Type | Description |
---|---|
Definition | zinc finger protein 630 |
Date | Results | Publications |
---|---|---|
2010-04-19 11:33:00 | Detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications. | 20186789 |
2010-04-07 21:40:00 | Observational study of gene-disease association. (HuGE Navigator) | 20186789 |
Type | IDs |
---|---|
Synonymous | dJ54B20.2 |
Gene |
UniProtKB-ID:
ZN630_HUMAN
UniprotKB:
Q2M218
UniParc:
UPI0001D62826,
UPI0000160BE4
EMBL:
BX419623,
CH471164,
BC112139,
Z98304
Ensembl:
ENSG00000221994
KO:
hsa:57232
|
Nucleutide sequences |
EMBL-CDS:
AAI12140.3,
EAW59337.1
Ensembl_TRS:
ENST00000276054,
ENST00000409324
|
Protein sequencees |
Ensembl_PRO:
ENSP00000354683,
ENSP00000386393
RefSeq:
NP_001032824.2,
NP_001269130.1,
NP_001269131.1,
NP_001177184.1
|
Others |
UniRef100:
UniRef100_Q2M218
UniRef90:
UniRef90_Q2M218
UniRef50:
UniRef50_Q2M218
UniGene:
Hs.650883
CCDS:
CCDS35237.2
|
{{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 |
---|---|---|---|
21873635 |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas |
2011-09-01 | - |
20186789 |
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am. J. Med. Genet. A Dorien Lugtenberg , Luiz Zangrande-Vieira , Maria Kirchhoff , Annabel C Whibley , Astrid R Oudakker , Susanne Kjaergaard , Angela M Vianna-Morgante , Tjitske Kleefstra , Mariken Ruiter , Fernanda S Jehee , Reinhard Ullmann , Charles E Schwartz , Michael Stratton , F Lucy Raymond , Joris A Veltman , Terry Vrijenhoek , Rolph Pfundt , Janneke H M Schuurs-Hoeijmakers , Jayne Y Hehir-Kwa , Guy Froyen , Jamel Chelly , Hans Hilger Ropers , Claude Moraine , Jozef Gècz , Jeroen Knijnenburg , Sarina G Kant , Ben C J Hamel , Carla Rosenberg , Hans van Bokhoven , Arjan P M de Brouwer |
2010-03-01 |
ZNF630
|
16344560 |
Genome Res. Kouichi Kimura , Ai Wakamatsu , Yutaka Suzuki , Toshio Ota , Tetsuo Nishikawa , Riu Yamashita , Jun-ichi Yamamoto , Mitsuo Sekine , Katsuki Tsuritani , Hiroyuki Wakaguri , Shizuko Ishii , Tomoyasu Sugiyama , Kaoru Saito , Yuko Isono , Ryotaro Irie , Norihiro Kushida , Takahiro Yoneyama , Rie Otsuka , Katsuhiro Kanda , Takahide Yokoi , Hiroshi Kondo , Masako Wagatsuma , Katsuji Murakawa , Shinichi Ishida , Tadashi Ishibashi , Asako Takahashi-Fujii , Tomoo Tanase , Keiichi Nagai , Hisashi Kikuchi , Kenta Nakai , Takao Isogai , Sumio Sugano |
2006-01-01 |
Nefm,
MED6,
CDH2,
PDZK1P1,
DDTL,
ABI1,
GNPDA1,
GTF2IP4,
ZSCAN30,
SRA1,
TMEM170B,
HOTAIR,
FAM86JP,
LOC100126784,
C8orf88,
LOC100128006,
RAB28P5,
MYHAS,
CDC42P3,
LOC100128979,
LOC100128993,
KTN1-AS1,
LOC100129083,
LOC100129204,
TOPORS-AS1,
LINC00484,
ZNF37BP,
FAM47E,
MRVI1-AS1,
ZNF737,
LOC100130075,
MAPT-IT1,
MIR124-2HG,
LINC00861,
LOC100130238,
LOC100130357,
PARD6G-AS1,
LOC100130547,
NFYC-AS1,
EFCAB10,
LOC100130798,
SBK3,
LOC100130849,
LOC100130872,
LOC100130880,
LOC100130987,
LOC100131047,
LINC01135,
CKMT2-AS1,
ZBTB20-AS1,
WDR86-AS1,
CCDC183-AS1,
SNAP25-AS1,
NEMP2,
ZNF503-AS2,
MIR181A1HG,
DBIL5P,
HDAC6,
MZF1-AS1,
ARMCX4,
LINC00271,
ZNF717,
LOC100132057,
LOC100132111,
CALML3-AS1,
NDUFA6-AS1,
FRG1HP,
FCGR1CP,
GXYLT1P3,
GOLGA8F,
DCAF13P3,
IPO5P1,
MSC-AS1,
SMIM9,
FAM66A,
CD24,
UXT-AS1,
JHDM1D-AS1,
UBE2Q2P2,
TEN1,
JMJD7,
PLA2G4B,
LINC00930,
PDCD6IP,
HECTD2-AS1,
ZFHX4-AS1,
FAR2P2,
LOC100233156,
PCED1B-AS1,
PIGK,
LOC100270746,
LOC100270804,
LINC00940,
ERVV-2,
MEF2B,
ZNRF2P2,
NFE2L3P2,
LINC00894,
BCDIN3D-AS1
|
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 | - |
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