BLTP2 (bridge-like lipid transfer protein family member 2)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 9703 |
| Gene name | Bridge-like lipid transfer protein family member 2 |
| Gene symbol | BLTP2 |
| Synonyms (NCBI Gene) |
BCOXBCOX1CT101FMP27HobKIAA0100
|
| Chromosome | 17 |
| Chromosome location | 17q11.2 |
|
miRNA
miRNA information provided by mirtarbase database.
196
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
||||||||||||||||||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q14667 | |||||||||||||||||||||||||
| Protein name | Bridge-like lipid transfer protein family member 2 (Antigen MLAA-22) (Breast cancer-overexpressed gene 1 protein) (Protein hobbit homolog) | |||||||||||||||||||||||||
| Protein function | Tube-forming lipid transport protein which binds to phosphatidylinositols and affects phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) distribution. | |||||||||||||||||||||||||
| Family and domains |
Pfam
|
|||||||||||||||||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Expressed in pancreas, placenta and up-regulated in breast carcinoma epithelial cells, ductal in situ carcinoma (DCIS), invasive breast carcinoma (IBC) and metastatic breast carcinoma cells (MET). {ECO:0000269|PubMed:16289875}. | |||||||||||||||||||||||||
| Sequence | ||||||||||||||||||||||||||
| Sequence length | 2235 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
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)
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||