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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
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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)

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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.

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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