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UniProtKB - O15040 (TCPR2_HUMAN)

Entry version 159 (12 Aug 2020)
Sequence version 4 (30 Nov 2010)
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Protein

Tectonin beta-propeller repeat-containing protein 2

Gene

TECPR2

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

Probably plays a role as positive regulator of autophagy.1 Publication

<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 - Biological processi

Complete GO annotation on QuickGO ...

<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

Biological processAutophagy

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O15040

<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%5Fand%5Ftaxonomy%5Fsection">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:
Tectonin beta-propeller repeat-containing protein 2
Alternative name(s):
WD repeat-containing protein KIAA0329/KIAA0297
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TECPR2
Synonyms:KIAA0297, KIAA0329
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000196663.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:19957, TECPR2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615000, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15040

<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

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 49, autosomal recessive (SPG49)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG49 is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal.
Related information in OMIM

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		9895

MalaCards human disease database

More...MalaCardsi		TECPR2
MIMi615031, phenotype

Open Targets

More...OpenTargetsi		ENSG00000196663

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		320385, Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164726437

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O15040, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TECPR2

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000507471 – 1411Tectonin beta-propeller repeat-containing protein 2Add BLAST1411

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O15040

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O15040

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O15040

MaxQB - The MaxQuant DataBase

More...MaxQBi		O15040

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

More...PaxDbi		O15040

PeptideAtlas

More...PeptideAtlasi		O15040

PRoteomics IDEntifications database

More...PRIDEi		O15040

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		40302
48395 [O15040-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O15040

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

More...PhosphoSitePlusi		O15040

<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

Detected in skin fibroblast (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196663, Expressed in globus pallidus and 213 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O15040, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000196663, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the ATG8 family members GABARAP, GABARAPL1, GABARAPL2, MAP1LC3B and MAP1LC3C.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115224, 11 interactors

Protein interaction database and analysis system

More...IntActi		O15040, 12 interactors

Molecular INTeraction database

More...MINTi		O15040

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000352510

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O15040, protein

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati23 – 66WD 1Add BLAST44
Repeati67 – 114WD 2Add BLAST48
Repeati115 – 161WD 3Add BLAST47
Repeati162 – 203WD 4Add BLAST42
Repeati204 – 265WD 5Add BLAST62
Repeati266 – 309WD 6Add BLAST44
Repeati310 – 343WD 7Add BLAST34
Repeati945 – 976TECPR 1Add BLAST32
Repeati994 – 1027TECPR 2Add BLAST34
Repeati1179 – 1209TECPR 3Add BLAST31
Repeati1226 – 1259TECPR 4Add BLAST34
Repeati1279 – 1310TECPR 5Add BLAST32
Repeati1322 – 1353TECPR 6Add BLAST32

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 biasi462 – 471Poly-Lys10

<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

Belongs to the WD repeat KIAA0329 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3621, Eukaryota
KOG3669, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157283

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005841_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15040

KEGG Orthology (KO)

More...KOi		K23881

Identification of Orthologs from Complete Genome Data

More...OMAi		GCSERVH

Database of Orthologous Groups

More...OrthoDBi		881551at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15040

TreeFam database of animal gene trees

More...TreeFami		TF323607

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006624, Beta-propeller_rpt_TECPR
IPR009091, RCC1/BLIP-II
IPR029772, TECPR2
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR23287:SF16, PTHR23287:SF16, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06462, Hyd_WA, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00706, TECPR, 10 hits
SM00320, WD40, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit
SSF50985, SSF50985, 1 hit

