Free for academic non-profit institutions. Other users need a Commercial license
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] See more...
Aliases for TMEM216 Gene
Aliases for TMEM216 Gene
External Ids for TMEM216 Gene
- HGNC: 25018
- NCBI Entrez Gene: 51259
- Ensembl: ENSG00000187049
- OMIM®: 613277
- UniProtKB/Swiss-Prot: Q9P0N5
Previous HGNC Symbols for TMEM216 Gene
- CORS2
- MKS2
Previous GeneCards Identifiers for TMEM216 Gene
- GC11P060918
- GC11P061159
- GC11P057487
Summaries 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. Among its related pathways are superpathway of inositol phosphate compounds and Organelle biogenesis and maintenance. An important paralog of this gene is TMEM80.
UniProtKB/Swiss-Prot Summary for TMEM216 Gene
-
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.
Additional gene information for TMEM216 Gene
- HGNC (25018)
- NCBI Entrez Gene (51259)
- Ensembl (ENSG00000187049)
- OMIM® (613277)
- UniProtKB/Swiss-Prot (Q9P0N5)
- Open Targets Platform(ENSG00000187049)
- Monarch Initiative
- Alliance of Genome Resources
- Search for TMEM216 at DataMed
- Search for TMEM216 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM216 Gene
Genomics for TMEM216 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TMEM216 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TMEM216 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM216
- Top Transcription factor binding sites by QIAGEN in the TMEM216 gene promoter:
-
- AML1a
- Bach1
- C/EBPalpha
- C/EBPbeta
- En-1
- IRF-2
- ISGF-3
- S8
- Zic3
- ZID
Genomic Locations for TMEM216 Gene
Latest Assembly
- chr11:61,392,360-61,398,863
- (GRCh38/hg38)
- Size:
- 6,504 bases
- Orientation:
- Plus strand
Previous Assembly
- chr11:61,160,059-61,166,318
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 6,260 bases
- Orientation:
- Plus strand
Genomic View for TMEM216 Gene
Genes around TMEM216 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.1 by HGNC
- 11q12.2 by Entrez Gene
- 11q12.2 by Ensembl
TMEM216 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with TMEM107.
- 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).
Post-translational modifications for TMEM216 Gene
No Post-translational modifications
Other Protein References for TMEM216 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
Protein products for research
-
OriGene Purified Proteins for TMEM216
- Search Origene for MassSpec and Protein Over-expression Lysates for TMEM216
- Origene Custom Protein Services for TMEM216
- Novus Biologicals lysates for TMEM216
Assay products for research
No data available for DME Specific Peptides for TMEM216 Gene
Domains & Families for TMEM216 Gene
Gene Families for TMEM216 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for TMEM216 Gene
- InterPro:
Suggested Antigen Peptide Sequences for TMEM216 Gene
- GenScript: Design optimal peptide antigens:
-
- Transmembrane protein 216 (TM216_HUMAN)
No data available for Graphical View of Domain Structure 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 From GWAS Catalog for TMEM216 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 26595381 |
Phenotypes for TMEM216 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TMEM216 - Starting at $85 >
- * TMEM216 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TMEM216
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM216
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM216
miRNA for TMEM216 Gene
- miRTarBase miRNAs that target TMEM216
-
- hsa-miR-3185 (MIRT647155)
- hsa-miR-4518 (MIRT647156)
- hsa-miR-1266-5p (MIRT647157)
- hsa-miR-3664-3p (MIRT647158)
- hsa-miR-449b-3p (MIRT647159)
- hsa-miR-6514-3p (MIRT663665)
- hsa-miR-7977 (MIRT663666)
- hsa-miR-5704 (MIRT663667)
- hsa-miR-24-3p (MIRT663668)
- hsa-miR-4284 (MIRT663669)
- hsa-miR-564 (MIRT663670)
- hsa-miR-6847-3p (MIRT663671)
- hsa-miR-6811-3p (MIRT663672)
- hsa-miR-214-5p (MIRT663673)
- hsa-miR-9-5p (MIRT663674)
- hsa-miR-383-3p (MIRT663675)
- hsa-miR-15a-3p (MIRT663676)
- hsa-miR-4717-5p (MIRT663677)
- hsa-miR-1273e (MIRT698224)
- hsa-miR-7160-5p (MIRT698225)
- hsa-miR-298 (MIRT698226)
- hsa-miR-6884-5p (MIRT698227)
- hsa-miR-485-5p (MIRT698228)
- hsa-miR-1827 (MIRT698229)
- hsa-miR-4649-3p (MIRT698230)
- hsa-miR-665 (MIRT698231)
- hsa-miR-4459 (MIRT698232)
- hsa-miR-6500-3p (MIRT698233)
- hsa-miR-3614-5p (MIRT698234)
- hsa-miR-4478 (MIRT698235)
- hsa-miR-3929 (MIRT698236)
- hsa-miR-4419b (MIRT698237)
- hsa-miR-6511a-5p (MIRT698238)
- hsa-miR-1910-3p (MIRT698239)
- hsa-miR-4695-5p (MIRT698240)
- hsa-miR-34b-3p (MIRT698241)
- hsa-miR-1321 (MIRT762520)
- hsa-miR-2467-3p (MIRT764143)
- hsa-miR-3162-5p (MIRT765165)
- hsa-miR-3612 (MIRT765958)
- hsa-miR-4257 (MIRT768179)
- hsa-miR-4739 (MIRT771846)
- hsa-miR-4756-5p (MIRT771985)
- hsa-miR-610 (MIRT775780)
- hsa-miR-650 (MIRT776716)
- hsa-miR-6760-5p (MIRT778459)
- hsa-miR-6807-5p (MIRT779622)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM216
- Browse OriGene Inhibitory RNA Products For TMEM216
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM216
Clone products for research
- Applied Biological Materials (abm): Clones for TMEM216 - Starting at $45 >
- * TMEM216 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TMEM216
- Addgene plasmids for TMEM216
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM216
Cell Lines for research
-
Horizon Cell Lines for TMEM216
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| cytosol | 4 |
| extracellular | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| nucleus | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005929 | cilium | IDA | 22282472 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM216 Gene
Pathways & Interactions for TMEM216 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | superpathway of inositol phosphate compounds | ||
| 2 | Organelle biogenesis and maintenance |
.56
|
|
| 3 | Regulation of PLK1 Activity at G2/M Transition | ||
| 4 | phospholipases |
.32
|
|
Pathways by source for TMEM216 Gene
4 BioSystems pathways for TMEM216 Gene
3 Reactome pathways for TMEM216 Gene
Interacting Proteins for TMEM216 Gene
GPS-Prot Interaction Network for TMEM216
| 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-plasma membrane docking | TAS | -- |
