JPT2 (Jupiter microtubule associated homolog 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 90861
Gene name Jupiter microtubule associated homolog 2
Gene symbol JPT2
Synonyms (NCBI Gene)
C16orf34HN1LL11
Chromosome 16
Chromosome location 16p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15094197
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15094197
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 15094197
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619241 14137 ENSG00000206053
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H910
Protein name Jupiter microtubule associated homolog 2 (Hematological and neurological expressed 1-like protein) (HN1-like protein)
Protein function Nicotinic acid adenine dinucleotide phosphate (NAADP) binding protein required for NAADP-evoked intracellular calcium release (PubMed:33758061, PubMed:33758062). Confers NAADP-sensitivity to the two pore channels (TPCs) complex (PubMed:33758061)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17054 JUPITER 2 → 60 Microtubule-Associated protein Jupiter Family
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, kidney, prostate, testis and uterus. {ECO:0000269|PubMed:15094197}.
Sequence 
MFQVPDSEGGRAGSRAMKPPGGESSNLFGSPEEATPSSRPNRMASNIFGPTEEPQNIPKR
TNPPGGKGSGIFDESTPVQTRQHLNPPGGKTSDIFGSPVTATSRLAHPNKPKDHVFLCEG
EEPKSDLKAARSIPAGAEPGEKGSARKAGPAKEQEPMPTVDSHEPRLGPRPRSHNKVLNP
PGGKSSISFY
Sequence length 190
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
SLEEP APNEA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 29249663
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31388936, 33191617 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30778199
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 33471419 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29249663
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29053395, 30778199
★★★★★
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 29053395
★★★★★
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple Negative Breast Neoplasms BEFREE 29249663
★★★★★
★☆☆☆☆
Found in Text Mining only