Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10982
Gene name Gene Name - the full gene name approved by the HGNC.
Microtubule associated protein RP/EB family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAPRE2
Synonyms (NCBI Gene) Gene synonyms aliases
CSCSC2, EB1, EB2, RP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSCSC2, RP1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.1-q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 27107012, 27173435, 28514442, 31515488, 32296183
GO:0005737 Component Cytoplasm HDA 16791210
GO:0005815 Component Microtubule organizing center IBA 21873635
GO:0005881 Component Cytoplasmic microtubule IBA 21873635
GO:0005925 Component Focal adhesion IDA 25490267
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605789 6891 ENSG00000166974
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Neuroblastoma Localized neuroblastoma rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Multiple Benign Circumferential Skin Creases On Limbs multiple benign circumferential skin creases on limbs GenCC
Brugada Syndrome Brugada Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 23369236
Down Syndrome Associate 29049012
Fetal Diseases Associate 29049012
Methylmalonic Aciduria and Homocystinuria CblF Type Associate 35709987
Michelin tire baby syndrome Associate 31903734
Thakker Donnai syndrome Associate 31903734
Urogenital Abnormalities Associate 37584388
Vitamin D Deficiency Associate 23219444