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GJB5 Gene

protein-coding   GIFtS: 58
GCID: GC01P035220

Gap Junction Protein, Beta 5, 31.1kDa

(Previous names: gap junction protein, beta 5 (connexin 31.1), gap junction...)
  See GJB5-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)
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Aliases
Gap Junction Protein, Beta 5, 31.1kDa1 2     Gap Junction Beta-5 Protein2
Gap Junction Protein, Beta 5 (Connexin 31.1)1 2     Gap Junctional Protein Cx31.12
CX31.12 5     Connexin-31.13
Connexin 31.11     Cx31.13
Gap Junction Protein, Beta 51     

External Ids:    HGNC: 42871   Entrez Gene: 27092   Ensembl: ENSG000001892807   OMIM: 6044935   UniProtKB: O953773   

Export aliases for GJB5 gene to outside databases

Previous GC identifers: GC01P035042 GC01P034276 GC01P034647 GC06M087990 GC00M9U0074 GC01P034889 GC01P034993 GC01P033338


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GJB5 Gene:
This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction
protein involved in intercellular communication related to epidermal differentiation and environmental sensing.
This gene has been linked to non-small cell lung cancer. (provided by RefSeq, Nov 2012)

GeneCards Summary for GJB5 Gene:
GJB5 (gap junction protein, beta 5, 31.1kDa) is a protein-coding gene. Diseases associated with GJB5 include erythrokeratodermia variabilis, and lung cancer. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXB5_HUMAN, O95377
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

summary for GJB5 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 GJB5 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJB5 gene promoter:
         Max1   NF-1/L   NF-1   Sox5   RFX1   C/EBPalpha   S8   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJB5 promoter sequence
   Search Chromatin IP Primers for GJB5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJB5


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

Entrez Gene cytogenetic band: 1p35.1   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

GJB5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P035220:  view genomic region     (about GC identifiers)

Start:
35,220,648 bp from pter      End:
35,224,113 bp from pter
Size:
3,466 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CXB5_HUMAN, O95377 (See protein sequence)
Recommended Name: Gap junction beta-5 protein  
Size: 273 amino acids; 31088 Da
Subunit: A connexon is composed of a hexamer of connexins
Secondary accessions: Q9UPA3

Explore the universe of human proteins at neXtProt for GJB5: NX_O95377

Explore proteomics data for GJB5 at MOPED


See GJB5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_005259.1  
ENSEMBL proteins: 
 ENSP00000340811  
Reactome Protein details: O95377

GJB5 Human Recombinant Protein Products:

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Novus Biologicals GJB5 Protein
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Browse Proteins at Cloud-Clone Corp.

 
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LSBio Antibodies in human, mouse, rat for GJB5

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Search eBioscience for ELISAs for GJB5 


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

IUPHAR Guide to PHARMACOLOGY protein family classification: Cx31.1
Connexins and Pannexins

5 InterPro protein domains:
 IPR000500 Connexin
 IPR019570 Connexin_CCC
 IPR013092 Connexin_N
 IPR017990 Connexin_CS
 IPR002270 Connexin311

Graphical View of Domain Structure for InterPro Entry O95377

ProtoNet protein and cluster: O95377

1 Blocks protein domain: IPB013092 Connexin

UniProtKB/Swiss-Prot: CXB5_HUMAN, O95377
Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


Find genes that share domains with GJB5           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CXB5_HUMAN, O95377
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

     Genatlas biochemistry entry for GJB5:
gap junction protein beta 5,connexin 31.1,monomer of the connexon (six subunits), expressed in epidermis

Phenotypes:
     3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gjb5):
 embryogenesis  growth/size/body  mortality/aging 

Find genes that share phenotypes with GJB5           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJB5
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJB5

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB5
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJB5

miRNA
Products:
    
miRTarBase miRNAs that target GJB5:
hsa-mir-335-5p (MIRT019030)

Block miRNA regulation of human, mouse, rat GJB5 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate GJB5
SwitchGear 3'UTR luciferase reporter plasmidGJB5 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for GJB5
Predesigned siRNA for gene silencing in human, mouse, rat GJB5

Gene Editing
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GenScript: all cDNA clones in your preferred vector: GJB5 (NM_005268)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB5
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB5

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB5


(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
CXB5_HUMAN, O95377: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5

Gene Ontology (GO): 2 cellular component terms:    About this table

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

Find genes that share ontologies with GJB5           About GenesLikeMe


(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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SuperPaths for GJB5 About    
See pathways by source

