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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 Inositol phosphate metabolism (KEGG) and Organelle biogenesis and maintenance. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G061365 1.5 Ensembl ENCODE dbSUPER 24.2 -23.2 -23152 5.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B YY1 TCF12 GATA2 FOS TMEM216 DDB1 TKFC CYB561A3 GC11P061375
GH11G061428 1.4 ENCODE dbSUPER 25.1 +38.2 38244 3.3 HNRNPUL1 PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 TMEM216 DDB1 TKFC CPSF7 SDHAF2 ENSG00000256591
GH11G061417 1.2 Ensembl ENCODE dbSUPER 23.8 +26.5 26538 2.4 PKNOX1 CEBPG ZFHX2 ZNF316 NFE2 NFE2L2 RFX1 USF2 MAFG CEBPB TMEM216 DDB1 TKFC MYRF DKFZP434K028 SDHAF2 PIR40905 PIR50742
GH11G061355 1.7 Ensembl ENCODE dbSUPER 13 -31.8 -31812 8.6 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 TMEM138 PRPF19 TMEM216 CPSF7 ENSG00000279246
GH11G061391 1.4 Ensembl ENCODE 14.5 +0.8 823 3.0 HDGF PKNOX1 FOXA2 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 TMEM216 TMEM138 DDB1 TKFC VPS37C RN7SL23P GC11P061399 PIR41666
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000040261 1213 1401 HDGF CREB3L1 MLX ZFP64 SIN3A ARID4B DMAP1 ZNF2 YY1 SLC30A9

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 chromosomal 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

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

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM216 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 3
mitochondrion 2
plasma membrane 1
peroxisome 1
nucleus 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:0005929 cilium IDA 22282472
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IMP 22282472
GO:0097711 ciliary basal body docking TAS --
genes like me logo Genes that share ontologies with TMEM216: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM216 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TMEM216 Gene:

TMEM216

SOURCE GeneReport for Unigene cluster for TMEM216 Gene:

Hs.26745

Evidence on tissue expression from TISSUES for TMEM216 Gene

  • Nervous system(4.5)
  • Kidney(4.3)
  • Blood(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM216 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia TMEM216 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia TMEM216 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM216 34 35
  • 90.54 (n)
rat
(Rattus norvegicus)
Mammalia Tmem216 34
  • 87.71 (n)
mouse
(Mus musculus)
Mammalia Tmem216 34 16 35
  • 85.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM216 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves TMEM216 34 35
  • 66.67 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM216 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490116 34
  • 60.51 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC555988 34
  • 62.35 (n)
TMEM216 35
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
Species where no ortholog for TMEM216 was found in the sources mined by GeneCards:
  • 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
rs201108965 Pathogenic, Joubert syndrome 2 (JBTS2) [MIM:608091], Joubert syndrome 2 (JBTS2) [MIM:608091], Meckel syndrome 2 (MKS2) [MIM:603194] 61,393,965(+) AATTC(A/G/T)CCTGT reference, missense
rs386833830 other, Meckel syndrome 2 (MKS2) [MIM:603194] 61,397,774(+) GACAG(C/G)TACAA reference, missense
rs386833831 other, Meckel syndrome 2 (MKS2) [MIM:603194] 61,397,885(+) CGTAC(G/T)CCGCC reference, missense
rs779526456 Pathogenic, Joubert syndrome 2 (JBTS2) [MIM:608091] 61,393,964(+) TAATT(C/T)GCCTG reference, missense
rs780098806 Joubert syndrome 2 (JBTS2) [MIM:608091] 61,397,809(+) TGCCG(C/T)TCAGT reference, missense

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM216

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

Disorders for TMEM216 Gene

MalaCards: The human disease database

(13) 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
joubert syndrome with oculorenal anomalies
  • arima syndrome
orofaciodigital syndrome vi
  • joubert syndrome with orofaciodigital defect
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 64
  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 4 64
  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 64
  4. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PMID: 22282472) Lee J.H. … Gleeson J.G. (Science 2012) 3 4 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for TMEM216 Gene

Sources for TMEM216 Gene

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