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Entry version 143 (05 Jun 2019)
Sequence version 2 (06 Feb 2007)
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Protein

Two pore calcium channel protein 2

Gene

TPCN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca2+ channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.11.19 the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Two pore calcium channel protein 2
Alternative name(s):
Voltage-dependent calcium channel protein TPC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TPCN2
Synonyms:TPC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20820 TPCN2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612163 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NHX9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 84CytoplasmicSequence analysisAdd BLAST84
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei85 – 105Helical; Name=S1 of repeat ISequence analysisAdd BLAST21
Topological domaini106 – 127ExtracellularSequence analysisAdd BLAST22
Transmembranei128 – 148Helical; Name=S2 of repeat ISequence analysisAdd BLAST21
Topological domaini149 – 155CytoplasmicSequence analysis7
Transmembranei156 – 176Helical; Name=S3 of repeat ISequence analysisAdd BLAST21
Topological domaini177 – 183ExtracellularSequence analysis7
Transmembranei184 – 204Helical; Name=S4 of repeat ISequence analysisAdd BLAST21
Topological domaini205 – 218CytoplasmicSequence analysisAdd BLAST14
Transmembranei219 – 239Helical; Name=S5 of repeat ISequence analysisAdd BLAST21
Topological domaini240 – 254ExtracellularSequence analysisAdd BLAST15
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei255 – 279Helical; Pore-formingSequence analysisAdd BLAST25
Topological domaini280 – 289ExtracellularSequence analysis10
Transmembranei290 – 310Helical; Name=S6 of repeat ISequence analysisAdd BLAST21
Topological domaini311 – 436CytoplasmicSequence analysisAdd BLAST126
Transmembranei437 – 459Helical; Name=S1 of repeat IISequence analysisAdd BLAST23
Topological domaini460 – 465ExtracellularSequence analysis6
Transmembranei466 – 486Helical; Name=S2 of repeat IISequence analysisAdd BLAST21
Topological domaini487 – 502CytoplasmicSequence analysisAdd BLAST16
Transmembranei503 – 523Helical; Name=S3 of repeat IISequence analysisAdd BLAST21
Topological domaini524 – 554ExtracellularSequence analysisAdd BLAST31
Transmembranei555 – 575Helical; Name=S4 of repeat IISequence analysisAdd BLAST21
Topological domaini576 – 580CytoplasmicSequence analysis5
Transmembranei581 – 601Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini602 – 635ExtracellularSequence analysisAdd BLAST34
Intramembranei636 – 658Helical; Pore-formingSequence analysisAdd BLAST23
Topological domaini659 – 673ExtracellularSequence analysisAdd BLAST15
Transmembranei674 – 694Helical; Name=S6 of repeat IISequence analysisAdd BLAST21
Topological domaini695 – 752CytoplasmicSequence analysisAdd BLAST58

Keywords - Cellular componenti

Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
219931

MalaCards human disease database

More...
MalaCardsi
TPCN2
MIMi612267 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162341

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134937857

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
393

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TPCN2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
125991221

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002768561 – 752Two pore calcium channel protein 2Add BLAST752

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi611N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi618N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NHX9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NHX9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NHX9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NHX9

PeptideAtlas

More...
PeptideAtlasi
Q8NHX9

PRoteomics IDEntifications database

More...
PRIDEi
Q8NHX9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73782

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NHX9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NHX9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Expressed at high level in liver and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162341 Expressed in 183 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NHX9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NHX9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016561
HPA027080

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity). Interacts with LRRK2 (PubMed:22012985). Interacts with HAX1 (PubMed:24188827).By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
128596, 61 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NHX9, 4 interactors

Molecular INTeraction database

More...
MINTi
Q8NHX9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000294309

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8NHX9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi17 – 20Poly-Gly4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Each of the two internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position (By similarity).By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410INF1 Eukaryota
ENOG4111V21 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159763

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000154668

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NHX9

KEGG Orthology (KO)

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KOi
K14077

Identification of Orthologs from Complete Genome Data

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OMAi
PHPGWRP

Database of Orthologous Groups

More...
OrthoDBi
761764at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NHX9

TreeFam database of animal gene trees

More...
TreeFami
TF328550

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.120.350, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005821 Ion_trans_dom
IPR028798 TPC2
IPR027359 Volt_channel_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR46768 PTHR46768, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00520 Ion_trans, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q8NHX9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEPQAESEP LLGGARGGGG DWPAGLTTYR SIQVGPGAAA RWDLCIDQAV
60 70 80 90 100
VFIEDAIQYR SINHRVDASS MWLYRRYYSN VCQRTLSFTI FLILFLAFIE
110 120 130 140 150
TPSSLTSTAD VRYRAAPWEP PCGLTESVEV LCLLVFAADL SVKGYLFGWA
160 170 180 190 200
HFQKNLWLLG YLVVLVVSLV DWTVSLSLVC HEPLRIRRLL RPFFLLQNSS
210 220 230 240 250
MMKKTLKCIR WSLPEMASVG LLLAIHLCLF TMFGMLLFAG GKQDDGQDRE
260 270 280 290 300
RLTYFQNLPE SLTSLLVLLT TANNPDVMIP AYSKNRAYAI FFIVFTVIGS
310 320 330 340 350
LFLMNLLTAI IYSQFRGYLM KSLQTSLFRR RLGTRAAFEV LSSMVGEGGA
360 370 380 390 400
FPQAVGVKPQ NLLQVLQKVQ LDSSHKQAMM EKVRSYGSVL LSAEEFQKLF
410 420 430 440 450
NELDRSVVKE HPPRPEYQSP FLQSAQFLFG HYYFDYLGNL IALANLVSIC
460 470 480 490 500
VFLVLDADVL PAERDDFILG ILNCVFIVYY LLEMLLKVFA LGLRGYLSYP
510 520 530 540 550
SNVFDGLLTV VLLVLEISTL AVYRLPHPGW RPEMVGLLSL WDMTRMLNML
560 570 580 590 600
IVFRFLRIIP SMKLMAVVAS TVLGLVQNMR AFGGILVVVY YVFAIIGINL
610 620 630 640 650
FRGVIVALPG NSSLAPANGS APCGSFEQLE YWANNFDDFA AALVTLWNLM
660 670 680 690 700
VVNNWQVFLD AYRRYSGPWS KIYFVLWWLV SSVIWVNLFL ALILENFLHK
710 720 730 740 750
WDPRSHLQPL AGTPEATYQM TVELLFRDIL EEPGEDELTE RLSQHPHLWL

CR
Length:752
Mass (Da):85,243
Last modified:February 6, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8A0794952A46C67E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ETX0E7ETX0_HUMAN
Two pore calcium channel protein 2
TPCN2
570Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVQ7A0A1B0GVQ7_HUMAN
Two pore calcium channel protein 2
TPCN2
371Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUM5A0A1B0GUM5_HUMAN
Two pore calcium channel protein 2
TPCN2
698Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTM1A0A1B0GTM1_HUMAN
Two pore calcium channel protein 2
TPCN2
584Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variants in TPCN2 define the skin/hair/eye pigmentation variation locus 10 (SHEP10) [MIMi:612267]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_030492376K → R. Corresponds to variant dbSNP:rs3750965Ensembl.1
Natural variantiVAR_047956484M → L Associated with SHEP10. 1 PublicationCorresponds to variant dbSNP:rs35264875EnsemblClinVar.1
Natural variantiVAR_030493564L → P3 PublicationsCorresponds to variant dbSNP:rs2376558Ensembl.1
Natural variantiVAR_030494734G → E Associated with SHEP10. 4 PublicationsCorresponds to variant dbSNP:rs3829241EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY029200 mRNA Translation: AAK31802.1
AP003071 Genomic DNA No translation available.
BC063008 mRNA Translation: AAH63008.1
AL137479 mRNA Translation: CAB70760.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8189.1

Protein sequence database of the Protein Information Resource

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PIRi
T46421

NCBI Reference Sequences

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RefSeqi
NP_620714.2, NM_139075.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000294309; ENSP00000294309; ENSG00000162341

Database of genes from NCBI RefSeq genomes

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GeneIDi
219931

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:219931

UCSC genome browser

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UCSCi
uc001oos.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

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EMBLi
GenBanki
DDBJi
Links Updated
AY029200 mRNA Translation: AAK31802.1
AP003071 Genomic DNA No translation available.
BC063008 mRNA Translation: AAH63008.1
AL137479 mRNA Translation: CAB70760.1
CCDSiCCDS8189.1
PIRiT46421
RefSeqiNP_620714.2, NM_139075.3

3D structure databases

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6NQ0electron microscopy3.70A/B1-752[»]
6NQ1electron microscopy3.50A/B1-752[»]
6NQ2electron microscopy3.40A/B1-752[»]
SMRiQ8NHX9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128596, 61 interactors
IntActiQ8NHX9, 4 interactors
MINTiQ8NHX9
STRINGi9606.ENSP00000294309

Chemistry databases

GuidetoPHARMACOLOGYi393

Protein family/group databases

TCDBi1.A.1.11.19 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ8NHX9
PhosphoSitePlusiQ8NHX9

Polymorphism and mutation databases

BioMutaiTPCN2
DMDMi125991221

Proteomic databases

EPDiQ8NHX9
jPOSTiQ8NHX9
MaxQBiQ8NHX9
PaxDbiQ8NHX9
PeptideAtlasiQ8NHX9
PRIDEiQ8NHX9
ProteomicsDBi73782

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294309; ENSP00000294309; ENSG00000162341
GeneIDi219931
KEGGihsa:219931
UCSCiuc001oos.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
219931
DisGeNETi219931

GeneCards: human genes, protein and diseases

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GeneCardsi
TPCN2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0019754
HGNCiHGNC:20820 TPCN2
HPAiHPA016561
HPA027080
MalaCardsiTPCN2
MIMi612163 gene
612267 phenotype
neXtProtiNX_Q8NHX9
OpenTargetsiENSG00000162341
PharmGKBiPA134937857

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410INF1 Eukaryota
ENOG4111V21 LUCA
GeneTreeiENSGT00940000159763
HOGENOMiHOG000154668
InParanoidiQ8NHX9
KOiK14077
OMAiPHPGWRP
OrthoDBi761764at2759
PhylomeDBiQ8NHX9
TreeFamiTF328550

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TPCN2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TPCN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
219931

Protein Ontology

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PROi
PR:Q8NHX9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000162341 Expressed in 183 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ8NHX9 baseline and differential
GenevisibleiQ8NHX9 HS

Family and domain databases

Gene3Di1.20.120.350, 2 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR028798 TPC2
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR46768 PTHR46768, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTPC2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NHX9
Secondary accession number(s): Q9NT82
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: June 5, 2019
This is version 143 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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