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Entry version 129 (22 Apr 2020)
Sequence version 3 (21 Mar 2012)
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Protein

Transmembrane protein 216

Gene

TMEM216

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

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.1 Publication

Miscellaneous

TMEM138 and TMEM216 genes are adjacent and are aligned in a head-to-tail configuration. They share some cis regulatory region and display coordinated expression. Genes were joined by chromosomal rearrangement at the amphiboan to reptile evolutionary transition around 340 million years ago (PubMed:22282472).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

<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 processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

<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 216
<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:TMEM216
ORF Names:HSPC244
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25018 TMEM216

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613277 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P0N5

<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%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>Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Transmembranei56 – 76HelicalSequence analysisAdd BLAST21
Transmembranei89 – 109HelicalSequence analysisAdd BLAST21
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, 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

<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

Joubert syndrome 2 (JBTS2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Related information in OMIM
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_06402873R → C in JBTS2. 2 PublicationsCorresponds to variant dbSNP:rs779526456EnsemblClinVar.1
Natural variantiVAR_06402973R → H in JBTS2 and MKS2. 2 PublicationsCorresponds to variant dbSNP:rs201108965EnsemblClinVar.1
Natural variantiVAR_06338873R → L in JBTS2. 3 PublicationsCorresponds to variant dbSNP:rs201108965EnsemblClinVar.1
Natural variantiVAR_06817089L → F in JBTS2. 1 PublicationCorresponds to variant dbSNP:rs780098806Ensembl.1
Meckel syndrome 2 (MKS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06402973R → H in JBTS2 and MKS2. 2 PublicationsCorresponds to variant dbSNP:rs201108965EnsemblClinVar.1
Natural variantiVAR_06403077G → A in MKS2. 1 PublicationCorresponds to variant dbSNP:rs386833830EnsemblClinVar.1
Natural variantiVAR_064031114L → R in MKS2. 1 PublicationCorresponds to variant dbSNP:rs386833831EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
51259

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TMEM216

MalaCards human disease database

More...
MalaCardsi
TMEM216
MIMi603194 phenotype
608091 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000187049

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

More...
Orphaneti
2318 Joubert syndrome with oculorenal defect
564 Meckel syndrome
2754 Orofaciodigital syndrome type 6

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162406553

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9P0N5 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMEM216

Domain mapping of disease mutations (DMDM)

More...
DMDMi
380865448

<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_00003189551 – 145Transmembrane protein 216Add BLAST145

Proteomic databases

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

More...
PaxDbi
Q9P0N5

PeptideAtlas

More...
PeptideAtlasi
Q9P0N5

PRoteomics IDEntifications database

More...
PRIDEi
Q9P0N5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83582 [Q9P0N5-1]
83583 [Q9P0N5-2]
83584 [Q9P0N5-3]

<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
ENSG00000187049 Expressed in pituitary gland and 189 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9P0N5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P0N5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000187049 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

Part of the tectonic-like complex (also named B9 complex).

Interacts with TMEM107.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119415, 244 interactors

Database of interacting proteins

More...
DIPi
DIP-61992N

Protein interaction database and analysis system

More...
IntActi
Q9P0N5, 243 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000440638

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9P0N5 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
KOG4502 Eukaryota
ENOG4111ZCW LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153899

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_135948_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P0N5

KEGG Orthology (KO)

More...
KOi
K19385

Identification of Orthologs from Complete Genome Data

More...
OMAi
WYFAAFY

Database of Orthologous Groups

More...
OrthoDBi
1584392at2759

TreeFam database of animal gene trees

More...
TreeFami
TF323824

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019184 Uncharacterised_TM-17

The PANTHER Classification System

More...
PANTHERi
PTHR13531 PTHR13531, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09799 Transmemb_17, 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 (3+)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 3 <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

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P0N5-1) [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
MLPRGLKMAP RGKRLSSTPL EILFFLNGWY NATYFLLELF IFLYKGVLLP
60 70 80 90 100
YPTANLVLDV VMLLLYLGIE VIRLFFGTKG NLCQRKMPLS ISVALTFPSA
110 120 130 140
MMASYYLLLQ TYVLRLEAIM NGILLFFCGS ELLLEVLTLA AFSRI
Length:145
Mass (Da):16,487
Last modified:March 21, 2012 - v3
<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:i0F5024FB2B96D6CB
GO
Isoform 2 (identifier: Q9P0N5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.
     144-145: RI → SMDRI

Show »
Length:87
Mass (Da):9,803
Checksum:iDE574B69C6BBF3C0
GO
Isoform 3 (identifier: Q9P0N5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     144-145: RI → SMDRI

