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FLASH GENE

Symbol

GJC2

contributors: mct - updated : 14-09-2015

HGNC name	gap junction protein, gamma 2, 47kDa
HGNC id	17494

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LMPH1C lymphedema, hereditary, IC PMLD1 Pelizaeus-Merzbacher-like disease 1 SPG44 spastic paraplegia 44
Location	1q42.13      Physical location : 228.337.552 - 228.347.525
Synonym name	gap junction protein, alpha 12, 47kDa
	connexin 47
	connexin46.6
Synonym symbol(s)	Cx47, CX46.6, PMLDAR, GJA12, MGC105119, SPG44, HLD2

DNA

TYPE	functioning gene
STRUCTURE	9.97 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D1S1837E - D1S174E - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020435 2 - 2259 NP_065168 47 439 - 2003 12805295

EXPRESSION

Rna function	brain, spinal cord and neurons
Type	restricted

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 Digestive intestine large intestine       Lymphoid/Immune lymphatic vessel       highly Reproductive female system ovary         female system uterus cervix     Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Nervous oligodendrocyte Homo sapiens Nervous optic nerve

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye lens, anterior segment, optic nerve, retina, RPE, choroid

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four membrane spanning alpha helices
	N terminal intracellular domain
	two extracellular loops
	a C terminal intracellular domain

HOMOLOGY

interspecies

homolog to murine Gja12

Homologene

FAMILY	connexin family
	gamma-type subfamily

CATEGORY

structural protein , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane,junction,gap

basic FUNCTION	having connexon channel activity, and involved in cell communication
	playing a key role in central myelination and is and is involved in peripheral myelination in humans
	functional role of GJC2 and GJB6 for interastrocytic, interoligodendrocytic, and panglial coupling, and both connexins are required for maintenance of myelin

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

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PMLD1 , LMPH1C , SPG44

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	manipulation of gap-junction-coordinated lymphatic flow and function as a possible therapeutic option for primary lymphedema

ANIMAL & CELL MODELS