Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TMEM216 Gene

protein-coding   GIFtS: 49
GCID: GC11P061159

Transmembrane Protein 216

(Previous names: cerebello-oculo-renal syndrome 2, Meckel syndrome, type...)
(Previous symbols: CORS2, MKS2)
  See TMEM216-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

TryGeneCards Plus

Aliases
Transmembrane Protein 2161 2
CORS21 5
MKS21 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 tmem216-related joubert syndrome, and doid:4019. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for TMEM216

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

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)
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


See TMEM216 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000440638   ENSP00000381950   ENSP00000334844  

TMEM216 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for TMEM216
OriGene Custom MassSpec
OriGene Custom Protein Services for TMEM216
GenScript Custom Purified and Recombinant Proteins Services for TMEM216
Novus Biologicals TMEM216 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for TMEM216

 
Search eBioscience for Proteins for TMEM216 

 
Search antibodies-online for proteins for TMEM216 

 
Search antibodies-online for peptides for TMEM216

TMEM216 Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for TMEM216
Search for Antibodies for TMEM216 at Abcam
Cloud-Clone Corp. Antibodies for TMEM216
Search ThermoFisher Antibodies for TMEM216
Search antibodies-online for antibodies for TMEM216 

TMEM216 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for TMEM216
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for TMEM216
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for TMEM216
Cloud-Clone Corp. CLIAs for TMEM216
Search eBioscience for ELISAs for TMEM216 
antibodies-online kits for TMEM216 (8 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
1 InterPro protein domain:
 IPR019184 Uncharacterised_TM-17

Graphical View of Domain Structure for InterPro Entry Q9P0N5

ProtoNet protein and cluster: Q9P0N5


Find genes that share domains with TMEM216           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

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:

   genOway: Develop your customized and physiologically relevant rodent model for TMEM216

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat TMEM216 using miScript Target Protectors
4 qRT-PCR 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:
    
OriGene RNAi products in human, mouse, rat for TMEM216
Predesigned siRNA for gene silencing in human, mouse, rat TMEM216

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for TMEM216

Clone
Products:
     
OriGene clones in human, mouse for TMEM216 (see all 15)
OriGene ORF clones in mouse, rat for TMEM216
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 3): TMEM216 (NM_001173991)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM216
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM216
Addgene plasmids for TMEM216 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for TMEM216
Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM216 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM216


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
TM216_HUMAN, Q9P0N5: 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)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytoskeleton2
mitochondrion2
cytosol1
nucleus1
peroxisome1
plasma membrane1

Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--
GO:0005856cytoskeleton IEA--
GO:0005929cilium IDA--
GO:0016021integral component of membrane IEA--
GO:0035869ciliary transition zone ----

Find genes that share ontologies with TMEM216           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

SuperPaths for TMEM216 About    
See pathways by source

SuperPathContained pathways About
1Inositol phosphate metabolism (KEGG)
superpathway of inositol phosphate compounds0.60
D-myo-inositol-5-phosphate metabolism0.00
D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.36
2phospholipases
phospholipases0.34


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


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM216
Interactions:

    Search GeneGlobe Interaction Network for TMEM216

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

Selected Interacting proteins for TMEM216 (Q9P0N53 ENSP000003819504) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
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:    About this table

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

Find genes that share ontologies with TMEM216           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

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:
     
Block miRNA regulation of human, mouse, rat TMEM216 using miScript Target Protectors
4 qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for TMEM216
Predesigned siRNA for gene silencing in human, mouse, rat TMEM216
Clone
Products:
     
OriGene clones in human, mouse for TMEM216 (see all 15)
OriGene ORF clones in mouse, rat for TMEM216
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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
Addgene plasmids for TMEM216 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for TMEM216
OriGene qSTAR qPCR primer pairs in human, mouse for TMEM216
Pre-validated RT2 qPCR Primer Assay in human, mouse / rat TMEM216
  QuantiTect SYBR Green Assays in human, mouse, rat TMEM216
  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 

Selected AceView cDNA sequences (see all 111):

AI219124 BF431950 AA535522 CR622592 AI194036 CB985695 Z41702 AI701324 
NM_016499 BG498893 BQ786894 BI910875 AF009750 AI127346 AF151078 BC011010 
BF344891 AV718339 BQ771798 BE501178 AW152463 CD365466 BX281330 BM873526 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

TMEM216 expression in normal human tissues (normalized intensities)
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
 
 Blood (Hematopoietic System)
         Granulocytes Peripheral Blood
TMEM216 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMEM216 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.26745
    Custom PCR Arrays for TMEM216
Primer
Products:
OriGene qPCR primer pairs and template standards for TMEM216
OriGene qSTAR qPCR primer pairs in human, mouse for TMEM216
Pre-validated RT2 qPCR Primer Assay in human, mouse / rat TMEM216
QuantiTect SYBR Green Assays in human, mouse, rat TMEM216
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

TryGeneCards Plus

This gene was present in the common ancestor of chordates.

