TTC21B
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TTC21B (HGNC:25660) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tetratricopeptide repeat domain 21B
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ11457, JBTS11, NPHP12, IFT139B, THM1, FAP60, FLA17, IFT139, CFAP60
%HI
30.49(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.83(Read more about gnomAD LOEUF score)
Cytoband
2q24.3
Genomic Coordinates
GRCh37/hg19: chr2:166729872-166810286 NCBI Ensembl UCSC
GRCh38/hg38: chr2:165873362-165953776 NCBI Ensembl UCSC
MANE Select Transcript
NM_024753.5 ENST00000243344.8 (Read more about MANE Select)
Function
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs). Essential for retrograde trafficking of IFT- 1, IFT-B and GPCRs (PubMed:27932497). Negatively modulates the SHH signal transduction (By similarity). {ECO:0000250|UniProtKB:Q0HA38, ECO:0000269|PubMed:27932497}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8812
ClinGen Curation ID:
CCID:008059
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Biallelic variants in the TTC21B gene have been associated with the diseases Nephronophthisis 12 and Short-rib thoracic dysplasia 4 with or without polydactyly in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, Nephronophthisis MONDO:0013442, has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)