Details for: EVC

Gene ID: 2121

Symbol: EVC

Ensembl ID: ENSG00000072840

Description: EvC ciliary complex subunit 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are 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: 14,520
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 4.74
    Marker Score: 14,052
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.52
    Marker Score: 3,584
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.42
    Marker Score: 5,930
  • 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: 4,645
  • 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: 1,108
  • 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: 71,817
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,041
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.99
    Marker Score: 1,195
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,327
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,737
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.9
    Marker Score: 1,204
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.89
    Marker Score: 18,984
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.86
    Marker Score: 1,630
  • 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: 456
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.81
    Marker Score: 1,777
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.8
    Marker Score: 4,810
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,256
  • 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: 1,407
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7
    Marker Score: 10,935
  • 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: 1,275
  • 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: 1,747
  • 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: 478
  • 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: 2,033
  • 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: 5,238
  • 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: 3,236
  • 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: 1,658
  • 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: 897
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.25
    Marker Score: 1,675
  • 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

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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** EVC is a single-copy gene located on chromosome 9q21.3, encoding a protein of 247 amino acids. The EVC protein is a subunit of the primary cilium, specifically interacting with the axoneme, the core structure of the cilium. The protein's structure is characterized by a unique combination of transmembrane and cytoplasmic domains, suggesting its role in regulating ciliary function and signaling. **Pathways and Functions** The EVC protein is involved in several key pathways that regulate cellular behavior and development: 1. **Smoothened signaling pathway**: EVC interacts with Smoothened (SMO), a receptor for Hedgehog signaling, to modulate the activity of this pathway. Abnormalities in this pathway have been linked to various diseases, including cancer and BBS. 2. **Cartilage development**: EVC is required for the proper development of cartilage, a key component of the skeletal system. Mutations in EVC can lead to abnormalities in cartilage formation, contributing to the pathogenesis of BBS. 3. **Ciliary basal body and membrane**: EVC is a critical component of the primary cilium, influencing the structure and function of the basal body and cilium membrane. 4. **Muscle organ development**: EVC is also involved in the development of muscle organs, highlighting the importance of ciliary function in regulating muscle development and function. **Clinical Significance** Mutations in the EVC gene have been associated with Bardet-Biedl syndrome, a rare genetic disorder characterized by: 1. **Obesity**: EVC mutations can lead to obesity, a significant risk factor for various diseases, including type 2 diabetes and cardiovascular disease. 2. **Renal failure**: BBS is characterized by progressive renal failure, highlighting the importance of EVC in maintaining renal function. 3. **Congenital abnormalities**: EVC mutations can lead to congenital abnormalities, including polydactyly, clubfoot, and cardiac defects. In addition to BBS, EVC mutations have been linked to other diseases, including: 1. **Retinitis pigmentosa**: A group of inherited eye disorders characterized by progressive vision loss. 2. **Cerebellar ataxia**: A neurological disorder characterized by progressive loss of coordination and balance. In conclusion, the EVC gene plays a critical role in regulating ciliary function, signaling, and development, highlighting its importance in maintaining normal cellular behavior and preventing disease. Further research is needed to fully elucidate the mechanisms by which EVC mutations lead to disease and to develop effective therapeutic strategies for individuals with EVC-related disorders.

Genular Protein ID: 2446079027

Symbol: EVC_HUMAN

Name: DWF-1

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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:

Database IDs:

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. 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.