Show »
Length:148
Mass (Da):16,820
Checksum:iA64E11999194FB2B
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QT25J3QT25_HUMAN
Transmembrane protein 216
TMEM216
84Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q9P0N5-2)
<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 conflicti86R → T in AAF36164 (PubMed:11042152).Curated1
Sequence conflicti86R → T in CAG33447 (Ref. 3) Curated1
Sequence conflicti86R → T in AAH11010 (PubMed:15489334).Curated1
Isoform 3 (identifier: Q9P0N5-3)
Sequence conflicti147R → T in AAF36164 (PubMed:11042152).Curated1
Sequence conflicti147R → T in CAG33447 (Ref. 3) Curated1
Sequence conflicti147R → T in AAH11010 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06402873R → C in JBTS2. 2 PublicationsCorresponds to variant dbSNP:rs779526456EnsemblClinVar.1
Natural variantiVAR_06402973R → H in JBTS2 and MKS2. 2 PublicationsCorresponds to variant dbSNP:rs201108965EnsemblClinVar.1
Natural variantiVAR_06338873R → L in JBTS2. 3 PublicationsCorresponds to variant dbSNP:rs201108965EnsemblClinVar.1
Natural variantiVAR_06403077G → A in MKS2. 1 PublicationCorresponds to variant dbSNP:rs386833830EnsemblClinVar.1
Natural variantiVAR_06817089L → F in JBTS2. 1 PublicationCorresponds to variant dbSNP:rs780098806Ensembl.1
Natural variantiVAR_064031114L → R in MKS2. 1 PublicationCorresponds to variant dbSNP:rs386833831EnsemblClinVar.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_0402951 – 61Missing in isoform 2. 3 PublicationsAdd BLAST61
Alternative sequenceiVSP_040296144 – 145RI → SMDRI in isoform 2 and isoform 3. 3 Publications2

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
AF151078 mRNA Translation: AAF36164.1
AK303687 mRNA Translation: BAH14017.1
CR457166 mRNA Translation: CAG33447.1
AP003108 Genomic DNA No translation available.
BC011010 mRNA Translation: AAH11010.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53640.1 [Q9P0N5-1]
CCDS86205.1 [Q9P0N5-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001167461.1, NM_001173990.2 [Q9P0N5-1]
NP_001167462.1, NM_001173991.2 [Q9P0N5-3]
NP_001317214.1, NM_001330285.1
NP_057583.2, NM_016499.5 [Q9P0N5-2]
XP_005274096.1, XM_005274039.3 [Q9P0N5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000334888; ENSP00000334844; ENSG00000187049 [Q9P0N5-3]
ENST00000515837; ENSP00000440638; ENSG00000187049 [Q9P0N5-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51259

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51259

UCSC genome browser

More...
UCSCi
uc010rlj.3 human [Q9P0N5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF151078 mRNA Translation: AAF36164.1
AK303687 mRNA Translation: BAH14017.1
CR457166 mRNA Translation: CAG33447.1
AP003108 Genomic DNA No translation available.
BC011010 mRNA Translation: AAH11010.1
CCDSiCCDS53640.1 [Q9P0N5-1]
CCDS86205.1 [Q9P0N5-3]
RefSeqiNP_001167461.1, NM_001173990.2 [Q9P0N5-1]
NP_001167462.1, NM_001173991.2 [Q9P0N5-3]
NP_001317214.1, NM_001330285.1
NP_057583.2, NM_016499.5 [Q9P0N5-2]
XP_005274096.1, XM_005274039.3 [Q9P0N5-2]

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

BioGridi119415, 244 interactors
DIPiDIP-61992N
IntActiQ9P0N5, 243 interactors
STRINGi9606.ENSP00000440638

Polymorphism and mutation databases

BioMutaiTMEM216
DMDMi380865448

Proteomic databases

PaxDbiQ9P0N5
PeptideAtlasiQ9P0N5
PRIDEiQ9P0N5
ProteomicsDBi83582 [Q9P0N5-1]
83583 [Q9P0N5-2]
83584 [Q9P0N5-3]

Genome annotation databases

EnsembliENST00000334888; ENSP00000334844; ENSG00000187049 [Q9P0N5-3]
ENST00000515837; ENSP00000440638; ENSG00000187049 [Q9P0N5-1]
GeneIDi51259
KEGGihsa:51259
UCSCiuc010rlj.3 human [Q9P0N5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51259
DisGeNETi51259

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMEM216
GeneReviewsiTMEM216
HGNCiHGNC:25018 TMEM216
HPAiENSG00000187049 Low tissue specificity
MalaCardsiTMEM216
MIMi603194 phenotype
608091 phenotype
613277 gene
neXtProtiNX_Q9P0N5
OpenTargetsiENSG00000187049
Orphaneti2318 Joubert syndrome with oculorenal defect
564 Meckel syndrome
2754 Orofaciodigital syndrome type 6
PharmGKBiPA162406553

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4502 Eukaryota
ENOG4111ZCW LUCA
GeneTreeiENSGT00940000153899
HOGENOMiCLU_135948_0_0_1
InParanoidiQ9P0N5
KOiK19385
OMAiWYFAAFY
OrthoDBi1584392at2759
TreeFamiTF323824

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

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

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ChiTaRSi
TMEM216 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TMEM216

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

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GenomeRNAii
51259
PharosiQ9P0N5 Tbio

Protein Ontology

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PROi
PR:Q9P0N5
RNActiQ9P0N5 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000187049 Expressed in pituitary gland and 189 other tissues
ExpressionAtlasiQ9P0N5 baseline and differential
GenevisibleiQ9P0N5 HS

Family and domain databases

InterProiView protein in InterPro
IPR019184 Uncharacterised_TM-17
PANTHERiPTHR13531 PTHR13531, 1 hit
PfamiView protein in Pfam
PF09799 Transmemb_17, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiTM216_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: Q9P0N5
Secondary accession number(s): A8MZ23, B7Z8N1
<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 26, 2008
Last sequence update: March 21, 2012
Last modified: April 22, 2020
This is version 129 of the entry and version 3 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 11
    Human chromosome 11: 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
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