2. Gene
  3. AVIL - advillin Gene

AVIL - advillin Gene

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

中文名称：阿维林

种属: Homo sapiens

同用名: p92; DOC6; ADVIL; NPHS21

基因 ID: 10677 | 基因类型: protein coding

关于 AVIL

Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,797,380-57,818,734 (from NCBI)

This gene has 10 transcripts (splice variants), 194 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 3.9), appendix (RPKM 2.2) and 25 other tissues.

功能概要

该基因编码的蛋白质是肌动蛋白调节蛋白凝溶胶蛋白/绒毛蛋白家族的成员。这种蛋白质与绒毛蛋白具有结构相似性。它结合肌动蛋白，并可能在形成神经节的神经元细胞的发育中发挥作用。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]

AVIL 基因产物(1)

mRNA Protein Name
NM_006576.4 NP_006567.3 advillin
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 Arp2/3 complex binding IDA
IDA: 通过直接分析推断
29058690 GOA
enables actin filament binding IDA
IDA: 通过直接分析推断
29058690 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
29058690 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IMP
IMP: 通过突变表型推断
29058690 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
20393563 GOA
involved in positive regulation of lamellipodium assembly IMP
IMP: 通过突变表型推断
29058690 GOA
involved in regulation of diacylglycerol biosynthetic process IMP
IMP: 通过突变表型推断
29058690 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin filament IDA
IDA: 通过直接分析推断
29058690 GOA
located in focal adhesion IDA
IDA: 通过直接分析推断
29058690 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
29058690 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

AVIL 蛋白结构

Gelsolin

Gelsolin: Gelsolin repeat (26 - 105)

Gelsolin

Gelsolin: Gelsolin repeat (144 - 215)

Gelsolin

Gelsolin: Gelsolin repeat (265 - 339)

Gelsolin

Gelsolin: Gelsolin repeat (406 - 486)

Gelsolin

Gelsolin: Gelsolin repeat (524 - 592)

Gelsolin

Gelsolin: Gelsolin repeat (629 - 704)

VHP

VHP: Villin headpiece domain (784 - 819)

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

advillin

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 21

NPHS21

Nephrotic Syndrome Type 21

Nephrotic Syndrome 21
Osebold-Remondini Syndrome

Brachydactyly Type A6

Brachymesophalangy With Mesomelic Short Limbs And Carpal And Tarsal Osseous Abnormalities

Bda6

Brachydactyly, Type A6
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Paroxysmal Extreme Pain Disorder

PEPD

Familial Rectal Pain

Pexpd

Submandibular, Ocular, And Rectal Pain With Flushing

Pain, Submandibular, Ocular, And Rectal, With Flushing

Rectal Pain, Familial

Submandibular, Ocular And Rectal Pain With Flushing

Familial Rectal Syndrome

Frp

Pain Disorder, Paroxysmal, Extreme
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
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 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01278 AVIL Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-164676 PLH2058 / 否
HY-164677 PLH1215 Inhibitor / 否
HY-RS21297 Avil Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27816 Avil Rat 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 AVIL VGNC VGNC:70070
Rattus norvegicus AVIL RGD RGD:620301
Felis catus AVIL VGNC VGNC:60048
Canis familiaris AVIL VGNC VGNC:38315
Mus musculus AVIL MGD MGI:1333798
Bos taurus AVIL VGNC VGNC:26354
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