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Aliases for TMEM216 Gene

Aliases for TMEM216 Gene

  • Transmembrane Protein 216 2 3 5
  • Cerebello-Oculo-Renal Syndrome 2 2
  • Meckel Syndrome, Type 2 2
  • HSPC244 3

External Ids for TMEM216 Gene

Previous HGNC Symbols for TMEM216 Gene

  • CORS2
  • MKS2

Previous GeneCards Identifiers for TMEM216 Gene

  • GC11P060918
  • GC11P061159
  • GC11P057487

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 Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. 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

Regulatory Elements for TMEM216 Gene

Enhancers for TMEM216 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMEM216 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM216 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM216 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM216 Gene

Chromosome:
11
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

Genes around TMEM216 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM216 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM216 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for TMEM216 Gene

Protein Domains for TMEM216 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM216 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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.

Phenotypes for TMEM216 Gene

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

Human Phenotype Ontology for TMEM216 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
cytosol 5
cytoskeleton 3
extracellular 3
mitochondrion 2
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TMEM216 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0036038 TCTN-B9D complex ISS --
genes like me logo Genes that share ontologies with TMEM216: view

Pathways & Interactions 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

None

No data available for SIGNOR curated interactions for TMEM216 Gene

Drugs & Compounds for TMEM216 Gene

No Compound Related Data Available

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 expression patterns with TMEM216: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TMEM216 Gene

Orthologs for TMEM216 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM216 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TMEM216 35
  • 90.54 (n)
  • 90.78 (a)
TMEM216 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem216 35
  • 85.82 (n)
  • 93.62 (a)
Tmem216 16
Tmem216 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM216 35
  • 99.55 (n)
  • 100 (a)
TMEM216 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem216 35
  • 87.71 (n)
  • 94.33 (a)
cow
(Bos Taurus)
Mammalia TMEM216 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 50 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM216 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM216 35
  • 66.67 (n)
  • 66.91 (a)
TMEM216 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM216 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490116 35
  • 60.51 (n)
  • 61.54 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC555988 35
  • 62.35 (n)
  • 58.27 (a)
TMEM216 36
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
VAR_063388 Joubert syndrome 2 (JBTS2)
VAR_064028 Joubert syndrome 2 (JBTS2)
VAR_064029 Joubert syndrome 2 (JBTS2)
VAR_064029 Meckel syndrome 2 (MKS2)
VAR_064030 Meckel syndrome 2 (MKS2)

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

Variant ID Type Subtype PubMed ID
nsv520751 CNV Gain 19592680

Variation tolerance for TMEM216 Gene

Residual Variation Intolerance Score: 79.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM216 Gene

Human Gene Mutation Database (HGMD)
TMEM216

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM216 Gene

Disorders for TMEM216 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TMEM216 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 2
  • cerebellooculorenal syndrome 2
meckel syndrome 2
  • meckel syndrome type 2
tmem216-related joubert syndrome
  • joubert syndrome 2
joubert syndrome with orofaciodigital defect
  • orofaciodigital syndrome vi
meckel syndrome 1
  • meckel syndrome
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for TMEM216

Human Genome Epidemiology (HuGE) Navigator
TMEM216
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM216
genes like me logo Genes that share disorders with TMEM216: view

No data available for Genatlas for TMEM216 Gene

Publications for TMEM216 Gene

  1. 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 67
  2. 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
  3. 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. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  5. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PMID: 22282472) Lee J.H. … Gleeson J.G. (Science 2012) 3

Products for TMEM216 Gene

Sources for TMEM216 Gene

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