Gene: Evc (Ellis van Creveld gene syndrome)
Mus musculus
Symbol:
Evc
Name:
Ellis van Creveld gene syndrome
Description:
INVOLVED IN endochondral bone growth; positive regulation of smoothened signaling pathway; ASSOCIATED WITH abnormal basioccipital bone morphology; abnormal chondrocyte morphology; abnormal chondrocyte physiology; ASSOCIATED WITH Ellis-Van Creveld Syndrome (ortholog); Weyers acrofacial dysostosis (ortholog); FOUND IN cilium; microtubule basal body; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene
Type:
protein-coding
RefSeq Status:
VALIDATED
Also known as:
Ellis van Creveld gene homolog; ellis-van Creveld syndrome protein homolog; EvC protein (Ellis-van Creveld syndrome); OTTMUSP00000030026; OTTMUSP00000030027; OTTMUSP00000030028
Orthologs:
Homo sapiens : EVC
(Ellis van Creveld syndrome)
HGNC
Rattus norvegicus : Evc
(Ellis van Creveld syndrome)
Latest Assembly:
Mouse Genome Assembly Build 37
Position:
Map Chr Position Strand Source Mouse Genome Assembly GRCm38 5 37,299,171 - 37,336,881 - NCBI Mouse cM Map 5 - NCBI Mouse Celera Assembly 5 34,748,894 - 34,787,541 - NCBI Mouse Genome Assembly Build 37 5 37,690,410 - 37,728,120 - NCBI Mouse Genome Assembly Build 36.1 5 37,690,412 - 37,728,100 - NCBI Mouse Cytogenetic Map 5 B3 NCBI
Model
Disease Annotations
Gene-Chemical Interaction Annotations
17alpha-ethynylestradiol multiple interactions EXP 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EVC mRNA CTD PMID:17942748 2,3,7,8-tetrachlorodibenzodioxine multiple interactions EXP 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EVC mRNA CTD PMID:17942748 2,3,7,8-tetrachlorodibenzodioxine decreases expression EXP 6480464 Tetrachlorodibenzodioxin results in decreased expression of EVC mRNA CTD PMID:15034205 2,3,7,8-tetrachlorodibenzodioxine multiple interactions EXP 6480464 AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of EVC mRNA] CTD PMID:15034205 2,3,7,8-tetrachlorodibenzodioxine increases expression EXP 6480464 Tetrachlorodibenzodioxin results in increased expression of EVC mRNA CTD PMID:19933214 benzo[a]pyrene multiple interactions EXP 6480464 AHR protein inhibits the reaction [Benzo(a)pyrene results in decreased expression of EVC mRNA] CTD PMID:15034205 benzo[a]pyrene decreases expression EXP 6480464 Benzo(a)pyrene results in decreased expression of EVC mRNA CTD PMID:15034205 calcitriol decreases expression ISO RGD:1342513 6480464 Calcitriol results in decreased expression of EVC mRNA CTD PMID:21592394 calcitriol multiple interactions ISO RGD:1342513 6480464 [Testosterone co-treated with Calcitriol] results in decreased expression of EVC mRNA CTD PMID:21592394 copper(2+) sulfate decreases expression ISO RGD:1342513 6480464 Copper Sulfate results in decreased expression of EVC mRNA CTD PMID:19549813 elemental selenium increases expression ISO RGD:1342513 6480464 Selenium results in increased expression of EVC mRNA CTD PMID:19244175 selenium atom increases expression ISO RGD:1342513 6480464 Selenium results in increased expression of EVC mRNA CTD PMID:19244175 testosterone multiple interactions ISO RGD:1342513 6480464 [Testosterone co-treated with Calcitriol] results in decreased expression of EVC mRNA CTD PMID:21592394 testosterone decreases expression ISO RGD:1342513 6480464 Testosterone results in decreased expression of EVC mRNA CTD PMID:21592394 trimellitic anhydride decreases expression EXP 6480464 trimellitic anhydride results in decreased expression of EVC mRNA CTD PMID:19042947 vancomycin increases expression EXP 6480464 Vancomycin results in increased expression of EVC mRNA CTD PMID:18930951
Biological Process
