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ZNF683 Gene

protein-coding   GIFtS: 43
GCID: GC01M026688

Zinc Finger Protein 683

  Search for ZNF683
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Zinc Finger Protein 6831 2
Hypothetical Protein MGC334141 2

External Ids:    HGNC: 284951   Entrez Gene: 2571012   Ensembl: ENSG000001760837   UniProtKB: Q8IZ203   

Export aliases for ZNF683 gene to outside databases

Previous GC identifers: GC01M026373 GC01M026560 GC01M024942


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ZNF683 Gene:
ZNF683 (zinc finger protein 683) is a protein-coding gene. An important paralog of this gene is PRDM1.

UniProtKB/Swiss-Prot: ZN683_HUMAN, Q8IZ20
Function: May be involved in transcriptional regulation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZNF683 gene promoter:
         HOXA9B   HOXA9   GR   USF1   AML1a   GR-beta   HEN1   USF-1   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF683 promoter sequence
   Search Chromatin IP Primers for ZNF683

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZNF683


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.11

ZNF683 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF683 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M026688:  view genomic region     (about GC identifiers)

Start:
26,688,125 bp from pter      End:
26,701,013 bp from pter
Size:
12,889 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ZN683_HUMAN, Q8IZ20 (See protein sequence)
Recommended Name: Zinc finger protein 683  
Size: 524 amino acids; 56905 Da
Sequence caution: Sequence=AAH28731.2; Type=Erroneous initiation; Sequence=AAH29505.1; Type=Erroneous initiation;
Sequence=CAI15857.2; Type=Erroneous initiation; Sequence=CAI15858.2; Type=Erroneous initiation;
Secondary accessions: Q5T141 Q5T146 Q5T147 Q5T149 Q8NEN4
Alternative splicing: 2 isoforms:  Q8IZ20-1   Q8IZ20-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZNF683: NX_Q8IZ20

Explore proteomics data for ZNF683 at MOPED


See ZNF683 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001108231.1  NP_775845.2  

ENSEMBL proteins: 
 ENSP00000384782   ENSP00000344095   ENSP00000411289   ENSP00000411290   ENSP00000412881  
 ENSP00000406734   ENSP00000391584   ENSP00000401961   ENSP00000388792   ENSP00000363320  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ZNF: Zinc fingers, C2H2-type

3 InterPro protein domains:
 IPR015880 Znf_C2H2-like
 IPR013087 Znf_C2H2/integrase_DNA-bd
 IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry Q8IZ20

ProtoNet protein and cluster: Q8IZ20

UniProtKB/Swiss-Prot: ZN683_HUMAN, Q8IZ20
Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
Similarity: Contains 4 C2H2-type zinc fingers


ZNF683 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ZN683_HUMAN, Q8IZ20
Function: May be involved in transcriptional regulation

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IEA--
GO:0046872metal ion binding IEA--
     
ZNF683 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for ZNF683:
 Increased cell number in G1, a 

     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Zfp683):
 hematopoietic system  immune system 

ZNF683 for phenotypes           About GeneDecksing

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ZN683_HUMAN, Q8IZ20: Nucleus (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus4
cytosol1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

ZNF683 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZNF683
Interactions:

    Search GeneGlobe Interaction Network for ZNF683

Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001779natural killer cell differentiation IEA--
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated IEA--

ZNF683 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for ZNF683 (ZN683)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ZNF683 gene (2 alternative transcripts): 
NM_001114759.1  NM_173574.2  

Unigene Cluster for ZNF683:

Zinc finger protein 683
Hs.353208  [show with all ESTs]
Unigene Representative Sequence: BC029505
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000403843 ENST00000349618 ENST00000455900 ENST00000451801 ENST00000454975
ENST00000453132 ENST00000423508 ENST00000416125 ENST00000436292(uc001bmh.1 uc001bmg.1)
ENST00000374204(uc009vsj.1)
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Additional mRNA sequence: 

BC028731.2 BC029505.1 

6 DOTS entries:

DT.95153668  DT.453548  DT.100736834  DT.95255530  DT.95157627  DT.95158020 

Selected AceView cDNA sequences (see all 48):

