Type | Description |
---|---|
Definition | spectrin repeat containing nuclear envelope family member 4 |
Date | Results | Publications |
---|---|---|
2013-05-18 11:37:00 | progressive high-frequency hearing loss in 2 families of Iraqi Jewish ancestry was due to homozygosity for mutation SYNE4 c.228delAT. SYNE4, a gene not previously associated with hearing loss, encodes nesprin-4, a protein expressed in outer hair cells. | 23348741 |
Type | IDs |
---|---|
Synonymous | C19orf46, DFNB76, KASH4, Nesp4 |
Gene |
UniProtKB-ID:
SYNE4_HUMAN
UniprotKB:
Q8N205
UniParc:
UPI00006CA35A,
UPI0000366DDA
EMBL:
AF038458,
AK093764,
AC002116,
BC052573
Ensembl:
ENSG00000181392
KO:
hsa:163183
|
Nucleutide sequences |
EMBL-CDS:
AAH52573.1,
BAC04222.1
Ensembl_TRS:
ENST00000324444,
ENST00000340477
|
Protein sequencees |
Ensembl_PRO:
ENSP00000316130,
ENSP00000343152
RefSeq:
NP_001034965.1,
NP_001284664.1
|
Others |
UniRef100:
UniRef100_Q8N205
UniRef90:
UniRef90_Q8N205
UniRef50:
UniRef50_Q8N205
UniGene:
Hs.436743
CCDS:
CCDS42553.1,
CCDS77285.1
|
{{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 |
---|---|---|---|
32296183 |
A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood |
2020-04-01 | - |
31515488 |
Nat Commun Robert Fragoza , Jishnu Das , Shayne D Wierbowski , Jin Liang , Tina N Tran , Siqi Liang , Juan F Beltran , Christen A Rivera-Erick , Kaixiong Ye , Ting-Yi Wang , Li Yao , Matthew Mort , Peter D Stenson , David N Cooper , Xiaomu Wei , Alon Keinan , John C Schimenti , Andrew G Clark , Haiyuan Yu |
2019-09-12 | - |
28514442 |
Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper |
2017-05-25 | - |
26871637 |
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Cell Xinping Yang , Jasmin Coulombe-Huntington , Shuli Kang , Gloria M Sheynkman , Tong Hao , Aaron Richardson , Song Sun , Fan Yang , Yun A Shen , Ryan R Murray , Kerstin Spirohn , Bridget E Begg , Miquel Duran-Frigola , Andrew MacWilliams , Samuel J Pevzner , Quan Zhong , Shelly A Trigg , Stanley Tam , Lila Ghamsari , Nidhi Sahni , Song Yi , Maria D Rodriguez , Dawit Balcha , Guihong Tan , Michael Costanzo , Brenda Andrews , Charles Boone , Xianghong J Zhou , Kourosh Salehi-Ashtiani , Benoit Charloteaux , Alyce A Chen , Michael A Calderwood , Patrick Aloy , Frederick P Roth , David E Hill , Lilia M Iakoucheva , Yu Xia , Marc Vidal |
2016-02-11 |
USH1C,
PQBP1,
OPTN,
RBM5,
CDK5,
CDK7,
RABEPK,
SRRM1,
NOD1,
CD2BP2,
RBM14,
HAX1,
SLC30A9,
STK25,
SEMA4F,
SLC19A2,
CETP,
SRSF10,
SEPT9,
ALDH1L1,
RCC1,
LDB3,
AKAP10,
SEC63,
PHF21B,
HELQ,
CKB,
ERCC8,
CLCN2,
ZFYVE27,
CLPTM1,
TTC8,
C15orf40,
COL1A2,
BBS5,
ACMSD,
DNAJC19,
CPA2,
C7orf34,
CRH,
CRK,
RDH12,
MIPOL1,
ZNF688,
SLC25A10,
NKX2-5,
CTNS,
CTSD,
UPP2,
CYBB,
CYP11A1,
TSTD2,
DAO,
REM2,
DYX1C1,
DCN,
DDC,
GLIS3,
DGUOK,
DHCR7,
DMD,
E2F6,
TYMP,
EGR2,
FLCN,
EPHX1,
EYA4,
ETFA,
ETV6,
FANCC,
FANCG,
EFEMP1,
MICU2,
ZUFSP,
FCGR3A,
ABCB7,
FGA,
FGFR1,
FH,
DOLK,
KIAA0907,
ARHGEF15,
SETX,
ARHGAP26,
SPG20,
FMO3,
ETHE1,
SLC39A14,
CDK20,
SMUG1,
FXN,
