, 2LIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0014755

Submitter: Labcorp Genetics (formerly Invitae)

skin creases, congenital symmetric circumferential, 2STRONG

Inheritance Pattern: SD

Disease ID:MONDO:0014755

Submitter: PanelApp Australia

multiple benign circumferential skin creases on limbsSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0007990

Submitter: Orphanet

Clinical Genomic Database (CGD)

Congenital symmetric circumferential skin creases 2AD

Manifestation: Craniofacial; Dermatologic; Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 19182162; 21262397; 26637975Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MAPRE2 variants in ClinVar

6 Conditions Cataloged
not providedTotal: 21
Inborn genetic diseasesTotal: 21
Skin creases, congenital symmetric circumferential, 2Total: 12
not specifiedTotal: 12
MAPRE2-related disorderTotal: 3
Developmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014268.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
17
clinvar
2
clinvar
 21
missense
2
clinvar
2
clinvar
26
clinvar
3
clinvar
 33
nonsense
1
clinvar
1
clinvar
1
clinvar
 3
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total343020259

Highest pathogenic variant AF is 0.0000013691428

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_014268.4RefSeqNP_055083.17MANE Select
ENST00000300249.10EnsemblENSP00000300249.47MANE Select
NM_001143826.3RefSeqNP_001137298.16Standard
NM_001143827.3RefSeqNP_001137299.18Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
mapre2Danio rerio

Structure: ceratobranchial cartilage

Quality: immature

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • signal transduction
  • cell population proliferation
  • regulation of microtubule polymerization or depolymerization
  • positive regulation of ARF protein signal transduction
  • protein localization to microtubule

Molecular Function

  • protein binding
  • microtubule binding
  • protein kinase binding
  • identical protein binding
  • microtubule plus-end binding

Cellular Component

  • cytoplasm
  • microtubule organizing center
  • microtubule
  • cytoplasmic microtubule
  • focal adhesion

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000300249
Coding exons
7
Length
166543
Individuals with no LoFs
125743
Homozygous LoFs
0
Heterozygous LoFs
3
Defined
125746
p
0.0000119
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense3.19591790.3300.000009072160
Missense (PolyPhen)1159.8020.18394836
Synonymous0.4086771.40.9390.00000418592
Loss of Function3.41319.10.1570.00000115202

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000120.00012rare
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)0.00000960.0000088rare
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
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). {ECO:0000250}.;
Disease
DISEASE: 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.;

Recessive Scores

pRec
0.125

Intolerance Scores

LoFtool
0.0882
RVIS EVS
-0.21
RVIS percentile EVS
38.28

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.939

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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