TPCN2 Gene Summary [Human]
This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | TPCN2 |
| Official Name | two pore segment channel 2 [Source:HGNC Symbol;Acc:HGNC:20820] |
| Ensembl ID | ENSG00000162341 |
| Bio databases IDs | |
| Aliases | two pore segment channel 2 |
| Synonyms | D830047E22Rik, Gm35086, SHEP10, TPC2, Two pore segmant channel 2, two pore segment channel 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TPCN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- Ion transport protein
- calcium channel
- amiloride-sensitive sodium channel
- intracellular ligand-gated ion channel
- protein binding
- identical protein binding
- ion channel
- calcium-release channel
- phosphatidylinositol binding
- voltage-gated calcium channel
- binding protein
- ligand-gated ion channel
- cation channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- neoplasia
- skin neoplasm
- skin neoplasia
- prostatic carcinoma
- prostate cancer
- epithelial cancer
- skin cancer
- epithelial basal cell carcinoma
- Alzheimer disease
regulated by
- JNK
- nicotinate adenine dinucleotide phosphate
- duartin
- naringenin
- pratensein
- p38 MAPK
- phosphatidylinositol 3,5-bisphosphate
role in cell
- production in
- expression in
- number
- autophagy by
- migration
- proliferation
- differentiation
- function
- organization
- release
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- vesicles
- lysosome
- lysosome membrane
- endosomal membrane
- melanosomes
- endolysosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPCN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosome to lysosome transport of low-density lipoprotein particle
- lysosome organization
- response to vitamin D
- ion transmembrane transport
- cellular calcium ion homeostasis
- negative regulation of developmental pigmentation
- viral entry into host cell via receptor-mediated endocytosis
- smooth muscle contraction
- intracellular pH reduction
- regulation of autophagy
- viral entry into host cell via endocytosis
- sodium ion transmembrane transport
- regulation of exocytosis
- release of sequestered calcium ion into cytosol
- calcium-mediated signaling
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- late endosome membrane
- endolysosome membrane
- cytosol
- endosome membrane
- ion channel complex
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- identical protein binding
- protein binding
- NAADP-sensitive calcium-release channel activity
- calcium channel activity
- phosphatidylinositol-3,5-bisphosphate binding
- ligand-gated sodium channel activity
- voltage-gated calcium channel activity
- voltage-gated sodium channel activity