2. Gene
  3. CARMIL2 - capping protein regulator and myosin 1 linker 2 Gene

CARMIL2 - capping protein regulator and myosin 1 linker 2 Gene

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

中文名称：封盖蛋白调节因子和肌球蛋白 1 接头 2

种属: Homo sapiens

同用名: IMD58; RLTPR; LRRC16C; CARMIL2b

基因 ID: 146206 | 基因类型: protein coding

关于 CARMIL2

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,645,144-67,657,569 (from NCBI)

This gene has 16 transcripts (splice variants), 115 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.2) and 10 other tissues.

功能概要

该基因编码 CARMIL (加帽蛋白、Arp2/3、肌球蛋白-I 接头) 蛋白质家族的成员。编码的蛋白质与异二聚体封端蛋白相互作用并负向调节并促进细胞迁移。已在人类银屑病患者中观察到该基因表达减少。该基因的突变会导致以平滑肌肿瘤和 T 细胞功能受损为特征的人类免疫缺陷综合症。[RefSeq 提供，2017 年 5 月]

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

CARMIL2 基因产物(2)

mRNA Protein Name
NM_001013838.3 NP_001013860.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform 1
NM_001317026.3 NP_001303955.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform 2
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 phospholipid binding IDA
IDA: 通过直接分析推断
26578515 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
26466680 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament network formation IDA
IDA: 通过直接分析推断
26466680 GOA
involved in establishment or maintenance of cell polarity IDA
IDA: 通过直接分析推断
19846667 GOA
involved in establishment or maintenance of monopolar cell polarity IDA
IDA: 通过直接分析推断
26466680 GOA
involved in negative regulation of barbed-end actin filament capping IDA
IDA: 通过直接分析推断
26466680 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
19846667 GOA
involved in positive regulation of extracellular matrix disassembly IDA
IDA: 通过直接分析推断
26466680 GOA
involved in positive regulation of lamellipodium assembly IDA
IDA: 通过直接分析推断
26466680 GOA
involved in positive regulation of lamellipodium organization IDA
IDA: 通过直接分析推断
26578515 GOA
involved in positive regulation of ruffle assembly IDA
IDA: 通过直接分析推断
26466680 GOA
involved in wound healing, spreading of cells IDA
IDA: 通过直接分析推断
26466680 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin cytoskeleton IDA
IDA: 通过直接分析推断
26578515 GOA
located in cell leading edge IDA
IDA: 通过直接分析推断
26466680 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19846667 GOA
located in intermediate filament cytoskeleton IDA
IDA: 通过直接分析推断
19846667 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
26578515 GOA
located in macropinosome IDA
IDA: 通过直接分析推断
26578515 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26578515 GOA
located in ruffle IDA
IDA: 通过直接分析推断
26466680 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

CARMIL2 蛋白结构

LRR_6

LRR_6: Leucine Rich repeat (608 - 631)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1435 a.a.
蛋白主名 其他名称

capping protein, Arp2/3 and myosin-I linker protein 2

F-actin-uncapping protein RLTPR

关联疾病

疾病名称 别名
Immunodeficiency 58

IMD58

Severe Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Rltpr Deficiency
Combined T And B Cell Immunodeficiency
Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia
Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis
Leiomyomatosis
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia

Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease

IMD71

Plteid

Immunodeficiency 71
Immunodeficiency 16

Combined Immunodeficiency Due To Ox40 Deficiency

IMD16

Ox40 Deficiency

Combined Immunodeficiency With Childhood-Onset Kaposi Sarcoma

Combined Immunodeficiency With Impaired Immunity To Hhv-8

Combined Immunodeficiency With Impaired Immunity To Human Herpes Virus 8

Immunodeficiency, Type 16
Cone-Rod Dystrophy 15

Retinitis Pigmentosa 65

CORD15

Dystrophy, Cone-Rod, Type 15
Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis
Photoparoxysmal Response 1

Photosensitivity Disease

Photodermatitis

Photosensitivity Disorders

PPR1

Ppr

Photosensitivity

Photoconvulsive Reaction

Epilepsy, Photogenic

Photosensitivity Of Skin

Dermatitis, Phototoxic
Immunodeficiency 11

Immunodeficiency 11a

Severe Combined Immunodeficiency Due To Card11 Deficiency

IMD11A

Imd11

Card11 Immunodeficiency

Scid Due To Card11 Deficiency

Card11 Deficiency

Immunodeficiency 11 A
Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01930 CARMIL2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CARMIL2 VGNC VGNC:70647
Bos taurus CARMIL2 VGNC VGNC:26769
Canis familiaris CARMIL2 VGNC VGNC:38723
Rattus norvegicus CARMIL2 RGD RGD:1562390
Mus musculus CARMIL2 MGD MGI:2685431
Felis catus CARMIL2 VGNC VGNC:60371
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