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GJD3 Gene

protein-coding   GIFtS: 50
GCID: GC17M038516

Gap Junction Protein, Delta 3, 31.9kDa

(Previous names: gap junction protein, chi 1, 31.9kDa)
(Previous symbol: GJC1)
  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)
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Aliases
Gap Junction Protein, Delta 3, 31.9kDa1 2     Gap Junction Protein, Chi 1, 31.9kDa1
GJC11 2 3 5     Cx30.22
Connexin 31.91 2     connexin-31.92
Gap Junction Alpha-11 Protein2 3     Gap Junction Delta-3 Protein2
Gap Junction Chi-1 Protein2 3     Connexin-31.93
GJA112 3     Cx31.93
CX31.92 5     

External Ids:    HGNC: 191471   Entrez Gene: 1251112   Ensembl: ENSG000001831537   OMIM: 6074255   UniProtKB: Q8N1443   

Export aliases for GJD3 gene to outside databases

Previous GC identifers: GC17M035771 GC17M034313


(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 GJD3 Gene:
This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six
connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a
connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. (provided by
RefSeq, Jul 2008)

GeneCards Summary for GJD3 Gene:
GJD3 (gap junction protein, delta 3, 31.9kDa) is a protein-coding gene. Diseases associated with GJD3 include peripheral neuropathy, and neuropathy. GO annotations related to this gene include ion channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXD3_HUMAN, Q8N144
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 GJD3 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 GJD3 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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJD3 gene promoter:
         NF-1/L   STAT1   ISGF-3   STAT1beta   STAT1alpha   CREB   deltaCREB   FOXO1a   ZIC2/Zic2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJD3 promoter sequence
   Search Chromatin IP Primers for GJD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJD3


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

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.1

GJD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJD3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M038516:  view genomic region     (about GC identifiers)

Start:
38,516,904 bp from pter      End:
38,520,945 bp from pter
Size:
4,042 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CXD3_HUMAN, Q8N144 (See protein sequence)
Recommended Name: Gap junction delta-3 protein  
Size: 294 amino acids; 31933 Da
Subunit: A connexon is composed of a hexamer of connexins (By similarity). Interacts with TJP1
Secondary accessions: Q6ZUW6
Alternative splicing: 2 isoforms:  Q8N144-1   Q8N144-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GJD3: NX_Q8N144

Explore proteomics data for GJD3 at MOPED


See GJD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689343.3  
ENSEMBL proteins: 
 ENSP00000463752   ENSP00000336832  
Reactome Protein details: Q8N144

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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:
GJ: Ion channels / Gap junction proteins (connexins)

IUPHAR Guide to PHARMACOLOGY protein family classification: Cx31.9
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 Q8N144

ProtoNet protein and cluster: Q8N144

1 Blocks protein domain: IPB013092 Connexin

UniProtKB/Swiss-Prot: CXD3_HUMAN, Q8N144
Similarity: Belongs to the connexin family. Delta-type subfamily


GJD3 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: CXD3_HUMAN, Q8N144
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)

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005216ion channel activity IEA--
GO:0005515protein binding IPI12154091
     
GJD3 for ontologies           About GeneDecksing


Phenotypes:
     4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gjd3):
 cardiovascular system  mortality/aging  nervous system  no phenotypic analysis 

GJD3 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Gjd3tm1.2Kwi for GJD3

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJD3
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   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJD3

miRNA
Products:
    
miRTarBase miRNAs that target GJD3:
hsa-mir-671-3p (MIRT037775), hsa-mir-7-5p (MIRT025645)

Block miRNA regulation of human, mouse, rat GJD3 using miScript Target Protectors
3 qRT-PCR Assays for microRNAs that regulate GJD3:
hsa-miR-647 hsa-miR-1266 hsa-miR-4308
SwitchGear 3'UTR luciferase reporter plasmidGJD3 3' UTR sequence
Inhib. RNA
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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
CXD3_HUMAN, Q8N144: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
extracellular1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005887integral component of plasma membrane TAS12154091
GO:0005921gap junction ----
GO:0005922connexon complex IDA12154091
GO:0009986cell surface IDA12154091
GO:0016021integral component of membrane ----

