2. Gene
  3. SEZ6 - seizure related 6 homolog Gene

SEZ6 - seizure related 6 homolog Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：癫痫发作相关的 6 同系物

种属: Homo sapiens

同用名: BSRPC

基因 ID: 124925 | 基因类型: protein coding

关于 SEZ6

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,954,905-29,006,440 (from NCBI)

This gene has 9 transcripts (splice variants), 247 orthologues and 39 paralogues. Restricted expression toward brain (RPKM 16.6).

功能概要

该基因编码的蛋白质被认为包含五个类似于 sushi 结构域的富含半胱氨酸的基序，以及两个类似于 CUB (补体 C1r/C1s、Uegf、Bmp1) 结构域的氨基末端一半的结构域。该基因的突变与热性惊厥有关。[RefSeq 提供，2016 年 7 月]

The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]

SEZ6 基因产物(3)

mRNA Protein Name
NM_001098635.2 NP_001092105.1 seizure protein 6 homolog isoform 2 precursor
NM_001290202.2 NP_001277131.1 seizure protein 6 homolog isoform 3
NM_178860.5 NP_849191.3 seizure protein 6 homolog isoform 1 precursor

SEZ6 蛋白结构

Sushi

Sushi: Sushi repeat (SCR repeat) (357 - 412)

CUB

CUB: CUB domain (416 - 524)

Sushi

Sushi: Sushi repeat (SCR repeat) (532 - 589)

CUB

CUB: CUB domain (593 - 695)

Sushi

Sushi: Sushi repeat (SCR repeat) (710 - 765)

Sushi

Sushi: Sushi repeat (SCR repeat) (771 - 830)

Sushi

Sushi: Sushi repeat (SCR repeat) (851 - 895)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 994 a.a.
蛋白主名 其他名称

seizure protein 6 homolog

重组 SEZ6 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78036 SEZ6/BSRP-C Protein, Human (HEK293, His) Q53EL9-1 (L20-H925) ≥95%

关联疾病

疾病名称 别名
Childhood-Onset Schizophrenia

Childhood Schizophrenia

Schizophrenia, Childhood
Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12753 SEZ6 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS12754 SEZ6L Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS12755 SEZ6L2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SEZ6 VGNC VGNC:65049
Canis familiaris SEZ6 VGNC VGNC:46063
Rattus norvegicus SEZ6 RGD RGD:619780
Bos taurus SEZ6 VGNC VGNC:34502
Macaca mulatta SEZ6 VGNC VGNC:77240
Mus musculus SEZ6 MGD MGI:104745
Macaca fascicularis SEZ6 NCBI
Others SEZ6 NCBI
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