GJD3

GJD3

Identifiers

GJD3, CX31.9, Cx30.2, GJA11, GJC1, gap junction protein delta 3

External IDs

OMIM: 607425 MGI: 2384150 HomoloGene: 17530 GeneCards: GJD3

Gene location (Human)

Chr.	Chromosome 17 (human)^[1]

Band	17q21.2	Start	40,360,652 bp^[1]
Band	17q21.2	End	40,364,737 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11\|11 D	Start	98,873,006 bp^[2]
Band	11\|11 D	End	98,873,842 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

spleen

stromal cell of endometrium

left ventricle

right lung

gallbladder

smooth muscle tissue

upper lobe of left lung

appendix

right lobe of thyroid gland

left lobe of thyroid gland

Top expressed in

spermatocyte

spermatid

testicle

superior frontal gyrus

neural tube

circulatory system

heart

hippocampus proper

rhombencephalon

urinary bladder

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	ion channel activity gap junction channel activity protein binding gap junction channel activity involved in cardiac conduction electrical coupling
Cellular component	integral component of membrane gap junction cell surface cell junction plasma membrane integral component of plasma membrane connexin complex membrane
Biological process	gap junction assembly cell communication ion transmembrane transport response to glucose transmembrane transport cell communication involved in cardiac conduction cell communication by electrical coupling involved in cardiac conduction
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


125111


353155

Ensembl


ENSG00000183153


ENSMUSG00000047197

UniProt


Q8N144


Q91YD1

RefSeq (mRNA)


NM_152219


NM_178596

RefSeq (protein)


NP_689343


NP_848711

Location (UCSC)

Chr 17: 40.36 – 40.36 Mb

Chr 11: 98.87 – 98.87 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Gap junction delta-2 (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 (GJA9), is a protein that in humans is encoded by the GJD2 gene.^[5]

Function

This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183153 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047197 - 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".

White TW, Srinivas M, Ripps H, et al. (2002). "Virtual cloning, functional expression, and gating analysis of human connexin31.9". Am. J. Physiol., Cell Physiol. 283 (3): C960–70. doi:10.1152/ajpcell.00163.2002. PMID 12176752.
Gemel J, Lin X, Collins R, et al. (2008). "Cx30.2 can form heteromeric gap junction channels with other cardiac connexins". Biochem. Biophys. Res. Commun. 369 (2): 388–94. doi:10.1016/j.bbrc.2008.02.040. PMC 2323682. PMID 18291099.
Belluardo N, White TW, Srinivas M, et al. (2001). "Identification and functional expression of HCx31.9, a novel gap junction gene". Cell Commun. Adhes. 8 (4–6): 173–8. doi:10.3109/15419060109080719. PMID 12064584. S2CID 13136344.
Bukauskas FF, Kreuzberg MM, Rackauskas M, et al. (2006). "Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart". Proc. Natl. Acad. Sci. U.S.A. 103 (25): 9726–31. Bibcode:2006PNAS..103.9726B. doi:10.1073/pnas.0603372103. PMC 1480474. PMID 16772377.
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.
Kreuzberg MM, Liebermann M, Segschneider S, et al. (2009). "Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system". J. Mol. Cell. Cardiol. 46 (4): 553–9. doi:10.1016/j.yjmcc.2008.12.007. PMID 19168070.
Unsworth HC, Aasen T, McElwaine S, Kelsell DP (2007). "Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth". Hum. Mol. Genet. 16 (2): 165–72. doi:10.1093/hmg/ddl452. PMID 17142249.
Nielsen PA, Beahm DL, Giepmans BN, et al. (2002). "Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1". J. Biol. Chem. 277 (41): 38272–83. doi:10.1074/jbc.M205348200. PMID 12154091.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 13 October 2022, at 20:35

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Function

References

Further reading