AVIL - advillin Gene

Also Known as p92; DOC6; ADVIL; NPHS21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10677

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_006576.4 NP_006567.3 advillin

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables Arp2/3 complex binding IDA
IDA: Inferred from direct assay
29058690 GOA
enables actin filament binding IDA
IDA: Inferred from direct assay
29058690 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
29058690 GOA
Biological Process GO Annotation Evidence References Source
involved in actin filament organization IMP
IMP: Inferred from mutant phenotype
29058690 GOA
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
20393563 GOA
involved in positive regulation of lamellipodium assembly IMP
IMP: Inferred from mutant phenotype
29058690 GOA
involved in regulation of diacylglycerol biosynthetic process IMP
IMP: Inferred from mutant phenotype
29058690 GOA
Cellular Component GO Annotation Evidence References Source
located in actin filament IDA
IDA: Inferred from direct assay
29058690 GOA
located in focal adhesion IDA
IDA: Inferred from direct assay
29058690 GOA
located in lamellipodium IDA
IDA: Inferred from direct assay
29058690 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AVIL Protein Structure

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.
Protein Preferred Names Protein Names

advillin

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-164677 PLH1215 Inhibitor 99.98% Unkown
HY-RS01278 AVIL Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-164676 PLH2058 / Unkown
HY-RS21297 Avil Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27816 Avil Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others AVIL NCBI