🧬 基因注释：NBPF3

官方名称：NBPF member 3

功能摘要：This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013].

• PTBP1 综合评分: 0.460 · 证据 2 条
• HNRNPC 综合评分: 0.448 · 证据 2 条
• HNRNPK 综合评分: 0.444 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• PCBP2 综合评分: 0.298 · 证据 1 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CSTF2 综合评分: 0.212 · 证据 2 条
• Rbmx 综合评分: 0.198 · 证据 1 条
• CPSF6 综合评分: 0.150 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• GRSF1 综合评分: 0.150 · 证据 2 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• NXF1 综合评分: 0.100 · 证据 1 条
• RBM20 综合评分: 0.100 · 证据 2 条

该基因暂无关联疾病记录