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Ift52 intraflagellar transport 52 [ Mus musculus (house mouse) ]

Gene ID: 245866, updated on 4-May-2024

Summary

Official Symbol
Ift52provided by MGI
Official Full Name
intraflagellar transport 52provided by MGI
Primary source
MGI:MGI:2387217
See related
Ensembl:ENSMUSG00000017858 AllianceGenome:MGI:2387217
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
NGD5
Summary
Acts upstream of or within several processes, including embryonic morphogenesis; non-motile cilium assembly; and smoothened signaling pathway. Located in several cellular components, including ciliary base; ciliary tip; and microtubule organizing center. Part of intraciliary transport particle B. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human IFT52 (intraflagellar transport 52). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 14.3), bladder adult (RPKM 14.2) and 28 other tissues See more
Orthologs
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Genomic context

See Ift52 in Genome Data Viewer
Location:
2; 2 H2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (162859200..162888075)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (163017117..163046155)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene serum/glucocorticoid regulated kinase 2 Neighboring gene STARR-seq mESC enhancer starr_06293 Neighboring gene STARR-seq mESC enhancer starr_06295 Neighboring gene STARR-positive B cell enhancer ABC_E6013 Neighboring gene myeloblastosis oncogene-like 2 Neighboring gene STARR-seq mESC enhancer starr_06298 Neighboring gene microRNA 7003 Neighboring gene gametocyte specific factor 1-like

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Transgenic (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC47065

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within dorsal/ventral pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic digit morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within heart looping IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intraciliary anterograde transport ISO
Inferred from Sequence Orthology
more info
 
involved_in intraciliary anterograde transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within intraciliary transport IC
Inferred by Curator
more info
PubMed 
acts_upstream_of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neural tube formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of protein processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary base ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary tip IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium NAS
Non-traceable Author Statement
more info
PubMed 
located_in cilium TAS
Traceable Author Statement
more info
 
located_in dendrite terminus IDA
Inferred from Direct Assay
more info
PubMed 
part_of intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of intraciliary transport particle B IDA
Inferred from Direct Assay
more info
PubMed 
part_of intraciliary transport particle B ISO
Inferred from Sequence Orthology
more info
 
located_in photoreceptor cell cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor connecting cilium ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
intraflagellar transport protein 52 homolog
Names
intraflagellar transport 52 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001356522.1NP_001343451.1  intraflagellar transport protein 52 homolog

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK144188, BG083302
    Consensus CDS
    CCDS17005.1
    UniProtKB/Swiss-Prot
    Q3TK21, Q62559, Q8BTX3, Q8CI16
    Conserved Domains (1) summary
    cl23805
    Location:28116
    ABC_transp_aux; ABC-type uncharacterized transport system
  2. NM_172150.5NP_742162.2  intraflagellar transport protein 52 homolog

    See identical proteins and their annotated locations for NP_742162.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK167194, BG083302, BU850644
    Consensus CDS
    CCDS17005.1
    UniProtKB/Swiss-Prot
    Q3TK21, Q62559, Q8BTX3, Q8CI16
    Related
    ENSMUSP00000018002.7, ENSMUST00000018002.13
    Conserved Domains (1) summary
    cl23805
    Location:28116
    ABC_transp_aux; ABC-type uncharacterized transport system

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    162859200..162888075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_374472.5 RNA Sequence