SH3와 다중 앤키린 반복영역 단백질 2 는 인간에서 SHANK2 유전자 에 의해 암호화된 단백질 이다.[5] [6] 두 가지 대안적 스플라이스 변형 즉, 구별되는 ISO 형식을 인코딩하는 것이 보고된다. 추가적인 스플라이스 변형이 존재하지만 그 전체 길이 의 성질은 결정되지 않았다.[6]
함수 이 유전자는 샨크 계열 의 시냅스 단백질 중 하나인 단백질을 암호화하고, 시냅스 후 밀도(PSD)에서 분자 비계 역할을 할 수 있다. sh크 단백질은 단백질-단백질 상호작용을 위한 여러 도메인을 포함하고 있는데 여기에는 앤키린 반복측정 , SH3 도메인 , PSD-95 /Dlg/ZO-1 도메인, 무균 알파 모티브 도메인, 프롤라인 부위가 포함된다. 이 특정 패밀리 멤버는 PDZ 도메인, 코트라틴 SH3 도메인 결합 펩타이드에 대한 컨센서스 시퀀스 및 멸균 알파 모티브를 포함한다. 샨크 유전자에서 입증된 대체 스플리싱 은 성인의 PSD에서 샨크의 분자 구조와 샨크 상호작용 단백질의 스펙트럼을 조절하고 뇌를 발달시키는 메커니즘으로 제시되어 왔다.[6]
SHANK2는 기존 NMDA 수용체 풀(NMDA-R)에 메타봉성 글루암산염 수용체 (mGluRs)를 부착하고, PSD-95를 통해 NMDA-R, HOMER1 을 통해 mGluRs와 연계함으로써 시냅트생식 에 역할을 할 수 있을 것으로 생각된다.[7] 대안 가설은 Homer/Shank/GKAP/PSD-95 어셈블리가 IP3R/RYR 및 세포내 Ca2+ 저장소와 NMDAR의 물리적 연결을 중재한다는 것이다.
상호작용 SHANK2는 다음과 상호 작용하는 것으로 나타났다.
신경정신과 질환과의 연관성 SHANK2의 돌연변이는 자폐 스펙트럼 장애(ASD)와 정신분열증과 관련이 있다.[13] 특히, 이형성 기능상실 돌연변이는 ASD에서 거의 완전한 침투관을 가지고 있다.[14] ASD와 SHANK2 돌연변이를 가진 사람들로부터 생성되는 뉴런은 건강한 제어에서 생성되는 뉴런보다 더 큰 덴드리트 나무와 더 많은 시냅스 연결을 발달시킨다.[15] 게다가, SHANK2의 일반적인 돌연변이는 조울증 과 연관되어 있다.[16]
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