GJC2 Gene
protein-coding GIFtS: 54
GCID: GC01P228337
|
|
gap junction protein, gamma 2, 47kDa(Previous names: gap junction protein, alpha 12, 47kDa )
(Previous symbol: GJA12)
| |
Aliases
for GJC2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Gap Junction Protein, Gamma 2, 47kDa1 2 | | PMLDAR2 5 | | GJA121 2 3 5 | | Gap Junction Protein, Alpha 12, 47kDa1 | | SPG441 2 5 | | Connexin-46.63 | | CX46.61 2 | | Connexin-473 | | Gap Junction Alpha-12 Protein2 3 | | Gap Junction Gamma-2 Protein2 | | Cx472 3 | | Connexin-46.63 | | CX471 5 | | Connexin-473 | | HLD22 5 | | Cx46.63 | | LMPH1C2 5 | | |
Export aliases for GJC2 gene to outside databasesPrevious GC identifers: GC01P226405 GC01P198852 |
Summaries
for GJC2 gene(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 GJC2:
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexinsand comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in centralmyelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomalrecessive Pelizaeus-Merzbacher-like disease-1. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442Function: 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. May play a role in myelination incentral and peripheral nervous systems
 summary
for GJC2: 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 GJC2
|
Genomic Views
for GJC2 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_167186.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GJC2 gene promoter:
GCNF CUTL1 AP-4 YY1 Max HEN1 GCNF-1 GCNF-2 ATF6 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for GJC2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJC2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q42.13 Ensembl cytogenetic band: 1q42.13 HGNC cytogenetic band: 1q41-q42GJC2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P228337: view genomic region
(about GC identifiers)
Start:
|
228,337,553 bp from pter |
End:
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228,347,527 bp from pter |
Size:
|
9,975 bases |
Orientation:
|
plus strand |
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Proteins
for GJC2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442 (See
protein sequence)Recommended Name: Gap junction gamma-2 protein Size: 439 amino acids; 47002 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Caution: It is uncertain whether Met-1 or Met-4 is the initiator
Sequence caution: Sequence=AAB94511.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=AAH35840.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: O43440 Q7Z7J2 Q8IWJ9Explore the universe of human proteins at neXtProt for GJC2: NX_Q5T442
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5T442
GJC2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065168.2
ENSEMBL proteins: ENSP00000355675 Reactome Protein details: Q5T442
Human Recombinant Protein Products for GJC2:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
GJC2 for ontologies About GeneDecksing
GJC2 Antibody Products:
Assay Products for GJC2: |
Protein
Domains /
Families
for GJC2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GJC2 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5T442ProtoNet protein and cluster: Q5T442 1 Blocks protein family: IPB013092 Connexin
UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442Similarity: Belongs to the connexin family. Gamma-type subfamily |
Function
for GJC2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: CXG2_HUMAN, Q5T442Function: 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. May play a role in myelination incentral and peripheral nervous systems Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005243 | gap junction channel activity |
IEA | -- |
GJC2 for ontologies About GeneDecksing
Phenotypes:
7 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Gjc2):
GJC2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Gjc2tm1Paul for GJC2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GJC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GJC2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: GJC2 (NM_020435) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GJC2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC2 |
|
Pathways & Interactions
for GJC2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Gap junction assembly | | | 2 | Membrane Trafficking | | | 3 | Calcium Regulation in the Cardiac Cell | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for GJC2
5 
Reactome Pathways for GJC2
GJC2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GJC2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 20)
5/21 Interacting proteins for GJC2 (Q5T4423 ENSP000003556754) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
GJC2 for ontologies About GeneDecksing
|
Drugs & Compounds
for GJC2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Compounds for GJC2 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| Gap 26 | Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release | [197250-15-0] | | Gap 27 | Selective gap junction blocker | [198284-64-9] |
Search CenterWatch for drugs/clinical trials and news about GJC2 / CXG2
|
Transcripts
for GJC2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GJC2 gene: NM_020435.3 Unigene Clusters for GJC2: Gap junction protein, gamma 2, 47kDa Hs.100072 [show with all ESTs], Hs.743715 [show with all ESTs]Unigene Representative Sequences: BC089439, AY2851611 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000366714(uc001hsk.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GJC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GJC2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GJC2 (NM_020435) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GJC2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC2 |
Additional cDNA sequence: AY285161.1 1 DOTS entry: DT.455578 24/32 AceView cDNA sequences (see all 32): BF061637 AY285161 BF000416 NM_020435 BC035840 AI240177 AI445146 AI868661 BM723652 BM717145 BG236840 AW119155 AI928698 AI685044 AW166439 BM809041 AI819765 AI734863 AW007036 AI871332 AI937251 BM717136 BM695408 BM727416
GeneLoc Exon Structure
|
Expression
for GJC2 gene
(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
| GJC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGGGGGAAT
About this image
See GJC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GJC2
SOURCE GeneReport for Unigene clusters: Hs.100072 Hs.743715
UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442Tissue specificity: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletalmuscles
SABiosciences Expression via Pathway-Focused PCR Arrays including GJC2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GJC2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GJC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJC2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC2 |
Orthologs
for GJC2 gene
(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 GJC2 gene from 4/11 species (see all 11) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
GJC21 |
gap junction protein, gamma 12, 47kDa |
64.15(n)
61.31(a) |
|
420397 NM_001199581.1 NP_001186510.1 |
lizard
(Anolis carolinensis) |
Reptilia |
GJC26 |
-- |
56(a) |
1 ↔ 1 |
6(3167105-3168352) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.28952 |
Transcribed sequence with weak similarity to protein more |
77.56(n) |
|
142020040 |
zebrafish
(Danio rerio) |
Actinopterygii |
cx47.16 |
connexin 47.1 |
53(a) |
1 ↔ 1 |
2(3967127-3992746) |
ENSEMBL Gene Tree for GJC2 (if available)
TreeFam Gene Tree for GJC2 (if available) |
Paralogs
for GJC2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GJC2 gene
- GJB32 GJA102 GJB62 GJD32 GJB42 GJB22 GJB72 GJA42
- GJC12 GJA12 GJB52 GJA52 GJD22 GJA32 GJA92 GJA82
- GJB12
8 SIMAP similar genes for GJC2 using alignment to 2 protein entries: CXG2_HUMAN (see all proteins):GJC1 GJD2 DKFZp686P0738 GJB2 GJA4 GJA9
GJA3 GJA8
GJC2 for paralogs About GeneDecksing
|
Genomic Variants
for GJC2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GJC2 (228337553 - 228347527 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GJC2
1 CNV: 6812
Human Gene Mutation Database (HGMD): GJC2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJC2 |
|
Disorders
/ Diseases
for GJC2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GJC2 for disorders About GeneDecksing
OMIM gene information: 608803
OMIM disorders: 608804 613206 613480
UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442
Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known asPelizaeus-Merzbacher-like disease autosomal recessive type 1. HLD2 is an autosomal recessive hypomyelinatingleukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthriaand progressive spasticity Defects in GJC2 are the cause of spastic paraplegia autosomal recessive type 44 (SPG44) [MIM:613206]. A formof spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness andspasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptomsmay include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes whenwalking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness andstiffness may spread to other parts of the body Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C) [MIM:613480]. LMPH1C is a chronicdisabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients withlymphedema suffer from recurrent local infections and physical impairment
17  diseases for GJC2: About MalaCardspelizaeus-merzbacher-like disease pelizaeus-merzbacher-like disease 1 peripheral neuropathy pelizaeus-merzbacher disease
spastic paraplegia 44 hallermann-streiff syndrome spastic paraplegia neuropathy
hereditary spastic paraplegia paraplegia lymphedema spasticity
neuronitis leukodystrophy spastic ataxia nystagmus
ataxia
2 diseases from the University of Copenhagen DISEASES database for GJC2:Pelizaeus-Merzbacher disease Hallermann-Streiff syndrome 2 Novoseek disease relationships for GJC2 gene About this table
Export disorders for GJC2 gene to outside databases
|
Publications
for GJC2 gene (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 GJC2 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with GJC2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. (PubMed id 19056803)1, 2, 3, 9 Orthmann-Murphy J.L....Pareyson D. (2008)
- Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. (PubMed id 15192806)1, 2, 9 Uhlenberg B.... Gaertner J. (2004)
- GJC2 missense mutations cause human lymphedema. (PubMed id 20537300)1, 2 Ferrell R.E....Finegold D.N. (2010)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- 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)
- Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. (PubMed id 18521858)1, 9 Ruf N. and Uhlenberg B. (2009)
- GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. (PubMed id 18094336)1, 9 Henneke M....Gartner J. (2008)
- Two novel gap junction protein alpha 12 gene mutation s in two Chinese patients with Pelizaeus-Merzbacher-like disease. (PubMed id 19423250)1, 9 Wang J....Jiang Y. (2010)
- Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. (PubMed id 17344063)1, 9 Orthmann-Murphy J.L....Scherer S.S. (2007)
- A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. (PubMed id 17031678)1, 9 Salviati L....Laverda A. (2007)
|
External Searches for GJC2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GJC2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GJC2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GJC2 gene(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
|
| Name | Description |
| PharmGKB entry for GJC2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJC2 |
|
| | |
About This Section
| Patent Information for GJC2 gene:
Search GeneIP for patents involving GJC2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GJC2 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section
|
 | |
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for GJC2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GJC2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GJC2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GJC2 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GJC2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GJC2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for GJC2 | | OriGene Custom Protein Services for GJC2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GJC2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJC2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJC2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJC2 |
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| | | | Tocris compounds for GJC2 |
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 | | | GJC2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC2 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for GJC2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC2 |
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