ZEB2

아연집게 E-box-결합 호메오박스2 (Zinc finger E-box-binding homeobox 2)는 단백질로 사람에서 ZEB2유전자가 암호화 하고 있다.

ZEB2
사용 가능한 구조 PDB 동원체 검색: PDBe RCSB PDB ID 코드 목록 2DA7
식별자
다른 이름	ZEB2, HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B, zinc finger E-box binding homeobox 2
외부 ID	OMIM: 605802 MGI: 1344407 HomoloGene: 8868 GeneCards: ZEB2
유전자 위치 (인간) 염색체 2번 염색체 자리 2q22.3 시작 144,364,364 bp 끝 144,521,057 bp
유전자 위치 (쥐) 염색체 2번 염색체 (쥐) 자리 2|2 B 시작 44,873,644 bp 끝 45,007,407 bp
RNA 발현 패턴 Bgee 인간 쥐(동원체) 최상위 발현 장딴지신경 단핵구 C1 segment 아킬레스건 뇌량 internal globus pallidus 미주신경 아래신경절 epithelium of colon 과립구 편도체 최상위 발현 Rostral migratory stream stroma of bone marrow 탯줄 태아 dentate gyrus 홍채 dentate gyrus of hippocampal formation granule cell subdivision of hippocampus Region I of hippocampus proper 넙다리뼈몸통 추가 참조 발현 데이터 BioGPS 추가 참조 발현 데이터
유전자 온톨로지 분자 함수 DNA 결합 phosphatase regulator activity 금속 이온 결합 단백질 결합 nucleic acid binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific R-SMAD binding sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific 세포 성분 세포핵 핵소체 세포액 생물학적 과정 DNA를 주형으로 한 전사의 조절 nervous system development DNA를 주형으로 한 전사 positive regulation of melanin biosynthetic process negative regulation of transcription by RNA polymerase II neural crest cell migration somitogenesis neural tube closure transcription by RNA polymerase II central nervous system development corpus callosum morphogenesis hippocampus development cell proliferation in forebrain corticospinal tract morphogenesis positive regulation of Wnt signaling pathway positive regulation of JUN kinase activity positive regulation of melanocyte differentiation positive regulation of transcription by RNA polymerase II developmental pigmentation embryonic morphogenesis collateral sprouting positive regulation of axonogenesis mammillary axonal complex development melanocyte migration positive regulation of lens fiber cell differentiation regulation of melanosome organization 출처: Amigo / QuickGO
동원체 종 인간 쥐 앙트레 9839 24136 앙상블 ENSG00000169554 ENSMUSG00000026872 유니프롯 O60315 Q9R0G7 RefSeq (mRNA) NM_001171653 NM_014795 NM_015753 NM_001289521 NM_001355288 NM_001355289 NM_001355290 NM_001355291 RefSeq(단백질) NP_001165124 NP_055610 NP_001276450 NP_056568 NP_001342217 NP_001342218 NP_001342219 NP_001342220 위치(UCSC) Chr 2: 144.36 – 144.52 Mb Chr 2: 44.87 – 45.01 Mb PubMed 검색
위키데이터
인간 보기/편집 쥐 보기/편집

기능

SMADIP1유전자는 delta-EF1(TCF8)/Zfh1과의 하나로, 팔이 두 개인 아연집게/호메오도메인 단백질이다. SMADIP1은 수용체매개, 수용체활성 SMAD단백질과 함께 상호작용한다.

임상적 중요성

ZEB2유전자의 변형은 Mowat-Wilson syndrome에 연관되어있다.

더 읽어보기

• Mowat DR; Wilson MJ; Goossens M (2003). “Mowat-Wilson syndrome”. 《J. Med. Genet.》 40 (5): 305–10. doi:10.1136/jmg.40.5.305. PMC 1735450. PMID 12746390. 
• Nagase T; Ishikawa K; Miyajima N; 외. (1998). “Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro”. 《DNA Res.》 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581. 
• Ueki N; Oda T; Kondo M; 외. (1999). “Selection system for genes encoding nuclear-targeted proteins”. 《Nat. Biotechnol.》 16 (13): 1338–42. doi:10.1038/4315. PMID 9853615. 
• Verschueren K; Remacle JE; Collart C; 외. (1999). “SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes”. 《J. Biol. Chem.》 274 (29): 20489–98. doi:10.1074/jbc.274.29.20489. PMID 10400677. 
• Wakamatsu N; Yamada Y; Yamada K; 외. (2001). “Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease”. 《Nat. Genet.》 27 (4): 369–70. doi:10.1038/86860. PMID 11279515. 
• Comijn J; Berx G; Vermassen P; 외. (2001). “The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion”. 《Mol. Cell》 7 (6): 1267–78. doi:10.1016/S1097-2765(01)00260-X. PMID 11430829. 
• Cacheux V; Dastot-Le Moal F; Kääriäinen H; 외. (2001). “Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease”. 《Hum. Mol. Genet.》 10 (14): 1503–10. doi:10.1093/hmg/10.14.1503. PMID 11448942. 
• Tylzanowski P; Verschueren K; Huylebroeck D; Luyten FP (2001). “Smad-interacting protein 1 is a repressor of liver/bone/kidney alkaline phosphatase transcription in bone morphogenetic protein-induced osteogenic differentiation of C2C12 cells”. 《J. Biol. Chem.》 276 (43): 40001–7. doi:10.1074/jbc.M104112200. PMID 11477103. 
• Yamada K; Yamada Y; Nomura N; 외. (2002). “Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features”. 《Am. J. Hum. Genet.》 69 (6): 1178–85. doi:10.1086/324343. PMC 1235530. PMID 11592033. 
• Amiel J; Espinosa-Parrilla Y; Steffann J; 외. (2002). “Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures”. 《Am. J. Hum. Genet.》 69 (6): 1370–7. doi:10.1086/324342. PMC 1235547. PMID 11595972. 
• Zweier C; Albrecht B; Mitulla B; 외. (2002). “"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene”. 《Am. J. Med. Genet.》 108 (3): 177–81. doi:10.1002/ajmg.10226. PMID 11891681. 
• Nagaya M; Kato J; Niimi N; 외. (2002). “Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality”. 《J. Pediatr. Surg.》 37 (8): 1117–22. doi:10.1053/jpsu.2002.34455. PMID 12149685. 
• Guaita S; Puig I; Franci C; 외. (2002). “Snail induction of epithelial to mesenchymal transition in tumor cells is accompanied by MUC1 repression and ZEB1 expression”. 《J. Biol. Chem.》 277 (42): 39209–16. doi:10.1074/jbc.M206400200. PMID 12161443. 
• Espinosa-Parrilla Y; Amiel J; Augé J; 외. (2003). “Expression of the SMADIP1 gene during early human development”. 《Mech. Dev.》 114 (1–2): 187–91. doi:10.1016/S0925-4773(02)00062-X. PMID 12175509. 
• Yoneda M; Fujita T; Yamada Y; 외. (2002). “Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B”. 《Neurology》 59 (10): 1637–40. PMID 12451214. 
• Strausberg RL; Feingold EA; Grouse LH; 외. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. 《Proc. Natl. Acad. Sci. U.S.A.》 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 
• Postigo AA (2003). “Opposing functions of ZEB proteins in the regulation of the TGFβべーた/BMP signaling pathway”. 《EMBO J.》 22 (10): 2443–52. doi:10.1093/emboj/cdg225. PMC 155983. PMID 12743038. 
• Postigo AA; Depp JL; Taylor JJ; Kroll KL (2003). “Regulation of Smad signaling through a differential recruitment of coactivators and corepressors by ZEB proteins”. 《EMBO J.》 22 (10): 2453–62. doi:10.1093/emboj/cdg226. PMC 155984. PMID 12743039. 
• Zweier C; Temple IK; Beemer F; 외. (2003). “Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome”. 《J. Med. Genet.》 40 (8): 601–5. doi:10.1136/jmg.40.8.601. PMC 1735564. PMID 12920073. 

외부 링크

• GeneReviews/NIH/NCBI/UW entry on Mowat-Wilson syndrome
• 의학주제표목 (MeSH)의 ZEB2+protein,+human