TTC21B (tetratricopeptide repeat domain 21B)

2014-11-01  

Identity

HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
ATD4,FAP60,FLA17,IFT139,IFT139B,JBTS11,NPHP12,Nbla10696,SRTD4,THM1
FUSION GENES

Other Information

Locus ID:

NCBI: 79809
MIM: 612014
HGNC: 25660
Ensembl: ENSG00000123607

Variants:

dbSNP: 79809
ClinVar: 79809
TCGA: ENSG00000123607
COSMIC: TTC21B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123607ENST00000243344Q7Z4L5
ENSG00000123607ENST00000392695H9KV93
ENSG00000123607ENST00000652557A0A494C0N4

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212583412011TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.153
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
248761162014A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.30
269401252017Contribution of the TTC21B gene to glomerular and cystic kidney diseases.10
269255472016Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?6
281244832018Mutations in TTC21B cause different phenotypes in two childhood cases in China.5

Citation

Dessen P

TTC21B (tetratricopeptide repeat domain 21B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75272/ttc21b