TPCN2 - two pore segment channel 2 Gene

Also Known as TPC2; SHEP10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 219931

About TPCN2

Cytogenetic location: 11q13.3 Genomic coordinates (GRCh38): 11:69,048,932-69,090,597 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues, 26 paralogues and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 3.4), endometrium (RPKM 3.2) and 25 other tissues.

Summary

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]

TPCN2 Products (1)

mRNA	Protein	Name
NM_139075.4	NP_620714.2	two pore channel protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables NAADP-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	23063126	GOA
enables NAADP-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	19387438	GOA
enables calcium channel activity	IDA IDA: Inferred from direct assay	27140606	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	30860481	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21903581	GOA
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	IDA IDA: Inferred from direct assay	23063126	GOA
enables ligand-gated sodium channel activity	IDA IDA: Inferred from direct assay	23063126	GOA
enables phosphatidylinositol-3,5-bisphosphate binding	IDA IDA: Inferred from direct assay	23063126	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21903581	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	22012985	GOA
NOT enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	23063126	GOA
NOT enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	24776928	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium-mediated signaling	IGI IGI: Inferred from genetic interaction	25416817	GOA
involved in endocytosis involved in viral entry into host cell	IMP IMP: Inferred from mutant phenotype	25722412	GOA
involved in intracellular calcium ion homeostasis	IDA IDA: Inferred from direct assay	19387438	GOA
involved in intracellular pH reduction	IDA IDA: Inferred from direct assay	27140606	GOA
involved in lysosome organization	IGI IGI: Inferred from genetic interaction	25416817	GOA
involved in negative regulation of developmental pigmentation	IDA IDA: Inferred from direct assay	27140606	GOA
involved in receptor-mediated endocytosis of virus by host cell	IDA IDA: Inferred from direct assay	32221306	GOA
involved in regulation of autophagy	IGI IGI: Inferred from genetic interaction	22012985	GOA
involved in sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	30860481	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endolysosome membrane	IDA IDA: Inferred from direct assay	32167471	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	19620632	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	19387438	GOA
located in lysosome	IDA IDA: Inferred from direct assay	22012985	GOA
located in melanosome membrane	IDA IDA: Inferred from direct assay	27140606	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TPCN2 Protein Structure

Ion_trans

0
200
400
600
752 a.a.

Protein Preferred Names	Protein Names
two pore channel protein 2	two pore calcium channel protein 2

TPCN2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TPCN2	Q8NHX9	HAX1	Homo sapiens	O00165	Pull Down	24188827
Intra	TPCN2	Q8NHX9	MTOR	Homo sapiens	P42345	Anti Tag CoIP	23394946
Intra	TPCN2	Q8NHX9	TPCN1	Homo sapiens	Q9ULQ1	Anti Tag CoIP	21903581
Intra	TPCN2	Q8NHX9	TPCN1	Homo sapiens	Q9ULQ1	Anti Bait CoIP	21903581
Intra	TPCN2	Q8NHX9	TPCN1	Homo sapiens	Q9ULQ1	FRET	21903581
Intra	TPCN2	Q8NHX9	BMPR1A	Homo sapiens	P36894	Anti Tag CoIP	28514442
Intra	TPCN2	Q8NHX9	B4GALT5	Homo sapiens	O43286	Anti Tag CoIP	33961781
Intra	TPCN2	Q8NHX9	ANKRD27	Homo sapiens	Q96NW4	Anti Tag CoIP	33961781
Intra	TPCN2	Q8NHX9	APPL1	Homo sapiens	Q9UKG1	Anti Tag CoIP	33961781
Intra	TPCN2	Q8NHX9	B4GALT5	Homo sapiens	O43286	Anti Tag CoIP	28514442
Intra	TPCN2	Q8NHX9	AP3B1	Homo sapiens	O00203	Anti Tag CoIP	33961781
Intra	TPCN2	Q8NHX9	ANKRD27	Homo sapiens	Q96NW4	Anti Tag CoIP	28514442
Intra	TPCN2	Q8NHX9	APPL1	Homo sapiens	Q9UKG1	Anti Tag CoIP	28514442
Intra	TPCN2	Q8NHX9	AP3B1	Homo sapiens	O00203	Anti Tag CoIP	28514442
Intra	TPCN2	Q8NHX9	BMPR1A	Homo sapiens	P36894	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Skin/Hair/Eye Pigmentation, Variation In, 10	SHEP10 Skin/Hair/Eye Pigmentation 10, Blond/Brown Hair Pigmentation, Skin/Hair/Eye, Variation In, Type 10
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Mucolipidosis
Deafness, Autosomal Recessive 63	DFNB63 Autosomal Recessive Nonsyndromic Deafness 63 Autosomal Recessive Deafness 63 Deafness, Autosomal Recessive, 63 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 Deafness, Autosomal Recessive, Type 63
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Ebola Hemorrhagic Fever	Ebola Virus Disease Viral Hemorrhagic Fever Hemorrhagic Fever, Ebola Ebola Ehf Ebola Fever Hemorrhagic Fevers, Viral Ebola Haemorrhagic Fever Ebod - [Ebola Disease] Evd - [Ebola Virus Disease] Ebola Virus Haemorrhagic Fever Vhf - [Viral Haemorrhagic Fever] Nos Viral Haemorrhagic Fever, Not Otherwise Specified
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14927	TPCN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TPCN2	RGD	RGD:1311779
Macaca mulatta	TPCN2	VGNC	VGNC:79288
Bos taurus	TPCN2	VGNC	VGNC:36244
Canis familiaris	TPCN2	VGNC	VGNC:47733
Felis catus	TPCN2	VGNC	VGNC:66470
Mus musculus	TPCN2	MGD	MGI:2385297
Others	TPCN2	NCBI