FANCD2 Q9BXW9

范可尼贫血D2组蛋白 (Protein FACD2)

功能描述

维持染色体稳定性所必需 (PubMed:11239453, PubMed:14517836)。促进减数分裂期间同源染色体的精确和有效配对 (PubMed:14517836)。参与DNA双链断裂的修复，包括通过同源重组和单链退火途径 (PubMed:15671039, PubMed:15650050, PubMed:30335751, PubMed:36385258)。FANCI-FANCD2复合物结合并扫描双链DNA (dsDNA) 以寻找DNA损伤；该复合物在双链DNA和单链DNA之间的DNA连接处停滞 (By similarity)。可能在DNA损伤后参与S期和G2期检查点的激活 (PubMed:15377654)。在防止细胞分裂末期错分离染色质的断裂和丢失方面发挥作用，特别是在复制应激后 (PubMed:15454491, PubMed:15661754)。BLM靶向或稳定于由复制应激诱导的非着丝粒异常结构所必需 (PubMed:15661754, PubMed:19465921)。促进BRCA2/FANCD1加载到受损染色质上 (PubMed:11239454, PubMed:12239151, PubMed:12086603, PubMed:15115758, PubMed:15199141, PubMed:15671039, PubMed:18212739)。可能也参与B细胞免疫球蛋白同种型转换。 {ECO:0000250|UniProtKB:Q68Y81, ECO:0000269|PubMed:11239453, ECO:0000269|PubMed:11239454, ECO:0000269|PubMed:12086603, ECO:0000269|PubMed:12239151, ECO:0000269|PubMed:14517836, ECO:0000269|PubMed:15115758, ECO:0000269|PubMed:15314022, ECO:0000269|PubMed:15377654, ECO:0000269|PubMed:15454491, ECO:0000269|PubMed:15650050, ECO:0000269|PubMed:15661754, ECO:0000269|PubMed:15671039, ECO:0000269|PubMed:19465921, ECO:0000269|PubMed:30335751, ECO:0000269|PubMed:36385258}。

组织特异性

Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes.

亚细胞定位

Nucleus