| GO:1905515 | non-motile cilium assembly | IBA | 21873635 |
No data available for SIGNOR curated interactions for TMEM216 Gene
Transcripts for TMEM216 Gene
mRNA/cDNA for TMEM216 Gene
- 4 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000334888 1306 nts (view in UCSC)
- ENST00000398979 908 nts (view in UCSC)
- ENST00000515837 1053 nts (view in UCSC)
- ENST00000541473 568 nts (view in UCSC)
- ENST00000544795 493 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TMEM216 - Starting at $85 >
- * TMEM216 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TMEM216
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM216
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM216
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM216
- Browse OriGene Inhibitory RNA Products For TMEM216
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM216
Clone products for research
- Applied Biological Materials (abm): Clones for TMEM216 - Starting at $45 >
- * TMEM216 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TMEM216
- Addgene plasmids for TMEM216
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM216
| 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
Expression for TMEM216 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM216
SOURCE GeneReport for Unigene cluster for TMEM216 Gene:
Hs.26745Evidence on tissue expression from TISSUES for TMEM216 Gene
- Nervous system(4.5)
- Kidney(4.4)
- Blood(4.2)
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
Regions:
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
Primer products for research
-
OriGene qPCR primer pairs for TMEM216
-
OriGene qPCR primer pairs and template standards for TMEM216
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TMEM216 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TMEM216 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TMEM216 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tmem216 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Tmem216 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM216 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | TMEM216 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TMEM216 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490116 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC555988 29 |
|
||
| TMEM216 30 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for TMEM216 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TMEM216: view image
- Alliance of Genome Resources:
- Additional Orthologs for TMEM216
Paralogs for TMEM216 Gene
Variants for TMEM216 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM216 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1024257 | Uncertain Significance: Joubert syndrome | 61,393,933(+) |
G/A NM_001173990.3(TMEM216):c.186G>A (p.Met62Ile) |
INITIATIOR_CODON_VARIANT,MISSENSE | |
| 1039650 | Uncertain Significance: Joubert syndrome | 61,397,764(+) |
T/C NM_001173990.3(TMEM216):c.230-10T>C |
INTRON | |
| 1041999 | Uncertain Significance: Joubert syndrome | 61,397,839(+) |
T/C NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro) |
MISSENSE | |
| 1042412 | Uncertain Significance: Joubert syndrome | 61,393,317(+) |
A/G NM_001173990.3(TMEM216):c.121A>G (p.Ile41Val) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 1046838 | Uncertain Significance: Joubert syndrome | 61,397,808(+) |
GC/AT NM_001173990.3(TMEM216):c.264_265delinsAT (p.Leu89Phe) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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)
Additional Variant Information for TMEM216 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM216 Gene
Disorders for TMEM216 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| joubert syndrome 2 |
|
|
| meckel syndrome, type 2 |
|
|
| arima syndrome |
|
|
| meckel syndrome, type 1 |
|
|
| orofaciodigital syndrome vi |
|
Search TMEM216 in MalaCards
View complete list of genes associated with diseases
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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for TMEM216
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for TMEM216 Gene
Publications for TMEM216 Gene
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. (PMID: 20512146) Valente EM … Gleeson JG (Nature genetics 2010) 2 3 4 72
- Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. (PMID: 20036350) Edvardson S … Elpeleg O (American journal of human genetics 2010) 2 3 4 72
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PMID: 22282472) Lee JH … Gleeson JG (Science (New York, N.Y.) 2012) 3 4 72
- 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 QH … Chen Z (Genome research 2000) 2 3 4
- TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. (PMID: 26595381) Lambacher NJ … Blacque OE (Nature cell biology 2016) 3 4
ExternalLinks
Products for TMEM216 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TMEM216
- Search Origene for MassSpec and Protein Over-expression Lysates for TMEM216
- Origene Custom Protein Services for TMEM216
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM216
- Browse OriGene Inhibitory RNA Products For TMEM216
- OriGene qPCR primer pairs for TMEM216
- OriGene qPCR primer pairs and template standards for TMEM216
- OriGene CRISPR knockouts for TMEM216
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TMEM216
- Sino Biological Human cDNA Clone for TMEM216
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals lysates for TMEM216
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- VectorBuilder Custom and pre-made DNA vectors for TMEM216 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TMEM216 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TMEM216 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TMEM216 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TMEM216
- Addgene plasmids for TMEM216
- Horizon Cell Lines for TMEM216
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM216
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM216
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TMEM216
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM216
Sources for TMEM216 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources