Seroatlas · Human Serome Atlas

TPCN2

Two pore channel protein 2

Also known as: TPC2, TPC2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8NHX9
Gene
TPCN2
Ensembl
ENSG00000162341
Chromosome
11
Canonical length
752 aa
Protein class
Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Nucleoli
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

752 residues, UniProt reviewed canonical sequence.

>Q8NHX9|TPCN2
     1  MAEPQAESEP LLGGARGGGG DWPAGLTTYR SIQVGPGAAA RWDLCIDQAV VFIEDAIQYR
    61  SINHRVDASS MWLYRRYYSN VCQRTLSFTI FLILFLAFIE TPSSLTSTAD VRYRAAPWEP
   121  PCGLTESVEV LCLLVFAADL SVKGYLFGWA HFQKNLWLLG YLVVLVVSLV DWTVSLSLVC
   181  HEPLRIRRLL RPFFLLQNSS MMKKTLKCIR WSLPEMASVG LLLAIHLCLF TMFGMLLFAG
   241  GKQDDGQDRE RLTYFQNLPE SLTSLLVLLT TANNPDVMIP AYSKNRAYAI FFIVFTVIGS
   301  LFLMNLLTAI IYSQFRGYLM KSLQTSLFRR RLGTRAAFEV LSSMVGEGGA FPQAVGVKPQ
   361  NLLQVLQKVQ LDSSHKQAMM EKVRSYGSVL LSAEEFQKLF NELDRSVVKE HPPRPEYQSP
   421  FLQSAQFLFG HYYFDYLGNL IALANLVSIC VFLVLDADVL PAERDDFILG ILNCVFIVYY
   481  LLEMLLKVFA LGLRGYLSYP SNVFDGLLTV VLLVLEISTL AVYRLPHPGW RPEMVGLLSL
   541  WDMTRMLNML IVFRFLRIIP SMKLMAVVAS TVLGLVQNMR AFGGILVVVY YVFAIIGINL
   601  FRGVIVALPG NSSLAPANGS APCGSFEQLE YWANNFDDFA AALVTLWNLM VVNNWQVFLD
   661  AYRRYSGPWS KIYFVLWWLV SSVIWVNLFL ALILENFLHK WDPRSHLQPL AGTPEATYQM
   721  TVELLFRDIL EEPGEDELTE RLSQHPHLWL CR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TPCN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • liver: 11 nTPM
  • colon: 10 nTPM
  • skin: 9.4 nTPM
  • endometrium: 8.4 nTPM
  • fallopian tube: 8.3 nTPM
  • cervix: 8.2 nTPM

Single-cell type

  • proximal tubule cells: 55 nCPM
  • oligodendrocyte progenitor cells: 48 nCPM
  • podocytes: 41 nCPM
  • astrocytes: 22 nCPM
  • renal connecting tubule cells: 21 nCPM
  • brain excitatory neurons: 20 nCPM

Immune cell

  • non-classical monocyte: 12 nTPM
  • classical monocyte: 10 nTPM
  • intermediate monocyte: 9.9 nTPM
  • myeloid DC: 7.6 nTPM
  • neutrophil: 7.1 nTPM
  • NK-cell: 6.3 nTPM

Brain region

  • cerebellum: 22 nTPM
  • white matter: 19 nTPM
  • cerebral cortex: 18 nTPM
  • basal ganglia: 17 nTPM
  • amygdala: 16 nTPM
  • hypothalamus: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TPCN2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 186 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.69
gnomAD pLI
0
gnomAD missense Z
0.45
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TPCN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TPCN2 as an antibody target. Whether an autoantibody or antibody against TPCN2 could matter depends on whether native TPCN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TPCN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TPCN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TPCN2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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