Seroatlas · Human Serome Atlas

IFT52

Intraflagellar transport protein 52 homolog

Also known as: C20orf9, CGI-53, dJ1028D15.1, IFT52_HUMAN, NGD2, NGD5

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y366
Gene
IFT52
Ensembl
ENSG00000101052
Chromosome
20
Canonical length
437 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Microtubules,Primary cilium,Basal body,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

437 residues, UniProt reviewed canonical sequence.

>Q9Y366|IFT52
     1  MEKELRSTIL FNAYKKEIFT TNNGYKSMQK KLRSNWKIQS LKDEITSEKL NGVKLWITAG
    61  PREKFTAAEF EILKKYLDTG GDVFVMLGEG GESRFDTNIN FLLEEYGIMV NNDAVVRNVY
   121  HKYFHPKEAL VSSGVLNREI SRAAGKAVPG IIDEESSGNN AQALTFVYPF GATLSVMKPA
   181  VAVLSTGSVC FPLNRPILAF YHSKNQGGKL AVLGSCHMFS DQYLDKEENS KIMDVVFQWL
   241  TTGDIHLNQI DAEDPEISDY MMLPYTATLS KRNRECLQES DEIPRDFTTL FDLSIFQLDT
   301  TSFHSVIEAH EQLNVKHEPL QLIQPQFETP LPTLQPAVFP PSFRELPPPP LELFDLDETF
   361  SSEKARLAQI TNKCTEEDLE FYVRKCGDIL GVTSKLPKDQ QDAKHILEHV FFQVVEFKKL
   421  NQEHDIDTSE TAFQNNF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IFT52 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
40 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 40 nTPM
  • fallopian tube: 36 nTPM
  • testis: 30 nTPM
  • thyroid gland: 29 nTPM
  • bone marrow: 28 nTPM
  • cervix: 28 nTPM

Single-cell type

  • respiratory ciliated cells: 111 nCPM
  • late primary spermatocytes: 109 nCPM
  • fallopian tube ciliated cells: 105 nCPM
  • ependymal cells: 73 nCPM
  • early spermatids: 68 nCPM
  • choroid plexus epithelial cells: 67 nCPM

Immune cell

  • myeloid DC: 28 nTPM
  • non-classical monocyte: 26 nTPM
  • classical monocyte: 22 nTPM
  • plasmacytoid DC: 22 nTPM
  • intermediate monocyte: 21 nTPM
  • T-reg: 19 nTPM

Brain region

  • choroid plexus: 14 nTPM
  • white matter: 14 nTPM
  • hypothalamus: 14 nTPM
  • spinal cord: 12 nTPM
  • medulla oblongata: 11 nTPM
  • midbrain: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IFT52.

Disease | AllUniProt

Conditions IFT52 is implicated in, by any mechanism.

  • Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) MIM:617102

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 247 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.87
gnomAD pLI
0
gnomAD missense Z
1.44
DepMap mean gene effect
0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Intraflagellar transport protein 52 homolog
  • Intraflagellar transport protein 52, C-terminal domain
  • IFT52, GIFT domain
  • IFT52, central domain
  • Intraflagellar transport protein 52, C-terminal domain
  • IFT52 central domain
  • IFT52 GIFT domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IFT52 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads IFT52 as an antibody target. Whether an autoantibody or antibody against IFT52 could matter depends on whether native IFT52 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IFT52 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label IFT52 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/IFT52. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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