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Protein

Transmembrane protein 216

Gene

TMEM216

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • cilium morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 216
Gene namesi
Name:TMEM216
ORF Names:HSPC244
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25018. TMEM216.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221HelicalSequence analysisAdd
BLAST
Transmembranei56 – 7621HelicalSequence analysisAdd
BLAST
Transmembranei89 – 10921HelicalSequence analysisAdd
BLAST
Transmembranei122 – 14221HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • cilium Source: UniProtKB
  • cytoskeleton Source: UniProtKB-KW
  • cytosol Source: Reactome
  • integral component of membrane Source: UniProtKB-KW
  • MKS complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

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.
See also OMIM:608091
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731R → C in JBTS2. 2 Publications
Corresponds to variant rs779526456 [ dbSNP | Ensembl ].
VAR_064028
Natural varianti73 – 731R → H in JBTS2 and MKS2. 2 Publications
Corresponds to variant rs201108965 [ dbSNP | Ensembl ].
VAR_064029
Natural varianti73 – 731R → L in JBTS2. 3 Publications
Corresponds to variant rs201108965 [ dbSNP | Ensembl ].
VAR_063388
Natural varianti89 – 891L → F in JBTS2. 1 Publication
Corresponds to variant rs780098806 [ dbSNP | Ensembl ].
VAR_068170
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.
See also OMIM:603194
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731R → H in JBTS2 and MKS2. 2 Publications
Corresponds to variant rs201108965 [ dbSNP | Ensembl ].
VAR_064029
Natural varianti77 – 771G → A in MKS2. 1 Publication
Corresponds to variant rs386833830 [ dbSNP | Ensembl ].
VAR_064030
Natural varianti114 – 1141L → R in MKS2. 1 Publication
Corresponds to variant rs386833831 [ dbSNP | Ensembl ].
VAR_064031

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

MalaCardsiTMEM216.
MIMi603194. phenotype.
608091. phenotype.
Orphaneti2318. Joubert syndrome with oculorenal defect.
2754. Joubert syndrome with orofaciodigital defect.
564. Meckel syndrome.
PharmGKBiPA162406553.

Polymorphism and mutation databases

BioMutaiTMEM216.
DMDMi380865448.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 145145Transmembrane protein 216PRO_0000318955Add
BLAST

Proteomic databases

PaxDbiQ9P0N5.
PeptideAtlasiQ9P0N5.
PRIDEiQ9P0N5.

Expressioni

Gene expression databases

BgeeiENSG00000187049.
CleanExiHS_TMEM216.
ExpressionAtlasiQ9P0N5. baseline and differential.
GenevisibleiQ9P0N5. HS.

Organism-specific databases

HPAiCAB009013.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi119415. 244 interactions.
IntActiQ9P0N5. 242 interactions.
STRINGi9606.ENSP00000440638.

Structurei

3D structure databases

ProteinModelPortaliQ9P0N5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4502. Eukaryota.
ENOG4111ZCW. LUCA.
GeneTreeiENSGT00390000002170.
HOGENOMiHOG000076881.
HOVERGENiHBG059533.
InParanoidiQ9P0N5.
KOiK19385.
OMAiLYFLFWQ.
OrthoDBiEOG091G0UR4.
TreeFamiTF323824.

