SNTB2

SNTB2
사용 가능한 구조물
PDB	직교 검색: PDBe RCSB
PDB ID 코드 목록
	2VRF
식별자
별칭	SNTB2, D16S2531E, EST25263, SNT2B2, SNT3, SNTL, 싱트로핀 베타 2
외부 ID	OMIM: 600027 MGI: 101771 HomoloGene: 4911 GeneCard: SNTB2
유전자 위치(인간)
쳇.	16번 염색체(인간)
끝	69,309,052 bp
RNA 표현 패턴
	표현된 상단
	지방 조직; ; 경골뼈; ; 복부 지방; ; 망막색소 상피; ; 두정 늑막; ; 자궁경부; ; 내성 늑막; ; 젖꼭지; ; 질질 끌다;
	추가 참조 표현식 데이터
	n/a
직교체
	6645
	20650
	ENSG00000168807; ENSG00000260873
	ENSMUSG00000041308
	Q13425
	Q61235
	NM_130845; NM_006750
	NM_009229; NM_001368316
	NP_006741; NP_006741.1
	NP_033255; NP_001355245
	위키다타
인간 보기/편집	마우스 보기/편집

베타-2-합성크로핀은 인간에게 있어서 SNTB2 유전자에 의해 암호화된 단백질이다.^[4]^[5]^[6]

함수

디스트로핀은 근육섬유의 내부 표면에서 발견되는 막대 모양의 큰 세포골격계 단백질이다. Dystrophin은 Duchenne Musical Dystrophy 환자에서 실종되었고 Becker Musical Dystrophy 환자들에서는 감소된 양으로 존재한다. 이 유전자에 의해 암호화된 단백질은 디스트로핀과 디스트로핀 관련 단백질과 관련된 말초막 단백질이다. 이 유전자는 적어도 두 개의 구조적으로 관련된 유전자를 포함하고 있는 싱트로핀 유전자 계열의 일원이다.^[6]

상호작용

SNTB2는 ABCA1과 상호작용하는 것으로 나타났다.^[7]

참조

^ ^a ^b ^c ENSG00000260873 GRCh38: 앙상블 릴리스 89: ENSG00000168807, ENSG00000260873 - 앙상블, 2017년 5월
^ "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.
^ Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (March 1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J Biol Chem. 271 (5): 2724–30. doi:10.1074/jbc.271.5.2724. PMID 8576247.
^ Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (June 1994). "Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24". Proc Natl Acad Sci U S A. 91 (10): 4446–50. Bibcode:1994PNAS...91.4446A. doi:10.1073/pnas.91.10.4446. PMC 43802. PMID 8183929.
^ ^a ^b "Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)".
^ Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (May 2002). "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex". Biochem. Biophys. Res. Commun. 293 (2): 759–65. doi:10.1016/S0006-291X(02)00303-0. PMID 12054535.

추가 읽기

Blake DJ (2002). "Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?". Neuromuscul. Disord. 12 Suppl 1: S110–7. doi:10.1016/S0960-8966(02)00091-3. PMID 12206805. S2CID 9188156.
Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC (1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". J. Neurosci. 18 (1): 128–37. CiteSeerX 10.1.1.469.2092. doi:10.1523/JNEUROSCI.18-01-00128.1998. PMC 6793384. PMID 9412493.
Lumeng C, Phelps S, Crawford GE, Walden PD, Barald K, Chamberlain JS (1999). "Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases". Nat. Neurosci. 2 (7): 611–7. doi:10.1038/10165. PMID 10404183. S2CID 20910888.
Garcia RA, Vasudevan K, Buonanno A (2000). "The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3596–601. doi:10.1073/pnas.070042497. PMC 16285. PMID 10725395.
Adams ME, Kramarcy N, Krall SP, Rossi SG, Rotundo RL, Sealock R, Froehner SC (2000). "Absence of α-Syntrophin Leads to Structurally Aberrant Neuromuscular Synapses Deficient in Utrophin". J. Cell Biol. 150 (6): 1385–98. doi:10.1083/jcb.150.6.1385. PMC 2150701. PMID 10995443.
Ort T, Maksimova E, Dirkx R, Kachinsky AM, Berghs S, Froehner SC, Solimena M (2001). "The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ domains of beta2-syntrophin and nNOS in pancreatic beta-cells". Eur. J. Cell Biol. 79 (9): 621–30. doi:10.1078/0171-9335-00095. PMID 11043403.
Marchand S, Stetzkowski-Marden F, Cartaud J (2001). "Differential targeting of components of the dystrophin complex to the postsynaptic membrane". Eur. J. Neurosci. 13 (2): 221–9. doi:10.1046/j.1460-9568.2001.01373.x. PMID 11168526.
Hogan A, Shepherd L, Chabot J, Quenneville S, Prescott SM, Topham MK, Gee SH (2001). "Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions". J. Biol. Chem. 276 (28): 26526–33. doi:10.1074/jbc.M104156200. PMID 11352924.
Ort T, Voronov S, Guo J, Zawalich K, Froehner SC, Zawalich W, Solimena M (2001). "Dephosphorylation of β2-syntrophin and Ca2+/µ-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion". EMBO J. 20 (15): 4013–23. doi:10.1093/emboj/20.15.4013. PMC 149140. PMID 11483505.
Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (2002). "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex". Biochem. Biophys. Res. Commun. 293 (2): 759–65. doi:10.1016/S0006-291X(02)00303-0. PMID 12054535.
Kutsenko AS, Gizatullin RZ, Al-Amin AN, Wang F, Kvasha SM, Podowski RM, Matushkin YG, Gyanchandani A, Muravenko OV, Levitsky VG, Kolchanov NA, Protopopov AI, Kashuba VI, Kisselev LL, Wasserman W, Wahlestedt C, Zabarovsky ER (2002). "NotI flanking sequences: a tool for gene discovery and verification of the human genome". Nucleic Acids Res. 30 (14): 3163–70. doi:10.1093/nar/gkf428. PMC 135748. PMID 12136098.
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (2003). "A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis". Am. J. Hum. Genet. 71 (6): 1443–9. doi:10.1086/344580. PMC 378590. PMID 12417987.
Jones KJ, Compton AG, Yang N, Mills MA, Peters MF, Mowat D, Kunkel LM, Froehner SC, North KN (2003). "Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy". Neuromuscul. Disord. 13 (6): 456–67. doi:10.1016/S0960-8966(03)00066-X. PMID 12899872. S2CID 53270107.
Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.
Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (2004). "Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins". J. Biol. Chem. 279 (21): 22331–46. doi:10.1074/jbc.M400285200. PMID 15024025.

16번 염색체의 유전자에 관한 이 기사는 단조롭다. 위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] ENSG00000260873 GRCh38: 앙상블 릴리스 89: ENSG00000168807, ENSG00000260873 - 앙상블, 2017년 5월

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8576247-4] Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (March 1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J Biol Chem. 271 (5): 2724–30. doi:10.1074/jbc.271.5.2724. PMID 8576247.

[pmid8183929-5] Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (June 1994). "Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24". Proc Natl Acad Sci U S A. 91 (10): 4446–50. Bibcode:1994PNAS...91.4446A. doi:10.1073/pnas.91.10.4446. PMC 43802. PMID 8183929.

[entrez-6] "Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)".

[pmid12054535-7] Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (May 2002). "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex". Biochem. Biophys. Res. Commun. 293 (2): 759–65. doi:10.1016/S0006-291X(02)00303-0. PMID 12054535.

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SNTB2

네임스페이스

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목차

함수

상호작용

참조

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