Human Gene GJC3 (ENST00000312891.3_7) from GENCODE V47lift37
  Description: gap junction protein gamma 3 (from RefSeq NM_181538.3)
Gencode Transcript: ENST00000312891.3_7
Gencode Gene: ENSG00000176402.6_9
Transcript (Including UTRs)
   Position: hg19 chr7:99,520,889-99,527,243 Size: 6,355 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr7:99,521,168-99,527,243 Size: 6,076 Coding Exon Count: 2 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:99,520,889-99,527,243)mRNA (may differ from genome)Protein (279 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CXG3_HUMAN
DESCRIPTION: RecName: Full=Gap junction gamma-3 protein; AltName: Full=Connexin-30.2; Short=Cx30.2; AltName: Full=Connexin-31.3; Short=Cx31.3; AltName: Full=Gap junction epsilon-1 protein;
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).
SUBUNIT: A connexon is composed of a hexamer of connexins (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, gap junction (By similarity).
TISSUE SPECIFICITY: CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney.
SIMILARITY: Belongs to the connexin family. Gamma-type subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GJC3
Diseases sorted by gene-association score: mednik syndrome (12), charcot-marie-tooth neuropathy, x-linked dominant, 1 (7), nonsyndromic deafness (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.82 RPKM in Nerve - Tibial
Total median expression: 58.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -57.80279-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000500 - Connexin
IPR019570 - Connexin_CCC
IPR017990 - Connexin_CS
IPR013092 - Connexin_N

Pfam Domains:
PF00029 - Connexin

ModBase Predicted Comparative 3D Structure on Q8NFK1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0042803 protein homodimerization activity
GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling

Biological Process:
GO:0007154 cell communication
GO:0007605 sensory perception of sound
GO:0042552 myelination
GO:0086053 AV node cell to bundle of His cell communication by electrical coupling

Cellular Component:
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0005922 connexin complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  BC038207 - Homo sapiens gap junction protein, gamma 3, 30.2kDa, mRNA (cDNA clone IMAGE:5392714), with apparent retained intron.
BC038208 - Homo sapiens gap junction protein, gamma 3, 30.2kDa, mRNA (cDNA clone IMAGE:5395513), with apparent retained intron.
BC043381 - Homo sapiens gap junction protein, gamma 3, 30.2kDa, mRNA (cDNA clone IMAGE:5228728), partial cds.
JD020649 - Sequence 1673 from Patent EP1572962.
JD035635 - Sequence 16659 from Patent EP1572962.
AF503615 - Homo sapiens connexin 31.3 mRNA, complete cds.
AY297109 - Homo sapiens connexin 31.3 mRNA, complete cds.
BC148670 - Synthetic construct Homo sapiens clone IMAGE:100015563, MGC:183095 gap junction protein, gamma 3, 30.2kDa (GJC3) mRNA, encodes complete protein.
BC156594 - Synthetic construct Homo sapiens clone IMAGE:100062058, MGC:190152 gap junction protein, gamma 3, 30.2kDa (GJC3) mRNA, encodes complete protein.
AB528858 - Synthetic construct DNA, clone: pF1KE0579, Homo sapiens GJC3 gene for gap junction protein, gamma 3, 30.2kDa, without stop codon, in Flexi system.
JD023808 - Sequence 4832 from Patent EP1572962.
JD030803 - Sequence 11827 from Patent EP1572962.
JD032542 - Sequence 13566 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D296, CXG3_HUMAN, ENST00000312891.1, ENST00000312891.2, GJE1, NM_181538, Q86XI9, Q8NFK1, uc317phi.1, uc317phi.2
UCSC ID: ENST00000312891.3_7
RefSeq Accession: NM_181538.3
Protein: Q8NFK1 (aka CXG3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.