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Q9P0N5

- TM216_HUMAN

UniProt

Q9P0N5 - TM216_HUMAN

Protein

Transmembrane protein 216

Gene

TMEM216

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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

    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

    ArrayExpressiQ9P0N5.
    BgeeiQ9P0N5.
    CleanExiHS_TMEM216.
    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.
    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

    MLPRGLKMAP RGKRLSSTPL EILFFLNGWY NATYFLLELF IFLYKGVLLP    50
    YPTANLVLDV VMLLLYLGIE VIRLFFGTKG NLCQRKMPLS ISVALTFPSA 100
    MMASYYLLLQ TYVLRLEAIM NGILLFFCGS ELLLEVLTLA AFSRI 145
    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.
    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

    ArrayExpressi Q9P0N5.
    Bgeei Q9P0N5.
    CleanExi HS_TMEM216.
    Genevestigatori Q9P0N5.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 88 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