FTSJ1,
MCM9,
GABRA2,
GAD1,
SUMF2,
GALT,
UNC50,
FBXO8
|
26186194 |
The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin Wühr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi |
2015-07-16 | - |
25910212 |
Widespread macromolecular interaction perturbations in human genetic disorders. Cell Nidhi Sahni , Song Yi , Mikko Taipale , Juan I Fuxman Bass , Jasmin Coulombe-Huntington , Fan Yang , Jian Peng , Jochen Weile , Georgios I Karras , Yang Wang , István A Kovács , Atanas Kamburov , Irina Krykbaeva , Mandy H Lam , George Tucker , Vikram Khurana , Amitabh Sharma , Yang-Yu Liu , Nozomu Yachie , Quan Zhong , Yun Shen , Alexandre Palagi , Adriana San-Miguel , Changyu Fan , Dawit Balcha , Amelie Dricot , Daniel M Jordan , Jennifer M Walsh , Akash A Shah , Xinping Yang , Ani K Stoyanova , Alex Leighton , Michael A Calderwood , Yves Jacob , Michael E Cusick , Kourosh Salehi-Ashtiani , Luke J Whitesell , Shamil Sunyaev , Bonnie Berger , Albert-László Barabási , Benoit Charloteaux , David E Hill , Tong Hao , Frederick P Roth , Yu Xia , Albertha J M Walhout , Susan Lindquist , Marc Vidal |
2015-04-23 | - |
25416956 |
A proteome-scale map of the human interactome network. Cell Thomas Rolland , Murat TaÅan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , Amélie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , Jörg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-László Barabási , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal |
2014-11-20 | - |
23348741 |
The LINC complex is essential for hearing. J. Clin. Invest. Henning F Horn , Zippora Brownstein , Danielle R Lenz , Shaked Shivatzki , Amiel A Dror , Orit Dagan-Rosenfeld , Lilach M Friedman , Kyle J Roux , Serguei Kozlov , Kuan-Teh Jeang , Moshe Frydman , Brian Burke , Colin L Stewart , Karen B Avraham |
2013-02-01 |
Sun2,
Syne4,
Sun1,
SYNE4
|
21900206 |
A directed protein interaction network for investigating intracellular signal transduction. Sci Signal Arunachalam Vinayagam , Ulrich Stelzl , Raphaele Foulle , Stephanie Plassmann , Martina Zenkner , Jan Timm , Heike E Assmus , Miguel A Andrade-Navarro , Erich E Wanker |
2011-09-06 |
KCNE3,
HDAC6,
PDCD6IP,
ZNF605,
TOM1L1,
HMGXB4,
RANBP9,
RWDD2B,
SNUPN,
TSSC4,
ARPC3,
ACTR1B,
CDH13,
CEBPZ,
RBM5,
CDK4,
CDK5,
TRIM13,
EIF1,
DDX39A,
HNRNPR,
RABEPK,
SPRY2,
CDKN1A,
CDK2AP2,
LOC400927-CSNK1E,
RGS19,
CDKN2B,
DSCR3,
IKZF1,
NPM3,
TUBA1B,
TUBB3,
RACK1,
PIAS3,
NDC80,
YAP1,
CDIPT,
TUBGCP3,
TIMM17A,
TAB1,
FST,
STK25,
DEAF1,
KAT5,
GLRX3,
DCTN2,
PRDX4,
RABAC1,
DPYSL4,
CCT7,
CCT4,
DRAP1,
CENPB,
TXNIP,
NPRL2,
GNB5,
CERS1,
CFL1,
MGEA5,
PLK4,
RAI1,
GIPC1,
ZNF266,
UTP14A,
PGRMC1,
RAB10,
YIF1A,
JTB,
GADD45G,
AFG3L2,
C11orf58,
HNRNPA0,
PNRC1,
ADIRF,
COPS6,
IMMT,
SF3B2,
KIF2C,
RAB31,
ADAP1,
PIM2,
RCC1,
NUDT21,
SNRNP35,
CHD3,
STMN2,
HSF2BP,
SPACA9,
RPP14,
FGFR1OP,
FAF1,
ZWINT,
CHGA,
CDC37,
CHGB,
KAT7,
C14orf1,
NUDT5
|
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 | - |
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