| Type | Description |
|---|---|
| Definition | C3 and PZP like alpha-2-macroglobulin domain containing 8 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:25:00 | Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. | 32085876 |
| 2020-09-26 13:06:00 | CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. | 32274568 |
| 2017-05-27 10:26:00 | study delineates a unique form of recessive anterior segment dysgeneses (ASD) and defines a role for CPAMD8, a protein of unknown function, in anterior segment development, implying another pathway for the pathogenicity of ASD | 27839872 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 20628086 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| Type | IDs |
|---|---|
| Synonymous | ASGD8, K-CAP, VIP |
| Gene |
UniProtKB-ID:
A0A494C0S9_HUMAN
UniprotKB:
A0A494C0S9
UniParc:
UPI0000E8AC99
EMBL:
AC008737,
KF456518,
KF456517,
KF511257,
AC020908
Ensembl:
ENSG00000160111
KO:
hsa:27151
|
| Nucleutide sequences |
Ensembl_TRS:
ENST00000651564
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000498697
RefSeq:
XP_011526221.1,
XP_011526219.1,
XP_011526225.1,
XP_011526222.1,
XP_011526227.1,
XP_011526220.1,
XP_016882083.1,
XP_011526224.1,
XP_011526223.1,
XP_011526226.1,
NP_056507.3
|
| Others |
UniRef100:
UniRef100_Q8IZJ3
UniRef90:
UniRef90_Q8IZJ3
UniRef50:
UniRef50_Q8IZJ3
UniGene:
Hs.631644
|
| {{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 |
|---|---|---|---|
| 32274568 |
Hum Genet Juan-Manuel Bonet-Fernández , José-Daniel Aroca-Aguilar , Marta Corton , Ana-Isabel RamÃrez , Susana Alexandre-Moreno , MarÃa-Teresa GarcÃa-Antón , Juan-José Salazar , Jesús-José Ferre-Fernández , Raquel Atienzar-Aroca , Cristina Villaverde , Ionut Iancu , Alejandra Tamayo , Carmen-Dora Méndez-Hernández , Laura Morales-Fernández , Blanca Rojas , Carmen Ayuso , Miguel Coca-Prados , José-Maria Martinez-de-la-Casa , Julián GarcÃa-Feijoo , Julio Escribano |
2020-10-01 | - |
| 32085876 |
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. Ophthalmology Owen M Siggs , Emmanuelle Souzeau , Deepa A Taranath , Andrew Dubowsky , Angela Chappell , Tiger Zhou , Shari Javadiyan , Jillian Nicholl , Lisa S Kearns , Sandra E Staffieri , Andrew Narita , James E H Smith , John Pater , Alex W Hewitt , Jonathan B Ruddle , James E Elder , David A Mackey , Kathryn P Burdon , Jamie E Craig |
2020-06-01 | - |
| 30021884 |
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck |
2018-10-01 | - |
| 28611215 |
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Proc. Natl. Acad. Sci. U.S.A. Teng Fei , Yiwen Chen , Tengfei Xiao , Wei Li , Laura Cato , Peng Zhang , Maura B Cotter , Michaela Bowden , Rosina T Lis , Shuang G Zhao , Qiu Wu , Felix Y Feng , Massimo Loda , Housheng Hansen He , X Shirley Liu , Myles Brown |
2017-06-27 | - |
| 27839872 |
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Am. J. Hum. Genet. Sek-Shir Cheong , Lisa Hentschel , Alice E Davidson , Dianne Gerrelli , Rebecca Davie , Roberta Rizzo , Nikolas Pontikos , Vincent Plagnol , Anthony T Moore , Jane C Sowden , Michel Michaelides , Martin Snead , Stephen J Tuft , Alison J Hardcastle |
2016-12-01 | - |
| 22412388 |
