Gene Gene information from NCBI Gene database.
Entrez ID 9832
Gene name Janus kinase and microtubule interacting protein 2
Gene symbol JAKMIP2
Synonyms (NCBI Gene)
JAMIP2NECC1
Chromosome 5
Chromosome location 5q32
Summary The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in mul
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT018139 hsa-miR-335-5p Microarray 18185580
MIRT027136 hsa-miR-103a-3p Sequencing 20371350
MIRT608787 hsa-miR-6867-5p HITS-CLIP 21572407
MIRT608786 hsa-miR-8068 HITS-CLIP 21572407
MIRT608785 hsa-miR-6818-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212, 27107012, 31515488, 32296183
GO:0005794 Component Golgi apparatus IDA
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
611197 29067 ENSG00000176049
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AA8
Protein name Janus kinase and microtubule-interacting protein 2 (CTCL tumor antigen HD-CL-04) (Neuroendocrine long coiled-coil protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16034 JAKMIP_CC3 409 602 JAKMIP CC3 domain Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, moderately expressed in thymus, spleen and lung, and weakly expressed in kidney, liver and peripheral blood lymphocytes. Also expressed in adrenal and pituitary glands, as well as testis. {ECO:0000269|PubMed:
Sequence
MSKKGRNKGEKPEALIVALQAANEDLRTKLTDIQIELHQEKSKVSKLEREKTQEAKRIRE
LEQRKHTVLVTELKAKLHEEKMKELQAVRENLIKQHEQEMSRTVKVRDGEIQRLKSALCA
LRDGSSDKVRTALTIEAREEARKLFDTERLKLLQEIADLKTAKKQVDEALSNMIQADKIK
AGDLRSEHQSHQEAISKIKWESERDIRRLMDEIKAKDRIIFSLEKELETQTGYVQKLQLQ
KEALDEQLFLVKEAECNMSSPKREIPGRAGDGSEHCSSPDLRRNQKRIAELNATIRKLED
RNTLLGDERNELLKRVRETEKQCKPLLERNKCLAKRNDELMVSLQRMEEKLKAVTKENSE
MREKITSHPPLKKLKSLNDLDQANEEQETEFLKLQVIEQQNIIDELTRDREKLIRRRKHR
RSSKPIKRPVLDPFIGYDEDSMDSETSSMASFRTDRTPATPDDDLDESLAAEESELRFRQ
LTKEYQALQRAYALLQEQTGGIIDAEREAKAQEQLQAEVLRYKAKIEDLEATLAQKGQDS
HWVEDKQLFIKRNQELLEKIEKQEAENHRLQQELQDARDQNELLEFRNLELEERERRSPP
FN
LQIHPFSDGVSALQIYCMKEGVKDVNIPDLIKQLDILGDNGNLRNEEQVAIIQASTVL
SLAEKWIQQIEGAEAALHQKMMELESDMEQFCKIKGYLEEELDYRKQALDQAYMRIQELE
ATLYNALQQETVIKFGELLSEKQQEELRTAVEKLRRQMLRKSREYDCQILQERMELLQQA
HQRIRDLEDKTDIQKRQIKDLEEKSNRKHG
Sequence length 810
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM 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
Choriocarcinoma Choriocarcinoma BEFREE 12573257, 14614883
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Complete hydatidiform mole Complete Hydatidiform Mole BEFREE 14614883
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves Disease BEFREE 30796769
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves disease Pubtator 30796769 Associate
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma CTD_human_DG 22842228
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Narcolepsy Narcolepsy GWASDB_DG 19629137
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of esophagus Esophagus Neoplasm BEFREE 18234960
★☆☆☆☆
Found in Text Mining only