Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9P0N5 (TM216_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 216
Gene names
Name:TMEM216
ORF Names:HSPC244
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length145 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition By similarity. Ref.9

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein Potential. Cytoplasmcytoskeletoncilium basal body By similarity. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Ref.9

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

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 (Ref.9).

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P0N5-1)

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.
Isoform 2 (identifier: Q9P0N5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.
     144-145: RI → SMDRI
Isoform 3 (identifier: Q9P0N5-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 145145Transmembrane protein 216
PRO_0000318955

Regions

Transmembrane22 – 4221Helical; Potential
Transmembrane56 – 7621Helical; Potential
Transmembrane89 – 10921Helical; Potential
Transmembrane122 – 14221Helical; Potential

Natural variations

Alternative sequence1 – 6161Missing in isoform 2.
VSP_040295
Alternative sequence144 – 1452RI → SMDRI in isoform 2 and isoform 3.
VSP_040296
Natural variant731R → C in JBTS2. Ref.7 Ref.9
VAR_064028
Natural variant731R → H in JBTS2 and MKS2. Ref.7 Ref.9
VAR_064029
Natural variant731R → L in JBTS2. Ref.6 Ref.7 Ref.9
VAR_063388
Natural variant771G → A in MKS2. Ref.7
VAR_064030
Natural variant891L → F in JBTS2. Ref.8
VAR_068170
Natural variant1141L → R in MKS2. Ref.7
VAR_064031

Experimental info

Isoform 2:
Sequence conflict861R → T in AAF36164. Ref.1
Sequence conflict861R → T in CAG33447. Ref.3
Sequence conflict861R → T in AAH11010. Ref.5
Isoform 3:
Sequence conflict1471R → T in AAF36164. Ref.1
Sequence conflict1471R → T in CAG33447. Ref.3
Sequence conflict1471R → T in AAH11010. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 21, 2012. Version 3.
Checksum: 0F5024FB2B96D6CB

FASTA14516,487
        10         20         30         40         50         60 
MLPRGLKMAP RGKRLSSTPL EILFFLNGWY NATYFLLELF IFLYKGVLLP YPTANLVLDV 

        70         80         90        100        110        120 
VMLLLYLGIE VIRLFFGTKG NLCQRKMPLS ISVALTFPSA MMASYYLLLQ TYVLRLEAIM 

       130        140 
NGILLFFCGS ELLLEVLTLA AFSRI 

« Hide

Isoform 2 [UniParc].

Checksum: DE574B69C6BBF3C0
Show »

FASTA879,803
Isoform 3 [UniParc].

Checksum: A64E11999194FB2B
Show »

FASTA14816,820

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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]"Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes."
Valente E.M., Logan C.V., Mougou-Zerelli S., Lee J.H., Silhavy J.L., Brancati F., Iannicelli M., Travaglini L., Romani S., Illi B., Adams M., Szymanska K., Mazzotta A., Lee J.E., Tolentino J.C., Swistun D., Salpietro C.D., Fede C. expand/collapse author list , Gabriel S., Russ C., Cibulskis K., Sougnez C., Hildebrandt F., Otto E.A., Held S., Diplas B.H., Davis E.E., Mikula M., Strom C.M., Ben-Zeev B., Lev D., Sagie T.L., Michelson M., Yaron Y., Krause A., Boltshauser E., Elkhartoufi N., Roume J., Shalev S., Munnich A., Saunier S., Inglehearn C., Saad A., Alkindy A., Thomas S., Vekemans M., Dallapiccola B., Katsanis N., Johnson C.A., Attie-Bitach T., Gleeson J.G.
Nat. Genet. 42:619-625(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MKS2 HIS-73; ALA-77 AND ARG-114, VARIANTS JBTS2 CYS-73; HIS-73 AND LEU-73.
[8]"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."
Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L., Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M., Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I., Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J., Michaud J.L.
Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JBTS2 PHE-89.
[9]"Evolutionarily assembled cis-regulatory module at a human ciliopathy locus."
Lee J.H., Silhavy J.L., Lee J.E., Al-Gazali L., Thomas S., Davis E.E., Bielas S.L., Hill K.J., Iannicelli M., Brancati F., Gabriel S.B., Russ C., Logan C.V., Sharif S.M., Bennett C.P., Abe M., Hildebrandt F., Diplas B.H. expand/collapse author list , Attie-Bitach T., Katsanis N., Rajab A., Koul R., Sztriha L., Waters E.R., Ferro-Novick S., Woods G.C., Johnson C.A., Valente E.M., Zaki M.S., Gleeson J.G.
Science 335:966-969(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JBTS2 CYS-73; HIS-73 AND LEU-73, FUNCTION, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001167461.1. NM_001173990.2.
NP_001167462.1. NM_001173991.2.
NP_057583.2. NM_016499.5.
XP_005274096.1. XM_005274039.2.
UniGeneHs.26745.

3D structure databases

ProteinModelPortalQ9P0N5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119415. 2 interactions.
IntActQ9P0N5. 1 interaction.
STRING9606.ENSP00000381950.

Polymorphism databases

DMDM380865448.

Proteomic databases

PaxDbQ9P0N5.
PRIDEQ9P0N5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334888; ENSP00000334844; ENSG00000187049. [Q9P0N5-3]
ENST00000515837; ENSP00000440638; ENSG00000187049. [Q9P0N5-1]
GeneID51259.
KEGGhsa:51259.
UCSCuc001nrn.2. human. [Q9P0N5-2]
uc010rlj.2. human. [Q9P0N5-1]
uc021qkf.1. human. [Q9P0N5-3]

Organism-specific databases

CTD51259.
GeneCardsGC11P061159.
HGNCHGNC:25018. TMEM216.
MIM603194. phenotype.
608091. phenotype.
613277. gene.
neXtProtNX_Q9P0N5.
Orphanet2318. Joubert syndrome with oculorenal defect.
2754. Joubert syndrome with orofaciodigital defect.
564. Meckel syndrome.
PharmGKBPA162406553.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG247493.
HOGENOMHOG000076881.
HOVERGENHBG059533.
InParanoidQ9P0N5.
OMALMFIYKG.
OrthoDBEOG7SV0XB.
TreeFamTF323824.

Gene expression databases

ArrayExpressQ9P0N5.
BgeeQ9P0N5.
CleanExHS_TMEM216.
GenevestigatorQ9P0N5.

Family and domain databases

InterProIPR019184. Uncharacterised_TM-17.
[Graphical view]
PfamPF09799. Transmemb_17. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTMEM216.
GenomeRNAi51259.
NextBio54428.
PROQ9P0N5.
SOURCESearch...

Entry information

Entry nameTM216_HUMAN
AccessionPrimary (citable) accession number: Q9P0N5
Secondary accession number(s): A8MZ23, B7Z8N1
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: March 21, 2012
Last modified: April 16, 2014
This is version 85 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM