Details for: CFAP410

Gene ID: 755

Symbol: CFAP410

Ensembl ID: ENSG00000160226

Description: cilia and flagella associated protein 410

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: 91.1632
    Cell Significance Index: -14.1800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 58.4679
    Cell Significance Index: -14.8300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 37.9562
    Cell Significance Index: -17.9200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 34.7016
    Cell Significance Index: -17.8500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.3257
    Cell Significance Index: -16.4300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 8.2756
    Cell Significance Index: 136.3700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.8906
    Cell Significance Index: -15.7800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.2891
    Cell Significance Index: -16.9300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.4316
    Cell Significance Index: -10.5400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.4765
    Cell Significance Index: -5.4200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1526
    Cell Significance Index: 187.4600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9068
    Cell Significance Index: 42.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8889
    Cell Significance Index: 40.2900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.8869
    Cell Significance Index: 7.4500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6826
    Cell Significance Index: 43.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5888
    Cell Significance Index: 35.3500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5580
    Cell Significance Index: 12.0900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5324
    Cell Significance Index: 34.3500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5316
    Cell Significance Index: 36.7700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5105
    Cell Significance Index: 38.0500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5018
    Cell Significance Index: 49.6400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4999
    Cell Significance Index: 68.6500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4897
    Cell Significance Index: 25.4400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4581
    Cell Significance Index: 12.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4108
    Cell Significance Index: 224.3400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3965
    Cell Significance Index: 50.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3165
    Cell Significance Index: 9.1200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3096
    Cell Significance Index: 136.8600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3050
    Cell Significance Index: 8.0200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3005
    Cell Significance Index: 6.2900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2864
    Cell Significance Index: 20.2600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2863
    Cell Significance Index: 54.4800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2858
    Cell Significance Index: 9.9300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2411
    Cell Significance Index: 3.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2261
    Cell Significance Index: 44.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2235
    Cell Significance Index: 40.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2128
    Cell Significance Index: 27.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2114
    Cell Significance Index: 11.1000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1955
    Cell Significance Index: 2.9300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1804
    Cell Significance Index: 1.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1709
    Cell Significance Index: 21.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1659
    Cell Significance Index: 33.2700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1641
    Cell Significance Index: 148.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1566
    Cell Significance Index: 56.1900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1349
    Cell Significance Index: 4.3200
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.1192
    Cell Significance Index: 1.8100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1184
    Cell Significance Index: 3.3100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1085
    Cell Significance Index: 1.1800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0956
    Cell Significance Index: 11.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0906
    Cell Significance Index: 62.6700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0460
    Cell Significance Index: 0.9800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0389
    Cell Significance Index: 1.9700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0387
    Cell Significance Index: 1.3600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0297
    Cell Significance Index: 5.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0290
    Cell Significance Index: 21.9300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0227
    Cell Significance Index: 16.6700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0170
    Cell Significance Index: 0.2900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0013
    Cell Significance Index: -2.4300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0048
    Cell Significance Index: -8.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0065
    Cell Significance Index: -9.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0130
    Cell Significance Index: -17.6100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0147
    Cell Significance Index: -1.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0172
    Cell Significance Index: -12.7200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0190
    Cell Significance Index: -12.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0265
    Cell Significance Index: -14.9500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0288
    Cell Significance Index: -3.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0296
    Cell Significance Index: -18.4900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0304
    Cell Significance Index: -13.8200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0316
    Cell Significance Index: -1.4900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0536
    Cell Significance Index: -1.3700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0553
    Cell Significance Index: -15.9100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0689
    Cell Significance Index: -2.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0710
    Cell Significance Index: -2.0400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0796
    Cell Significance Index: -1.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0814
    Cell Significance Index: -17.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0936
    Cell Significance Index: -13.6100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1039
    Cell Significance Index: -2.7800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1091
    Cell Significance Index: -4.4700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1134
    Cell Significance Index: -8.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1168
    Cell Significance Index: -7.1800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1195
    Cell Significance Index: -3.5100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1255
    Cell Significance Index: -14.6200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1468
    Cell Significance Index: -1.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1601
    Cell Significance Index: -16.6700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1746
    Cell Significance Index: -2.7700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1766
    Cell Significance Index: -10.8300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1771
    Cell Significance Index: -13.5900
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1968
    Cell Significance Index: -2.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2113
    Cell Significance Index: -11.8600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2410
    Cell Significance Index: -2.5000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2661
    Cell Significance Index: -17.9000
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3018
    Cell Significance Index: -4.2300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3054
    Cell Significance Index: -13.5100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.3367
    Cell Significance Index: -5.2100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3440
    Cell Significance Index: -8.6000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3494
    Cell Significance Index: -9.3300
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.3571
    Cell Significance Index: -4.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3613
    Cell Significance Index: -13.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3657
    Cell Significance Index: -9.4000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3865
    Cell Significance Index: -13.5400

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** The CFAP410 protein is a member of the cilia and flagella-associated protein family, which is characterized by its involvement in the assembly, maintenance, and regulation of cilia and flagella. The protein is predicted to interact with various cellular components, including microtubules, motor proteins, and other proteins involved in cilia and flagella function. The CFAP410 protein is also implicated in the regulation of cell shape and motility, which are critical for the proper functioning of cilia and flagella. **Pathways and Functions** The CFAP410 protein is involved in several cellular pathways, including: 1. **Ciliary basal body formation**: The CFAP410 protein is required for the assembly and maintenance of the basal body, a critical component of cilia and flagella. 2. **Cilium assembly**: The protein is involved in the assembly of cilia from the basal body and the cilium. 3. **Cytoplasmic organization**: The CFAP410 protein is required for the organization of the cytoskeleton, which is essential for cell shape and motility. 4. **DNA damage response**: The protein is implicated in the response to DNA damage, which is critical for maintaining genome stability. 5. **Smoothened signaling pathway**: The CFAP410 protein is involved in the Smoothened signaling pathway, which is critical for the development and maintenance of the central nervous system. **Clinical Significance** Dysfunction of the CFAP410 protein has been implicated in several diseases, including: 1. **Primary ciliary dyskinesia (PCD)**: PCD is a rare genetic disorder characterized by the absence or dysfunction of cilia, leading to respiratory and other systemic problems. 2. **Spondyloepiphyseal dysplasia**: This disorder is characterized by abnormal bone growth and development, which may be related to defects in cilia and flagella function. 3. **Neurological disorders**: The CFAP410 protein is also implicated in the development and maintenance of the central nervous system, and dysfunction may contribute to neurological disorders such as epilepsy and autism spectrum disorder. In conclusion, the CFAP410 protein plays a critical role in the regulation of cilia and flagella function, cell shape, and motility, and its dysfunction has been implicated in several diseases. Further research is needed to fully understand the mechanisms of CFAP410 function and its role in human disease.

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 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 3 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 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 SMART 1 SMR 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 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. 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.