🧬 基因注释：GRIN2B
官方名称：glutamate ionotropic receptor NMDA type subunit 2B
功能摘要：This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017].
- HNRNPC 综合评分: 0.510 · 证据 2 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- ELAVL3 综合评分: 0.329 · 证据 1 条
- Nova2 综合评分: 0.324 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- Rbmx 综合评分: 0.224 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- CPSF7 综合评分: 0.150 · 证据 2 条
该基因暂无关联疾病记录