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Entry version 111 (17 Jun 2020)
Sequence version 1 (01 Oct 2002)
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Protein

Transmembrane protein 252

Gene

TMEM252

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

Annotation score:2 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 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:
Transmembrane protein 252
<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:TMEM252
Synonyms:C9orf71
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000181778.4

Human Gene Nomenclature Database

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HGNCi
HGNC:28537 TMEM252

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6L7

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21

<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>Keywords - Cellular componenti

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

Open Targets

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OpenTargetsi
ENSG00000181778

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134989660

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N6L7 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMEM252

Domain mapping of disease mutations (DMDM)

More...
DMDMi
68565213

<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_00000897071 – 170Transmembrane protein 252Add BLAST170

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N6L7

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

More...
PaxDbi
Q8N6L7

PeptideAtlas

More...
PeptideAtlasi
Q8N6L7

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6L7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72190

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6L7

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

More...
PhosphoSitePlusi
Q8N6L7

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000181778 Expressed in muscle layer of sigmoid colon and 91 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6L7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000181778 Group enriched (intestine, kidney)

<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%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="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)

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BioGRIDi
127986, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6L7, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000366528

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6L7 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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IZEX Eukaryota
ENOG410Y4VR LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005250

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_117690_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6L7

Identification of Orthologs from Complete Genome Data

More...
OMAi
LYTEMGL

Database of Orthologous Groups

More...
OrthoDBi
1607376at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6L7

TreeFam database of animal gene trees

More...
TreeFami
TF337811

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031363 TMEM252

The PANTHER Classification System

More...
PANTHERi
PTHR35682 PTHR35682, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15664 TMEM252, 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>Sequencei

<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.

Q8N6L7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQNRTGLILC ALALLMGFLM VCLGAFFISW GSIFDCQGSL IAAYLLLPLG
60 70 80 90 100
FVILLSGIFW SNYRQVTESK GVLRHMLRQH LAHGALPVAT VDRPDFYPPA
110 120 130 140 150
YEESLEVEKQ SCPAEREASG IPPPLYTETG LEFQDGNDSH PEAPPSYRES
160 170
IAGLVVTAIS EDAQRRGQEC
Length:170
Mass (Da):18,703
Last modified:October 1, 2002 - v1
<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:i403EC6D115C29B1C
GO

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AL353616 Genomic DNA No translation available.
BC029780 mRNA Translation: AAH29780.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35040.1

NCBI Reference Sequences

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RefSeqi
NP_694969.1, NM_153237.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000377311; ENSP00000366528; ENSG00000181778

Database of genes from NCBI RefSeq genomes

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GeneIDi
169693

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:169693

UCSC genome browser

More...
UCSCi
uc004agt.4 human

<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
AL353616 Genomic DNA No translation available.
BC029780 mRNA Translation: AAH29780.1
CCDSiCCDS35040.1
RefSeqiNP_694969.1, NM_153237.1

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

BioGRIDi127986, 2 interactors
IntActiQ8N6L7, 6 interactors
STRINGi9606.ENSP00000366528

PTM databases

iPTMnetiQ8N6L7
PhosphoSitePlusiQ8N6L7

Polymorphism and mutation databases

BioMutaiTMEM252
DMDMi68565213

Proteomic databases

MassIVEiQ8N6L7
PaxDbiQ8N6L7
PeptideAtlasiQ8N6L7
PRIDEiQ8N6L7
ProteomicsDBi72190

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
51987 38 antibodies

The DNASU plasmid repository

More...
DNASUi
169693

Genome annotation databases

EnsembliENST00000377311; ENSP00000366528; ENSG00000181778
GeneIDi169693
KEGGihsa:169693
UCSCiuc004agt.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
169693
EuPathDBiHostDB:ENSG00000181778.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMEM252
HGNCiHGNC:28537 TMEM252
HPAiENSG00000181778 Group enriched (intestine, kidney)
neXtProtiNX_Q8N6L7
OpenTargetsiENSG00000181778
PharmGKBiPA134989660

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IZEX Eukaryota
ENOG410Y4VR LUCA
GeneTreeiENSGT00390000005250
HOGENOMiCLU_117690_0_0_1
InParanoidiQ8N6L7
OMAiLYTEMGL
OrthoDBi1607376at2759
PhylomeDBiQ8N6L7
TreeFamiTF337811

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
169693 0 hits in 784 CRISPR screens

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

More...
GenomeRNAii
169693
PharosiQ8N6L7 Tdark

Protein Ontology

More...
PROi
PR:Q8N6L7
RNActiQ8N6L7 protein

Gene expression databases

BgeeiENSG00000181778 Expressed in muscle layer of sigmoid colon and 91 other tissues
GenevisibleiQ8N6L7 HS

Family and domain databases

InterProiView protein in InterPro
IPR031363 TMEM252
PANTHERiPTHR35682 PTHR35682, 1 hit
PfamiView protein in Pfam
PF15664 TMEM252, 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 nameiTM252_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: Q8N6L7
<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: July 5, 2005
Last sequence update: October 1, 2002
Last modified: June 17, 2020
This is version 111 of the entry and version 1 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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