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Aliases for TMEM216 Gene

Aliases for TMEM216 Gene

  • Transmembrane Protein 216 2 3
  • Cerebello-Oculo-Renal Syndrome 2 2
  • Meckel Syndrome, Type 2 2
  • HSPC244 3
  • JBTS2 6
  • CORS2 6
  • MKS2 6

External Ids for TMEM216 Gene

Previous Symbols for TMEM216 Gene

  • CORS2
  • MKS2

Summaries for TMEM216 Gene

Entrez Gene Summary for TMEM216 Gene

  • This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]

GeneCards Summary for TMEM216 Gene

TMEM216 (Transmembrane Protein 216) is a Protein Coding gene. Diseases associated with TMEM216 include joubert syndrome 2 and meckel syndrome 2. Among its related pathways are Inositol phosphate metabolism (KEGG) and Inositol phosphate metabolism (KEGG). An important paralog of this gene is TMEM80.

UniProtKB/Swiss-Prot for TMEM216 Gene

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

Gene Wiki entry for TMEM216 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM216 Gene

Genomics for TMEM216 Gene

Genomic Location for TMEM216 Gene

Start:
61,391,687 bp from pter
End:
61,398,863 bp from pter
Size:
7,177 bases
Orientation:
Plus strand

Genomic View for TMEM216 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM216 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM216 Gene

Regulatory Elements for TMEM216 Gene

Proteins for TMEM216 Gene

  • Protein details for TMEM216 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0N5-TM216_HUMAN
    Recommended name:
    Transmembrane protein 216
    Protein Accession:
    Q9P0N5
    Secondary Accessions:
    • A8MZ23
    • B7Z8N1

    Protein attributes for TMEM216 Gene

    Size:
    145 amino acids
    Molecular mass:
    16487 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).
    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).

    Alternative splice isoforms for TMEM216 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM216 Gene

Proteomics data for TMEM216 Gene at MOPED

Post-translational modifications for TMEM216 Gene

No Post-translational modifications

Other Protein References for TMEM216 Gene

No data available for DME Specific Peptides for TMEM216 Gene

Domains for TMEM216 Gene

Protein Domains for TMEM216 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with TMEM216: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM216 Gene

Function for TMEM216 Gene

Molecular function for TMEM216 Gene

UniProtKB/Swiss-Prot Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMEM216 Gene

Localization for TMEM216 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM216 Gene

Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM216 Gene COMPARTMENTS Subcellular localization image for TMEM216 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
mitochondrion 2
cytosol 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TMEM216 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IDA 22282472
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM216: view

Pathways for TMEM216 Gene

genes like me logo Genes that share pathways with TMEM216: view

Interacting Proteins for TMEM216 Gene

Gene Ontology (GO) - Biological Process for TMEM216 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0042384 cilium assembly IMP 22282472
GO:0060271 cilium morphogenesis ISS --
genes like me logo Genes that share ontologies with TMEM216: view

Transcripts for TMEM216 Gene

Unigene Clusters for TMEM216 Gene

Transmembrane protein 216:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM216 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b
SP1: - -
SP2: - - -
SP3:
SP4: -

Relevant External Links for TMEM216 Gene

GeneLoc Exon Structure for
TMEM216
ECgene alternative splicing isoforms for
TMEM216

Expression for TMEM216 Gene

mRNA expression in normal human tissues for TMEM216 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for TMEM216 Gene Hs.26745

genes like me logo Genes that share expressions with TMEM216: view

Orthologs for TMEM216 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM216 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM216 36
  • 99.55 (n)
  • 100 (a)
TMEM216 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM216 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM216 36
  • 90.54 (n)
  • 90.78 (a)
TMEM216 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem216 36
  • 85.82 (n)
  • 93.62 (a)
Tmem216 16
Tmem216 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 50 (a)
OneToMany
-- 37
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM216 37
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem216 36
  • 87.71 (n)
  • 94.33 (a)
chicken
(Gallus gallus)
Aves TMEM216 36
  • 66.67 (n)
  • 66.91 (a)
TMEM216 37
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM216 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490116 36
  • 60.51 (n)
  • 61.54 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC555988 36
  • 62.35 (n)
  • 58.27 (a)
TMEM216 37
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToMany
Species with no ortholog for TMEM216:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM216 Gene

ENSEMBL:
Gene Tree for TMEM216 (if available)
TreeFam:
Gene Tree for TMEM216 (if available)

Paralogs for TMEM216 Gene

Paralogs for TMEM216 Gene

Selected SIMAP similar genes for TMEM216 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TMEM216: view

Variants for TMEM216 Gene

Sequence variations from dbSNP and Humsavar for TMEM216 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs7607 -- 61,398,834(-) AAATA(C/T)ATATT utr-variant-3-prime
rs3741265 Likely benign 61,397,808(-) CTGAG(C/T)GGCAT synonymous-codon, reference
rs7102860 -- 61,391,274(+) ggggg(C/G)ggggg upstream-variant-2KB
rs7107543 -- 61,392,630(+) GCAGC(G/T)TATGC utr-variant-5-prime, upstream-variant-2KB
rs7925113 -- 61,394,401(+) gtctc(A/G)ctctg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM216 Gene

Variant ID Type Subtype PubMed ID
nsv520751 CNV Gain 19592680

Relevant External Links for TMEM216 Gene

HapMap Linkage Disequilibrium report
TMEM216
Human Gene Mutation Database (HGMD)
TMEM216

Disorders for TMEM216 Gene

(2) OMIM Diseases for TMEM216 Gene (613277)

UniProtKB/Swiss-Prot

TM216_HUMAN
  • 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. {ECO:0000269 PubMed:20036350, ECO:0000269 PubMed:20512146, ECO:0000269 PubMed:22282472, ECO:0000269 PubMed:22425360}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:20512146}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for TMEM216 Gene

Relevant External Links for TMEM216

Human Genome Epidemiology (HuGE) Navigator
TMEM216
genes like me logo Genes that share disorders with TMEM216: view

Publications for TMEM216 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4
  2. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. (PMID: 20036350) Edvardson S. … Elpeleg O. (Am. J. Hum. Genet. 2010) 2 3 4
  3. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. (PMID: 20512146) Valente E.M. … Gleeson J.G. (Nat. Genet. 2010) 2 3 4
  4. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PMID: 22282472) Lee J.H. … Gleeson J.G. (Science 2012) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4

Products for TMEM216 Gene

Sources for TMEM216 Gene

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