Details for: CFAP410

Gene ID: 755

Symbol: CFAP410

Ensembl ID: ENSG00000160226

Description: cilia and flagella associated protein 410

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 2.02
    Marker Score: 925
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.5
    Marker Score: 13001
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.27
    Marker Score: 2215
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.21
    Marker Score: 356
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.15
    Marker Score: 2185
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.14
    Marker Score: 1018
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71711
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47935
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.98
    Marker Score: 1225
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30394
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.97
    Marker Score: 2042
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.96
    Marker Score: 1813.5
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.95
    Marker Score: 637
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.95
    Marker Score: 1526
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2398
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.91
    Marker Score: 1020.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2702
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5118
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.88
    Marker Score: 2371
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.88
    Marker Score: 515
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5233
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.86
    Marker Score: 606.5
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.85
    Marker Score: 1412
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 305
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.85
    Marker Score: 3266
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.84
    Marker Score: 465
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.84
    Marker Score: 2126
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.84
    Marker Score: 1365
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.84
    Marker Score: 1985
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.84
    Marker Score: 412
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.83
    Marker Score: 625
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.83
    Marker Score: 2943
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.83
    Marker Score: 3562
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.82
    Marker Score: 1938
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.82
    Marker Score: 9237
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.81
    Marker Score: 5264
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.79
    Marker Score: 528
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.79
    Marker Score: 3105
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.79
    Marker Score: 12326
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 305
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.75
    Marker Score: 337
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.75
    Marker Score: 2781
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 573
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.74
    Marker Score: 1549
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.74
    Marker Score: 783
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.73
    Marker Score: 348
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.73
    Marker Score: 1373
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.73
    Marker Score: 7353
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.72
    Marker Score: 349
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.72
    Marker Score: 2946
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.72
    Marker Score: 24819
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.71
    Marker Score: 391
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.71
    Marker Score: 737
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.7
    Marker Score: 712
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 636
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.69
    Marker Score: 442
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.69
    Marker Score: 741
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.68
    Marker Score: 578
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.68
    Marker Score: 4022
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.68
    Marker Score: 273
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.68
    Marker Score: 252
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.68
    Marker Score: 460
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.67
    Marker Score: 1531
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2823
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.67
    Marker Score: 1832
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.66
    Marker Score: 214
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.66
    Marker Score: 1125
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.66
    Marker Score: 308
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.66
    Marker Score: 483
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.65
    Marker Score: 652
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.65
    Marker Score: 952
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.64
    Marker Score: 145
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.63
    Marker Score: 198
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.63
    Marker Score: 218
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.63
    Marker Score: 148
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.63
    Marker Score: 386
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.63
    Marker Score: 1974
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.62
    Marker Score: 893
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.62
    Marker Score: 877
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.62
    Marker Score: 4609
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.62
    Marker Score: 411
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.62
    Marker Score: 655.5
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.61
    Marker Score: 246
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.61
    Marker Score: 388
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.61
    Marker Score: 230
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.61
    Marker Score: 304
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.61
    Marker Score: 2925
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.6
    Marker Score: 171
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.6
    Marker Score: 191
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.6
    Marker Score: 173
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 396
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6
    Marker Score: 3580
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.59
    Marker Score: 821
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.59
    Marker Score: 129
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.59
    Marker Score: 3822
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.58
    Marker Score: 3548

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Other Information

**Key characteristics:** - It is a large protein with a molecular weight of approximately 300 kDa. - It is a transmembrane protein that is expressed in both the extracellular and intracellular domains. - It is a key component of the cilia and flagella complex. **Pathways and functions:** - CFAP410 is involved in the assembly and maintenance of cilia and flagella. - It is a key component of the cilia and flagella complex. - It is involved in the transport of materials into and out of the cell. - It is also involved in the regulation of cell shape and the maintenance of cell integrity. **Clinical significance:** - Mutations in CFAP410 have been linked to several human diseases, including ciliopathies and neurodegenerative diseases. - These diseases are characterized by the presence of abnormal cilia and flagella, which can lead to a variety of symptoms, including developmental delays, respiratory problems, and neurological symptoms. - CFAP410 is a promising target for the treatment of these diseases. **Conclusion:** CFAP410 is a key protein that is involved in the formation and maintenance of cilia and flagella. Mutations in CFAP410 have been linked to several human diseases, highlighting its importance in human health.

Genular Protein ID: 1028751522

Symbol: CF410_HUMAN

Name: C21orf-HUMF09G8.5

UniProtKB Accession Codes:

O43822 A8MPS9 O14993 Q8N5X6 Q99837 Q99838

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 10 EPD 1 Ensembl 3 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 1 PathwayCommons 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 4 SAM 1 SMART 1 SMR 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9465297

Title: Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.

PubMed ID: 9465297

DOI: 10.1006/geno.1997.5066

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

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: 9325172

Title: Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3.

PubMed ID: 9325172

DOI: 10.1006/bbrc.1997.7352

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 21834987

Title: Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration.

PubMed ID: 21834987

DOI: 10.1186/1741-7007-9-54

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26290490

Title: The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.

PubMed ID: 26290490

DOI: 10.1093/abbs/gmv076

PubMed ID: 26294103

Title: C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.

PubMed ID: 26294103

DOI: 10.1136/bjophthalmol-2015-307277

PubMed ID: 26167768

Title: An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

PubMed ID: 26167768

DOI: 10.1038/ncb3201

PubMed ID: 27548899

Title: Identification of novel mutations in the LRR-Cap domain of C21orf2 in Japanese patients with retinitis pigmentosa and Cone-Rod Dystrophy.

PubMed ID: 27548899

DOI: 10.1167/iovs.16-19450

PubMed ID: 26974433

Title: Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations.

PubMed ID: 26974433

DOI: 10.1371/journal.pone.0150555

PubMed ID: 28422394

Title: Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

PubMed ID: 28422394

DOI: 10.1002/ajmg.a.38215

Sequence Information:

  • Length: 256
  • Mass: 28340
  • Checksum: D33F31EDAEA77D2A
  • Sequence:
    • MKLTRKMVLT RAKASELHSV RKLNCWGSRL TDISICQEMP SLEVITLSVN SISTLEPVSR 
CQRLSELYLR RNRIPSLAEL FYLKGLPRLR VLWLAENPCC GTSPHRYRMT VLRTLPRLQK 
LDNQAVTEEE LSRALSEGEE ITAAPEREGT GHGGPKLCCT LSSLSSAAET GRDPLDSEEE 
ATSGAQDERG LKPPSRGQFP SLSARDASSS HRGRNVLTAI LLLLRELDAE GLEAVQQTVG 
SRLQALRGEE VQEHAE

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. For the full schema, download it here.