<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%5Flength">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>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O15040-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASISEPVTF REFCPLYYLL NAIPTKIQKG FRSIVVYLTA LDTNGDYIAV 
        60         70         80         90        100
GSSIGMLYLY CRHLNQMRKY NFEGKTESIT VVKLLSCFDD LVAAGTASGR 
       110        120        130        140        150
VAVFQLVSSL PGRNKQLRRF DVTGIHKNSI TALAWSPNGM KLFSGDDKGK 
       160        170        180        190        200
IVYSSLDLDQ GLCNSQLVLE EPSSIVQLDY SQKVLLVSTL QRSLLFYTEE 
       210        220        230        240        250
KSVRQIGTQP RKSTGKFGAC FIPGLCKQSD LTLYASRPGL RLWKADVHGT 
       260        270        280        290        300
VQATFILKDA FAGGVKPFEL HPRLESPNSG SCSLPERHLG LVSCFFQEGW 
       310        320        330        340        350
VLSWNEYSIY LLDTVNQATV AGLEGSGDIV SVSCTENEIF FLKGDRNIIR 
       360        370        380        390        400
ISSRPEGLTS TVRDGLEMSG CSERVHVQQA EKLPGATVSE TRLRGSSMAS 
       410        420        430        440        450
SVASEPRSRS SSLNSTDSGS GLLPPGLQAT PELGKGSQPL SQRFNAISSE 
       460        470        480        490        500
DFDQELVVKP IKVKRKKKKK KTEGGSRSTC HSSLESTPCS EFPGDSPQSL 
       510        520        530        540        550
NTDLLSMTSS VLGSSVDQLS AESPDQESSF NGEVNGVPQE NTDPETFNVL 
       560        570        580        590        600
EVSGSMPDSL AEEDDIRTEM PHCHHAHGRE LLNGAREDVG GSDVTGLGDE 
       610        620        630        640        650
PCPADDGPNS TQLPFQEQDS SPGAHDGEDI QPIGPQSTFC EVPLLNSLTV 
       660        670        680        690        700
PSSLSWAPSA EQWLPGTRAD EGSPVEPSQE QDILTSMEAS GHLSTNLWHA 
       710        720        730        740        750
VTDDDTGQKE IPISERVLGS VGGQLTPVSA LAASTHKPWL EQPPRDQTLT 
       760        770        780        790        800
SSDEEDIYAH GLPSSSSETS VTELGPSCSQ QDLSRLGAED AGLLKPDQFA 
       810        820        830        840        850
ESWMGYSGPG YGILSLVVSE KYIWCLDYKG GLFCSALPGA GLRWQKFEDA 
       860        870        880        890        900
VQQVAVSPSG ALLWKIEQKS NRAFACGKVT IKGKRHWYEA LPQAVFVALS 
       910        920        930        940        950
DDTAWIIRTS GDLYLQTGLS VDRPCARAVK VDCPYPLSQI TARNNVVWAL 
       960        970        980        990       1000
TEQRALLYRE GVSSFCPEGE QWKCDIVSER QALEPVCITL GDQQTLWALD 
      1010       1020       1030       1040       1050
IHGNLWFRTG IISKKPQGDD DHWWQVSITD YVVFDQCSLF QTIIHATHSV 
      1060       1070       1080       1090       1100
ATAAQAPVEK VADKLRMAFW SQQLQCQPSL LGVNNSGVWI SSGKNEFHVA 
      1110       1120       1130       1140       1150
KGSLIGTYWN HVVPRGTASA TKWAFVLASA APTKEGSFLW LCQSSKDLCS 
      1160       1170       1180       1190       1200
VSAQSAQSRP STVQLPPEAE MRAYAACQDA LWALDSLGQV FIRTLSKSCP 
      1210       1220       1230       1240       1250
TGMHWTRLDL SQLGAVKLTS LACGNQHIWA CDSRGGVYFR VGTQPLNPSL 
      1260       1270       1280       1290       1300
MLPAWIMIEP PVQPAGVSLV SVHSSPNDQM LWVLDSRWNV HVRTGITEEM 
      1310       1320       1330       1340       1350
PVGTAWEHVP GLQACQLALS TRTVWARCPN GDLARRYGVT DKNPAGDYWK 
      1360       1370       1380       1390       1400
KIPGSVSCFT VTASDELWAV GPPGYLLQRL TKTFSHSHGT QKSSQAAMPH 
      1410 
PEDLEDEWEV I
Length:1,411
Mass (Da):153,848
Last modified:November 30, 2010 - v4
<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:i7B7C699A614AD547
GO
Isoform 2 (identifier: O15040-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1264-1267: PAGV → VSRS
     1268-1411: Missing.

Show »
Length:1,267
Mass (Da):137,944
Checksum:i062E4192DD8856DC
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA20787 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti60Y → H in AAI42668 (PubMed:15489334).Curated1
Sequence conflicti60Y → H in AAI42716 (PubMed:15489334).Curated1

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_046529320V → I2 PublicationsCorresponds to variant dbSNP:rs1309353EnsemblClinVar.1
Natural variantiVAR_046530386A → T. Corresponds to variant dbSNP:rs11845676EnsemblClinVar.1
Natural variantiVAR_046531439P → S. Corresponds to variant dbSNP:rs2273906EnsemblClinVar.1
Natural variantiVAR_046532683I → V. Corresponds to variant dbSNP:rs10149146EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0447931264 – 1267PAGV → VSRS in isoform 2. 1 Publication4
Alternative sequenceiVSP_0447941268 – 1411Missing in isoform 2. 1 PublicationAdd BLAST144

