Tetratricopeptide repeat domain 21b

Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.[5]

TTC21B
Identifiers
AliasesTTC21B, ATD4, IFT139, JBTS11, NPHP12, SRTD4, THM1, Nbla10696, IFT139B, tetratricopeptide repeat domain 21B, FAP60, FLA17
External IDsOMIM: 612014 MGI: 1920918 HomoloGene: 57006 GeneCards: TTC21B
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q24.3Start165,857,475 bp[1]
End165,953,816 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 2: 66.18 – 66.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000123607 - Ensembl, May 2017
  2. 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.
  5. "Entrez Gene: Tetratricopeptide repeat domain 21B". Retrieved 2018-10-23.

Further reading


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

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