• Gene id: 219931

Gene Summary

• Gene Symbol: TPCN2   Gene   UCSC   Ensembl
• Aliases: SHEP10, TPC2
• Gene name: two pore segment channel 2
• Alternate names: two pore calcium channel protein 2, voltage-dependent calcium channel protein TPC2,
• Gene location: 11q13.3 (69048931: 69090596)     Exons: 25     NC_000011.10
• Gene summary(Entrez): 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 lyso
• OMIM: 610980

Protein Summary

• Protein general information: Q8NHX9  
  • Name: Two pore calcium channel protein 2 (Voltage dependent calcium channel protein TPC2)
  • Length: 752  
  • Mass: 85243
  • Tissue specificity: Widely expressed. Expressed at high level in liver and kidney. {ECO
• Sequence:

  MAEPQAESEPLLGGARGGGGDWPAGLTTYRSIQVGPGAAARWDLCIDQAVVFIEDAIQYRSINHRVDASSMWLYR
  RYYSNVCQRTLSFTIFLILFLAFIETPSSLTSTADVRYRAAPWEPPCGLTESVEVLCLLVFAADLSVKGYLFGWA
  HFQKNLWLLGYLVVLVVSLVDWTVSLSLVCHEPLRIRRLLRPFFLLQNSSMMKKTLKCIRWSLPEMASVGLLLAI
  HLCLFTMFGMLLFAGGKQDDGQDRERLTYFQNLPESLTSLLVLLTTANNPDVMIPAYSKNRAYAIFFIVFTVIGS
  LFLMNLLTAIIYSQFRGYLMKSLQTSLFRRRLGTRAAFEVLSSMVGEGGAFPQAVGVKPQNLLQVLQKVQLDSSH
  KQAMMEKVRSYGSVLLSAEEFQKLFNELDRSVVKEHPPRPEYQSPFLQSAQFLFGHYYFDYLGNLIALANLVSIC
  VFLVLDADVLPAERDDFILGILNCVFIVYYLLEMLLKVFALGLRGYLSYPSNVFDGLLTVVLLVLEISTLAVYRL
  PHPGWRPEMVGLLSLWDMTRMLNMLIVFRFLRIIPSMKLMAVVASTVLGLVQNMRAFGGILVVVYYVFAIIGINL
  FRGVIVALPGNSSLAPANGSAPCGSFEQLEYWANNFDDFAAALVTLWNLMVVNNWQVFLDAYRRYSGPWSKIYFV
  LWWLVSSVIWVNLFLALILENFLHKWDPRSHLQPLAGTPEATYQMTVELLFRDILEEPGEDELTERLSQHPHLWL
  CR

• Structural information:
  • Interpro: IPR005821  IPR028798  IPR027359  
  • PDB: 6NQ0 6NQ1 6NQ2
  • PDBsum: 6NQ0 6NQ1 6NQ2
  • STRING: ENSP00000294309
• Other Databases: GeneCards:  TPCN2  Malacards:  TPCN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0072345	NAADP-sensitive calcium-release channel activity	IDA	molecular function
GO:0072345	NAADP-sensitive calcium-release channel activity	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0006874	cellular calcium ion homeostasis	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0007040	lysosome organization	IGI	biological process
GO:0010506	regulation of autophagy	IGI	biological process
GO:0019722	calcium-mediated signaling	IGI	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0072345	NAADP-sensitive calcium-release channel activity	IEA	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0006939	smooth muscle contraction	ISS	biological process
GO:0005245	voltage-gated calcium channel activity	ISS	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0072345	NAADP-sensitive calcium-release channel activity	IDA	molecular function
GO:0072345	NAADP-sensitive calcium-release channel activity	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0006874	cellular calcium ion homeostasis	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0007040	lysosome organization	IGI	biological process
GO:0010506	regulation of autophagy	IGI	biological process
GO:0019722	calcium-mediated signaling	IGI	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0072345	NAADP-sensitive calcium-release channel activity	IEA	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0006939	smooth muscle contraction	ISS	biological process
GO:0005245	voltage-gated calcium channel activity	ISS	molecular function
GO:0019901	protein kinase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04972	Pancreatic secretion
P06959	CCKR signaling map

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq