GJA8 Gene
protein-coding GIFtS: 61
GCID: GC01P147374
|
|
gap junction protein, alpha 8, 50kDa(Previous names: gap junction protein, alpha 8, 50kD (connexin 50), gap...)
(Previous symbols: CAE1, CZP1, CAE)
| |
Aliases
for GJA8 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, Alpha 8, 50kDa1 2 | | Cell Surface Glycoprotein2 | | CAE11 2 5 | | Connexin 502 | | CX501 2 5 | | Connexin-503 | | CAE1 2 | | Gap Junction Alpha-8 Protein2 | | CZP11 2 | | Gap Junction Membrane Channel Protein Alpha-82 | | Lens Fiber Protein MP702 3 | | Lens Intrinsic Membrane Protein MP702 | | Gap Junction Protein, Alpha 8, 50kD (Connexin 50)1 | | Connexin-503 | | Gap Junction Protein, Alpha 8, 50kDa (Connexin 50)1 | | Cx503 | | MP702 | | |
Export aliases for GJA8 gene to outside databasesPrevious GC identifers: GC01P145594 GC01P144100 GC01P144718 GC01P144882 GC01P144599 GC01P145841 GC01P120788 |
Summaries
for GJA8 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 GJA8:
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fibercells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner.Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, andcataract-microcornea syndrome. (provided by RefSeq, Dec 2009)
UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165Function: 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 GJA8: 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 GJA8
|
Genomic Views
for GJA8 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_167185.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GJA8 gene promoter:
Max1 ER-alpha USF1 RREB-1 Max PPAR-gamma1 USF-1 PPAR-gamma2 Pax-4a c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for GJA8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJA8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q21.1 Ensembl cytogenetic band: 1q21.2 HGNC cytogenetic band: 1q21.1GJA8 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 GC01P147374: view genomic region
(about GC identifiers)
Start:
|
147,374,946 bp from pter |
End:
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147,381,396 bp from pter |
Size:
|
6,451 bases |
Orientation:
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plus strand |
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Proteins
for GJA8 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: CXA8_HUMAN, P48165 (See
protein sequence)Recommended Name: Gap junction alpha-8 protein Size: 433 amino acids; 48229 Da
Subunit: A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Secondary accessions: A7L5M5 Q5VVN9 Q9NP25Explore the universe of human proteins at neXtProt for GJA8: NX_P48165
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P48165
GJA8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005258.2
ENSEMBL proteins: ENSP00000358238 ENSP00000240986 Reactome Protein details: P48165
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
GJA8 for ontologies About GeneDecksing
GJA8 Antibody Products:
Assay Products for GJA8: |
Protein
Domains /
Families
for GJA8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GJA8 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P48165ProtoNet protein and cluster: P48165 2 Blocks protein families: IPB002266 Gap junction alpha-8 protein (Cx50) signature IPB013092 Connexin
UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily |
Function
for GJA8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165Function: 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 GJA8:gap junction protein alpha 8,50kDa,connexin 50 (MP70),expressed in lens,monomer of the connexon (six subunits includingGJA3,GJA8,GJB1,GJB2)
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 GJA8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GJA8 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: GJA8 (NM_005267) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GJA8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJA8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA8 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
GJA8 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for GJA8:
Animal Models:
Mouse knock-outs for GJA8: Gja8tm1Rtm Gja8tm1Paul
1 MGI mutant phenotype (inferred from 8 alleles ) (MGI details for Gja8):
GJA8 for phenotypes About GeneDecksing
|
Pathways & Interactions
for GJA8 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 - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Gap junction assembly | | | 2 | Cell adhesion_Gap junctions | | | 3 | Membrane Trafficking | | | 4 | Sodium channels and transporters: inward current | | | 5 | Potassium transporters: inward current | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 EMD Millipore Pathways for GJA8
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GJA8
1  GeneGo (Thomson Reuters) Pathway for GJA8
1  BioSystems Pathway for GJA8
5 
Reactome Pathways for GJA8
GJA8 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GJA8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 21)
5/22 Interacting proteins for GJA8 (P481653 ENSP000002409864) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
GJA8 for ontologies About GeneDecksing
|
Drugs & Compounds
for GJA8 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
|
GJA8 for compounds About GeneDecksing
Compounds for GJA8 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] |
4 Novoseek chemical compound relationships for GJA8 gene About this table
Search CenterWatch for drugs/clinical trials and news about GJA8 / CXA8
|
Transcripts
for GJA8 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,
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 GJA8 gene: NM_005267.4 Unigene Cluster for GJA8: Gap junction protein, alpha 8, 50kDa Hs.632441 [show with all ESTs]Unigene Representative Sequence: NM_0052672 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000369235(uc021ovm.1) ENST00000240986(uc001epu.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GJA8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GJA8 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GJA8 (NM_005267) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GJA8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJA8 |
1 DOTS entry: DT.75155909 7 AceView cDNA sequences: BQ184886 CD674975 NM_005267 BI459282 BI459278 AI364417 BI463681
GeneLoc Exon Structure
|
Expression
for GJA8 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
| GJA8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGTCTGTGG
About this image
See GJA8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GJA8
SOURCE GeneReport for Unigene cluster: Hs.632441
UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165Tissue specificity: Eye lens
SABiosciences Expression via Pathway-Focused PCR Arrays including GJA8:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GJA8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GJA8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJA8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJA8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA8 |
Orthologs
for GJA8 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 GJA8 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 |
GJA81 |
gap junction protein, alpha 8, 50kDa |
72.61(n)
75.88(a) |
|
395846 NM_204997.1 NP_990328.1 |
lizard
(Anolis carolinensis) |
Reptilia |
GJA86 |
-- |
68(a) |
1 ↔ 1 |
3(161995199-161996428) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.236312 |
Xenopus laevis, clone IMAGE5542071, mRNA |
75.66(n) |
|
BC046682.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
cx44.11 |
connexin 44.1 |
70.61(n)
73.68(a) |
|
114403 NM_131809.2 NP_571884.2 |
ENSEMBL Gene Tree for GJA8 (if available)
TreeFam Gene Tree for GJA8 (if available) |
Paralogs
for GJA8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GJA8 gene
- GJB32 GJA102 GJB62 GJA42 GJC12 GJB52 GJC22 GJA52
- GJD22 GJA32 GJA92 GJD32 GJB42 GJB22 GJB72 GJA12
- GJB12
17 SIMAP similar genes for GJA8 using alignment to 1 protein entry: CXA8_HUMAN:GJA5 GJA1 GJA4 GJB2 GJB5 GJD3
GJB6 GJC1 GJB4 GJA9 GJB3 GJB7
GJB1 GJD2 GJA10 GJA3 GJC2
GJA8 for paralogs About GeneDecksing
|
Genomic Variants
for GJA8 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 GJA8 (147374946 - 147381396 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GJA8
1 CNV: 34420
1 Inversion: 29494
Human Gene Mutation Database (HGMD): GJA8
Locus Specific Mutation Databases (LSDB): GJA8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJA8 |
|
Disorders
/ Diseases
for GJA8 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
|
GJA8 for disorders About GeneDecksing
OMIM gene information: 600897
OMIM disorders: 116200 116150
UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165
Defects in GJA8 are the cause of cataract zonular pulverulent type 1 (CZP1) [MIM:116200]. A form of zonularcataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dotsaffecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may beso dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardlyif at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve thefetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outeredges known as riders or spokes Defects in GJA8 are the cause of cataract-microcornea syndrome (CAMIS) [MIM:116150]. Cataract-microcorneasyndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomalyor dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwisenormal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lensperiphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiringcataract extraction in the first to third decade of life. Microcornea-cataract syndrome can be associated with otherrare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in mostcases autosomal dominant, but cases of autosomal recessive transmission have recently been described
20/25  diseases for GJA8 (see all 25): About MalaCardscataract microcornea syndrome cataract, nuclear progressive cataract cataract, nuclear pulverulent
peripheral neuropathy cataract, zonular cataracts, autosomal dominant neuropathy
juvenile myoclonic epilepsy peters anomaly congenital cataracts senile cataract
neuronitis cystic fibrosis coloboma sjogren's syndrome
microphthalmia myopia cervical adenocarcinoma pheochromocytoma
2 diseases from the University of Copenhagen DISEASES database for GJA8:Senile cataract Microphthalmia 6 Novoseek disease relationships for GJA8 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pulverulent zonular cataract |
94.9 |
3 |
9497259 (1), 11846744 (1), 10480374 (1) |
| cataract, autosomal dominant |
85.4 |
1 |
17601931 (1) |
| congenital cataract |
83.8 |
5 |
17110920 (2), 18334946 (1), 20019893 (1) |
| cataract |
70.6 |
28 |
11875045 (4), 18587493 (2), 16397066 (2), 17601931 (2) (see all 14) |
| nuclear cataract |
65.4 |
2 |
18334966 (1), 20021880 (1) |
| tumors |
3.69 |
4 |
1311984 (2), 8078803 (2) |
Human Genome Epidemiology (HuGE) Navigator: GJA8 (4 documents)
Export disorders for GJA8 gene to outside databases
|
Publications
for GJA8 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 GJA8 gene, integrated from 9 sources (see all 85):
(articles sorted by number of sources associating them with GJA8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. (PubMed id 7796604)1, 2, 3, 9 Church R.L.... Steele E. (1995)
- A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q. (PubMed id 9497259)1, 2, 3, 9 Shiels A.... Bhattacharya S. (1998)
- The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. (PubMed id 8549164)1, 2, 9 Church R.L....Steele E. (1995)
- Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. (PubMed id 16604058)1, 2 Devi R.R. and Vijayalakshmi P. (2006)
- Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels. (PubMed id 11944087)1, 9 Xu X....Ebihara L. (2002)
- A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. (PubMed id 18334946)1, 9 Vanita V....Sperling K. (2008)
- [A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China] (PubMed id 15696487)1, 9 Zheng J.Q....Sun H.M. (2005)
- A mutant connexin50 with enhanced hemichannel functio n leads to cell death. (PubMed id 19684000)1, 9 Minogue P.J....Berthoud V.M. (2009)
- A mutation in GJA8 (p.P88Q) is associated with 'balloon-like' cataract with Y-sutural opacities in a family of Indian origin. (PubMed id 18587493)1, 9 Vanita V....Sperling K. (2008)
- Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. (PubMed id 17601931)1, 9 Ponnam S.P....Kannabiran C. (2007)
|
External Searches for GJA8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GJA8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GJA8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GJA8 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 GJA8 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJA8 |
|
| | |
About This Section
| Patent Information for GJA8 gene:
Search GeneIP for patents involving GJA8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for GJA8 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for GJA8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GJA8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GJA8 | | | OriGene Protein Over-expression Lysate for GJA8 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GJA8 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GJA8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GJA8 | | | 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 | | | OriGene Purified Protein for GJA8 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for GJA8 | | OriGene Custom Protein Services for GJA8 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GJA8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJA8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJA8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJA8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJA8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJA8 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA8 |
|  |  |  | | | | ThermoFisher Antibodies for GJA8 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJA8 |
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