help  | about  | cite  | software

Gene : IFT122 Homo sapiens

Name  ? intraflagellar transport 122 Cytological Location  3q21.3-q22.1
Brief Description  intraflagellar transport 122
description  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]
  • synonyms:
  • WD repeat domain 10,
  • SPG,
  • WDR10p,
  • intraflagellar transport 122 homolog (Chlamydomonas),
  • IFT122,
  • WDR10,
  • HGNC:13556,
  • SPG,
  • OTTHUMG00000159516,
  • WDR140,
  • NM_018262,
  • WDR140,
  • CED1,
  • CED,
  • WDR10,
  • uc003emm.5,
  • WDR10p,
  • AF244930
  • identifiers:
  • 55764,
  • ENSG00000163913,
  • IFT122

Genome feature

Region: gene ? Length: 80472  
Location: 3:129440036-129520507 Cyto location: 3q21.3-q22.1

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer

Gene --> Orthologues


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3756 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results