Orthologs for TMEM216 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem2161 , 5 transmembrane protein 2161, 5 85.82(n)1
93.62(a)1
  19 (6.60 cM)5
686421  NM_001277860.11  NP_001264789.11 
 105338655 
chicken
(Gallus gallus)
Aves TMEM2161 transmembrane protein 216 66.67(n)
66.91(a)
  777441  XM_001236891.3  XP_001236892.2 
lizard
(Anolis carolinensis)
Reptilia TMEM2166
transmembrane protein 216
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 62.35(n)
58.27(a)
  555988  XM_678677.5  XP_683769.2 


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

TryGeneCards Plus
Paralogs for TMEM216 gene
TMEM802  
1 SIMAP similar gene for TMEM216 using alignment to 2 protein entries:     TM216_HUMAN (see all proteins):
TMEM80

Find genes that share paralogs with TMEM216           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for TMEM216 (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
Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus
OMIM gene information: 613277   
OMIM disorders: 608091  603194  
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

  • 9 diseases for TMEM216:    
    About MalaCards
    tmem216-related joubert syndrome    doid:4019    joubert syndrome 2    meckel syndrome type 2
    tmem216-related meckel syndrome    joubert syndrome and related disorders    joubert syndrome    joubert syndrome 22
    meckel syndrome 1

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

    Find genes that share disorders with TMEM216           About GenesLikeMe

    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

    TryGeneCards Plus

    PubMed articles for TMEM216 gene, integrated from 10 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 associated with a TMEM216 mutation. (PubMed id 20036350)1, 2, 3 Edvardson S.... Elpeleg O. (Am. J. Hum. Genet. 2010)
    2. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. (PubMed id 20512146)1, 2, 3 Valente E.M....Gleeson J.G. (Nat. Genet. 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. (Genome Res. 2000)
    4. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PubMed id 22282472)1, 2 Lee J.H.... Gleeson J.G. (Science 2012)
    5. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (PubMed id 22425360)2 Srour M....Michaud J.L. (Am. J. Hum. Genet. 2012)
    6. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. (PubMed id 21068128)1 Otto E.A.... Hildebrandt F. (J. Med. Genet. 2011)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    8. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 51259 HGNC: 25018 AceView: gloymor Ensembl:ENSG00000187049 euGenes: HUgn51259
    ECgene: TMEM216 H-InvDB: TMEM216

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for TMEM216 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for TMEM216 gene:
    Search GeneIP for patents involving TMEM216

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TMEM216  
     OriGene qPCR primer pairs and template standards for TMEM216   OriGene Protein Over-expression Lysate for TMEM216  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TMEM216  
     OriGene qSTAR qPCR primer pairs in human, mouse for TMEM216   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TMEM216   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TMEM216   OriGene Custom Protein Services for TMEM216  

     
     
     Block miRNA regulation of human, mouse, rat TMEM216 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TMEM216
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM216 Predesigned siRNA for gene silencing in human, mouse, rat TMEM216
     QuantiFast Probe-based Assays in human, mouse, rat TMEM216 QuantiTect SYBR Green Assays in human, mouse, rat TMEM216
     Custom PCR Arrays for TMEM216 Search Chromatin IP Primers for TMEM216
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat TMEM216  Search GeneGlobe Interaction Network for TMEM216
     Regulatory tfbs in TMEM216 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TMEM216 GenScript cDNA clones with any tag delivered in your preferred vector for TMEM216
     GenScript Custom Assay Services for TMEM216 GenScript Custom overexpressing Cell Line Services for TMEM216
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for TMEM216 (TM216)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     TMEM216 lysates
     Search for Antibodies for TMEM216 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for TMEM216
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TMEM216
     Antibodies for TMEM216
     ELISAs for TMEM216
     CLIAs for TMEM216



     Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM216
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM216
     SwitchGear 3'UTR luciferase reporter plasmids for TMEM216
     SwitchGear Promoter luciferase reporter plasmids for TMEM216
     Search ThermoFisher Antibodies for TMEM216
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM216
     Browse compounds at ApexBio
     Addgene plasmids for TMEM216
      Search eBioscience for proteins for TMEM216
      Search eBioscience for elisas for TMEM216
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for TMEM216
      Search antibodies-online for antibodies for TMEM216
     antibodies-online kits for TMEM216 (8 products)
      Search antibodies-online for peptides for TMEM216
      Search antibodies-online for proteins for TMEM216
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TMEM216 gene at Home site.
    Version: 3.12.264 25 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4