BE551217 BI837101 BC029505 BC028731 AI215526 NM_173574 CD359087 BM923195 
BM560159 BM906238 BI908040 BX098065 BM922911 AA629337 BI826525 AW207552 
BI826341 BM562225 BM563735 AI560530 BI765885 BQ073071 BI825852 BI907715 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ZNF683 (see all 11)    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g ^ 9 ^ 10 ^ 11
SP1:                          -     -     -     -                                                                                 
SP2:                          -     -     -     -                                                                       -         
SP3:              -     -     -     -     -     -                                                                                 
SP4:        -     -     -     -     -     -     -                                                                                 
SP5:                                -     -     -                                                                                 


ECgene alternative splicing isoforms for ZNF683

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ZNF683 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ZNF683 Expression
About this image

ZNF683 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ZNF683 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.353208
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ZNF683 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Zfp6835 predicted gene 13060   --   4 (66.50 cM) 134053838 
zebrafish
(Danio rerio)
Actinopterygii CABZ01072143.16
Uncharacterized protein
11(a)
many ↔ many
Zv9_NA866(224-11368) ENSDARG00000088921
fruit fly
(Drosophila melanogaster)
Insecta CG43746
--
1(a)
1 ↔ 1
3R(19234922-19297216)


ENSEMBL Gene Tree for ZNF683 (if available)
TreeFam Gene Tree for ZNF683 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ZNF683 gene
PRDM12  ZNF8272  
Selected SIMAP similar genes for ZNF683 using alignment to 3 protein entries:     ZN683_HUMAN (see all proteins) (see all similar genes):
kr-znf3    ZNF818P    ZNF55    OVOL3    ZNF468    ZFS-5
ZNF808    PLAGL1    ZNF    DKFZp313M0722    ZNF323    HZF30
DKFZp666C237    ZNF234    ZNF664    DKFZp434J0650    HZF36    ZFS-2

ZNF683 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ZNF683 (see all 371)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs715810591,2
C,F--24944254(+) TATGG-/AAA/
        
AAAAA
4 -- int1 cds12NA CSA 4
rs1146229791,2
F--26687725(+) ACCTCG/ACAACG 2 -- int11Minor allele frequency- A:0.05WA 118
rs1458119841,2
--26687875(+) CAGCGC/TGCTGG 2 -- int10--------
rs1444911831,2
--26687975(+) AGGCAA/GGCACC 2 -- int10--------
rs1466739911,2
--26687977(+) GCAAGA/CACCGC 2 -- int10--------
rs115853761,2
C,H--26688092(+) CACACC/ATAAAC 2 -- int16Minor allele frequency- A:0.00NS EA NA 408
rs1402210001,2
C--26688125(+) AAGCAC/TGACAG 2 -- ut310--------
rs1456311311,2
C,F--26688173(+) CCAGGG/AGAGTC 4 /P /L mis11Minor allele frequency- A:0.00NA 4550
rs115838971,2
C,F,H--26688181(+) GTCCCG/CGCACT 4 /A syn111Minor allele frequency- C:0.10NA NS EA CSA WA EU 5805
rs1815457401,2
C--26688187(+) GCACTA/GCTCAG 4 S syn10--------

HapMap Linkage Disequilibrium report for ZNF683 (26688125 - 26701013 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for ZNF683:    About this table    
Variant IDTypeSubtypePubMed ID
nsv871165CNV Loss21882294

Human Gene Mutation Database (HGMD): ZNF683
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ZNF683
DNA2.0 Custom Variant and Variant Library Synthesis for ZNF683

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ZNF683 for disorders           About GeneDecksing

Genetic Association Database (GAD): ZNF683

Export disorders for ZNF683 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ZNF683 gene integrated from 10 sources:
(articles sorted by number of sources associating them with ZNF683)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
  5. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 257101 HGNC: 28495 AceView: MGC33414 Ensembl:ENSG00000176083 euGenes: HUgn257101
ECgene: ZNF683 H-InvDB: ZNF683

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ZNF683 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ZNF683 gene:
Search GeneIP for patents involving ZNF683

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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