Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GJB7 Gene

protein-coding   GIFtS: 47
GCID: GC06M087992

Gap Junction Protein, Beta 7, 25kDa

(Previous names: gap junction protein, beta 7)
  See related diseases
at  

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

Aliases
Gap Junction Protein, Beta 7, 25kDa1 2     connexin-252
CX252 3 5     connexin252
Connexin 251 2     Gap Junction Beta-7 Protein2
Gap Junction Protein, Beta 71     Connexin-253
bA136M9.12     Cx253

External Ids:    HGNC: 166901   Entrez Gene: 3755192   Ensembl: ENSG000001644117   OMIM: 6119215   UniProtKB: Q6PEY03   

Export aliases for GJB7 gene to outside databases

Previous GC identifers: GC06M087989 GC06M087988 GC06M088049 GC06M085209


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GJB7 Gene:
Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly
connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels,
each of which contains 6 connexin subunits (Sohl et al., 2003 (PubMed 12881038)).(supplied by OMIM, Mar 2008)

GeneCards Summary for GJB7 Gene: 
GJB7 (gap junction protein, beta 7, 25kDa) is a protein-coding gene. Diseases associated with GJB7 include peripheral neuropathy, and neuropathy, and among its related super-pathways are Gap junction assembly and Translocation of GLUT4 to the Plasma Membrane. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXB7_HUMAN, Q6PEY0
Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,
through which materials of low MW diffuse from one cell to a neighboring cell (By similarity)

summary for GJB7 Gene:
Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic
cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion
of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and
second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells
and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid
responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves
are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct
permeability, selectivity and functional properties. Pannexins are related to connexins and can also form
gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a
family of proteins called innexins form these channels. Gap channels are regulated through
post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly
and their physiological properties. They are continuously synthesized and degraded, allowing tissues to
rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological
processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial
electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with
human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and
cardiovascular disease.

Gene Wiki entry for GJB7 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007299.13  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GJB7 gene promoter:
         Pbx1a   MyoD   MIF-1   FAC1   POU2F1   POU2F1b   FOXJ2 (long isoform)   POU2F1a   POU2F1c   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJB7 promoter sequence
   Search SABiosciences Chromatin IP Primers for GJB7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJB7


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

Entrez Gene cytogenetic band: 6q15   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q15

GJB7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB7 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M087992:  view genomic region     (about GC identifiers)

Start:
87,992,696 bp from pter      End:
88,038,996 bp from pter
Size:
46,301 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CXB7_HUMAN, Q6PEY0 (See protein sequence)
Recommended Name: Gap junction beta-7 protein  
Size: 223 amino acids; 25860 Da
Subunit: A connexon is composed of a hexamer of connexins (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, gap junction (By
similarity)
Secondary accessions: B3KXL0 Q96KP0

Explore the universe of human proteins at neXtProt for GJB7: NX_Q6PEY0

Explore proteomics data for GJB7 at MOPED 

GJB7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

GJB7 Protein Expression

REFSEQ proteins: NP_940970.1  
ENSEMBL proteins: 
 ENSP00000435355   ENSP00000358589   ENSP00000296882  
Reactome Protein details: Q6PEY0
Human Recombinant Protein Products for GJB7: 
Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for GJB7
OriGene Custom MassSpec 
OriGene Custom Protein Services for GJB7
GenScript Custom Purified and Recombinant Proteins Services for GJB7
Novus Biologicals GJB7 Protein
Novus Biologicals GJB7 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005922connexon complex IEA--
GO:0016021integral to membrane IEA--

GJB7 for ontologies           About GeneDecksing



GJB7 Antibody Products: 
Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for GJB7
GenScript Custom Superior Antibodies Services for GJB7
Novus Biologicals GJB7 Antibody
Search for Antibodies for GJB7 at Abcam
Browse Antibodies at Cloud-Clone Corp. 
Search ThermoFisher Antibodies for GJB7
LSBio Antibodies in human, mouse, rat for GJB7 

Assay Products for GJB7: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for GJB7
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for GJB7
Browse Enzo Life Sciences for kits & assays
Browse ELISAs at Cloud-Clone Corp. 
Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
GJ: Ion channels / Gap junction proteins (connexins)

