Aliases for IFT122 Gene
Aliases for IFT122 Gene
External Ids for IFT122 Gene
- HGNC: 13556
- NCBI Gene: 55764
- Ensembl: ENSG00000163913
- OMIM®: 606045
- UniProtKB/Swiss-Prot: Q9HBG6
Previous HGNC Symbols for IFT122 Gene
- WDR10
Previous GeneCards Identifiers for IFT122 Gene
- GC03P130642
- GC03P129158
- GC03P126542
- GC03P129440
- GC03P133056
- GC03P133386
- GC03P133834
- GC03P134214
- GC03P134602
- GC03P134989
- GC03P135373
- GC03P135770
- GC03P136172
- GC03P136808
- GC03P137425
Summaries for IFT122 Gene
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This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
GeneCards Summary for IFT122 Gene
IFT122 (Intraflagellar Transport 122) is a Protein Coding gene. Diseases associated with IFT122 include Cranioectodermal Dysplasia 1 and Cranioectodermal Dysplasia. Among its related pathways are Signaling by Hedgehog and Organelle biogenesis and maintenance.
UniProtKB/Swiss-Prot Summary for IFT122 Gene
As a 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), it is required in ciliogenesis and ciliary protein trafficking (PubMed:27932497, 29220510). Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity). ( IF122_HUMAN,Q9HBG6 )
Additional gene information for IFT122 Gene
- HGNC (13556)
- NCBI Gene (55764)
- Ensembl (ENSG00000163913)
- OMIM® (606045)
- UniProtKB/Swiss-Prot (Q9HBG6)
- Open Targets Platform(ENSG00000163913)
- Monarch Initiative
- Alliance of Genome Resources
- Search for IFT122 at DataMed
- Search for IFT122 at HumanCyc