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    IFT52 intraflagellar transport 52 [ Homo sapiens (human) ]

    Gene ID: 51098, updated on 4-Jan-2025

    Summary

    Official Symbol
    IFT52provided by HGNC
    Official Full Name
    intraflagellar transport 52provided by HGNC
    Primary source
    HGNC:HGNC:15901
    See related
    Ensembl:ENSG00000101052 MIM:617094; AllianceGenome:HGNC:15901
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NGD2; NGD5; CGI-53; C20orf9
    Summary
    This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in testis (RPKM 15.9), thyroid (RPKM 13.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IFT52 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (43590937..43647299)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (45324139..45380495)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42219577..42275939)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene L3MBTL histone methyl-lysine binding protein 1 Neighboring gene transmembrane protein 14C-like Neighboring gene ReSE screen-validated silencer GRCh37_chr20:42173308-42173524 Neighboring gene serum/glucocorticoid regulated kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42236005-42236846 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:42266543-42266756 Neighboring gene uncharacterized LOC124904906 Neighboring gene ribosomal protein L27a pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ40284

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables protein binding  
    Process Evidence Code Pubs
    involved_in cilium assembly  
    involved_in cilium assembly PubMed 
    involved_in cilium assembly PubMed 
    involved_in dorsal/ventral pattern formation  
    involved_in embryonic digit morphogenesis  
    involved_in heart looping  
    involved_in intraciliary anterograde transport PubMed 
    involved_in intraciliary anterograde transport PubMed 
    involved_in intraciliary transport  
    involved_in keratinocyte proliferation  
    involved_in negative regulation of keratinocyte proliferation  
    involved_in neural tube formation  
    involved_in non-motile cilium assembly  
    involved_in regulation of protein processing  
    involved_in smoothened signaling pathway  
    Component Evidence Code Pubs
    is_active_in centriole  
    located_in centrosome  
    located_in ciliary basal body  
    located_in ciliary base PubMed 
    located_in ciliary tip  
    is_active_in cilium  
    located_in cilium PubMed 
    located_in cilium  
    located_in dendrite terminus  
    part_of intraciliary transport particle B  
    part_of intraciliary transport particle B PubMed 
    part_of intraciliary transport particle B  
    located_in motile cilium  
    located_in photoreceptor connecting cilium PubMed 

    General protein information

    Preferred Names
    intraflagellar transport protein 52 homolog
    Names
    protein NGD5 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_051913.1 RefSeqGene

      Range
      5325..61687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303458.3NP_001290387.1  intraflagellar transport protein 52 homolog isoform 1

      See identical proteins and their annotated locations for NP_001290387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF151811, AI819589, AL121886, BC039831, BP308189, DC358472
      Consensus CDS
      CCDS33470.1
      UniProtKB/Swiss-Prot
      B3KMA1, E1P5W9, Q5H8Z0, Q9H1G3, Q9H1G4, Q9H1H2, Q9Y366
      Related
      ENSP00000362130.4, ENST00000373039.4
      Conserved Domains (1) summary
      cl23805
      Location:2116
      ABC_transp_aux; ABC-type uncharacterized transport system
    2. NM_001303459.3NP_001290388.1  intraflagellar transport protein 52 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter C-terminus than isoform 1.
      Source sequence(s)
      AI819589, AL121886, Z98752
      Conserved Domains (1) summary
      cl23805
      Location:17116
      ABC_transp_aux; ABC-type uncharacterized transport system
    3. NM_001323578.2NP_001310507.1  intraflagellar transport protein 52 homolog isoform 4

      Status: REVIEWED

      Source sequence(s)
      AI819589, AL121886, Z98752
    4. NM_001323579.2NP_001310508.1  intraflagellar transport protein 52 homolog isoform 5

      Status: REVIEWED

      Source sequence(s)
      AI819589, AL121886, Z98752
    5. NM_001323580.2NP_001310509.1  intraflagellar transport protein 52 homolog isoform 4

      Status: REVIEWED

      Source sequence(s)
      AI819589, AL121886, Z98752
    6. NM_001323581.2NP_001310510.1  intraflagellar transport protein 52 homolog isoform 5

      Status: REVIEWED

      Source sequence(s)
      AI819589, AL121886, Z98752
    7. NM_016004.5NP_057088.2  intraflagellar transport protein 52 homolog isoform 1

      See identical proteins and their annotated locations for NP_057088.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AI819589, AL121886, BC039831, BP308189, DC358472
      Consensus CDS
      CCDS33470.1
      UniProtKB/Swiss-Prot
      B3KMA1, E1P5W9, Q5H8Z0, Q9H1G3, Q9H1G4, Q9H1H2, Q9Y366
      Related
      ENSP00000362121.3, ENST00000373030.8
      Conserved Domains (1) summary
      cl23805
      Location:2116
      ABC_transp_aux; ABC-type uncharacterized transport system

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      43590937..43647299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      45324139..45380495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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