IUPHAR Guide to PHARMACOLOGY protein family classification: Cx25 
Connexins and Pannexins

4 InterPro protein domains:
 IPR000500 Connexin
 IPR019570 Connexin_CCC
 IPR013092 Connexin_N
 IPR017990 Connexin_CS

Graphical View of Domain Structure for InterPro Entry Q6PEY0

ProtoNet protein and cluster: Q6PEY0

1 Blocks protein domain: IPB013092 Connexin

UniProtKB/Swiss-Prot: CXB7_HUMAN, Q6PEY0
Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


GJB7 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: CXB7_HUMAN, Q6PEY0
Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,
through which materials of low MW diffuse from one cell to a neighboring cell (By similarity)

Phenotypes:
     1 GenomeRNAi human phenotype for GJB7:

 Increased circadian period len 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for GJB7 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GJB7

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB7 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJB7 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GJB7
8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate GJB7 (see all 10):
hsa-miR-520d-5p hsa-miR-769-5p hsa-miR-516b hsa-miR-597 hsa-miR-581 hsa-miR-3920 hsa-miR-145 hsa-miR-524-5p
SwitchGear 3'UTR luciferase reporter plasmidGJB7 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for GJB7
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJB7

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for GJB7
Sirion Biotech Customized adenovirus for overexpression of GJB7

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for GJB7 (see all 5)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GJB7 (NM_198568)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB7
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB7
Sirion Biotech Customized lentivirus for stable overexpression of GJB7 
                     Customized lentivirus expression plasmids for stable overexpression of GJB7 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for GJB7
Search LifeMap BioReagents cell lines for GJB7
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB7


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for GJB7 About                                                                                                See pathways by source

SuperPathContained pathways About
1Gap junction trafficking
Gap junction trafficking0.74
Gap junction trafficking and regulation0.70
Gap junction assembly0.74
2Membrane Trafficking
Membrane Trafficking0.32
3Signaling in Gap Junctions
Signaling in Gap Junctions0.31
4Hypothetical Network for Drug Addiction
Hypothetical Network for Drug Addiction

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GJB7
    Signaling in Gap Junctions

1 BioSystems Pathway for GJB7
    Hypothetical Network for Drug Addiction

4        Reactome Pathways for GJB7
    Gap junction assembly
Gap junction trafficking
Membrane Trafficking
Gap junction trafficking and regulation



GJB7 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GJB7

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/19 Interacting proteins for GJB7 (ENSP000002968824) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
InteractantInteraction Details
GeneCardExternal ID(s)
GJA1ENSP000002825614STRING: ENSP00000282561
GJA10ENSP000003583584STRING: ENSP00000358358
GJA3ENSP000002411254STRING: ENSP00000241125
GJA4ENSP000003436764STRING: ENSP00000343676
GJA5ENSP000002713484STRING: ENSP00000271348
About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007154cell communication IEA--

GJB7 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Compounds for GJB7 available from Tocris Bioscience    About this table
CompoundAction CAS #
Gap 27Selective gap junction blocker[198284-64-9]
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide [1315378-72-3]
Carbenoxolone disodiumGap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase[7421-40-1]
10PanxPanx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions[955091-53-9]

4 IUPHAR Ligands for GJB7 (Cx25)    About this table 
LigandTypeActionAffinityPubmed IDs
flufenamic acid
InhibitorNone--
octanol
InhibitorNone--
Ca2+
InhibitorNone--
carbenoxolone
InhibitorNone--

Search CenterWatch for drugs/clinical trials and news about GJB7 / CXB7

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GJB7 gene: 
NM_198568.2  

Unigene Cluster for GJB7:

Gap junction protein, beta 7, 25kDa
Hs.146727  [show with all ESTs]
Unigene Representative Sequence: NM_198568
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000525899(uc003plo.2) ENST00000369576 ENST00000442973 ENST00000296882

miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GJB7
8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate GJB7 (see all 10):
hsa-miR-520d-5p hsa-miR-769-5p hsa-miR-516b hsa-miR-597 hsa-miR-581 hsa-miR-3920 hsa-miR-145 hsa-miR-524-5p
SwitchGear 3'UTR luciferase reporter plasmidGJB7 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for GJB7
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJB7
Clone
Products:
     
