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; GeneCards: TTC21B
Gene location (Human)
Chr.	Chromosome 2 (human)
End	165,953,851 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	66,086,961 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; Achilles tendon; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; sural nerve; ; testicle; ; ventricular zone; ; canal of the cervix; ; left ovary; ; right ovary;
	Top expressed in
	spermatocyte; ; seminiferous tubule; ; spermatid; ; superior cervical ganglion; ; hand; ; condyle; ; medullary collecting duct; ; genital tubercle; ; tail of embryo; ; fossa;
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	79809
	73668
	ENSG00000123607
	ENSMUSG00000034848
	Q7Z4L5
	Q0HA38
	NM_024753
	NM_001047604; NM_001290669
	NP_079029
	NP_001041069; NP_001277598
	Wikidata
View/Edit Human	View/Edit Mouse

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].

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000123607 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034848 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Tetratricopeptide repeat domain 21B". Retrieved 2018-10-23.

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 on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.

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

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000123607 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034848 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Tetratricopeptide repeat domain 21B". Retrieved 2018-10-23.

Tetratricopeptide repeat domain 21B

Function

References

Further reading