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) 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 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 BioGPS n/a
Orthologs Databases NCBI: entry; OMA: entry 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].