1. Gene
  2. RASSF8 - Ras association domain family member 8 Gene

RASSF8 - Ras association domain family member 8 Gene

中文名称:Ras 关联域家族成员 8

种属: Homo sapiens

同用名: HOJ1; C12orf2

基因 ID: 11228 | 基因类型: protein coding

关于 RASSF8

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:25,958,232-26,079,889 (from NCBI)

This gene has 18 transcripts (splice variants), 283 orthologues and 3 paralogues. Broad expression in testis (RPKM 13.9), endometrium (RPKM 13.0) and 23 other tissues.

功能概要

该基因编码肿瘤抑制蛋白的 Ras 关联域家族 (RASSF) 的成员。该基因对于维持上皮细胞的粘附连接功能至关重要,并在上皮细胞迁移中发挥作用。它是肺肿瘤抑制基因候选者。导致该基因与 FBLN1 基因融合的染色体易位 t (12;22) (p11.2;q13.3) 在复杂类型的并多指畸形中被发现。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供,2011 年 5 月]

This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

RASSF8 基因产物(13)

mRNA Protein Name
NM_001164746.2 NP_001158218.1 ras association domain-containing protein 8 isoform a
NM_001164747.2 NP_001158219.1 ras association domain-containing protein 8 isoform a
NM_001164748.2 NP_001158220.1 ras association domain-containing protein 8 isoform a
NM_001394094.1 NP_001381023.1 ras association domain-containing protein 8 isoform a
NM_001394095.1 NP_001381024.1 ras association domain-containing protein 8 isoform a
NM_001394096.1 NP_001381025.1 ras association domain-containing protein 8 isoform a
NM_001394097.1 NP_001381026.1 ras association domain-containing protein 8 isoform a
NM_001394098.1 NP_001381027.1 ras association domain-containing protein 8 isoform a
NM_001394099.1 NP_001381028.1 ras association domain-containing protein 8 isoform a
NM_001394100.1 NP_001381029.1 ras association domain-containing protein 8 isoform a
NM_001394101.1 NP_001381030.1 ras association domain-containing protein 8 isoform a
NM_001394102.1 NP_001381031.1 ras association domain-containing protein 8 isoform a
NM_007211.5 NP_009142.2 ras association domain-containing protein 8 isoform b
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RASSF8 蛋白结构

RA

RA: Ras association (RalGDS/AF-6) domain (3 - 80)

  • 0
  • 100
  • 200
  • 300
  • 419 a.a.
蛋白主名 其他名称

ras association domain-containing protein 8

Ras association (RalGDS/AF-6) domain family (N-terminal) member 8

RASSF8 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RASSF8 Q8NHQ8 FRMD6 Homo sapiens Q96NE9 16189514
种属内
RASSF8 Q8NHQ8 FRMD6 Homo sapiens Q96NE9 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

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
Felis catus RASSF8 VGNC VGNC:64511
Mus musculus RASSF8 MGD MGI:1918573
Rattus norvegicus RASSF8 RGD RGD:1308820
Bos taurus RASSF8 VGNC VGNC:33764
Macaca mulatta RASSF8 VGNC VGNC:76473
Canis familiaris RASSF8 VGNC VGNC:45385