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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MAPRE2
microtubule associated protein RP/EB family member 2
Chromosome 18 Β· 18q12.1-q12.2
NCBI Gene: 10982Ensembl: ENSG00000166974.14HGNC: HGNC:6891UniProt: Q15555
115PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule bindingmicrotubule cytoskeletonidentical protein bindingprotein bindingskin creases, congenital symmetric circumferential, 2multiple benign circumferential skin creases on limbsneurodegenerative diseaseAbnormality of the skeletal system
✦AI Summary

MAPRE2 encodes EB2 (microtubule end-binding protein 2), a critical regulator of microtubule dynamics and cellular organization. The protein stabilizes microtubules and anchors them at centrosomes, ensuring proper mitotic progression and genome stability 1. MAPRE2 plays essential roles in cell migration by regulating focal adhesion dynamics and recruiting HAX1 to microtubules 2. In cardiac physiology, MAPRE2 modulates voltage-gated sodium channel function through microtubule-related trafficking effects on NaV1.5 expression, with knockout models showing decreased conduction velocity and sodium current density characteristic of Brugada syndrome 34. During development, MAPRE2 is crucial for cranial neural crest cell migration, with mutations disrupting focal adhesions and causing craniofacial malformations in CSC-KT syndrome 5. Loss-of-function mutations in MAPRE2 cause congenital symmetric circumferential skin creases type 2 (CSCSC2), characterized by intellectual disability, growth delay, and distinctive skin creases 67. The protein also contributes to cancer progression, with upregulation promoting pancreatic cancer cell invasion and ESCC proliferation through enhanced angiogenesis 89. These diverse functions highlight MAPRE2's fundamental role in microtubule organization across multiple biological processes.

Sources cited
1
MAPRE2 stabilizes microtubules, anchors them at centrosomes, and ensures mitotic progression and genome stability
PMID: 27030108
2
MAPRE2 plays essential role in cell migration and focal adhesion dynamics by recruiting HAX1 to microtubules
PMID: 26527684
3
MAPRE2 knockout leads to decreased ventricular conduction velocity and sodium current density, hallmarks of Brugada syndrome
PMID: 38095085
4
MAPRE2 affects NaV1.5 expression through microtubule-related trafficking mechanisms in Brugada syndrome
PMID: 35210625
5
MAPRE2 mutations alter cranial neural crest migration and focal adhesions, causing craniofacial malformations in CSC-KT syndrome
PMID: 33654163
6
MAPRE2 mutations cause congenital symmetric circumferential skin creases type 2 with intellectual disability and growth delay
PMID: 31903734
7
Homozygous MAPRE2 variants associated with skin folds, growth delay, and multiple congenital anomalies
PMID: 31502381
8
MAPRE2 upregulation promotes pancreatic cancer cell perineural invasion
PMID: 19787265
9
MAPRE2 facilitates ESCC proliferation and angiogenesis
PMID: 36608637
Disease Associationsβ“˜21
skin creases, congenital symmetric circumferential, 2Open Targets
0.71Strong
multiple benign circumferential skin creases on limbsOpen Targets
0.67Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.43Moderate
Brugada syndromeOpen Targets
0.36Weak
developmental disorder of mental healthOpen Targets
0.34Weak
intestinal diseaseOpen Targets
0.30Weak
ovarian dysfunctionOpen Targets
0.30Weak
adolescent idiopathic scoliosisOpen Targets
0.26Weak
liver diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
Skin creases, congenital symmetric circumferential, 2UniProt
Pathogenic Variants7
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys)Pathogenic
Skin creases, congenital symmetric circumferential, 2|Developmental disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 143
NM_014268.4(MAPRE2):c.518G>A (p.Arg173Gln)Likely pathogenic
Skin creases, congenital symmetric circumferential, 2
β˜…β˜†β˜†β˜†2022β†’ Residue 173
NM_014268.4(MAPRE2):c.169_176del (p.Thr57fs)Likely pathogenic
Skin creases, congenital symmetric circumferential, 2
β˜…β˜†β˜†β˜†2018β†’ Residue 57
NM_014268.4(MAPRE2):c.260A>G (p.Tyr87Cys)Pathogenic
Skin creases, congenital symmetric circumferential, 2
β˜†β˜†β˜†β˜†2015β†’ Residue 87
NM_014268.4(MAPRE2):c.454C>T (p.Gln152Ter)Pathogenic
Skin creases, congenital symmetric circumferential, 2
β˜†β˜†β˜†β˜†2015β†’ Residue 152
NM_014268.4(MAPRE2):c.203A>G (p.Asn68Ser)Pathogenic
Skin creases, congenital symmetric circumferential, 2
β˜†β˜†β˜†β˜†2015β†’ Residue 68
NM_014268.4(MAPRE2):c.380G>A (p.Arg127Gln)Likely pathogenic
Skin creases, congenital symmetric circumferential, 2
β˜†β˜†β˜†β˜†β†’ Residue 127
View on ClinVar β†—
Related Genes
RBM15BProtein interaction90%KHKProtein interaction88%CLIP1Protein interaction88%CKAP5Protein interaction88%RAE1Protein interaction81%ZNF24Protein interaction78%
Tissue Expression6 tissues
Heart
100%
Brain
93%
Bone Marrow
24%
Lung
20%
Ovary
17%
Liver
17%
Gene Interaction Network
Click a node to explore
MAPRE2RBM15BKHKCLIP1CKAP5RAE1ZNF24
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q15555
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.31 [0.20–0.49]
RankingsWhere MAPRE2 stands among ~20K protein-coding genes
  • #4,123of 20,598
    Most Researched115 Β· top quartile
  • #3,176of 5,498
    Most Pathogenic Variants7
  • #2,929of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedMAPRE2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The Role of
PMID: 38095085
Circ Res Β· 2024
1.00
2
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
PMID: 35210625
Nat Genet Β· 2022
0.90
3
JUND facilitates proliferation and angiogenesis of esophageal squamous cell carcinoma cell via MAPRE2 up-regulation.
PMID: 36608637
Tissue Cell Β· 2023
0.80
4
MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.
PMID: 33654163
Sci Rep Β· 2021
0.70
5
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.
PMID: 31502381
Am J Med Genet A Β· 2019
0.60