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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

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)

Explore 16 diseases affiliated with
TMEM216 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transmembrane Protein 216¹ ²		MGC13379¹
JBTS2¹ ⁵		MKS2¹
CORS2¹		Cerebello-Oculo-Renal Syndrome 2¹
HSPC244¹		Meckel Syndrome, Type 2¹

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:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

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 plasmid: TMEM216 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

TMEM216 Protein expression data from MOPED and PaxDb: About this image

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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	Uscn Proteins for TMEM216

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005929	cilium	IDA	--
GO:0005932	microtubule basal body	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0035869	ciliary transition zone	--	--

TMEM216 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TMEM216

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

TMEM216 for domains About GeneDecksing

1 InterPro domain/family:

IPR019184 Uncharacterised_TM-17

Graphical View of Domain Structure for InterPro Entry Q9P0N5

ProtoNet protein and cluster: Q9P0N5

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 - Customizable classic, inducible, and humanized mouse model solutions for TMEM216

miRNA Products:		OriGene 3'-UTR Clone: TMEM216 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM216
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		hsa-miR-3163 hsa-miR-433 hsa-miR-4251 hsa-miR-24
		SwitchGear 3'UTR luciferase reporter plasmid: TMEM216 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM216 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM216 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

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, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

D-myo-inositol-5-phosphate metabolism

D-myo-inositol-5-phosphate metabolism

1.00

D-myo-inositol (1,4,5)-trisphosphate biosynthesis

0.50

Inositol phosphate metabolism

superpathway of inositol phosphate compounds

0.59

Acyl chain remodelling of PE

phospholipases

0.39

4 BioSystems Pathways for TMEM216

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

Interactions:

Search SABiosciences Gene Network Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MCM3AP	O60318³, ENSP00000291688⁴	I2D: score=4 STRING: ENSP00000291688
AHI1	ENSP00000356774⁴	STRING: ENSP00000356774
B9D1	ENSP00000261499⁴	STRING: ENSP00000261499
B9D2	ENSP00000243578⁴	STRING: ENSP00000243578
CC2D2A	ENSP00000398391⁴	STRING: ENSP00000398391

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0042384	cilium assembly	IMP	--
GO:0060271	cilium morphogenesis	ISS	--

TMEM216 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
Search CenterWatch for drugs/clinical trials and news about TMEM216 / TM216

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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:		OriGene 3'-UTR Clone: TMEM216 Browse OriGene MicroRNA Expression Plasmids
		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 plasmid: TMEM216 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against TMEM216

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM216

Additional cDNA 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):

CR622592 BF431950 AI219124 AA535522 BI910875 AA503222 CD365466 CK902345

AI075698 AI810383 BM873526 NM_016499 AI127346 BC011010 N36985 AF151078

AA970897 AW152463 BM464421 BQ786894 BX281330 Z41702 BQ774010 BE909545

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAACTAACTT

About this image
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 Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM216 Browse OriGene validated miRNA SYBR primer pairs
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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 7/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem216^{1 , 5}	transmembrane protein 216^{1, 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	--	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	--	30(a)	1 → many	II(6218588-6219480)

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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73492397^1,2	C	--	57485750(+)	`ACTACT/GTAACA`	2	--	us2k¹		2		WA	120
rs79753212^1,2		--	57486445(+)	`TAGTGG/AGAGGC`	3	--	us2k¹		1		EA	120
rs72929132^1,2	C	--	57486451(+)	`GAGGCA/CTTCTA`	3	--	us2k¹		0	--	--	--	--
rs74436441^1,2	C	--	57486826(+)	`GATAGC/AGCCAT`	3	--	us2k¹		2		WA	120
rs78053849^1,2	F	--	57487459(+)	`TTGTCC/TTCTCA`	3	--	us2k¹		1		NA	120
rs59493015^1,2	F	--	57487968(+)	`CGCTGC/GTCCGG`	3	--	ut5¹		1		WA	118
rs7107543^1,2	C,F,H	--	57487990(+)	`GCAGCG/TTATGC`	3	--	ut5¹ ese³		13		NS EA NA WA CSA	1214
rs11827662^1,2	C,F,H	--	57489414(+)	`AGTACA/GTAACC`	3	--	int¹		15		NS EA NA WA CSA	1216
rs114242259^1,2	C,F	--	57489650(+)	`CTCCAC/TGTCAG`	3	--	int¹		1		WA	118
rs200622128^1,2	C	--	57489735(+)	`TTTTTG/TTTTTT`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TMEM216 (61159159 - 61166335 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TMEM216: --
Human Gene Mutation Database (HGMD): TMEM216

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

TMEM216 for disorders           About GeneDecksing

OMIM gene information: 613277
OMIM disorders: 608091
UniProtKB/Swiss-Prot: TM216_HUMAN, Q9P0N5

Defects in TMEM216 are a cause of Joubert syndrome type 2 (JBTS2) [MIM:608091]. JBTS2 is 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

Defects in TMEM216 are the cause of Meckel syndrome type 2 (MKS2) [MIM:603194]. It is a form of Meckel

syndrome, an autosomal recessive disorder. It is 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

16 diseases for TMEM216: About MalaCards

meckel syndrome type 2 joubert syndrome 2 joubert syndrome meckel syndrome

oculomotor apraxia senior-loken syndrome encephalocele encephaloceles

apraxia patau syndrome cerebellar ataxia nephronophthisis

polydactyly ataxia hypotonia hepatitis

5 diseases from the University of Copenhagen DISEASES database for TMEM216:

Polydactyly Nephronophthisis Seckel syndrome Apraxia

DOID:4019

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

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)
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)
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)
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PubMed id 22282472)^{1, 2} Lee J.H.... Gleeson J.G. (2012)
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (PubMed id 22425360)² Srour M....Michaud J.L. (2012)
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)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)² Taylor T.D....Sakaki Y. (2006)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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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,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TMEM216	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM216 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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TMEM216 Gene

transmembrane protein 216

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TMEM216 Gene

transmembrane protein 216

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