Tetratricopeptide repeat domain 21b

TTC21B
Identifiers
Aliases	TTC21B, ATD4, IFT139, JBTS11, NPHP12, SRTD4, THM1, Nbla10696, IFT139B, tetratricopeptide repeat domain 21B, FAP60, FLA17
External IDs	OMIM: 612014; MGI: 1920918; HomoloGene: 57006; GeneCards: TTC21B; OMA:TTC21B - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q24.3 Start 165,857,475 bp End 165,953,851 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 C1.3 Start 66,014,671 bp End 66,086,961 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube Achilles tendon cerebellar hemisphere sural nerve canal of the cervix gastrocnemius muscle body of pancreas ganglionic eminence gastric mucosa right lung Top expressed in spermatocyte seminiferous tubule spermatid superior cervical ganglion hand condyle medullary collecting duct fossa primitive streak trigeminal ganglion More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 79809 73668 Ensembl ENSG00000123607 ENSMUSG00000034848 UniProt Q7Z4L5 Q0HA38 RefSeq (mRNA) NM_024753 NM_001047604 NM_001290669 RefSeq (protein) NP_079029 NP_001041069 NP_001277598 Location (UCSC) Chr 2: 165.86 – 165.95 Mb Chr 2: 66.01 – 66.09 Mb PubMed search
Wikidata
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Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.

Function

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011].

Further reading

• Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F (February 2011). "Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy". J. Med. Genet. 48 (2): 105–16. doi:10.1136/jmg.2010.082552. PMC 3913043. PMID 21068128.
• Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N (March 2011). "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum". Nat. Genet. 43 (3): 189–96. doi:10.1038/ng.756. PMC 3071301. PMID 21258341.
• Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C (November 2014). "A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS". J. Am. Soc. Nephrol. 25 (11): 2435–43. doi:10.1681/ASN.2013101126. PMC 4214529. PMID 24876116.
• Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E (December 2016). "Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?". Clin. Genet. 90 (6): 540–544. doi:10.1111/cge.12764. PMID 26925547. S2CID 315377.
• Bullich G, Vargas I, Trujillano D, Mendizábal S, Piñero-Fernández JA, Fraga G, García-Solano J, Ballarín J, Estivill X, Torra R, Ars E (January 2017). "Contribution of the TTC21B gene to glomerular and cystic kidney diseases". Nephrol. Dial. Transplant. 32 (1): 151–156. doi:10.1093/ndt/gfv453. PMID 26940125.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.