Gene Gene information from NCBI Gene database.
Entrez ID 22924
Gene name Microtubule associated protein RP/EB family member 3
Gene symbol MAPRE3
Synonyms (NCBI Gene)
EB3EBF3EBF3-SRP3
Chromosome 2
Chromosome location 2p23.3
Summary The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
656
miRTarBase ID miRNA Experiments Reference
MIRT020202 hsa-miR-130b-3p Sequencing 20371350
MIRT028081 hsa-miR-93-5p Sequencing 20371350
MIRT031142 hsa-miR-19b-3p Sequencing 20371350
MIRT088339 hsa-miR-130a-3p PAR-CLIP 20371350
MIRT020202 hsa-miR-130b-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10644998, 16189514, 19146815, 20195357, 21516116, 23572079, 25416956, 25814554, 27107012, 27173435, 29997244, 30668577, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS 17310996
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
605788 6892 ENSG00000084764
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPY8
Protein name Microtubule-associated protein RP/EB family member 3 (EB1 protein family member 3) (EBF3) (End-binding protein 3) (EB3) (RP3)
Protein function Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton (PubMed:19255245, PubMed:28814570). Promotes microtubule growth (PubMed:19255245, PubMed:28814570). May be inv
PDB 1WYO , 3CO1 , 3JAK , 3JAL , 3JAR , 3TQ7 , 7SJ9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 14 120 Calponin homology (CH) domain Domain
PF03271 EB1 219 257 EB1-like C-terminal motif Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain and muscle. {ECO:0000269|PubMed:10644998}.
Sequence
MAVNVYSTSVTSENLSRHDMLAWVNDSLHLNYTKIEQLCSGAAYCQFMDMLFPGCVHLRK
VKFQAKLEHEYIHNFKVLQAAFKKMGVDKIIPVEKLVKGKFQDNFEFIQWFKKFFDANYD

GKDYNPLLARQGQDVAPPPNPGDQIFNKSKKLIGTAVPQRTSPTGPKNMQTSGRLSNVAP
PCILRKNPPSARNGGHETDAQILELNQQLVDLKLTVDGLEKERDFYFSKLRDIELICQEH
ESENSPVISGIIGILYA
TEEGFAPPEDDEIEEHQQEDQDEY
Sequence length 281
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Azoospermia Associate 38403804
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Associate 38403804
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Associate 40665272
★☆☆☆☆
Found in Text Mining only
Ciliary Motility Disorders Associate 16055928
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 28319065
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa Associate 16055928
★☆☆☆☆
Found in Text Mining only