Details for: IFT52

Gene ID: 51098

Symbol: IFT52

Ensembl ID: ENSG00000101052

Description: intraflagellar transport 52

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 147.5455
    Cell Significance Index: -22.9500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 94.7787
    Cell Significance Index: -24.0400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 68.2126
    Cell Significance Index: -28.1000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 60.9799
    Cell Significance Index: -28.7900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 52.7620
    Cell Significance Index: -27.1400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 42.9643
    Cell Significance Index: -28.8300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.6401
    Cell Significance Index: -23.5300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.5661
    Cell Significance Index: -26.5900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.3734
    Cell Significance Index: -25.1100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.1464
    Cell Significance Index: -28.2000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.3147
    Cell Significance Index: 90.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0761
    Cell Significance Index: 215.8700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.9851
    Cell Significance Index: 20.6200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8559
    Cell Significance Index: 169.8500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7911
    Cell Significance Index: 92.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7826
    Cell Significance Index: 706.6500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.7552
    Cell Significance Index: 8.2100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6961
    Cell Significance Index: 41.7900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6529
    Cell Significance Index: 451.5900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6343
    Cell Significance Index: 68.9900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5814
    Cell Significance Index: 208.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5606
    Cell Significance Index: 76.9900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4986
    Cell Significance Index: 81.0900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3738
    Cell Significance Index: 12.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3719
    Cell Significance Index: 203.1100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.3248
    Cell Significance Index: 4.1600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3206
    Cell Significance Index: 17.9900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2863
    Cell Significance Index: 17.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2761
    Cell Significance Index: 49.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2491
    Cell Significance Index: 16.0700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2398
    Cell Significance Index: 30.7400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2392
    Cell Significance Index: 1.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2358
    Cell Significance Index: 28.9900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2328
    Cell Significance Index: 102.9100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.2282
    Cell Significance Index: 5.8300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1993
    Cell Significance Index: 4.2600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1983
    Cell Significance Index: 23.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1893
    Cell Significance Index: 11.9300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1702
    Cell Significance Index: 1.4300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1664
    Cell Significance Index: 4.3800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1526
    Cell Significance Index: 4.0900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1519
    Cell Significance Index: 7.8900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0695
    Cell Significance Index: 1.5100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0555
    Cell Significance Index: 1.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0554
    Cell Significance Index: 5.4800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0508
    Cell Significance Index: 1.4200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0504
    Cell Significance Index: 3.5700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0420
    Cell Significance Index: 7.1700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0360
    Cell Significance Index: 67.8500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0293
    Cell Significance Index: 5.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0223
    Cell Significance Index: 2.8800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0163
    Cell Significance Index: 1.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0153
    Cell Significance Index: 23.5000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0123
    Cell Significance Index: 7.8000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0107
    Cell Significance Index: 19.7400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0087
    Cell Significance Index: 0.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0060
    Cell Significance Index: 0.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0021
    Cell Significance Index: 0.0400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0030
    Cell Significance Index: -0.2300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0052
    Cell Significance Index: -7.0800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0091
    Cell Significance Index: -0.6100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0117
    Cell Significance Index: -0.2000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0119
    Cell Significance Index: -7.4500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0129
    Cell Significance Index: -5.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0144
    Cell Significance Index: -10.6500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0229
    Cell Significance Index: -16.7900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0256
    Cell Significance Index: -19.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0288
    Cell Significance Index: -1.2800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0350
    Cell Significance Index: -19.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0391
    Cell Significance Index: -5.6800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0433
    Cell Significance Index: -4.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0727
    Cell Significance Index: -3.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0830
    Cell Significance Index: -17.4800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0832
    Cell Significance Index: -23.9300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0898
    Cell Significance Index: -3.4000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1026
    Cell Significance Index: -2.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1033
    Cell Significance Index: -11.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1150
    Cell Significance Index: -4.0400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1449
    Cell Significance Index: -6.8100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1460
    Cell Significance Index: -3.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1868
    Cell Significance Index: -9.8100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2440
    Cell Significance Index: -27.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2475
    Cell Significance Index: -25.7700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2664
    Cell Significance Index: -5.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2864
    Cell Significance Index: -7.1600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2866
    Cell Significance Index: -22.7000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3585
    Cell Significance Index: -21.9800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3957
    Cell Significance Index: -11.6200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3993
    Cell Significance Index: -4.7600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4041
    Cell Significance Index: -10.7900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4204
    Cell Significance Index: -11.2500
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.4227
    Cell Significance Index: -2.6200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4251
    Cell Significance Index: -12.1300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4379
    Cell Significance Index: -22.8100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4400
    Cell Significance Index: -11.3100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4530
    Cell Significance Index: -14.5100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4552
    Cell Significance Index: -12.3900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4572
    Cell Significance Index: -13.1100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4716
    Cell Significance Index: -15.0200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4808
    Cell Significance Index: -15.7400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** IFT52 is a member of the IFT complex, which consists of at least five subunits, including IFT52. The IFT complex is responsible for the bidirectional movement of cilia and flagella, ensuring proper ciliary function and maintaining cellular homeostasis. IFT52 has been identified in various cell types, including polychromatophilic erythroblasts, hematopoietic oligopotent progenitor cells, and ciliated cells of the bronchus. Its expression is also observed in embryonic stem cells and smooth muscle fibers of the ileum. **Pathways and Functions:** IFT52 is involved in several key pathways, including: 1. **Intraflagellar Transport (IFT):** IFT52 is a crucial component of the IFT complex, responsible for the bidirectional movement of cilia and flagella. 2. **Cell Proliferation and Differentiation:** IFT52 regulates keratinocyte proliferation, indicating its role in cell growth and differentiation. 3. **Signaling by Hedgehog:** IFT52 interacts with the Hedgehog signaling pathway, suggesting its involvement in developmental processes and tissue patterning. 4. **Regulation of Protein Processing:** IFT52 is involved in the regulation of protein processing, which is essential for maintaining cellular homeostasis. 5. **Smoothened Signaling Pathway:** IFT52 is a part of the Smoothened signaling pathway, which plays a critical role in Hedgehog signaling and development. **Clinical Significance:** Dysregulation of IFT52 has been implicated in various diseases, including: 1. **Polycystic Kidney Disease (PKD):** Mutations in IFT52 have been associated with PKD, a genetic disorder characterized by the growth of cysts in the kidneys. 2. **Keratinocyte Proliferation Disorders:** Abnormalities in IFT52 expression have been linked to keratinocyte proliferation disorders, such as epidermolysis bullosa simplex. 3. **Hedgehog-Related Cancers:** IFT52 has been identified as a potential therapeutic target in Hedgehog-related cancers, such as medulloblastoma and basal cell carcinoma. In conclusion, IFT52 is a vital gene that plays a multifaceted role in intraflagellar transport, cell proliferation, differentiation, and signaling pathways. Further research is necessary to fully elucidate the functions of IFT52 and its implications in human disease.

