TPCN2 - two pore segment channel 2 Gene

Homo sapiens

Also known as TPC2; SHEP10

Gene ID: 219931 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.