生物系统数据库
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词条

C2CD4A

ID: 20952 添加时间: 2024/7/4 12:18:18 修改时间: 2025/2/20 4:05:03 词条编辑: 刘小见
同义词C2钙依赖性域4A ; C2 calcium dependent domain containing 4A;NLF1 ; nuclear localized factor 1 ;
曾用名FAM148A ; family with sequence similarity 148, member A ; 
基因信息染色体位置: 15q22.2   基因类型: 蛋白编码基因
层次树 人类基因组 域和家族 C2域
外库HGNC   GeneCards   NCBI   Kegg   UniProt   Signor   Ensembl   AllianceGenome   UCSC   VEGA   OMIM   PubMed1 2 3   RefSeq   ENA   CCDS  
父-分类
简介
Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Diseases associated with C2CD4A include Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay and Maturity-Onset Diabetes Of The Young. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is C2CD4B.
May be involved in inflammatory process.
May regulate cell architecture and adhesion.
Up-regulated by pro-inflammatory cytokines.
Nucleus {ECO:0000269 PubMed:15527968}5