Details for: EVC

Gene ID: 2121

Symbol: EVC

Ensembl ID: ENSG00000072840

Description: EvC ciliary complex subunit 1

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: ON-bipolar cell (CL0000749)
    Fold Change: 4.98
    Marker Score: 14520
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 4.74
    Marker Score: 14052
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.52
    Marker Score: 3584
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.42
    Marker Score: 5930
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.37
    Marker Score: 799
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.31
    Marker Score: 4645
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.07
    Marker Score: 389
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 791
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.01
    Marker Score: 343
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1
    Marker Score: 1108
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1
    Marker Score: 636
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71817
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48041
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.99
    Marker Score: 1195
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5327
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.9
    Marker Score: 1204
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.89
    Marker Score: 18984
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.86
    Marker Score: 1630
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.83
    Marker Score: 244
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.81
    Marker Score: 455.5
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.81
    Marker Score: 1776.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.8
    Marker Score: 4810
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1256
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 704
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.77
    Marker Score: 449
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.73
    Marker Score: 1406.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7
    Marker Score: 10935
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.68
    Marker Score: 720
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.67
    Marker Score: 518
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.63
    Marker Score: 1275
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.63
    Marker Score: 780
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.6
    Marker Score: 692
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.57
    Marker Score: 179
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.56
    Marker Score: 604
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.54
    Marker Score: 170
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.54
    Marker Score: 470
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.53
    Marker Score: 1747
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.53
    Marker Score: 294
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.52
    Marker Score: 218
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.52
    Marker Score: 477.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.51
    Marker Score: 513
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.5
    Marker Score: 266
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.49
    Marker Score: 2032.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.47
    Marker Score: 224
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.46
    Marker Score: 440
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.45
    Marker Score: 636
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.44
    Marker Score: 121
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.44
    Marker Score: 354
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.42
    Marker Score: 503
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.42
    Marker Score: 134
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.39
    Marker Score: 102
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.38
    Marker Score: 121
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.38
    Marker Score: 140
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.37
    Marker Score: 166
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.37
    Marker Score: 653
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.37
    Marker Score: 321
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 368
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.36
    Marker Score: 203
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.36
    Marker Score: 216
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.36
    Marker Score: 421
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.34
    Marker Score: 825
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.34
    Marker Score: 136
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.33
    Marker Score: 86
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.33
    Marker Score: 5238
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.32
    Marker Score: 135
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.32
    Marker Score: 227
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.32
    Marker Score: 3236
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.31
    Marker Score: 334
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.31
    Marker Score: 533
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.31
    Marker Score: 88
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.31
    Marker Score: 296
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.31
    Marker Score: 81
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.3
    Marker Score: 205
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.3
    Marker Score: 146
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.28
    Marker Score: 130
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.28
    Marker Score: 302
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.28
    Marker Score: 106
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.27
    Marker Score: 333
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.27
    Marker Score: 177
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.26
    Marker Score: 299
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.26
    Marker Score: 196
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.26
    Marker Score: 172
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.26
    Marker Score: 124
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.25
    Marker Score: 1658
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.25
    Marker Score: 936
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.25
    Marker Score: 896.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.25
    Marker Score: 1675
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.25
    Marker Score: 87
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.24
    Marker Score: 373
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.23
    Marker Score: 126
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.23
    Marker Score: 300
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.23
    Marker Score: 79
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.23
    Marker Score: 72

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Other Information

## Summary EVC is a protein complex that plays a crucial role in the development and maintenance of the ciliary body and associated structures in the eye. It is expressed in various cell types, including epithelial cells, stem cells, and germ cells in the eye. ## Key characteristics * EVC is a large protein complex composed of multiple subunits. * It is involved in the regulation of the ciliary signaling pathway, which is responsible for the development and maintenance of the ciliary body. * EVC is also involved in the development of the skeletal system, the muscle organ, and the plasma membrane. ## Pathways and functions * EVC is a key component of the ciliary signaling pathway, which is responsible for regulating the development and maintenance of the ciliary body. * It is expressed in cells that are involved in the formation and maintenance of the ciliary body, including epithelial cells, stem cells, and germ cells. * EVC is involved in the regulation of the development of the ciliary body by interacting with other proteins in the pathway. * It is also involved in the development of the skeletal system, the muscle organ, and the plasma membrane. ## Clinical significance Mutations in the EVC gene have been linked to several eye diseases, including ciliary dystrophy and glaucoma. These diseases are characterized by the loss of ciliary cells, which are responsible for producing mucus that keeps the eye moist and clear. EVC is a promising target for the treatment of eye diseases. By understanding the role of EVC in the ciliary signaling pathway, it may be possible to develop new treatments for these diseases.

Genular Protein ID: 2446079027

Symbol: EVC_HUMAN

Name: DWF-1

UniProtKB Accession Codes:

P57679

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 11 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 3 SAM 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10700184

Title: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

PubMed ID: 10700184

DOI: 10.1038/73508

PubMed ID: 18947413

Title: Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

PubMed ID: 18947413

DOI: 10.1186/1471-2350-9-92

PubMed ID: 19744229

Title: A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

PubMed ID: 19744229

DOI: 10.1111/j.1442-200x.2009.02953.x

Sequence Information:

  • Length: 992
  • Mass: 111990
  • Checksum: E3ED42401138B5D4
  • Sequence:
    • MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD 
DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI 
YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS 
ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF 
KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE 
KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS 
QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE 
LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT 
ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL 
QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL 
SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT 
QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ 
LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY 
VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT 
AGGAHETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ 
NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN NEDLASGDQT 
SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL

Genular Protein ID: 774783827

Symbol: E9PCN4_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PCN4

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 4 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 2 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 535
  • Mass: 60000
  • Checksum: 1DF552F6323F8754
  • Sequence:
    • MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD 
DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI 
YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS 
ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF 
KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE 
KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS 
QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE 
LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT 
ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QKAMRRHRDT GKEAV

Genular Protein ID: 3013369249

Symbol: Q5U3C2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5U3C2

Database IDs:

ARBA 9 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 4 GenomeRNAi 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 RefSeq 1 SAM 2

Citations:

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

Sequence Information:

  • Length: 535
  • Mass: 59970
  • Checksum: 66CB0D1203296360
  • Sequence:
    • MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD 
DTQNLLKNLE SNAPTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI 
YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS 
ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF 
KMCLLDLLPK KKSDDELHQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE 
KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS 
QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE 
LLTQQHKAFW QEAERFSREF VQRGKDLVKA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT 
ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QKAMRRHRDT GKEAV

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.