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TMEM216 cdna clone

Scan QR to view Datasheet Catalog #    MBS1266744 TMEM216 cdna clone
Unit / Price
0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

TMEM216, cDNA Clone

 Also Known As   

TMEM216 cDNA Clone

 Product Gene Name   

TMEM216 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    atgctcctcc tttatcttgg aattgaagta attcgcctgt tttttggtac aaagggaaac ctctgccagc gaaagatgcc actcagtatt agcgtggcct tgaccttccc atctgccatg atggcctcct attacctgct gctgcagacc tacgtactcc gcctggaagc catcatgaat ggcatcttgc tcttcttctg tggctcagag cttttacttg aggtgctcac cttggctgct ttctccagta tggacacgat ttga
 OMIM    603194
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 Vector    pENTR223.1 or pUC
 Clone Sequence Report    Provided with product shipment
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of TMEM216 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for TMEM216. It may not necessarily be applicable to this product.
 NCBI GI #    15029611
 NCBI GeneID    51259
 NCBI Accession #    BC011010 [Other Products]
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 UniProt Secondary Accession #    A8MZ23; B7Z8N1 [Other Products]
 UniProt Related Accession #    Q9P0N5 [Other Products]
 Molecular Weight    16,820 Da
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 NCBI Official Full Name    Homo sapiens transmembrane protein 216, mRNA
 NCBI Official Synonym Full Names    transmembrane protein 216
 NCBI Official Symbol    TMEM216 [Similar Products]
 NCBI Official Synonym Symbols   
[Similar Products]
 NCBI Protein Information    transmembrane protein 216
 UniProt Protein Name    Transmembrane protein 216
 Protein Family    Transmembrane protein
 UniProt Gene Name    TMEM216 [Similar Products]
 UniProt Entry Name    TM216_HUMAN
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 NCBI 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]
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 UniProt Comments for TMEM216    TMEM216: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Defects in TMEM216 are a cause of Joubert syndrome type 2 (JBTS2). 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). 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. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11q13.1

Cellular Component: cilium; cytosol

Biological Process: cilium biogenesis

Disease: Joubert Syndrome 2; Meckel Syndrome, Type 2
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 Research Articles on TMEM216    1. study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with TMEM216 cdna cloneDiseases associated with TMEM216 cdna clone
 Products by Pathway  Pathway Diagram
 D-myo-inositol (1,4,5)-trisphosphate Biosynthesis Pathway antibodies  D-myo-inositol (1,4,5)-trisphosphate Biosynthesis Pathway Diagram
 D-myo-inositol-5-phosphate Metabolism Pathway antibodies  D-myo-inositol-5-phosphate Metabolism Pathway Diagram
 Phospholipases Pathway antibodies  Phospholipases Pathway Diagram
 Superpathway Of Inositol Phosphate Compounds antibodies  Superpathway Of Inositol Phosphate Compounds Diagram
 Disease Name  Pubmed Publications
 Congenital Abnormalities Antibodies  >7 publications with TMEM216 and Congenital Abnormalities
 Nervous System Diseases Antibodies  >7 publications with TMEM216 and Nervous System Diseases
 Joubert syndrome 2 Antibodies  >3 publications with TMEM216 and Joubert syndrome 2
 Fibrosis Antibodies  >2 publications with TMEM216 and Fibrosis
Organs/Tissues associated with TMEM216 cdna clone
 Organ/Tissue Name  Pubmed Publications
 Kidney Antibodies  >7 publications with TMEM216 and Kidney
 Eye Antibodies  >5 publications with TMEM216 and Eye
 Brain Antibodies  >2 publications with TMEM216 and Brain
 Embryonic Tissue Antibodies  >1 publications with TMEM216 and Embryonic Tissue
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