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB002295 mRNA Translation: BAA20757.1
AB002327 mRNA Translation: BAA20787.2 Different initiation.
AL137229 Genomic DNA No translation available.
AL136293 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81789.1
BC136647 mRNA Translation: AAI36648.1
BC142667 mRNA Translation: AAI42668.1
BC142715 mRNA Translation: AAI42716.1
BC151230 mRNA Translation: AAI51231.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32162.1 [O15040-1]
CCDS58337.1 [O15040-2]

NCBI Reference Sequences

More...RefSeqi		NP_001166102.1, NM_001172631.2 [O15040-2]
NP_055659.2, NM_014844.4 [O15040-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000359520; ENSP00000352510; ENSG00000196663 [O15040-1]
ENST00000558678; ENSP00000453671; ENSG00000196663 [O15040-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9895

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9895

UCSC genome browser

More...UCSCi		uc001ylw.2, human [O15040-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002295 mRNA Translation: BAA20757.1
AB002327 mRNA Translation: BAA20787.2 Different initiation.
AL137229 Genomic DNA No translation available.
AL136293 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81789.1
BC136647 mRNA Translation: AAI36648.1
BC142667 mRNA Translation: AAI42668.1
BC142715 mRNA Translation: AAI42716.1
BC151230 mRNA Translation: AAI51231.1
CCDSiCCDS32162.1 [O15040-1]
CCDS58337.1 [O15040-2]
RefSeqiNP_001166102.1, NM_001172631.2 [O15040-2]
NP_055659.2, NM_014844.4 [O15040-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115224, 11 interactors
IntActiO15040, 12 interactors
MINTiO15040
STRINGi9606.ENSP00000352510

PTM databases

iPTMnetiO15040
PhosphoSitePlusiO15040

Polymorphism and mutation databases

BioMutaiTECPR2

Proteomic databases

EPDiO15040
jPOSTiO15040
MassIVEiO15040
MaxQBiO15040
PaxDbiO15040
PeptideAtlasiO15040
PRIDEiO15040
ProteomicsDBi40302
48395 [O15040-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		64, 33 antibodies

Genome annotation databases

EnsembliENST00000359520; ENSP00000352510; ENSG00000196663 [O15040-1]
ENST00000558678; ENSP00000453671; ENSG00000196663 [O15040-2]
GeneIDi9895
KEGGihsa:9895
UCSCiuc001ylw.2, human [O15040-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9895
DisGeNETi9895
EuPathDBiHostDB:ENSG00000196663.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		TECPR2
HGNCiHGNC:19957, TECPR2
HPAiENSG00000196663, Low tissue specificity
MalaCardsiTECPR2
MIMi615000, gene
615031, phenotype
neXtProtiNX_O15040
OpenTargetsiENSG00000196663
Orphaneti320385, Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
PharmGKBiPA164726437

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...
Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3621, Eukaryota
KOG3669, Eukaryota
GeneTreeiENSGT00940000157283
HOGENOMiCLU_005841_0_0_1
InParanoidiO15040
KOiK23881
OMAiGCSERVH
OrthoDBi881551at2759
PhylomeDBiO15040
TreeFamiTF323607

Enzyme and pathway databases

PathwayCommonsiO15040

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9895, 6 hits in 867 CRISPR screens

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

More...ChiTaRSi		TECPR2, human

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

More...GenomeRNAii		9895
PharosiO15040, Tdark

Protein Ontology

More...PROi		PR:O15040
RNActiO15040, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000196663, Expressed in globus pallidus and 213 other tissues
GenevisibleiO15040, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR006624, Beta-propeller_rpt_TECPR
IPR009091, RCC1/BLIP-II
IPR029772, TECPR2
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR23287:SF16, PTHR23287:SF16, 1 hit
PfamiView protein in Pfam
PF06462, Hyd_WA, 3 hits
SMARTiView protein in SMART
SM00706, TECPR, 10 hits
SM00320, WD40, 3 hits
SUPFAMiSSF50978, SSF50978, 1 hit
SSF50985, SSF50985, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiTCPR2_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: O15040
Secondary accession number(s): A5PKY3
, A6NFY9, A7E2X3, H0YMM9, Q9UEG6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 30, 2010
Last modified: August 12, 2020
This is version 159 of the entry and version 4 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

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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