TTC21B Chromosome 2
Tetratricopeptide repeat domain 21B
Upload your DNA to see your personal genotypes for variants in TTC21B.
What This Gene Does
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]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|IFT-A complex"
Locus Type
gene with protein product
Location
2q24.3
Ensembl
ENSG00000123607
Associated Conditions (24)
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
Connective tissue disorder
TTC21B-related disorder
Inborn genetic diseases
Joubert syndrome 1
Chronic kidney disease
Malignant tumor of esophagus
Nephrotic syndrome
Sarcoma
Meckel-Gruber-like syndrome
Short-rib thoracic dysplasia 6 with or without polydactyly
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY
Bardet-Biedl syndrome 2
Finnish congenital nephrotic syndrome
Infantile nephronophthisis
Renal dysplasia and retinal aplasia
Retinal dystrophy
+4 more conditions
Key Variants
RS114725374
Conflicting classifications of pathogenicity
Nephronophthisis 12, Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy
Health Risk
RS115504901
Conflicting classifications of pathogenicity
Nephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis
Health Risk
RS1305905662
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12
Health Risk
RS138294801
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy
Health Risk
RS139441507
Conflicting classifications of pathogenicity
Nephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis
Health Risk
RS139537546
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Nephronophthisis, TTC21B-related disorder
Health Risk
RS139653847
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12
Health Risk
RS140323384
Conflicting classifications of pathogenicity
Nephronophthisis 12, Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy
Health Risk
RS140384742
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 4, Nephronophthisis, Jeune thoracic dystrophy
Health Risk
RS140757802
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Nephronophthisis, TTC21B-related disorder
Health Risk
RS140824612
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Nephronophthisis, Inborn genetic diseases
Health Risk
RS140899101
Conflicting classifications of pathogenicity
Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis 12
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2468219408 | Health Risk | Likely pathogenic | Nephronophthisis 12, Nephronophthisis 12 |
| RS368907623 | Health Risk | Likely pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS371396651 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS748598334 | Health Risk | Likely pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS749330118 | Health Risk | Likely pathogenic | Nephronophthisis 12, TTC21B-related disorder, Nephronophthisis 12 |
| RS759648976 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS760214276 | Health Risk | Likely pathogenic | Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy, Nephronophthisis |
| RS764514397 | Health Risk | Likely pathogenic | Asphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis |
| RS773008707 | Health Risk | Likely pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS776301212 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4 |
| RS779472675 | Health Risk | Likely pathogenic | Asphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis |
| RS1168548075 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1241301882 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1264683917 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1409684471 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS1451904718 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1455507192 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1489728717 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1553506530 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS1553516241 | Health Risk | Pathogenic | SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY |
| RS1559053862 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS1559075003 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1685569880 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1686210975 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1686809735 | Health Risk | Pathogenic | Nephronophthisis 12, Nephronophthisis 12 |
| RS1686811023 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS1686814382 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12 |
| RS185089786 | Health Risk | Pathogenic | Asphyxiating thoracic dystrophy 4, Nephronophthisis, Jeune thoracic dystrophy |
| RS199559023 | Health Risk | Pathogenic | Nephronophthisis 12, Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy |
| RS2105291679 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2105291727 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS2105291970 | Health Risk | Pathogenic | Asphyxiating thoracic dystrophy 4, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4 |
| RS2105291990 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2105292022 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS2105292027 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS2105324384 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2105343139 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2105344578 | Health Risk | Pathogenic | Nephronophthisis, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12 |
| RS2105344608 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2468104296 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2468109460 | Health Risk | Pathogenic | — |
| RS2468109553 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2468144479 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS2468165481 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2468169471 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2468176254 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2468180880 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |
| RS2468197337 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS2468212127 | Health Risk | Pathogenic | Nephronophthisis, Jeune thoracic dystrophy, Nephronophthisis |
| RS2468212452 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Nephronophthisis, Jeune thoracic dystrophy |