SuperPathContained pathways About
1Gap junction trafficking
Gap junction trafficking0.93
Gap junction assembly0.00
Gap junction trafficking and regulation0.93
2Myometrial Relaxation and Contraction Pathways
Calcium Regulation in the Cardiac Cell0.43
3Clathrin derived vesicle budding
Membrane Trafficking0.32
4Signaling in Gap Junctions
Signaling in Gap Junctions0.31


Find genes that share SuperPaths with GJB5           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJB5
    Signaling in Gap Junctions

1 BioSystems Pathway for GJB5
    Calcium Regulation in the Cardiac Cell

1 Reactome Pathway for GJB5
    Gap junction assembly


    Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB5: 
          Cell Junction PathwayFinder in human mouse rat
          Gap Junctions in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for GJB5

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for GJB5 (O953772, 3 ENSP000003408114) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
InteractantInteraction Details
GeneCardExternal ID(s)
GSK3BP498412, 3MINT-8257295 I2D: score=2 
GJA10ENSP000003583584STRING: ENSP00000358358
GJA3ENSP000002411254STRING: ENSP00000241125
GJA4ENSP000003436764STRING: ENSP00000343676
GJA5ENSP000002713484STRING: ENSP00000271348
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Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007154cell communication IEA--
GO:0008544epidermis development TAS9843209
GO:0060708spongiotrophoblast differentiation IEA--
GO:0060713labyrinthine layer morphogenesis IEA--

Find genes that share ontologies with GJB5           About GenesLikeMe



(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 Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for GJB5 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 GJB5 (Cx31.1)    About this table
LigandTypeActionAffinityPubmed IDs
flufenamic acid
InhibitorNone--
octanol
InhibitorNone--
Ca2+
InhibitorNone--
carbenoxolone
InhibitorNone--



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for GJB5 gene: 
NM_005268.3  

Unigene Cluster for GJB5:

Gap junction protein, beta 5, 31.1kDa
Hs.198249  [show with all ESTs]
Unigene Representative Sequence: NM_005268
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000338513(uc001bxu.3)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat GJB5 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate GJB5
SwitchGear 3'UTR luciferase reporter plasmidGJB5 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for GJB5
Predesigned siRNA for gene silencing in human, mouse, rat GJB5
Clone
Products:
     
OriGene clones in human, mouse for GJB5 (see all 6)
OriGene ORF clones in mouse, rat for GJB5
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GJB5 (NM_005268)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB5
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB5
Primer
Products:
    
OriGene qPCR primer pairs and template standards for GJB5
OriGene qSTAR qPCR primer pairs in human, mouse for GJB5
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB5
  QuantiTect SYBR Green Assays in human, mouse, rat GJB5
  QuantiFast Probe-based Assays in human, mouse, rat GJB5

Additional mRNA sequence: 

AF052693.1 AK129509.1 BC004379.1 

3 DOTS entries:

DT.111890  DT.99976441  DT.100033566 

Selected AceView cDNA sequences (see all 45):

BX097620 NM_005268 BM980646 BC004379 BM680488 AK129509 AA235826 AA482378 
BM718035 BG680772 AI288883 AA133635 BF509618 AW176548 BE737158 BM847427 
AA877961 AI686234 AI816748 BE712515 BP353329 AA253214 BV207900 AA479344 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for GJB5    About this scheme

ExUns: 1a · 1b ^ 2a · 2b
SP1:                        
SP2:                        


ECgene alternative splicing isoforms for GJB5

(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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GJB5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CGGGCACCTT
GJB5 Expression
About this image


GJB5 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Hair (Integumentary System)    fully expand to see all 2 entries
         Bulge Stem Cells Bulge
 
 Epithelial Cells
         Fetal Matrix Cells Hair Follicle
 
 Inner Cell Mass (Early Embryonic Tissues)
         Blimp1- mVenus and stella-ECFP genetically modified stem cells
 
 Esophagus (Gastrointestinal Tract)
 
 Placenta (Extraembryonic Tissues)
GJB5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GJB5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.198249
    Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB5: 
          Cell Junction PathwayFinder in human mouse rat
          Gap Junctions in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for GJB5
OriGene qSTAR qPCR primer pairs in human, mouse for GJB5
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB5
QuantiTect SYBR Green Assays in human, mouse, rat GJB5
QuantiFast Probe-based Assays in human, mouse, rat GJB5
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB5

(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 chordates.

