Type | Description |
---|---|
Definition | epiphycan |
Date | Results | Publications |
---|---|---|
2010-08-23 11:28:00 | Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region. | 20357198 |
2010-01-21 00:00:00 | In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis. | 17558846 |
2010-01-21 00:00:00 | OPTC and EPYC are unlikely to play a major role in high myopia. | 19844586 |
2009-12-02 21:40:00 | Observational study of gene-disease association. (HuGE Navigator) | 19844586 |
2009-08-12 21:34:00 | Observational study of gene-disease association. (HuGE Navigator) | 19616852 |
Type | IDs |
---|---|
Synonymous | DSPG3, PGLB, Pg-Lb, SLRR3B |
Gene |
UniProtKB-ID:
EPYC_HUMAN,
A0A024RBC3_HUMAN
UniprotKB:
Q99645,
A0A024RBC3
UniParc:
UPI000013D136
EMBL:
CH471054,
AK290642,
U59111,
BC030958
Ensembl:
ENSG00000083782
KO:
hsa:1833
|
Nucleutide sequences |
EMBL-CDS:
AAH30958.1,
EAW97444.1,
BAF83331.1,
AAC50945.1,
EAW97447.1
Gene_ORFName:
hCG_24109
Ensembl_TRS:
ENST00000261172
|
Protein sequencees |
Ensembl_PRO:
ENSP00000261172
RefSeq:
NP_004941.2,
XP_011536310.1
|
Others |
UniRef100:
UniRef100_Q99645
UniRef90:
UniRef90_P79119
UniRef50:
UniRef50_P79119
UniGene:
Hs.435680
CCDS:
CCDS31870.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
---|---|---|---|---|---|---|---|---|
Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
暂无数据
Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
---|---|---|---|
29987050 |
Proc. Natl. Acad. Sci. U.S.A. Tengfei Xiao , Wei Li , Xiaoqing Wang , Han Xu , Jixin Yang , Qiu Wu , Ying Huang , Joseph Geradts , Peng Jiang , Teng Fei , David Chi , Chongzhi Zang , Qi Liao , Jonathan Rennhack , Eran Andrechek , Nanlin Li , Simone Detre , Mitchell Dowsett , Rinath M Jeselsohn , X Shirley Liu , Myles Brown |
2018-07-31 | - |
25814554 |
Phospho-tyrosine dependent protein-protein interaction network. Mol. Syst. Biol. Arndt Grossmann , Nouhad Benlasfer , Petra Birth , Anna Hegele , Franziska Wachsmuth , Luise Apelt , Ulrich Stelzl |
2015-03-01 |
SH2B3,
SH2D3A,
HUWE1,
FSBP,
TSPAN2,
TNK2,
SPRY2,
APBB3,
TRDN,
ANAPC10,
BAIAP2,
ZNHIT1,
SEMA4D,
UBD,
CENPB,
POLR3F,
RAI2,
SDCCAG8,
FRS3,
FRS2,
PGRMC1,
CYP46A1,
ARID5A,
NMU,
RALBP1,
YWHAQ,
LECT1,
CYB561D2,
RCAN3,
CAPN10,
FSTL1,
RASSF1,
CHN2,
TP53RK,
EFHC1,
OSBPL6,
C1QTNF3,
DDIT4L,
FAM46B,
CKM,
TM4SF19,
RBP7,
OLIG1,
CLNK,
SH2D1B,
TWIST2,
ASCL4,
SOCS4,
COX6B2,
GABPB2,
SHE,
VSTM2L,
C22orf39,
PPP1R21,
SCLT1,
PACRGL,
SETD9,
C6orf141,
MAGEC3,
DCAF12L1,
CRK,
CRKL,
CRP,
TCP10L,
ASB8,
ASB9,
CRYBA2,
CSK,
DUSP18,
FAM117B,
PLB1,
IQUB,
WBSCR27,
CYP2C8,
DBN1,
PAQR7,
DDX5,
LIX1,
GLIS3,
DOK1,
EPYC,
DTNA,
E2F2,
E2F6,
PHC2,
KRTCAP2,
ELK1,
ADCK5,
EPS8,
AKT1,
ESD,
MECOM,
EYA3,
EZH2,
FABP7,
FANCG,
MPEG1,
LNX2,
FAM217A
|
25114248 |
Proc. Natl. Acad. Sci. U.S.A. Frances E Lock , Rita Rebollo , Katharine Miceli-Royer , Liane Gagnier , Sabrina Kuah , Artem Babaian , Maialen Sistiaga-Poveda , C Benjamin Lai , Oksana Nemirovsky , Isabel Serrano , Christian Steidl , Mohammad M Karimi , Dixie L Mager |
2014-08-26 |
ALDH1L1,
EPYC,
FABP7,
PTPRF,
MFAP5
|
20357198 |
Invest Ophthalmol Vis Sci Anthony J Aldave , George O D Rosenwasser , Vivek S Yellore , Jeanette C Papp , Eric M Sobel , Michele N Pham , Michael C Chen , Sugandha Dandekar , Ram Sripracha , Sylvia A Rayner , Joseph W Sassani , Michael B Gorin |
2010-08-01 | - |
19616852 |
Ophthalmology Zoe Tzu-Yi Chen , I-Jong Wang , Yung-Feng Shih , Luke Long-Kung Lin |
