TTC21B Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | TTC21B |
| Official Name | tetratricopeptide repeat domain 21B [Source:HGNC Symbol;Acc:HGNC:25660] |
| Ensembl ID | ENSG00000123607 |
| Bio databases IDs | |
| Aliases | tetratricopeptide repeat domain 21B, intraflagellar transport 139 homolog, tetratricopeptide repeat-containing hedgehog modulator-1, Nephronophthisis type12 |
| Synonyms | 2410066K11Rik, aln, ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, LOC103690137, mKIAA1992, Nbla10696, NPHP12, RGD1565122, SRTD4, tetratricopeptide repeat domain 21B, THM1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TTC21B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TPR repeat
- Tetratricopeptide repeats
- chromatin binding
- putative PEP-CTERM system TPR-repeat lipoprotein
- protein binding
- tetratricopeptide repeat
Pathways
Biological processes and signaling networks where the TTC21B gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short rib-polydactyly syndrome type 4
- nephronophthisis type 12
- short-rib thoracic dysplasia type 6
- Jeune syndrome
- nephronophthisis
- hereditary disorder
- retinal dystrophy
- short-rib thoracic dysplasia type 4
- diabetic nephropathy
- TTC21B-related disorder
regulated by
- tetradecanoylphorbol acetate
- HeLa cells
- FAM3C
role in cell
- differentiation
- assembly
- assembly in
- intraciliary transport in
- length
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ciliary tip
- cilia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TTC21B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ventricular system development
- cilium morphogenesis
- cerebellar Purkinje cell differentiation
- positive regulation of gene expression
- Bergmann glial cell differentiation
- positive regulation of canonical Wnt receptor signaling pathway
- forebrain dorsal/ventral pattern formation
- smoothened signaling pathway
- intraflagellar retrograde transport
- regulation of smoothened signaling pathway
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- cilium
- intraflagellar transport particle A
Molecular Function
What the gene product does at the molecular level
- protein binding
- chromatin binding