1. Gene
  2. SHISA7 - shisa family member 7 Gene

SHISA7 - shisa family member 7 Gene

中文名称:shisa 家族成员 7

种属: Homo sapiens

同用名: CKAMP59

基因 ID: 729956 | 基因类型: protein coding

关于 SHISA7

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,428,740-55,443,300 (from NCBI)

This gene has 2 transcripts (splice variants), 219 orthologues and 3 paralogues. Biased expression in brain (RPKM 7.7), testis (RPKM 0.8) and 1 other tissue.

功能概要

预测具有 GABA 受体结合活性和离子型谷氨酸受体结合活性。预计参与多个过程,包括γ-氨基丁酸受体聚集;信号受体活性的调节;和突触可塑性的调节。预计位于不对称、谷氨酸能、兴奋性突触中。预计是 AMPA 谷氨酸受体复合物的一部分。预计在谷氨酸能突触中活跃;突触后密度;和突触膜。预计是突触后特化膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable GABA Receptor binding activity and ionotropic glutamate receptor binding activity. Predicted to be involved in several processes, including gamma-aminobutyric acid receptor clustering; regulation of signaling receptor activity; and regulation of synaptic plasticity. Predicted to be located in asymmetric, glutamatergic, excitatory synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in glutamatergic synapse; postsynaptic density; and synaptic membrane. Predicted to be integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022]

SHISA7 基因产物(1)

mRNA Protein Name
NM_001145176.2 NP_001138648.1 protein shisa-7 precursor

SHISA7 蛋白结构

Shisa

Shisa: Wnt and FGF inhibitory regulator (80 - 138)

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  • 538 a.a.
蛋白主名 其他名称

protein shisa-7

GABA(A) receptor auxiliary subunit Shisa7

关联疾病

疾病名称 别名
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SHISA7 RGD RGD:1583944
Bos taurus SHISA7 VGNC VGNC:52247
Mus musculus SHISA7 MGD MGI:3605641
Felis catus SHISA7 VGNC VGNC:65124
Canis familiaris SHISA7 VGNC VGNC:53978