Homo sapiens Gene: TTC21B
Summary
InnateDB Gene IDBG-74123.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTC21B
Gene Name tetratricopeptide repeat domain 21B
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000123607
Encoded Proteins
tetratricopeptide repeat domain 21B
tetratricopeptide repeat domain 21B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 2:165857475-165953843
Strand Reverse strand
Band q24.3
Transcripts
ENST00000243344 ENSP00000243344
ENST00000392695 ENSP00000376460
ENST00000486672
ENST00000489714
ENST00000497425
ENST00000484129
ENST00000464374
ENST00000476227
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007224 smoothened signaling pathway
GO:0008589 regulation of smoothened signaling pathway
GO:0021591 ventricular system development
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0035721 intraciliary retrograde transport
GO:0035735 intraciliary transport involved in cilium morphogenesis
GO:0060271 cilium morphogenesis
GO:0061512 protein localization to cilium
Cellular Component
GO:0000790 nuclear chromatin
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0030991 intraciliary transport particle A
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by Hedgehog pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 79809
UniGene Hs.310672 Hs.617279 Hs.709870
RefSeq NM_024753
HUGO HGNC:25660
OMIM 612014
CCDS CCDS33315
HPRD 07752
IMGT
EMBL
GenPept
RNA Seq Atlas 100506124 79809