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FLASH GENE

Symbol

GJA4

contributors: mct/npt - updated : 13-05-2020

HGNC name	gap junction protein, alpha 4, 37kDa
HGNC id	4278

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	anonymous DNA segment
STRUCTURE	2.79 kb     2 Exon(s)

MAPPING

cloned

linked

status

confirmed

Map	pter - D1S2676 - [D1S195 - D1S1546 - GJA4 - D1S1628 - D1S496 - D1S201 - AK2 -- D1S472 - D1S255 ] - D1S432 - MYCL1 - D1S2743 - MYCL1 - D1S1591 - D1S432 - D1S2101 - D1S1598 - D1S3435 - D1S2706 - KCNQ4 /GJB3 - D1S193 - D1S2861 - D1S193 - cen
Authors	Kubisch (99), UCSC (2009)
Text	[GJB3 , GJB5 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002060 2 - 1621 NP_002051 37.3 333 - 1993 7680674

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessels capillary       Nervous nerve cranial nerve     highly Reproductive female system placenta     highly   female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Epithelial barrier/lining endothelium

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Blood/Hematopoietic platelet Homo sapiens Cardiovascular endothelial cell Lymphoid/Immune macrophage

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	cytoplasmic N-terminal alpha-helical structure may be dispensable for protein localization, but implicated in protein trafficking, oligomerization and channel gating, and required for hemichannel gating and intercellular communication (Kyle 2008, 2009))
	four putative membrane spanning alpha helices, separating the N terminal intracellular domain
	two extracellular loops
	a C terminal intracellular domain

HOMOLOGY

Homologene

FAMILY	connexin family
	alpha-type (group II) subfamily

CATEGORY

structural protein , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane,junction,gap

basic FUNCTION	gap junction protein of endothelial cells with multiple conductance levels and pronounced voltage dependency
	may control initiation of the development of atherosclerotic plaques by regulating monocyte adhesion
	important role for GJA4 hemichannels and gap junctions in platelet thrombus function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cell to cell transport

PATHWAY

metabolism

signaling

a component

monomer constituent of the connexon (six subunits), docking with its counterpart in the neighboring cell to form the gap junction channel

INTERACTION

DNA

RNA

small molecule

protein	GJA1 in some endothelial cells
	GJA4, GJA5, contribute to the propagation and amplification of the Ca(2+) signaling triggered by Acetylcholine (ACh) in endothelial cells expressing CHRM3
	arterial shear activates a NOTCH1-GJA4-CDKN1B axis that promotes endothelial cell cycle arrest to enable arterial gene expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to atherosclerosis to primary ovarian insufficiency (POI) to Polycystic ovarian syndrome (PCOS)

Variant & Polymorphism other	polymorphism protecting against atherosclerosis
	c.946G>A heterozygous substitution leading to a p.Gly316Ser variant that was present in primary ovarian insufficiency (POI)
	GJA4 C1019T variation may contribute to the risk of PCOS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	deletion of the Cx37 gene (Gja4) in transgenic mice reduced platelet aggregation, fibrinogen binding, granule secretion, and clot retraction
	Cx37-deficient female mice are infertile