GJD3 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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SuperPaths for GJD3 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
2Clathrin derived vesicle budding
Membrane Trafficking0.32
3Antiarrhythmic Pathway, Pharmacodynamics
Antiarrhythmic Pathway, Pharmacodynamics

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJD3
    Signaling in Gap Junctions

1 Reactome Pathway for GJD3
    Gap junction assembly

1 PharmGKB Pathway for GJD3
    Antiarrhythmic Pathway, Pharmacodynamics


GJD3 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GJD3
Interactions:

    GeneGlobe Interaction Network for GJD3

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

Selected Interacting proteins for GJD3 (Q8N1441, 3 ENSP000003368324) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
InteractantInteraction Details
GeneCardExternal ID(s)
TJP1Q071571, 3, ENSP000002815374EBI-2629520,EBI-79553 I2D: score=2 STRING: ENSP00000281537
GJA1ENSP000002825614STRING: ENSP00000282561
GJA8ENSP000002409864STRING: ENSP00000240986
GJB1ENSP000003549004STRING: ENSP00000354900
GJB2ENSP000003722954STRING: ENSP00000372295
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007154cell communication TAS12154091
GO:0016264gap junction assembly IDA12154091

GJD3 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 Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
5 ApexBio Compounds for GJD3     About this table
CompoundAction CAS #
10PanxPanx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions[955091-53-9]
Gap 26Gap junction blocker peptide, mapping to connexin 43 residue 63-75[197250-15-0]
Gap 27Gap junction blocker peptide[198284-64-9]
GAP-134 Hydrochloridealter conduction pathways and promote cardiac re-entry mechanisms[943134-39-2]
Scrambled 10PanxPanx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions[1315378-72-3]

Compounds for GJD3 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 GJD3 (Cx31.9)    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,
Conferences by KenesGroup, 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 GJD3 gene: 
NM_152219.3  

Unigene Cluster for GJD3:

Gap junction protein, delta 3, 31.9kDa
Hs.444663  [show with all ESTs]
Unigene Representative Sequence: NM_152219
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000578689(uc010cwz.3) ENST00000337376
miRNA
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3 qRT-PCR Assays for microRNAs that regulate GJD3:
hsa-miR-647 hsa-miR-1266 hsa-miR-4308
SwitchGear 3'UTR luciferase reporter plasmidGJD3 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat GJD3
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GenScript: all cDNA clones in your preferred vector: GJD3 (NM_152219)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJD3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJD3
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for GJD3
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  QuantiFast Probe-based Assays in human, mouse, rat GJD3

Additional mRNA sequence: AK125254.1 

3 DOTS entries:

DT.200370  DT.40297504  DT.75138895 

Selected AceView cDNA sequences (see all 58):

BE549939 BC053363 AI380083 AI299868 BF940115 BU169678 AI160193 AA317779 
AW770709 BQ686839 BX094887 AA931517 AI580339 AI342355 AW081888 AI739179 
BF448217 BU159710 BX116651 BM052873 AI703106 AW052173 BF433850 AA310574 

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™, 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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GJD3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATGTAGTTT
GJD3 Expression
About this image


GJD3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Heart (Cardiovascular System)
         Atrioventricular Node Cells Atrioventricular Node
GJD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GJD3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.444663

UniProtKB/Swiss-Prot: CXD3_HUMAN, Q8N144
Tissue specificity: Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein
level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJD3

(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 GJD3 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gjd31 , 5 gap junction protein, delta 31, 5 81.65(n)1
80.22(a)1
  11 (62.89 cM)5
3531551  NM_178596.21  NP_848711.21 
 989821805 
lizard
(Anolis carolinensis)
Reptilia GJD36
gap junction protein, delta 3, 31.9kDa
57(a)
1 ↔ 1
6(69990067-69990795)
tropical clawed frog
(Xenopus tropicalis)
Amphibia gjd31 gap junction protein, delta 3, 31.9kDa 65.24(n)
64.53(a)
  100497705  XM_002940217.2  XP_002940263.1 
zebrafish
(Danio rerio)
Actinopterygii CU694757.16
Gap junction protein
35(a)
many ↔ many
15(6611721-6612566) ENSDARG00000035765


