Human Gene GJD4 (ENST00000321660.2) from GENCODE V44
  Description: Homo sapiens gap junction protein delta 4 (GJD4), mRNA. (from RefSeq NM_153368)
RefSeq Summary (NM_153368): Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008].
Gencode Transcript: ENST00000321660.2
Gencode Gene: ENSG00000177291.4
Transcript (Including UTRs)
   Position: hg38 chr10:35,605,341-35,608,935 Size: 3,595 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr10:35,605,568-35,608,626 Size: 3,059 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:35,605,341-35,608,935)mRNA (may differ from genome)Protein (370 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CXD4_HUMAN
DESCRIPTION: RecName: Full=Gap junction delta-4 protein; AltName: Full=Connexin-40.1; Short=Cx40.1;
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: Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart.
SIMILARITY: Belongs to the connexin family. Delta-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


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.39 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 2.19 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.50227-0.267 Picture PostScript Text
3' UTR -124.30309-0.402 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
PF10582 - n/a

ModBase Predicted Comparative 3D Structure on Q96KN9
FrontTopSide
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007154 cell communication
GO:0014717 regulation of satellite cell activation involved in skeletal muscle regeneration

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


-  Descriptions from all associated GenBank mRNAs
  AK074504 - Homo sapiens cDNA FLJ90023 fis, clone HEMBA1000940, moderately similar to Connexin40.1.
JD036814 - Sequence 17838 from Patent EP1572962.
JD041156 - Sequence 22180 from Patent EP1572962.
JD121895 - Sequence 102919 from Patent EP1572962.
JD556500 - Sequence 537524 from Patent EP1572962.
JD438750 - Sequence 419774 from Patent EP1572962.
JD168642 - Sequence 149666 from Patent EP1572962.
JD336166 - Sequence 317190 from Patent EP1572962.
JD540621 - Sequence 521645 from Patent EP1572962.
JD470253 - Sequence 451277 from Patent EP1572962.
JD358495 - Sequence 339519 from Patent EP1572962.
BC156174 - Synthetic construct Homo sapiens clone IMAGE:100062467, MGC:190523 gap junction protein, delta 4, 40.1kDa (GJD4) mRNA, encodes complete protein.
BC157014 - Synthetic construct Homo sapiens clone IMAGE:100062817, MGC:190619 gap junction protein, delta 4, 40.1kDa (GJD4) mRNA, encodes complete protein.
BC160130 - Synthetic construct Homo sapiens clone IMAGE:100064162, MGC:193245 gap junction protein, delta 4, 40.1kDa (GJD4) mRNA, encodes complete protein.
AJ414564 - Homo sapiens mRNA for connexin40.1 (CX40.1 gene).
JD564351 - Sequence 545375 from Patent EP1572962.
JD319370 - Sequence 300394 from Patent EP1572962.
JD319371 - Sequence 300395 from Patent EP1572962.
JD383905 - Sequence 364929 from Patent EP1572962.
JD539583 - Sequence 520607 from Patent EP1572962.
JD143424 - Sequence 124448 from Patent EP1572962.
JD417469 - Sequence 398493 from Patent EP1572962.
JD352147 - Sequence 333171 from Patent EP1572962.
JD327195 - Sequence 308219 from Patent EP1572962.
JD180199 - Sequence 161223 from Patent EP1572962.
JD531727 - Sequence 512751 from Patent EP1572962.
JD358806 - Sequence 339830 from Patent EP1572962.
JD564645 - Sequence 545669 from Patent EP1572962.
JD558928 - Sequence 539952 from Patent EP1572962.
JD532466 - Sequence 513490 from Patent EP1572962.
JD443739 - Sequence 424763 from Patent EP1572962.
JD071123 - Sequence 52147 from Patent EP1572962.
JD194332 - Sequence 175356 from Patent EP1572962.
JD138962 - Sequence 119986 from Patent EP1572962.
JD180332 - Sequence 161356 from Patent EP1572962.
JD096349 - Sequence 77373 from Patent EP1572962.
JD331894 - Sequence 312918 from Patent EP1572962.
JD182688 - Sequence 163712 from Patent EP1572962.
JD247121 - Sequence 228145 from Patent EP1572962.
JD100712 - Sequence 81736 from Patent EP1572962.
JD141998 - Sequence 123022 from Patent EP1572962.
JD538063 - Sequence 519087 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96KN9 (Reactome details) participates in the following event(s):

R-HSA-190861 Gap junction assembly
R-HSA-190828 Gap junction trafficking
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: CX40.1, CXD4_HUMAN, ENST00000321660.1, NM_153368, Q8N2R7, Q96KN9, uc001iyy.1, uc001iyy.2
UCSC ID: ENST00000321660.2
RefSeq Accession: NM_153368
Protein: Q96KN9 (aka CXD4_HUMAN)
CCDS: CCDS7191.1

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