OriGene clones in human, mouse for GJB7 (see all 5)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GJB7 (NM_198568)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB7
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB7
Sirion Biotech Customized lentivirus for stable overexpression of GJB7 
                     Customized lentivirus expression plasmids for stable overexpression of GJB7 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for GJB7
OriGene qSTAR qPCR primer pairs in human, mouse for GJB7
SABiosciences RT2 qPCR Primer Assay in human, mouse / rat GJB7
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJB7
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJB7

Additional mRNA sequence: 

AK127554.1 BC057813.1 

1 DOTS entry:

DT.100686383 

14 AceView cDNA sequences:

AK127554 AA749214 BM976147 BU679354 NM_198568 CA311893 BC057813 BQ028678 
CB990421 CB991778 AW264672 CB991210 AI014718 AA702791 

GeneLoc Exon Structure


(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GJB7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGGGTAGAGA
GJB7 Expression
About this image


See GJB7 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.146727

UniProtKB/Swiss-Prot: CXB7_HUMAN, Q6PEY0
Tissue specificity: Weakly expressed in placenta

    SABiosciences Expression via Pathway-Focused PCR Array including GJB7: 
          Gap Junctions in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for GJB7
OriGene qSTAR qPCR primer pairs in human, mouse for GJB7
SABiosciences RT2 qPCR Primer Assay in human, mouse / rat GJB7
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJB7
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJB7
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB7

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GJB7 gene from 3/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia GJB71 gap junction protein, beta 7, 25kDa 89.8(n)
89.95(a)
  100687173  XM_003431692.1  XP_003431740.1 
African clawed frog
(Xenopus laevis)
Amphibia BC055269.12   -- 73.83(n)    BC055269.1 
zebrafish
(Danio rerio)
Actinopterygii cx28.81 connexin 28.8 60.28(n)
57.94(a)
  566668  NM_001025544.2  NP_001020715.1 


ENSEMBL Gene Tree for GJB7 (if available)
TreeFam Gene Tree for GJB7 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for GJB7 gene
GJB32  GJA102  GJB62  GJB42  GJB22  GJA42  GJB52  GJA12  
GJC12  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  GJB12  
17 SIMAP similar genes for GJB7 using alignment to 2 protein entries:     CXB7_HUMAN (see all proteins):
GJB5    GJB4    GJB3    GJB1    GJB2    GJC1
GJB6    GJA3    GJA8    GJA1    GJC3    GJA4
GJA10    GJA5    GJA9    GJD3    GJD4

GJB7 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/765 SNPs in GJB7 are shown (see all 765)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs121969741,2
C,F--87992242(+) ATTACC/TTGCAT 1 -- int11Minor allele frequency- T:0.03NA 120
rs1494573751,2
--87992256(+) TGCAGA/GCTAGA 1 -- int10--------
rs1831253721,2
--87992376(+) TGTCTA/GGAACA 1 -- int10--------
rs22404591,2
C,F,A,H--87992408(+) TGACCA/GCTGCT 1 -- int118Minor allele frequency- G:0.35NS EA NA WA CSA 974
rs22404601,2
C,F,A,H--87992435(+) GACCAT/CGTAAT 1 -- int114Minor allele frequency- C:0.46NA WA CSA EA 602
rs168789071,2
C,F--87992462(+) ATTGCG/ACATGA 1 -- int16Minor allele frequency- A:0.02NA CSA WA 262
rs1430496211,2
--87992587(+) ATTTCA/TTAGCC 1 -- int10--------
rs1482163241,2
--87992726(+) ATTCTA/GAAGAA 1 -- ut310--------
rs1412192711,2
C--87992734(+) GAAATA/GTACAT 1 -- ut310--------
rs32142441,2
C--87992797(+) ATAGA-/AAAGT 
        
AAAGA
1 -- ut310--------

HapMap Linkage Disequilibrium report for GJB7 (87992696 - 88038996 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for GJB7:    About this table     
Variant IDTypeSubtypePubMed ID
esv2667119CNV Deletion23128226
nsv507346CNV Insertion20534489
nsv349083CNV Loss16902084
nsv5386CNV Loss18451855
nsv823771CNV Loss20364138
dgv1991e1CNV Complex17122850

SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing GJB7
DNA2.0 Custom Variant and Variant Library Synthesis for GJB7

