GJA5

GJA5
식별자
다른 이름	GJA5, ATFB11, CX40, gap junction protein alpha 5
외부 ID	OMIM: 121013 MGI: 95716 HomoloGene: 3856 GeneCards: GJA5
유전자 위치 (인간) 염색체 1번 염색체[1] 자리 1q21.2 시작 147,756,199 bp[1] 끝 147,773,362 bp[1]
유전자 위치 (쥐) 염색체 3번 염색체 (쥐)[2] 자리 3 F2.1|3 42.04 cM 시작 96,812,009 bp[2] 끝 96,984,732 bp[2]
RNA 발현 패턴 Bgee 인간 쥐(동원체) 최상위 발현 태반 오른관상동맥 왼관상동맥 right auricle lower lobe of lung 오금동맥 tibial arteries upper lobe of lung Descending thoracic aorta upper lobe of left lung 최상위 발현 난황낭 vascular endothelium vasculature of trunk footplate dorsal aorta 심방 primordial ventricle tongue muscle myocardium of atrium 배대동맥 추가 참조 발현 데이터 BioGPS 추가 참조 발현 데이터
유전자 온톨로지 분자 함수 gap junction channel activity involved in cardiac conduction electrical coupling gap junction channel activity gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling gap junction hemi-channel activity gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling disordered domain specific binding connexin binding 세포 성분 integral component of membrane cell projection 세포막 사이원반 세포막 integral component of plasma membrane 세포연접 간극연접 connexin complex 생물학적 과정 bundle of His cell to Purkinje myocyte communication by electrical coupling skeletal system development regulation of ventricular cardiac muscle cell membrane depolarization cardiac conduction system development ventricular septum development negative regulation of blood pressure ventricular septum morphogenesis SA node cell action potential AV node cell to bundle of His cell communication regulation of atrial cardiac muscle cell membrane depolarization ventricular cardiac muscle cell action potential cell communication by electrical coupling involved in cardiac conduction outflow tract morphogenesis atrial ventricular junction remodeling cell communication by electrical coupling mitral valve development pulmonary valve formation embryonic heart tube development regulation of Purkinje myocyte action potential atrial septum morphogenesis cell communication potassium ion transport regulation of bundle of His cell action potential heart development regulation of renin secretion into blood stream blood vessel development cardiac conduction embryonic limb morphogenesis protein complex oligomerization AV node cell to bundle of His cell communication by electrical coupling positive regulation of vasoconstriction 혈관신생 artery morphogenesis transmembrane transport endothelium development renal system process involved in regulation of systemic arterial blood pressure regulation of systemic arterial blood pressure gap junction assembly positive regulation of cell communication by chemical coupling cell communication involved in cardiac conduction regulation of cardiac muscle contraction septum primum development regulation of heart rate by cardiac conduction regulation of AV node cell action potential negative regulation of glomerular filtration atrial septum development vasomotion foramen ovale closure cell communication by chemical coupling regulation of atrial cardiac muscle cell action potential regulation of ventricular cardiac muscle cell membrane repolarization regulation of membrane depolarization during cardiac muscle cell action potential SA node cell to atrial cardiac muscle cell communication by electrical coupling atrial cardiac muscle cell to AV node cell communication by electrical coupling Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling blood vessel diameter maintenance 출처: Amigo / QuickGO
동원체 종 인간 쥐 앙트레 2702 14613 앙상블 ENSG00000265107 ENSMUSG00000057123 유니프롯 P36382 Q01231 RefSeq (mRNA) NM_005266 NM_181703 NM_001271628 NM_008121 RefSeq(단백질) NP_005257 NP_859054 NP_001258557 NP_032147 위치(UCSC) Chr 1: 147.76 – 147.77 Mb Chr 3: 96.81 – 96.98 Mb PubMed 검색 [3] [4]
위키데이터
인간 보기/편집 쥐 보기/편집

간극연접 알파 5 (Gap Junction Alpha-5, GJA5) 또는 커넥신-40 (Cx40)은 인간에서 GJA5 유전자에 의해 암호화되는 단백질이다.

기능

이 유전자는 커넥신 유전자 패밀리의 구성원이다. 암호화된 단백질은 세포 간 저분자량 물질의 확산 경로를 제공하는 세포 간 채널의 배열로 구성된 간극연접의 구성 요소이다. 이 유전자의 돌연변이는 심방세동과 관련이 있을 수 있다.^[5]

간극연접 알파 5는 1q21.1 위치에서 선천성 심장 질환으로 관찰되는 표현형을 담당하는 유전자로 확인되었다. GJA5의 중복의 경우 팔로사징증이 일어날 확률이 높다.^[6]

같이 보기

• 커넥신
• 간극연접

각주

1. GRCh38: Ensembl release 89: ENSG00000265107 - 앙상블, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000057123 - 앙상블, May 2017
3. “Human PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》. 
4. “Mouse PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》. 
5. “Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa”. 
6. Soemedi, R.; 외. (2011). “DPhenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls”. 《Hum. Mol. Genet.》 21 (7): 1513–1520. doi:10.1093/hmg/ddr589. PMC 3298277. PMID 22199024.