Identity
HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
ATD4,FAP60,FLA17,IFT139,IFT139B,JBTS11,NPHP12,Nbla10696,SRTD4,THM1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79809
MIM: 612014
HGNC: 25660
Ensembl: ENSG00000123607
Variants:
dbSNP: 79809
ClinVar: 79809
TCGA: ENSG00000123607
COSMIC: TTC21B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000123607 | ENST00000243344 | Q7Z4L5 |
| ENSG00000123607 | ENST00000392695 | H9KV93 |
| ENSG00000123607 | ENST00000652557 | A0A494C0N4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38439578 | 2024 | Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants. | 1 |
| 38439578 | 2024 | Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants. | 1 |
| 35695966 | 2023 | Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. | 1 |
| 35695966 | 2023 | Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. | 1 |
| 36273201 | 2022 | Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. | 3 |
| 36273201 | 2022 | Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. | 3 |
| 33547761 | 2021 | A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. | 4 |
| 33599192 | 2021 | Retinal dystrophy as part of TTC21B-associated ciliopathy. | 1 |
| 33547761 | 2021 | A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. | 4 |
| 33599192 | 2021 | Retinal dystrophy as part of TTC21B-associated ciliopathy. | 1 |
| 28124483 | 2018 | Mutations in TTC21B cause different phenotypes in two childhood cases in China. | 12 |
| 28124483 | 2018 | Mutations in TTC21B cause different phenotypes in two childhood cases in China. | 12 |
| 26940125 | 2017 | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 23 |
| 26940125 | 2017 | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 23 |
| 26925547 | 2016 | Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome? | 11 |
Citation
Dessen P
TTC21B (tetratricopeptide repeat domain 21B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75272/chromosome-explorer/new-content/
