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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM216 Gene

protein-coding   GIFtS: 48
GCID: GC11P061159

Transmembrane Protein 216

(Previous names: cerebello-oculo-renal syndrome 2, Meckel syndrome, type...)
(Previous symbols: CORS2, MKS2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane Protein 2161 2
CORS21
MKS21
Cerebello-Oculo-Renal Syndrome 21
Meckel Syndrome, Type 21
JBTS25

External Ids:    HGNC: 250181   Entrez Gene: 512592   Ensembl: ENSG000001870497   OMIM: 6132775   UniProtKB: Q9P0N53   

Export aliases for TMEM216 gene to outside databases

Previous GC identifers: GC11P060918 GC11P057487


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 type 2, and among its related super-pathways are D-myo-inositol (1,4,5)-trisphosphate biosynthesis and Inositol phosphate metabolism. An important paralog of this gene is TMEM80.

UniProtKB/Swiss-Prot: TM216_HUMAN, Q9P0N5
Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate
ciliary membrane composition (By similarity)

Gene Wiki entry for TMEM216 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM216 gene promoter:
         Bach1   ISGF-3   C/EBPbeta   AML1a   C/EBPalpha   S8   IRF-2   ZID   Zic3   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM216 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM216

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM216


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q13.1

TMEM216 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM216 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P061159:  view genomic region     (about GC identifiers)

Start:
61,159,159 bp from pter      End:
61,166,335 bp from pter
Size:
7,177 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TM216_HUMAN, Q9P0N5 (See protein sequence)
Recommended Name: Transmembrane protein 216  
Size: 145 amino acids; 16487 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytoskeleton, cilium basal
body (By similarity). Note=Localizes at the transition zone, a region between the basal body and the ciliary
axoneme (By similarity)
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)
Secondary accessions: A8MZ23 B7Z8N1
Alternative splicing: 3 isoforms:  Q9P0N5-1   Q9P0N5-2   Q9P0N5-3   (Ref.1 (AAF36164), Ref.3 (CAG33447) and Ref.5 (AAH11010) sequences are in conflict in position: 147:R->T)

Explore the universe of human proteins at neXtProt for TMEM216: NX_Q9P0N5

Explore proteomics data for TMEM216 at MOPED 

TMEM216 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

TMEM216 Protein Expression

REFSEQ proteins (3 alternative transcripts): 
NP_001167461.1  NP_001167462.1  NP_057583.2  

ENSEMBL proteins: 
 ENSP00000440638   ENSP00000381950   ENSP00000334844  

Human Recombinant Protein Products for TMEM216: 
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Cloud-Clone Corp. Proteins for TMEM216 

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--
GO:0005929cilium IDA--
GO:0005932microtubule basal body IEA--
GO:0016021integral to membrane IEA--
GO:0035869ciliary transition zone ----

TMEM216 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for TMEM216


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR019184 Uncharacterised_TM-17

Graphical View of Domain Structure for InterPro Entry Q9P0N5

ProtoNet protein and cluster: Q9P0N5


TMEM216 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: TM216_HUMAN, Q9P0N5
Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate
ciliary membrane composition (By similarity)

Animal Models:

   inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM216 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM216

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM216 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMEM216 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM216
4 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM216:
hsa-miR-3163 hsa-miR-433 hsa-miR-4251 hsa-miR-24
SwitchGear 3'UTR luciferase reporter plasmidTMEM216 3' UTR sequence
Inhib. RNA
Products:
    
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Gene Editing
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Clone
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GenScript: all cDNA clones in your preferred vector (see all 3): TMEM216 (NM_001173991)
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM216


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for TMEM216 About                                                                                                See pathways by source

SuperPathContained pathways About
1Anandamide biosynthesis and metabolism
D-myo-inositol-5-phosphate metabolism0.50
phospholipases0.34
D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.50
2Inositol phosphate metabolism
superpathway of inositol phosphate compounds0.60