Genular Protein ID: 3945487980

Symbol: IFT52_HUMAN

Name: Intraflagellar transport protein 52 homolog

UniProtKB Accession Codes:

Q9Y366 B3KMA1 E1P5W9 Q5H8Z0 Q9H1G3 Q9H1G4 Q9H1H2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 GO 22 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 25860617

Title: Characterization of tetratricopeptide repeat-containing proteins critical for cilia formation and function.

PubMed ID: 25860617

DOI: 10.1371/journal.pone.0124378

PubMed ID: 26880018

Title: A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

PubMed ID: 26880018

DOI: 10.1111/cge.12762

PubMed ID: 27466190

Title: IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

PubMed ID: 27466190

DOI: 10.1093/hmg/ddw241

PubMed ID: 30929735

Title: Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and mice.

PubMed ID: 30929735

DOI: 10.1016/j.ajhg.2019.02.020

PubMed ID: 31637240

Title: SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.

PubMed ID: 31637240

DOI: 10.3389/fcell.2019.00216

Sequence Information:

  • Length: 437
  • Mass: 49706
  • Checksum: A388E242BDA238A0
  • Sequence:
    • MEKELRSTIL FNAYKKEIFT TNNGYKSMQK KLRSNWKIQS LKDEITSEKL NGVKLWITAG 
PREKFTAAEF EILKKYLDTG GDVFVMLGEG GESRFDTNIN FLLEEYGIMV NNDAVVRNVY 
HKYFHPKEAL VSSGVLNREI SRAAGKAVPG IIDEESSGNN AQALTFVYPF GATLSVMKPA 
VAVLSTGSVC FPLNRPILAF YHSKNQGGKL AVLGSCHMFS DQYLDKEENS KIMDVVFQWL 
TTGDIHLNQI DAEDPEISDY MMLPYTATLS KRNRECLQES DEIPRDFTTL FDLSIFQLDT 
TSFHSVIEAH EQLNVKHEPL QLIQPQFETP LPTLQPAVFP PSFRELPPPP LELFDLDETF 
SSEKARLAQI TNKCTEEDLE FYVRKCGDIL GVTSKLPKDQ QDAKHILEHV FFQVVEFKKL 
NQEHDIDTSE TAFQNNF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.