Gene Gene information from NCBI Gene database.
Entrez ID 10982
Gene name Microtubule associated protein RP/EB family member 2
Gene symbol MAPRE2
Synonyms (NCBI Gene)
CSCSC2EB1EB2RP1
Chromosome 18
Chromosome location 18q12.1-q12.2
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
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs864309717 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs864309718 C>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs864309719 A>G Pathogenic Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs864309720 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1568991852 ACTATGAG>- Likely-pathogenic Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
329
miRTarBase ID miRNA Experiments Reference
MIRT005836 hsa-miR-204-5p Microarray 21282569
MIRT037823 hsa-miR-455-3p CLASH 23622248
MIRT556259 hsa-miR-216a-5p PAR-CLIP 21572407
MIRT117348 hsa-miR-4501 PAR-CLIP 21572407
MIRT556258 hsa-miR-4670-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 27107012, 27173435, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm HDA 16791210
GO:0005737 Component Cytoplasm IEA
GO:0005815 Component Microtubule organizing center IBA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605789 6891 ENSG00000166974
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15555
Protein name Microtubule-associated protein RP/EB family member 2 (APC-binding protein EB2) (End-binding protein 2) (EB2)
Protein function Adapter protein that is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. Therefore, ensures mitotic progression and genome stability (PubMed:27030108). Acts as a central
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 57 163 Calponin homology (CH) domain Domain
PF03271 EB1 261 299 EB1-like C-terminal motif Family
Tissue specificity TISSUE SPECIFICITY: Expressed in different tumor cell lines. Up-regulated in activated B- and T-lymphocytes. {ECO:0000269|PubMed:9233623}.
Sequence
MPGPTQTLSPNGENNNDIIQDNNGTIIPFRKHTVRGERSYSWGMAVNVYSTSITQETMSR
HDIIAWVNDIVSLNYTKVEQLCSGAAYCQFMDMLFPGCISLKKVKFQAKLEHEYIHNFKL
LQASFKRMNVDKVIPVEKLVKGRFQDNLDFIQWFKKFYDANYD
GKEYDPVEARQGQDAIP
PPDPGEQIFNLPKKSHHANSPTAGAAKSSPAAKPGSTPSRPSSAKRASSSGSASKSDKDL
ETQVIQLNEQVHSLKLALEGVEKERDFYFGKLREIELLCQEHGQENDDLVQRLMDILYAS
EEHEGHTEEPEAEEQAHEQQPPQQEEY
Sequence length 327
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental disorder Likely pathogenic; Pathogenic rs864309720 RCV003126592
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin creases, congenital symmetric circumferential, 2 Likely pathogenic; Pathogenic rs2523915654, rs864309717, rs864309718, rs864309719, rs864309720, rs1568991852, rs1603400699 RCV002283747
RCV000203280
RCV000203284
RCV000203276
RCV000203279
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRUGADA SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 9823979
★☆☆☆☆
Found in Text Mining only
Albinism Albinism Pubtator 39596324 Associate
★☆☆☆☆
Found in Text Mining only
Amaurosis congenita of Leber type 1 Leber congenital amaurosis Pubtator 33712029 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 10366101 Stimulate
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 32565670 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 7610041 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26061684 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 37493686 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only