2009-10-01 |
DCN,
EPYC,
LUM
|
19844586 |
An evaluation of OPTC and EPYC as candidate genes for high myopia. Mol. Vis. Panfeng Wang , Shiqiang Li , Xueshan Xiao , Xiangming Guo , Qingjiong Zhang |
2009-01-01 |
EPYC,
OPTC
|
17558846 |
Ophthalmic Genet. Anthony J Aldave , Baris Sonmez , Nirit Bourla , Gerald Schultz , Jeanette C Papp , Andrew K Salem , Sylvia A Rayner , Vivek S Yellore |
2007-06-01 |
KERA,
DCN,
EPYC,
FOXC1,
LUM,
PITX2
|
16902402 |
Mol. Vis. I-Jong Wang , Ting-Hsuan Chiang , Yung-Feng Shih , Chuhsing Kate Hsiao , Shao-Chun Lu , Yi-Chih Hou , Luke Long-Kung Lin |
2006-01-01 |
DCN,
EPYC,
LUM
|
15489334 |
Genome Res. Daniela S Gerhard , Lukas Wagner , Elise A Feingold , Carolyn M Shenmen , Lynette H Grouse , Greg Schuler , Steven L Klein , Susan Old , Rebekah Rasooly , Peter Good , Mark Guyer , Allison M Peck , Jeffery G Derge , David Lipman , Francis S Collins , Wonhee Jang , Steven Sherry , Mike Feolo , Leonie Misquitta , Eduardo Lee , Kirill Rotmistrovsky , Susan F Greenhut , Carl F Schaefer , Kenneth Buetow , Tom I Bonner , David Haussler , Jim Kent , Mark Kiekhaus , Terry Furey , Michael Brent , Christa Prange , Kirsten Schreiber , Nicole Shapiro , Narayan K Bhat , Ralph F Hopkins , Florence Hsie , Tom Driscoll , M Bento Soares , Tom L Casavant , Todd E Scheetz , Michael J Brown-stein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Yulan Piao , Dawood B Dudekula , Minoru S H Ko , Koichi Kawakami , Yutaka Suzuki , Sumio Sugano , C E Gruber , M R Smith , Blake Simmons , Troy Moore , Richard Waterman , Stephen L Johnson , Yijun Ruan , Chia Lin Wei , S Mathavan , Preethi H Gunaratne , Jiaqian Wu , Angela M Garcia , Stephen W Hulyk , Edwin Fuh , Ye Yuan , Anna Sneed , Carla Kowis , Anne Hodgson , Donna M Muzny , John McPherson , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madari , Alice C Young , Keith D Wetherby , Steven J Granite , Peggy N Kwong , Charles P Brinkley , Russell L Pearson , Gerard G Bouffard , Robert W Blakesly , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Malachi Griffith , Obi L Griffith , Martin I Krzywinski , Nancy Liao , Ryan Morin , Ryan Morrin , Diana Palmquist , Anca S Petrescu , Ursula Skalska , Duane E Smailus , Jeff M Stott , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Robert A Holt , Agnes Baross , Marco A Marra , Sandra Clifton , Kathryn A Makowski , Stephanie Bosak , Joel Malek , MGC Project Team |
2004-10-01 |
Ldlrap1,
Dnajc3,
Rnaset2a,
Btnl1,
Isg15,
Cyp3a41b,
Ly6c2,
Ccl21b,
Eif3j2,
Mup18,
Lrrc19,
Rcc1,
1700047I17Rik2,
Pcsk9,
Adat3,
Tdrd7,
Sco2,
Gpr153,
Pafah2,
Gm44504,
H6pd,
Adprhl2,
Gpn2,
Rusc2,
Stx12,
Ppp1r8,
Smpdl3b,
Fam46b,
Bsdc1,
Slc44a1,
Zfand2a,
Rubcn,
Kifc1,
Pifo,
C030017K20Rik,
Cbarp,
Rpl5,
Micalcl,
Atg14,
Lrrc8c,
Noc4l,
Nsun5,
Psph,
Trrap,
Mapre3,
Ube3c,
Tbc1d14,
Hscb,
Tyw1,
Emilin1,
Rab28,
Pot1a,
Parp11,
Tada3,
Tra2a,
Brk1,
Fbxl14,
Phrf1,
Plekha1,
Gm21975,
Ric8a,
Mob2,
Prkd2,
Ccp110,
Vrk3,
Grwd1,
Nlrp6,
Trim68,
Psip1,
Spred3,
Faap24,
Ints4,
Rrp8,
Unc45a,
Igflr1,
Sf3b3,
D8Ertd738e,
Usb1,
Champ1,
Smim19,
Exoc8,
Gadd45gip1,
Phkb,
Dohh,
Fam192a,
Enkd1,
Taf5l,
Zdhhc7,
Snapc2,
Ak6,
Gpat4,
Dcun1d2,
Ankrd10,
Cog4,
Hinfp,
Lars2,
Xylb,
Imp3,
Cmtm7
|
12477932 |
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team |
2002-12-24 | - |
排名 | 科研单位 | 文献 |
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