Gene Gene information from NCBI Gene database.
Entrez ID 282973
Gene name Janus kinase and microtubule interacting protein 3
Gene symbol JAKMIP3
Synonyms (NCBI Gene)
C10orf14C10orf39Jamip3NECC2bA140A10.5
Chromosome 10
Chromosome location 10q26.3
miRNA miRNA information provided by mirtarbase database.
586
miRTarBase ID miRNA Experiments Reference
MIRT017302 hsa-miR-335-5p Microarray 18185580
MIRT611605 hsa-miR-8485 HITS-CLIP 19536157
MIRT611604 hsa-miR-329-3p HITS-CLIP 19536157
MIRT611603 hsa-miR-362-3p HITS-CLIP 19536157
MIRT611602 hsa-miR-1228-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus IEA
GO:0008017 Function Microtubule binding IEA
GO:0019900 Function Kinase binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611198 23523 ENSG00000188385
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VZ66
Protein name Janus kinase and microtubule-interacting protein 3 (Neuroendocrine long coiled-coil protein 2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16034 JAKMIP_CC3 429 626 JAKMIP CC3 domain Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in the CNS and endocrine tissues. Also detected in other tissues including heart, testis and prostate. {ECO:0000269|PubMed:17572408}.
Sequence
MSKRGMSSRAKGDKAEALAALQAANEDLRAKLTDIQIELQQEKSKVSKVEREKNQELRQV
REHEQHKTAVLLTELKTKLHEEKMKELQAVRETLLRQHEAELLRVIKIKDNENQRLQALL
SALRDGGPEKVKTVLLSEAKEEAKKGFEVEKVKMQQEISELKGAKRQVEEALTLVIQADK
IKAAEIRSVYHLHQEEITRIKKECEREIRRLMEEIKFKDRAVFVLERELGVQAGHAQRLQ
LQKEALDEQLSQVREADRHPGSPRRELPHAAGAGDASDHSGSPEQQLDEKDARRFQLKIA
ELSAIIRKLEDRNALLSEERNELLKRVREAESQYKPLLDKNKRLSRKNEDLSHALRRMEN
KLKFVTQENIEMRQRAGIIRRPSSLNDLDQSQDEREVDFLKLQIVEQQNLIDELSKTLET
AGYVKSVLERDKLLRFRKQRKKMAKLPKPVVVETFFGYDEEASLESDGSSVSYQTDRTDQ
TPCTPDDDLEEGMAKEETELRFRQLTMEYQALQRAYALLQEQVGGTLDAEREVKTREQLQ
AEVQRAQARIEDLEKALAEQGQDMKWIEEKQALYRRNQELVEKIKQMETEEARLRHEVQD
ARDQNELLEFRILELEERERKSPAIS
FHHTPFVDGKSPLQVYCEAEGVTDIVVAELMKKL
DILGDNANLTNEEQVVVIQARTVLTLAEKWLQQIEETEAALQRKMVDLESEKELFSKQKG
YLDEELDYRKQALDQANKHILELEAMLYDALQQEAGAKVAELLSEEEREKLKVAVEQWKR
QVMSELRERDAQILRERMELLQLAQQRIKELEERIEAQKRQIKELEEKFLFLFLFFSLAF
ILWS
Sequence length 844
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
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
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 30160359
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 29064910
★★☆☆☆
Found in Text Mining + Unknown/Other Associations