1. Gene
  2. EPB41L2 - erythrocyte membrane protein band 4.1 like 2 Gene

EPB41L2 - erythrocyte membrane protein band 4.1 like 2 Gene

中文名称:红细胞膜蛋白带 4.1 like 2

种属: Homo sapiens

同用名: 4.1G; 4.1-G

基因 ID: 2037 | 基因类型: protein coding

关于 EPB41L2

Cytogenetic location: 6q23.1-q23.2 Genomic coordinates (GRCh38): 6:130,839,347-131,063,245 (from NCBI)

This gene has 34 transcripts (splice variants), 230 orthologues and 10 paralogues. Ubiquitous expression in fat (RPKM 33.9), ovary (RPKM 23.5) and 23 other tissues.

功能概要

预测启用 PH 域绑定活动;细胞骨架蛋白结合活性;和结构分子活性。参与蛋白质定位到细胞皮层的正调节。位于细胞连接处;核质;和质膜。与 COP9 信号体共定位。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in cell junction; nucleoplasm; and plasma membrane. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022]

EPB41L2 基因产物(22)

mRNA Protein Name
NM_001135554.2 NP_001129026.1 band 4.1-like protein 2 isoform b
NM_001135555.4 NP_001129027.1 band 4.1-like protein 2 isoform b
NM_001199388.3 NP_001186317.1 band 4.1-like protein 2 isoform c
NM_001252660.2 NP_001239589.1 band 4.1-like protein 2 isoform d
NM_001350299.2 NP_001337228.1 band 4.1-like protein 2 isoform e
NM_001350301.2 NP_001337230.1 band 4.1-like protein 2 isoform f
NM_001350302.2 NP_001337231.1 band 4.1-like protein 2 isoform a
NM_001350303.2 NP_001337232.1 band 4.1-like protein 2 isoform g
NM_001350304.2 NP_001337233.1 band 4.1-like protein 2 isoform h
NM_001350305.2 NP_001337234.1 band 4.1-like protein 2 isoform h
NM_001350306.2 NP_001337235.1 band 4.1-like protein 2 isoform h
NM_001350307.2 NP_001337236.1 band 4.1-like protein 2 isoform i
NM_001350308.2 NP_001337237.1 band 4.1-like protein 2 isoform c
NM_001350309.1 NP_001337238.1 band 4.1-like protein 2 isoform c
NM_001350310.2 NP_001337239.1 band 4.1-like protein 2 isoform c
NM_001350311.2 NP_001337240.1 band 4.1-like protein 2 isoform d
NM_001350312.2 NP_001337241.1 band 4.1-like protein 2 isoform d
NM_001350313.2 NP_001337242.1 band 4.1-like protein 2 isoform d
NM_001350314.2 NP_001337243.1 band 4.1-like protein 2 isoform j
NM_001350315.2 NP_001337244.1 band 4.1-like protein 2 isoform j
NM_001350320.2 NP_001337249.1 band 4.1-like protein 2 isoform k
NM_001431.4 NP_001422.1 band 4.1-like protein 2 isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
20936779 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of protein localization to cell cortex IMP
IMP: 通过突变表型推断
23870127 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of COP9 signalosome IDA
IDA: 通过直接分析推断
18850735 GOA
located in cell cortex IDA
IDA: 通过直接分析推断
23870127 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

EPB41L2 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (222 - 298)

FERM_M

FERM_M: FERM central domain (300 - 409)

FERM_C

FERM_C: FERM C-terminal PH-like domain (413 - 501)

FA

FA: FERM adjacent (FA) (507 - 550)

SAB

SAB: SAB domain (630 - 677)

4_1_CTD

4_1_CTD: 4.1 protein C-terminal domain (CTD) (887 - 999)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1005 a.a.
蛋白主名 其他名称

band 4.1-like protein 2

erythrocyte membrane protein band 4.1 like-protein 2

EPB41L2 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
EPB41L2 O43491 FCGR1A Homo sapiens P12314 22003208
种属内
EPB41L2 O43491 FCGR1A Homo sapiens P12314 22003208
种属内
EPB41L2 O43491 FCGR1A Homo sapiens P12314
IF
22003208
种属内
EPB41L2 O43491 YWHAE Homo sapiens P62258 36931259
种属内
EPB41L2 O43491 YWHAG Homo sapiens P61981 20936779
种属内
EPB41L2 O43491 YWHAG Homo sapiens P61981 33961781
种属内
EPB41L2 O43491 YWHAG Homo sapiens P61981 28514442
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
Petrous Apex Meningioma

Meningioma Of The Petrous Ridge

Cellular Congenital Mesoblastic Nephroma
Tuberculum Sellae Meningioma

Meningioma Of The Tuberculum Sellae

Sella Turcica Neoplasm

Tumor Of Sella Turcica

Cerebellopontine Angle Meningioma

Meningioma Of The Cerebellar Pontine Angle

Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

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 EPB41L2 RGD RGD:1563977
Mus musculus EPB41L2 MGD MGI:103009
Macaca mulatta EPB41L2 VGNC VGNC:72232
Bos taurus EPB41L2 VGNC VGNC:28521
Felis catus EPB41L2 VGNC VGNC:61893
Canis familiaris EPB41L2 VGNC VGNC:40394