Protein-coding gene in the species Homo sapiens
GJD4 |
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Identifiers |
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Aliases | GJD4, CX40.1, gap junction protein delta 4 |
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External IDs | OMIM: 611922; MGI: 2444990; HomoloGene: 17692; GeneCards: GJD4; OMA:GJD4 - orthologs |
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Gene location (Human) |
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![Chromosome 10 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/2/2f/Ideogram_human_chromosome_10.svg/300px-Ideogram_human_chromosome_10.svg.png) | Chr. | Chromosome 10 (human)[1] |
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| Band | 10p11.21 | Start | 35,605,341 bp[1] |
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End | 35,608,935 bp[1] |
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Gene location (Mouse) |
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![Chromosome 18 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/5/5c/Ideogram_house_mouse_chromosome_18.svg/260px-Ideogram_house_mouse_chromosome_18.svg.png) | Chr. | Chromosome 18 (mouse)[2] |
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| Band | 18|18 A1 | Start | 9,278,607 bp[2] |
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End | 9,282,809 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - gonad
- apex of heart
- prefrontal cortex
- ventricle
- left ventricle
- human musculoskeletal system
- dorsolateral prefrontal cortex
- Brodmann area 9
- muscular system
- muscle
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| Top expressed in | - tongue muscle
- muscle of trunk
- thoracic diaphragm
- neural tube
- autopod region
- paraxial mesoderm
- foot
- hand
- foregut
- muscle of upper limb
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| More reference expression data |
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BioGPS | |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 10: 35.61 – 35.61 Mb | Chr 18: 9.28 – 9.28 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Gap junction delta-4 protein (GJD4), also known as connexin-40.1 (Cx40.1), is a protein that in humans is encoded by the GJD4 gene.[5]
Function
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.[5][6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000177291 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036855 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: gap junction protein".
- ^ Söhl G, Nielsen PA, Eiberger J, Willecke K (2003). "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues". Cell Commun. Adhes. 10 (1): 27–36. doi:10.1080/15419060302063. PMID 12881038. S2CID 225894.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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