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet. Eimear E Kenny , Itsik Pe'er , Amir Karban , Laurie Ozelius , Adele A Mitchell , Sok Meng Ng , Monica Erazo , Harry Ostrer , Clara Abraham , Maria T Abreu , Gil Atzmon , Nir Barzilai , Steven R Brant , Susan Bressman , Edward R Burns , Yehuda Chowers , Lorraine N Clark , Ariel Darvasi , Dana Doheny , Richard H Duerr , Rami Eliakim , Nir Giladi , Peter K Gregersen , Hakon Hakonarson , Michelle R Jones , Karen Marder , Dermot P B McGovern , Jennifer Mulle , Avi Orr-Urtreger , Deborah D Proctor , Ann Pulver , Jerome I Rotter , Mark S Silverberg , Thomas Ullman , Stephen T Warren , Matti Waterman , Wei Zhang , Aviv Bergman , Lloyd Mayer , Seymour Katz , Robert J Desnick , Judy H Cho , Inga Peter |
2012-01-01 |
LINC00492,
LINC01475,
PRG3,
UBD,
SNX20,
SLCO6A1,
COX15,
IL23R,
PUS10,
CYLD,
RDH10,
SBSPON,
NKX2-3,
TMEM17,
ZNF365,
SLC35D1,
EHBP1,
ACSL6,
GABBR1,
TCERG1L,
SERBP1,
CNNM1,
CPAMD8,
GOT1,
SLC43A3,
HLA-A,
HLA-F,
HLA-G,
HLA-H,
C2orf74,
IL3,
IL12RB2,
INPP5D,
C1orf141,
MOG,
AK3,
CUTC,
PEX13,
ATG16L1,
USP40,
PRG2,
PSMB10,
ENTPD7,
PTGER4,
REL,
RPL7,
SAG,
CCL1,
CCL2,
CCL7,
CCL8,
CCL11,
CCL13,
NOD2,
PAPOLG,
SLC22A4,
SCARNA5,
TERF1,
KCNH6,
SLC25A28,
KIAA1841,
ADO,
DGKD,
NKD1,
PDLIM4,
P4HA2,
KCNB2,
USP34
|
| 20628086 |
Diabetes Care Swneke D Bailey , Changchun Xie , Ron Do , Alexandre Montpetit , Rafael Diaz , Viswanathan Mohan , Bernard Keavney , Salim Yusuf , Hertzel C Gerstein , James C Engert , Sonia Anand , DREAM investigators |
2010-10-01 | - |
| 19913121 |
Am. J. Hum. Genet. Philippa J Talmud , Fotios Drenos , Sonia Shah , Tina Shah , Jutta Palmen , Claudio Verzilli , Tom R Gaunt , Jacky Pallas , Ruth Lovering , Kawah Li , Juan Pablo Casas , Reecha Sofat , Meena Kumari , Santiago Rodriguez , Toby Johnson , Stephen J Newhouse , Anna Dominiczak , Nilesh J Samani , Mark Caulfield , Peter Sever , Alice Stanton , Denis C Shields , Sandosh Padmanabhan , Olle Melander , Claire Hastie , Christian Delles , Shah Ebrahim , Michael G Marmot , George Davey Smith , Debbie A Lawlor , Patricia B Munroe , Ian N Day , Mika Kivimaki , John Whittaker , Steve E Humphries , Aroon D Hingorani , ASCOT investigators , NORDIL investigators , BRIGHT Consortium |
2009-11-01 | - |
| 19010793 |
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum. Mol. Genet. Sergio E Baranzini , Joanne Wang , Rachel A Gibson , Nicholas Galwey , Yvonne Naegelin , Frederik Barkhof , Ernst-Wilhelm Radue , Raija L P Lindberg , Bernard M G Uitdehaag , Michael R Johnson , Aspasia Angelakopoulou , Leslie Hall , Jill C Richardson , Rab K Prinjha , Achim Gass , Jeroen J G Geurts , Jolijn Kragt , Madeleine Sombekke , Hugo Vrenken , Pamela Qualley , Robin R Lincoln , Refujia Gomez , Stacy J Caillier , Michaela F George , Hourieh Mousavi , Rosa Guerrero , Darin T Okuda , Bruce A C Cree , Ari J Green , Emmanuelle Waubant , Douglas S Goodin , Daniel Pelletier , Paul M Matthews , Stephen L Hauser , Ludwig Kappos , Chris H Polman , Jorge R Oksenberg |
2009-02-15 |
LOC101927998,
CHRND,
AXDND1,
CBLN2,
EN1,
NLRP11,
GPC5,
FOXO3,
WDR7,
RAB38,
CPAMD8,
TRIM42,
PDZRN4,
KCNIP1,
NCKAP5,
IGF2R,
JARID2,
C16orf47,
LEKR1,
MET,
MXI1,
PCSK5,
ACP5,
SLC25A36,
RFK,
RELN,
C1GALT1,
BICD1,
RAD21L1,
SGCD,
CSMD1,
SH3GL2,
SVIL,
UGT1A,
ZIC1,
NUBPL,
BUD13,
ASAP2,
LOC90768,
KCNB2
|
| 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
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
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| 排名 | 研究人员 | 文献 |
|---|---|---|
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