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Q9P0N5

- TM216_HUMAN

UniProt

Q9P0N5 - TM216_HUMAN

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Protein

Transmembrane protein 216

Gene

TMEM216

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cilium assembly Source: UniProtKB
  2. cilium morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 216
Gene namesi
Name:TMEM216
ORF Names:HSPC244
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:25018. TMEM216.

Subcellular locationi

Membrane Curated; Multi-pass membrane protein Curated. Cytoplasmcytoskeletoncilium basal body 1 Publication
Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.

GO - Cellular componenti

  1. cilium Source: UniProtKB
  2. cytoplasm Source: UniProtKB-KW
  3. cytoskeleton Source: UniProtKB-KW
  4. integral component of membrane Source: UniProtKB-KW
  5. TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 2 (JBTS2) [MIM:608091]: A 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731R → C in JBTS2. 2 Publications
VAR_064028
Natural varianti73 – 731R → H in JBTS2 and MKS2. 2 Publications
VAR_064029
Natural varianti73 – 731R → L in JBTS2. 3 Publications
VAR_063388
Natural varianti89 – 891L → F in JBTS2. 1 Publication
VAR_068170
Meckel syndrome 2 (MKS2) [MIM:603194]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731R → H in JBTS2 and MKS2. 2 Publications
VAR_064029
Natural varianti77 – 771G → A in MKS2. 1 Publication
VAR_064030
Natural varianti114 – 1141L → R in MKS2. 1 Publication
VAR_064031

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiQ9P0N5.
PRIDEiQ9P0N5.

Expressioni

Gene expression databases

BgeeiQ9P0N5.
CleanExiHS_TMEM216.
ExpressionAtlasiQ9P0N5. baseline and differential.
GenevestigatoriQ9P0N5.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi119415. 2 interactions.
IntActiQ9P0N5. 1 interaction.
STRINGi9606.ENSP00000381950.

Structurei

3D structure databases

ProteinModelPortaliQ9P0N5.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

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

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG247493.
GeneTreeiENSGT00390000002170.
HOGENOMiHOG000076881.
HOVERGENiHBG059533.
InParanoidiQ9P0N5.
OMAiYFLLLQT.
OrthoDBiEOG7SV0XB.
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. Align

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. 1 PublicationCurated
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. 1 PublicationCurated
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
VAR_064028
Natural varianti73 – 731R → H in JBTS2 and MKS2. 2 Publications
VAR_064029
Natural varianti73 – 731R → L in JBTS2. 3 Publications
VAR_063388
Natural varianti77 – 771G → A in MKS2. 1 Publication
VAR_064030
Natural varianti89 – 891L → F in JBTS2. 1 Publication
VAR_068170
Natural varianti114 – 1141L → R in MKS2. 1 Publication
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:
EMBL
GenBank
DDBJ
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_005274039.2. [Q9P0N5-2]
UniGeneiHs.26745.

Genome annotation databases

EnsembliENST00000334888; ENSP00000334844; ENSG00000187049. [Q9P0N5-3]
ENST00000515837; ENSP00000440638; ENSG00000187049. [Q9P0N5-1]
GeneIDi51259.
KEGGihsa:51259.
UCSCiuc001nrn.2. human. [Q9P0N5-2]
uc010rlj.2. human. [Q9P0N5-1]
uc021qkf.1. human. [Q9P0N5-3]

Polymorphism databases

DMDMi380865448.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS53640.1. [Q9P0N5-1 ]
RefSeqi NP_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_005274039.2. [Q9P0N5-2 ]
UniGenei Hs.26745.

3D structure databases

ProteinModelPortali Q9P0N5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119415. 2 interactions.
IntActi Q9P0N5. 1 interaction.
STRINGi 9606.ENSP00000381950.

Polymorphism databases

DMDMi 380865448.

Proteomic databases

PaxDbi Q9P0N5.
PRIDEi Q9P0N5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000334888 ; ENSP00000334844 ; ENSG00000187049 . [Q9P0N5-3 ]
ENST00000515837 ; ENSP00000440638 ; ENSG00000187049 . [Q9P0N5-1 ]
GeneIDi 51259.
KEGGi hsa:51259.
UCSCi uc001nrn.2. human. [Q9P0N5-2 ]
uc010rlj.2. human. [Q9P0N5-1 ]
uc021qkf.1. human. [Q9P0N5-3 ]

Organism-specific databases

CTDi 51259.
GeneCardsi GC11P061159.
GeneReviewsi TMEM216.
HGNCi HGNC:25018. TMEM216.
MIMi 603194. phenotype.
608091. phenotype.
613277. gene.
neXtProti NX_Q9P0N5.
Orphaneti 2318. Joubert syndrome with oculorenal defect.
2754. Joubert syndrome with orofaciodigital defect.
564. Meckel syndrome.
PharmGKBi PA162406553.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG247493.
GeneTreei ENSGT00390000002170.
HOGENOMi HOG000076881.
HOVERGENi HBG059533.
InParanoidi Q9P0N5.
OMAi YFLLLQT.
OrthoDBi EOG7SV0XB.
TreeFami TF323824.

Miscellaneous databases

GeneWikii TMEM216.
GenomeRNAii 51259.
NextBioi 54428.
PROi Q9P0N5.
SOURCEi Search...

Gene expression databases

Bgeei Q9P0N5.
CleanExi HS_TMEM216.
ExpressionAtlasi Q9P0N5. baseline and differential.
Genevestigatori Q9P0N5.

Family and domain databases

InterProi IPR019184. Uncharacterised_TM-17.
[Graphical view ]
Pfami PF09799. Transmemb_17. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Umbilical cord blood.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Kidney.
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  6. "Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation."
    Edvardson S., Shaag A., Zenvirt S., Erlich Y., Hannon G.J., Shanske A.L., Gomori J.M., Ekstein J., Elpeleg O.
    Am. J. Hum. Genet. 86:93-97(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT JBTS2 LEU-73.
  7. Cited for: VARIANTS MKS2 HIS-73; ALA-77 AND ARG-114, VARIANTS JBTS2 CYS-73; HIS-73 AND LEU-73.
  8. Cited for: VARIANT JBTS2 PHE-89.
  9. Cited for: VARIANTS JBTS2 CYS-73; HIS-73 AND LEU-73, FUNCTION, SUBCELLULAR LOCATION.

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: October 29, 2014
This is version 89 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

External Data

Dasty 3