endochondral bone growth IMP 2290270 MGI:MGI:3720528|PMID:17660199 UniProtKB MGI:MGI:3720528 PMID:17660199 positive regulation of smoothened signaling pathway IMP 2290270 MGI:MGI:3720528|PMID:17660199 UniProtKB MGI:MGI:3720528 PMID:17660199 smoothened signaling pathway IEA InterPro:IPR026582|InterPro:IPR026501 2290270 MGI:MGI:2152098 UniProtKB MGI:MGI:2152098
Cellular Component
cell projection IEA UniProtKB-KW:KW-0966 2290270 MGI:MGI:1354194 UniProtKB MGI:MGI:1354194 cilium IDA 2290270 MGI:MGI:5294521|PMID:21356043 UniProtKB MGI:MGI:5294521 PMID:21356043 cilium ISO UniProtKB:P57679 2290270 MGI:MGI:4834177 MGI MGI:MGI:4834177 cytoplasm IEA UniProtKB-KW:KW-0963 2290270 MGI:MGI:1354194 UniProtKB MGI:MGI:1354194 cytoskeleton IEA UniProtKB-KW:KW-0206 2290270 MGI:MGI:1354194 UniProtKB MGI:MGI:1354194 integral to membrane IEA UniProtKB-KW:KW-0812 2290270 MGI:MGI:1354194 UniProtKB MGI:MGI:1354194 membrane IEA UniProtKB-KW:KW-0472 2290270 MGI:MGI:1354194 UniProtKB MGI:MGI:1354194 microtubule basal body IDA 2290270 MGI:MGI:3720528|PMID:17660199 UniProtKB MGI:MGI:3720528 PMID:17660199 plasma membrane IEA UniProtKB-KW:KW-1003 2290270 MGI:MGI:1354194 UniProtKB MGI:MGI:1354194
Molecular Function
protein binding IPI UniProtKB:Q8K1G2 2290270 MGI:MGI:5294521|PMID:21356043 UniProtKB MGI:MGI:5294521 PMID:21356043
1301170 Lith13_m lithogenic gene 13 (mouse) Not determined 5 36728383 70728495 Mouse 1300926 Hpi2_m hepatic PMN infiltration 2 (mouse) Not determined 5 36088465 70088611 Mouse 1301223 Hdlq7_m HDL QTL 7 (mouse) Not determined 5 36088465 70088611 Mouse 1301483 Obq12_m obesity QTL 12 (mouse) Not determined 5 36088465 70088611 Mouse 1301845 Lxw4_m lupus BXSB x NZW 4 (mouse) Not determined 5 35928359 69928491 Mouse 1301693 Sle6_m systemic lupus erythematosus susceptibility 6 (mouse) Not determined 5 33817671 67817825 Mouse 4142228 Adip13_m adiposity 13 (mouse) Not determined 5 33722564 67722773 Mouse 1301555 Alcp10_m alcohol preference locus 10 (mouse) Not determined 5 31258172 65258377 Mouse 1302061 Szv1_m seizure severity 1 (mouse) Not determined 5 31258172 65258377 Mouse 1301403 Alcp9_m alcohol preference locus 9 (mouse) Not determined 5 31258172 65258377 Mouse 1300760 Nobq1_m New Zealand obese QTL 1 (mouse) Not determined 5 29021463 63021569 Mouse 1302076 Vmbic2_m ventral midbrain iron content 2 (mouse) Not determined 5 27449245 61449348 Mouse 1300701 Cd8ts1_m CD8 T cell subset 1 (mouse) Not determined 5 27449245 61449348 Mouse 1357688 Mgdr1_m muscle Gapd decay rate 1 (mouse) Not determined 5 27449245 61449348 Mouse 1301776 Skts3_m skin tumor susceptibility 3 (mouse) Not determined 5 21901191 55901299 Mouse 1301264 Cocia6_m cocaine induced activation 6 (mouse) Not determined 5 20920888 54921029 Mouse 1300719 Iba5_m induction of brown adipocytes 5 (mouse) Not determined 5 20920888 54921029 Mouse 1301355 Hipp2_m hippocampal weight 2 (mouse) Not determined 5 18957616 52957725 Mouse 1558858 Scpro7_m Stem cell proliferation 7 (mouse) Not determined 5 18957616 52957725 Mouse 1301685 Estq2_m estradiol regulated response QTL 2 (mouse) Not determined 5 15779113 49779219 Mouse 1300964 Hdlq22_m HDL QTL 22 (mouse) Not determined 5 15132687 49132904 Mouse 1357808 Mgdr2_m muscle Gapd decay rate 2 (mouse) Not determined 5 10281935 44282072 Mouse 4141920 Vmmt5_m vertebral morphology and mechanical traits 5 (mouse) Not determined 5 10281935 44282072 Mouse 4142377 Secia1_m small effect CIA locus 1 (mouse) Not determined 5 7474980 41475119 Mouse 4141207 Imrfq1_m immune response to Factor IX QTL 1 (mouse) Not determined 5 7424937 41425059 Mouse 1301146 Obq11_m obesity QTL 11 (mouse) Not determined 5 7111533 41111675 Mouse 1301806 Actd2_m activity-distance traveled 2 (mouse) Not determined 5 4685340 38685472 Mouse 1301341 Many3_m mandible asymmetry 3 (mouse) Not determined 5 4368263 38368361 Mouse