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Transmembrane Protein 216 (TMEM216)

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CORS2; MKS2; JBTS2; Cerebello-Oculo-Renal Syndrome 2; Meckel Syndrome,Type 2

Transmembrane Protein 216 (TMEM216)
CCC K490
HGNC 25018
MGI 1920020
PubMed 20512146
RGD 1304607
UniProt Q9P0N5
Wiki TMEM216
By searching for genes in a region of chromosome 11 linked to Joubert syndrome-2 (JBTS2), Edvardson et al. (2010) identified TMEM216. The deduced 87-amino acid protein has 2 transmembrane domains.Edvardson et al. (2010) determined that the TMEM216 gene contains 3 coding exons.
By genomic sequence analysis, Edvardson et al. (2010) mapped the TMEM216 gene to chromosome 11q13.In 13 affected members of 8 Ashkenazi Jewish families with Joubert syndrome-2 (JBTS2), Edvardson et al. (2010) identified a homozygous mutation in the TMEM216 gene (R12L). The carrier rate in this ethnic group was determined to be 1 in 92.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transmembrane Protein 216 (TMEM216) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transmembrane Protein 216 (TMEM216) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transmembrane Protein 216 (TMEM216) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transmembrane Protein 216 (TMEM216) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transmembrane Protein 216 (TMEM216) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transmembrane Protein 216 (TMEM216) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transmembrane Protein 216 (TMEM216) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transmembrane Protein 216 (TMEM216) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transmembrane Protein 216 (TMEM216) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transmembrane Protein 216 (TMEM216) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transmembrane Protein 216 (TMEM216) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transmembrane Protein 216 (TMEM216) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transmembrane Protein 216 (TMEM216) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transmembrane Protein 216 (TMEM216) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transmembrane Protein 216 (TMEM216) ELISA Kit Customized Service Offer
  1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation."Am. J. Hum. Genet. 86:93-97(2010) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes." Nat. Genet. 42:619-625(2010) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Evolutionarily assembled cis-regulatory module at a human ciliopathy locus." Science 335:966-969(2012) [PubMed] [Europe PMC] [Abstract]