4 BioSystems Pathways for TMEM216
    D-myo-inositol-5-phosphate metabolism
D-myo-inositol (1,4,5)-trisphosphate biosynthesis
phospholipases
superpathway of inositol phosphate compounds


Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM216

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/13 Interacting proteins for TMEM216 (Q9P0N53 ENSP000003819504) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
InteractantInteraction Details
GeneCardExternal ID(s)
MCM3APO603183, ENSP000002916884I2D: score=4 STRING: ENSP00000291688
AHI1ENSP000003567744STRING: ENSP00000356774
B9D1ENSP000002614994STRING: ENSP00000261499
B9D2ENSP000002435784STRING: ENSP00000243578
CC2D2AENSP000003983914STRING: ENSP00000398391
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0042384cilium assembly IMP--
GO:0060271cilium morphogenesis ISS--

TMEM216 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM216 (TM216)

Search CenterWatch for drugs/clinical trials and news about TMEM216 / TM216

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TMEM216 gene (3 alternative transcripts): 
NM_001173990.2  NM_001173991.2  NM_016499.5  

Unigene Cluster for TMEM216:

Transmembrane protein 216
Hs.26745  [show with all ESTs]
Unigene Representative Sequence: NM_001173991
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000515837 ENST00000398979 ENST00000544795 ENST00000541473 ENST00000334888(uc021qkf.1 uc010rlj.2 uc001nrn.2)

miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM216
4 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM216:
hsa-miR-3163 hsa-miR-433 hsa-miR-4251 hsa-miR-24
SwitchGear 3'UTR luciferase reporter plasmidTMEM216 3' UTR sequence
Inhib. RNA
Products:
     
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Clone
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GenScript: all cDNA clones in your preferred vector (see all 3): TMEM216 (NM_001173991)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM216
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM216
Sirion Biotech Customized lentivirus for stable overexpression of TMEM216 
                     Customized lentivirus expression plasmids for stable overexpression of TMEM216 
Primer
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OriGene qPCR primer pairs and template standards for TMEM216
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM216
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM216

Additional mRNA sequence: 

AF151078.1 AK303687.1 BC011010.1 CR457166.1 

5 DOTS entries:

DT.315223  DT.100814476  DT.91745282  DT.75108786  DT.92013856 

24/111 AceView cDNA sequences (see all 111):

AI219124 BF431950 CR622592 AA535522 N46299 AV718339 AL538692 N36985 
AW152463 AI264212 BF344891 Z41702 BE909545 CK902345 CA415011 BG498893 
AA503222 BQ771798 AF009750 CD107159 AI075698 BQ774010 CD365967 BX281330 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM216    About this scheme

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


ECgene alternative splicing isoforms for TMEM216

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TMEM216 expression in normal human tissues (normalized intensities)      TMEM216 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAACTAACTT
TMEM216 Expression
About this image


TMEM216 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Blood (Hematopoietic System)
         Granulocytes Peripheral Blood

See TMEM216 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM216

SOURCE GeneReport for Unigene cluster: Hs.26745
    SABiosciences Custom PCR Arrays for TMEM216
Primer
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM216
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM216
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM216

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TMEM216 gene from 7/14 species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem2161 , 5 transmembrane protein 2161, 5 86.59(n)1
95.4(a)1
  19 (6.60 cM)5
686421  NM_026798.21  NP_081074.11 
 105338655 
chicken
(Gallus gallus)
Aves TMEM2161 transmembrane protein 216 66.67(n)
66.91(a)
  777441  XM_001236891.2  XP_001236892.2 
lizard
(Anolis carolinensis)
Reptilia TMEM2166
Uncharacterized protein
77(a)
1 ↔ 1
GL343235.1(852576-854425)
African clawed frog
(Xenopus laevis)
Amphibia AW635541.12   -- 73.75(n)    AW635541.1 
zebrafish
(Danio rerio)
Actinopterygii LOC5559881 transmembrane protein 216-like 62.75(n)
59.56(a)
  555988  XM_678677.4  XP_683769.2 
fruit fly
(Drosophila melanogaster)
Insecta CG81166
CG117606
--
30(a)
28(a)
many ↔ many
many ↔ many
3R(4541956-4547050)
3R(4544920-4545867)
worm
(Caenorhabditis elegans)
Secernentea mks-26
Protein MKS-2
30(a)
1 → many
II(6218619-6219511)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for TMEM216 gene
TMEM802  
1 SIMAP similar gene for TMEM216 using alignment to 2 protein entries:     TM216_HUMAN (see all proteins):
TMEM80

TMEM216 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/183 SNPs in TMEM216 are shown (see all 183)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0681704
Joubert syndrome 2 (JBTS2)4--see VAR_0681702 L F mis40--------
VAR_0640284
Joubert syndrome 2 (JBTS2)4--see VAR_0640282 R C mis40--------
VAR_0640314
Meckel syndrome 2 (MKS2)4--see VAR_0640312 L R mis40--------
VAR_0640304
Meckel syndrome 2 (MKS2)4--see VAR_0640302 G A mis40--------
VAR_0633884
Joubert syndrome 2 (JBTS2)4--see VAR_0633882 R L mis40--------
VAR_0640294
Meckel syndrome 2 (MKS2)4--see VAR_0640292 R H mis40--------
rs2011089651,2
Cpathogenic161081840(+) AATTCA/G/TCCTGT 9 H R L mis11EU 569
rs1460243421,2
C--61078238(+) TGTGGG/TCCATG 2 -- us2k10--------
rs1399901551,2
--61078242(+) GGCCAG/TGTGGT 2 -- us2k10--------
rs734923971,2
C,F--61078263(+) ACTACT/GTAACA 2 -- us2k12Minor allele frequency- G:0.24WA 120

HapMap Linkage Disequilibrium report for TMEM216 (61159159 - 61166335 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for TMEM216:    About this table     
Variant IDTypeSubtypePubMed ID
nsv520751CNV Gain19592680


Human Gene Mutation Database (HGMD): TMEM216
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing TMEM216
DNA2.0 Custom Variant and Variant Library Synthesis for TMEM216

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 613277   
OMIM disorders: 608091  
UniProtKB/Swiss-Prot: TM216_HUMAN, Q9P0N5
  • 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
  • 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

  • 20 diseases for TMEM216:    About MalaCards
    joubert syndrome 2    meckel syndrome type 2    tmem216-related joubert syndrome    tmem216-related meckel syndrome
    encephalocele    encephaloceles    patau syndrome    meckel syndrome
    apraxia    joubert syndrome    seckel syndrome    senior-loken syndrome
    joubert syndrome and related disorders    nephronophthisis    hypotonia    cerebellar ataxia
    polydactyly    ataxia    retinitis    hepatitis

    5 diseases from the University of Copenhagen DISEASES database for TMEM216:
    Polydactyly     Nephronophthisis     Seckel syndrome     Apraxia
    DOID:4019

    TMEM216 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: TMEM216 (1 document)

    Export disorders for TMEM216 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMEM216 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with TMEM216)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is assoc iated with a TMEM216 mutation. (PubMed id 20036350)1, 2, 3 Edvardson S....Elpeleg O. (2010)
    2. Mutations in TMEM216 perturb ciliogenesis and cause J oubert, Meckel and related syndromes. (PubMed id 20512146)1, 2, 3 Valente E.M....Gleeson J.G. (2010)
    3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (2000)
    4. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PubMed id 22282472)1, 2 Lee J.H.... Gleeson J.G. (2012)
    5. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (PubMed id 22425360)2 Srour M....Michaud J.L. (2012)
    6. Mutation analysis of 18 nephronophthisis associated c iliopathy disease genes using a DNA pooling and next generation sequencing stra tegy. (PubMed id 21068128)1 Otto E.A....Hildebrandt F. (2010)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51259 HGNC: 25018 AceView: gloymor Ensembl:ENSG00000187049 euGenes: HUgn51259
    ECgene: TMEM216 H-InvDB: TMEM216

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for TMEM216 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for TMEM216 gene:
    Search GeneIP for patents involving TMEM216

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