Family and domain databases

InterProiIPR019184. Uncharacterised_TM-17.
[Graphical view]
PfamiPF09799. Transmemb_17. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P0N5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q9P0N5-2)
Sequence conflicti86 – 861R → T in AAF36164 (PubMed:11042152).Curated
Sequence conflicti86 – 861R → T in CAG33447 (Ref. 3) Curated
Sequence conflicti86 – 861R → T in AAH11010 (PubMed:15489334).Curated
Isoform 3 (identifier: Q9P0N5-3)
Sequence conflicti147 – 1471R → T in AAF36164 (PubMed:11042152).Curated
Sequence conflicti147 – 1471R → T in CAG33447 (Ref. 3) Curated
Sequence conflicti147 – 1471R → T in AAH11010 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731R → C in JBTS2. 2 Publications
Corresponds to variant rs779526456 [ dbSNP | Ensembl ].
VAR_064028
Natural varianti73 – 731R → H in JBTS2 and MKS2. 2 Publications
Corresponds to variant rs201108965 [ dbSNP | Ensembl ].
VAR_064029
Natural varianti73 – 731R → L in JBTS2. 3 Publications
Corresponds to variant rs201108965 [ dbSNP | Ensembl ].
VAR_063388
Natural varianti77 – 771G → A in MKS2. 1 Publication
Corresponds to variant rs386833830 [ dbSNP | Ensembl ].
VAR_064030
Natural varianti89 – 891L → F in JBTS2. 1 Publication
Corresponds to variant rs780098806 [ dbSNP | Ensembl ].
VAR_068170
Natural varianti114 – 1141L → R in MKS2. 1 Publication
Corresponds to variant rs386833831 [ dbSNP | Ensembl ].
VAR_064031

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6161Missing in isoform 2. 3 PublicationsVSP_040295Add
BLAST
Alternative sequencei144 – 1452RI → SMDRI in isoform 2 and isoform 3. 3 PublicationsVSP_040296

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]
RefSeqiNP_001167461.1. NM_001173990.2. [Q9P0N5-1]
NP_001167462.1. NM_001173991.2. [Q9P0N5-3]
NP_057583.2. NM_016499.5. [Q9P0N5-2]
XP_005274096.1. XM_005274039.3. [Q9P0N5-2]
UniGeneiHs.26745.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

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]
RefSeqiNP_001167461.1. NM_001173990.2. [Q9P0N5-1]
NP_001167462.1. NM_001173991.2. [Q9P0N5-3]
NP_057583.2. NM_016499.5. [Q9P0N5-2]
XP_005274096.1. XM_005274039.3. [Q9P0N5-2]
UniGeneiHs.26745.

3D structure databases

ProteinModelPortaliQ9P0N5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119415. 244 interactions.
IntActiQ9P0N5. 242 interactions.
STRINGi9606.ENSP00000440638.

Polymorphism and mutation databases

BioMutaiTMEM216.
DMDMi380865448.

Proteomic databases

PaxDbiQ9P0N5.
PeptideAtlasiQ9P0N5.
PRIDEiQ9P0N5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51259.
GeneCardsiTMEM216.
GeneReviewsiTMEM216.
HGNCiHGNC:25018. TMEM216.
HPAiCAB009013.
MalaCardsiTMEM216.
MIMi603194. phenotype.
608091. phenotype.
613277. gene.
neXtProtiNX_Q9P0N5.
Orphaneti2318. Joubert syndrome with oculorenal defect.
2754. Joubert syndrome with orofaciodigital defect.
564. Meckel syndrome.
PharmGKBiPA162406553.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4502. Eukaryota.
ENOG4111ZCW. LUCA.
GeneTreeiENSGT00390000002170.
HOGENOMiHOG000076881.
HOVERGENiHBG059533.
InParanoidiQ9P0N5.
KOiK19385.
OMAiLYFLFWQ.
OrthoDBiEOG091G0UR4.
TreeFamiTF323824.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiTMEM216. human.
GeneWikiiTMEM216.
GenomeRNAii51259.
PROiQ9P0N5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187049.
CleanExiHS_TMEM216.
ExpressionAtlasiQ9P0N5. baseline and differential.
GenevisibleiQ9P0N5. HS.

Family and domain databases

InterProiIPR019184. Uncharacterised_TM-17.
[Graphical view]
PfamiPF09799. Transmemb_17. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTM216_HUMAN
AccessioniPrimary (citable) accession number: Q9P0N5
Secondary accession number(s): A8MZ23, B7Z8N1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: March 21, 2012
Last modified: September 7, 2016
This is version 105 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

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 chromoaomal rearrangement at the amphiboan to reptile evolutionary transition around 340 million years ago (PubMed:22282472).1 Publication

Keywords - Technical termi

Complete proteome, 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.