ENSEMBL Gene Tree for GJD3 (if available)
TreeFam Gene Tree for GJD3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GJD3 gene
GJB32  GJA102  GJB62  GJB42  GJB22  GJB72  GJA42  GJB52  
GJA12  GJC12  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
GJB12  
14 SIMAP similar genes for GJD3 using alignment to 2 protein entries:     CXD3_HUMAN (see all proteins):
GJA8    GJB2    GJB1    GJB6    GJA9    GJA5
GJA3    GJA1    GJB7    GJB5    GJB4    GJA4
GJD2    GJC1

GJD3 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 GJD3 (see all 105)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1822848631,2
--38516420(+) CGCCCA/CCCTGG 1 -- ds50010--------
rs739830401,2
C,F--38516512(+) CCCATC/TCTCCG 1 -- ds50011Minor allele frequency- T:0.50WA 2
rs1873546511,2
--38516609(+) AGAGGC/TACTGA 1 -- ds50010--------
rs1457679141,2
--38516619(+) AATCAC/TGCTTG 1 -- ds50010--------
rs1412874691,2
--38516623(+) ACGCTC/TGGGGC 1 -- ds50010--------
rs786095941,2
--38516661(+) TGGCCC/TCTCTC 1 -- ds50010--------
rs1145755931,2
F--38516717(+) TCTCCC/TGCTGT 1 -- ds50011Minor allele frequency- T:0.01WA 118
rs1906958851,2
--38516718(+) CTCCCA/GCTGTA 1 -- ds50010--------
rs1807578441,2
--38516726(+) GTAGCC/TGAGGC 1 -- ds50010--------
rs1853195471,2
--38516727(+) TAGCCA/GAGGCT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for GJD3 (38516904 - 38520945 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for GJD3:    About this table    
Variant IDTypeSubtypePubMed ID
nsv908222CNV Loss21882294
nsv833445CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing GJD3
DNA2.0 Custom Variant and Variant Library Synthesis for GJD3

(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.)
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OMIM gene information: 607425    OMIM disorders: --

4 diseases for GJD3:    
About MalaCards
peripheral neuropathy    neuropathy    neuronitis    cerebritis


GJD3 for disorders           About GeneDecksing


Export disorders for GJD3 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 GJD3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with GJD3)
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  1. Virtual cloning, functional expression, and gating analysis of human connexin31.9. (PubMed id 12176752)1, 2, 3 White T.W.... Bruzzone R. (Am. J. Physiol. 2002)
  2. Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1. (PubMed id 12154091)1, 2, 9 Nielsen P.A....Kumar N.M. (J. Biol. Chem. 2002)
  3. Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system. (PubMed id 19168070)1, 9 Kreuzberg M.M....Willecke K. (J. Mol. Cell. Cardiol. 2009)
  4. Cx30.2 can form heteromeric gap junction channels with other cardiac connexins. (PubMed id 18291099)1 Gemel J....Beyer E.C. (Biochem. Biophys. Res. Commun. 2008)
  5. Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. (PubMed id 17142249)1 Unsworth H.C....Kelsell D.P. (Hum. Mol. Genet. 2007)
  6. Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart. (PubMed id 16772377)1 Bukauskas F.F....Willecke K. (Proc. Natl. Acad. Sci. U.S.A. 2006)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  8. Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. (PubMed id 12881038)1 Soehl G.... Willecke K. (Cell Commun. Adhes. 2003)
  9. Identification and functional expression of HCx31.9, a novel gap junction gene. (PubMed id 12064584)1 Belluardo N....Condorelli D.F. (amp 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 125111 HGNC: 19147 AceView: GJC1 Ensembl:ENSG00000183153 euGenes: HUgn125111
ECgene: GJD3 H-InvDB: GJD3

(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 GJD3 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 GJD3 gene:
Search GeneIP for patents involving GJD3

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



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