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 611921    OMIM disorders: --

3 diseases for GJB7:    About MalaCards
peripheral neuropathy    neuropathy    neuronitis


GJB7 for disorders           About GeneDecksing


Export disorders for GJB7 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)
About This Section

PubMed articles for GJB7 gene integrated from 9 sources:
(articles sorted by number of sources associating them with GJB7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (2004)
  2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
  3. Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. (PubMed id 12881038)1, 2 Soehl G.... Willecke K. (2003)
  4. Structural and functional diversity of connexin genes in the mouse and human genome. (PubMed id 12108537)1, 2 Willecke K.... Soehl G. (2002)
  5. Cloning and functional expression of a novel human connexin-25 gene. (PubMed id 12064583)2, 9 Bondarev I.... Bertram J.S. (2001)
  6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 375519 HGNC: 16690 AceView: GJB7 Ensembl:ENSG00000164411 euGenes: HUgn375519
ECgene: GJB7 H-InvDB: GJB7

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for GJB7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for GJB7 gene:
Search GeneIP for patents involving GJB7

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
 EMD Millipore Custom Antibody & Bulk Services
 EMD Millipore Preclinical / Clinical Development Services
 EMD Millipore Immunoassay Services
 EMD Millipore Target Screening & Profiling Services

  
 Browse Antibodies   Browse Cell Culture Products  
 Browse ELISAs   Browse Flow Cytometry Kits  
 Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
 Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
 Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
 Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
 Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
 Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
 Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
 Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
 Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for GJB7  
 OriGene qPCR primer pairs and template standards for GJB7   OriGene Protein Over-expression Lysate for GJB7  
 OriGene Custom Mass Spec   OriGene clones in human, mouse for GJB7  
 OriGene qSTAR qPCR primer pairs in human, mouse for GJB7   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
 Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
 OriGene Custom Antibody Services for GJB7   OriGene Custom Protein Services for GJB7  

 
 
 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GJB7
 QIAGEN SeqTarget long-range PCR primers for resequencing GJB7
 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJB7
 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJB7
 QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJB7
 QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJB7
 GenScript Custom Purified and Recombinant Proteins Services for GJB7 GenScript cDNA clones with any tag delivered in your preferred vector for GJB7
 GenScript Custom Assay Services for GJB7 GenScript Custom Superior Antibodies Services for GJB7
 GenScript Custom overexpressing Cell Line Services for GJB7 CloneReady with Over 120,000 Genes
 Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
 Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
 Custom Peptide Services
 Search for Antibodies & Assays

 Regulatory tfbs in GJB7 promoter
 Search Chromatin IP Primers for GJB7
 RT2 qPCR Primer Assay in human, mouse / rat GJB7
 Search GNC Networks for GJB7
 SABiosciences PCR Arrays including human, mouse / rat GJB7
 Tocris compounds for GJB7
 Browse Sino Biological Proteins and Antibodies
 Browse Sino Biological Cell Lysates
 Browse Sino Biological cDNA Clones
 4000+ Proteins
 Search Sino Biological for antibodies, proteins & pathways
 Protein Production Services
 Transfection Reagents
 Protein A/G/L resins
 Isotyping reagents
 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
 Novus Tissue Slides
 GJB7 antibodies
 GJB7 proteins
 GJB7 lysates
 Search for Antibodies for GJB7 at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for GJB7
 Custom Antibody / Protein Production Service
 Bulk Purchasing
 Advantages of Rabbit Monoclonal antibodies
 Abcam protocols and scientific support
 Browse ProSpec Recombinant Proteins




 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.
 Search LifeMap BioReagents cell lines for GJB7
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB7
 SwitchGear 3'UTR luciferase reporter plasmids for GJB7
 SwitchGear Promoter luciferase reporter plasmids for GJB7
 Search ThermoFisher Antibodies for GJB7
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB7
 inGenious Targeting Laboratory - Custom generated mouse model solutions for GJB7
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GJB7
Customized:
 lentivirus for stable overexpression of GJB7
 lentivirus expression plasmids for stable overexpression of GJB7
 adenovirus for overexpression of GJB7
 LSBio Antibodies in human, mouse, rat for GJB7
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

View Random Gene

Category
(GIFtS: 73)
transforming growth factor, beta 1
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      GJB7 gene at Home site.
hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4