MAPRE2

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

Basic information

Region (hg38): 18:34976928-35143470

Links

ENSG00000166974NCBI:10982OMIM:605789HGNC:6891Uniprot:Q15555AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • skin creases, congenital symmetric circumferential, 2 (Moderate), mode of inheritance: AD
  • multiple benign circumferential skin creases on limbs (Supportive), mode of inheritance: AD
  • skin creases, congenital symmetric circumferential, 2 (Limited), mode of inheritance: Unknown
  • skin creases, congenital symmetric circumferential, 2 (Moderate), mode of inheritance: AD
  • skin creases, congenital symmetric circumferential, 2 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Congenital symmetric circumferential skin creases 2ADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Dermatologic; Neurologic19182162; 21262397; 26637975

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAPRE2 gene.

  • Inborn_genetic_diseases (18 variants)
  • not_provided (15 variants)
  • Skin_creases,_congenital_symmetric_circumferential,_2 (11 variants)
  • not_specified (4 variants)
  • MAPRE2-related_disorder (3 variants)
  • Developmental_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPRE2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014268.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
13
clinvar
3
clinvar
16
missense
2
clinvar
3
clinvar
17
clinvar
3
clinvar
25
nonsense
1
clinvar
1
clinvar
2
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 3 5 17 16 3

Highest pathogenic variant AF is 0.0000013691428

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAPRE2protein_codingprotein_codingENST00000300249 7166543
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8340.166125743031257460.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.19591790.3300.000009072160
Missense in Polyphen1159.8020.18394836
Synonymous0.4086771.40.9390.00000418592
Loss of Function3.41319.10.1570.00000115202

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001230.000123
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000009640.00000879
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

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

Haploinsufficiency Scores

pHI
0.809
hipred
Y
hipred_score
0.825
ghis
0.625

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.939

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mapre2
Phenotype

Zebrafish Information Network

Gene name
mapre2
Affected structure
ceratobranchial cartilage
Phenotype tag
abnormal
Phenotype quality
immature

Gene ontology

Biological process
signal transduction;cell population proliferation;regulation of microtubule polymerization or depolymerization;positive regulation of ARF protein signal transduction;protein localization to microtubule;positive regulation of GTPase activity;spindle assembly;cell division;positive regulation of keratinocyte migration;positive regulation of adherens junction organization;protein localization to microtubule plus-end
Cellular component
cytoplasm;microtubule organizing center;microtubule;cytoplasmic microtubule;focal adhesion;microtubule cytoskeleton;microtubule plus-end;spindle midzone
Molecular function
protein binding;microtubule binding;protein kinase binding;identical protein binding;microtubule plus-end binding