Free for academic non-profit institutions. Other users need a Commercial license
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 (Advillin) is a Protein Coding gene. Diseases associated with AVIL include Nephrotic Syndrome, Type 21 and Nephrotic Syndrome. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is VIL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | ISS | -- |
GO:0005515 | protein binding | IPI | 29058690 |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | IBA | 21873635 |
GO:0051015 | actin filament binding | IEA,IDA | 29058690 |
GO:0071933 | Arp2/3 complex binding | IDA | 29058690 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005884 | actin filament | IDA | 29058690 |
GO:0005925 | focal adhesion | IDA | 29058690 |
GO:0015629 | actin cytoskeleton | TAS,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007010 | cytoskeleton organization | IEA | -- |
GO:0007015 | actin filament organization | IMP | 29058690 |
GO:0007399 | nervous system development | TAS | 9664034 |
GO:0008154 | actin polymerization or depolymerization | IBA | 21873635 |
GO:0010592 | positive regulation of lamellipodium assembly | IMP | 29058690 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - |
ExUns: | 20a | · | 20b | · | 20c |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AVIL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AVIL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AVIL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Avil 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Avil 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | AVIL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | AVIL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | avil 30 |
|
||
Str.5242 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | avil 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Gel 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | K06A4.3 32 |
|
|
|
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | VLN2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0356700 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
684648 | Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 | 57,807,649(-) | G/T | MISSENSE_VARIANT | |
684649 | Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 | 57,807,485(-) | C/T | MISSENSE_VARIANT | |
684650 | Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 | 57,811,062(-) | C/T | MISSENSE_VARIANT | |
684651 | Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 | 57,802,346(-) | C/CA | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
713418 | Benign: not provided | 57,816,005(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 21 |
|
|
nephrotic syndrome |
|
|
combined oxidative phosphorylation deficiency 3 |
|
|
uvulitis |
|
|
migraine with or without aura 1 |
|
|