AVIL - advillin Gene

Homo sapiens

Also known as p92; DOC6; ADVIL; NPHS21

Gene ID: 10677 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

VHP

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01278	AVIL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-164676	PLH2058		/	Unkown
HY-164677	PLH1215		/	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

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