Orthologs for GJB5 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gjb51 , 5 gap junction protein, beta 51, 5 78.97(n)1
77.49(a)1
  4 (61.51 cM)5
146221  NM_010291.31  NP_034421.11 
 1273548095 
chicken
(Gallus gallus)
Aves GJB51 gap junction protein, beta 5, 31.1kDa 71.11(n)
67.08(a)
  428225  XM_004947782.1  XP_004947839.1 
lizard
(Anolis carolinensis)
Reptilia GJB56
gap junction protein, beta 5, 31.1kDa
63(a)
1 ↔ 1
GL343594.1(126863-127916)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1017345651 gap junction beta-5 protein-like 65.52(n)
68.24(a)
  101734565  XM_004911610.1  XP_004911667.1 
zebrafish
(Danio rerio)
Actinopterygii cx28.66
cx34.46
(see all 3)
connexin 34.4
(see all 3)
51(a)
49(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
17(14553004-14553838) ENSDARG00000003925
17(24671558-24672700) ENSDARG00000075854


ENSEMBL Gene Tree for GJB5 (if available)
TreeFam Gene Tree for GJB5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GJB5 gene
GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  
GJA12  GJC12  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
GJB12  
17 SIMAP similar genes for GJB5 using alignment to 1 protein entry:     CXB5_HUMAN:
GJB4    GJB2    GJB1    GJB3    GJB7    GJB6
GJA8    GJA3    GJA5    GJA10    GJA9    GJA4
GJA1    GJC3    GJD4    GJD3    GJC1

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(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 GJB5 (see all 114)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs284727551,2
C--35218694(+) ATTCTG/TCCTTC 1 -- us2k14Minor allele frequency- T:0.14NA WA EA 360
rs1152916901,2
C,F--35219004(+) TTCTGT/CATTGA 1 -- us2k11Minor allele frequency- C:0.06WA 118
rs1143523841,2
F--35219078(+) AGAATG/CCTTCA 1 -- us2k11Minor allele frequency- C:0.02NA 120
rs757112771,2
C,F--35219198(+) CAATAC/TAAAAT 1 -- us2k11Minor allele frequency- T:0.04WA 118
rs1403052661,2
--35219235(+) CCCTCA/TTGCCT 1 -- us2k10--------
rs1503606071,2
--35219334(+) CCTTGC/GCATGT 1 -- us2k10--------
rs286340351,2
C,F,H--35219373(+) TCCAAT/CGCTCT 1 -- us2k121Minor allele frequency- C:0.30NS EA NA WA CSA 2347
rs562301421,2
C,F--35219470(+) TATACA/GTCCTT 1 -- us2k17Minor allele frequency- G:0.35WA NA CSA EA 365
rs285042121,2
C,F--35219511(+) GCTCTC/TCCTCT 1 -- us2k1 trp37Minor allele frequency- T:0.33WA NA CSA EA 365
rs799445241,2
F--35219585(+) TGATCT/GCTTTA 1 -- us2k11Minor allele frequency- G:0.03WA 118

HapMap Linkage Disequilibrium report for GJB5 (35220648 - 35224113 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for GJB5:    About this table    
Variant IDTypeSubtypePubMed ID
nsv870700CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing GJB5
DNA2.0 Custom Variant and Variant Library Synthesis for GJB5

(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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OMIM gene information: 604493    OMIM disorders: --

2 diseases for GJB5:    
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erythrokeratodermia variabilis    lung cancer

1 disease from the University of Copenhagen DISEASES database for GJB5:
Erythrokeratodermia variabilis

Find genes that share disorders with GJB5           About GenesLikeMe

Genetic Association Database (GAD): GJB5
Human Genome Epidemiology (HuGE) Navigator: GJB5 (2 documents)

Export disorders for GJB5 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 GJB5 gene, integrated from 10 sources (see all 19):
(articles sorted by number of sources associating them with GJB5)
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world of online information

  1. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PubMed id 9843209)1, 2, 3, 9 Richard G.... Bale S.J. (Nat. Genet. 1998)
  2. Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project. (PubMed id 19339270)1, 4 Canova C....Brennan P. (Cancer Res. 2009)
  3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  4. 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)
  5. Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. (PubMed id 19283857)1, 9 Alexandrino F.... Sartorato E.L. (Am. J. Med. Genet. A 2009)
  6. Cx31.1 acts as a tumour suppressor in non-small cell lung cancer (NSCLC) cell lines through inhibition of cell proliferation and metastasis. (PubMed id 21777377)1 Zhang D....Huang Y. (J. Cell. Mol. Med. 2012)
  7. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
  8. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
  9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  10. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. (PubMed id 19465004)4 Bhalla S....Khullar M. (Biochem. Biophys. Res. Commun. 2009)

(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: 2709 HGNC: 4287 AceView: GJB5 Ensembl:ENSG00000189280 euGenes: HUgn2709
ECgene: GJB5 H-InvDB: GJB5

(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 GJB5 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 GJB5 gene:
Search GeneIP for patents involving GJB5

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



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