AVIL (advillin)

Gene

• Entrez ID: 10677
• Gene name: Advillin
• Gene symbol: AVIL
• Synonyms (NCBI Gene): ADVIL, DOC6, NPHS21, p92
• Chromosome: 12
• Chromosome location: 12q14.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138047529	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, missense variant
rs763782471	G>T	Pathogenic	Coding sequence variant, missense variant
rs1334894971	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021358	hsa-miR-9-5p	Microarray	17612493
MIRT812252	hsa-miR-331-5p	CLIP-seq
MIRT812253	hsa-miR-3609	CLIP-seq
MIRT812254	hsa-miR-4678	CLIP-seq
MIRT812255	hsa-miR-548ah	CLIP-seq
MIRT812256	hsa-miR-548t	CLIP-seq
MIRT812257	hsa-miR-663b	CLIP-seq
MIRT2444497	hsa-miR-122	CLIP-seq
MIRT2444498	hsa-miR-1290	CLIP-seq
MIRT2444499	hsa-miR-3152-5p	CLIP-seq
MIRT2444500	hsa-miR-3167	CLIP-seq
MIRT2444501	hsa-miR-323-3p	CLIP-seq
MIRT2444502	hsa-miR-4438	CLIP-seq
MIRT2444503	hsa-miR-448	CLIP-seq
MIRT2444504	hsa-miR-4774-3p	CLIP-seq
MIRT2444505	hsa-miR-4802-5p	CLIP-seq
MIRT2444506	hsa-miR-5095	CLIP-seq
MIRT2444507	hsa-miR-642b	CLIP-seq
MIRT2444508	hsa-miR-876-5p	CLIP-seq
MIRT2444498	hsa-miR-1290	CLIP-seq
MIRT2444500	hsa-miR-3167	CLIP-seq
MIRT2444501	hsa-miR-323-3p	CLIP-seq
MIRT2444507	hsa-miR-642b	CLIP-seq
MIRT2444508	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005515	Function	Protein binding	IPI	29058690
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	29058690
GO:0005925	Component	Focal adhesion	IDA	29058690
GO:0005925	Component	Focal adhesion	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007015	Process	Actin filament organization	IEA
GO:0007015	Process	Actin filament organization	IMP	29058690
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9664034
GO:0008154	Process	Actin polymerization or depolymerization	IBA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	29058690
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	TAS	9664034
GO:0030027	Component	Lamellipodium	IDA	29058690
GO:0030027	Component	Lamellipodium	IEA
GO:0030424	Component	Axon	IEA
GO:0042995	Component	Cell projection	IEA
GO:0042995	Component	Cell projection	ISS
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0044089	Process	Positive regulation of cellular component biogenesis	IEA
GO:0051014	Process	Actin filament severing	IBA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	29058690
GO:0051015	Function	Actin filament binding	IEA
GO:0051016	Process	Barbed-end actin filament capping	IBA
GO:0051693	Process	Actin filament capping	IEA
GO:0060271	Process	Cilium assembly	IMP	20393563
GO:0070161	Component	Anchoring junction	IEA
GO:0071933	Function	Arp2/3 complex binding	IDA	29058690
GO:1900480	Process	Regulation of diacylglycerol biosynthetic process	IMP	29058690
GO:1902745	Process	Positive regulation of lamellipodium organization	IEA

Other IDs

• MIM: 613397
• HGNC: 14188
• e!Ensembl: ENSG00000135407

Protein

• UniProt ID: O75366
• Protein name: Advillin (p92)
• Protein function: Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-lik
• PDB: 1UND
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00626	Gelsolin	23 → 105	Gelsolin repeat	Domain
  PF00626	Gelsolin	143 → 217	Gelsolin repeat	Domain
  PF00626	Gelsolin	263 → 340	Gelsolin repeat	Domain
  PF00626	Gelsolin	404 → 486	Gelsolin repeat	Domain
  PF00626	Gelsolin	523 → 592	Gelsolin repeat	Domain
  PF00626	Gelsolin	627 → 705	Gelsolin repeat	Domain
  PF02209	VHP	784 → 819	Villin headpiece domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Most highly expressed in the small intestine and colonic lining. Weaker expression also detected in the thymus, prostate, testes and uterus (PubMed:12034507). Expressed in podocytes (at protein level) (PubMed:29058690). {ECO:0000269|Pu
• Sequence:

  MPLTSAFRAVDNDPGIIVWRIEKMELALVPVSAHGNFYEGDCYVILSTRRVASLLSQDIH
  FWIGKDSSQDEQSCAAIYTTQLDDYLGGSPVQHREVQYHESDTFRGYFKQGIIYKQGGVA
  SGMKHVETNTYDVKRLLHVKGKRNIRATEVEMSWDSFNRGDVFLLDLGKVIIQWNGPESN
  SGERLKAMLLAKDIRDRERGGRAKIGVIEGDKEAASPELMKVLQDTLGRRSIIKPTVPDE
  IIDQKQKSTIMLYHISDSAGQLAVTEVATRPLVQDLLNHDDCYILDQSGTKIYVWKGKGA
  TKAEKQAAMSKALGFIKMKSYPSSTNVETVNDGAESAMFKQLFQKWSVKDQTMGLGKTFS
  IGKIAKVFQDKFDVTLLHTKPEVAAQERMVDDGNGKVEVWRIENLELVPVEYQWYGFFYG
  GDCYLVLYTYEVNGKPHHILYIWQGRHASQDELAASAYQAVEVDRQFDGAAVQVRVRMGT
  EPRHFMAIFKGKLVIFEGGTSRKGNAEPDPPVRLFQIHGNDKSNTKAVEVPAFASSLNSN
  DVFLLRTQAEHYLWYGKGSSGDERAMAKELASLLCDGSENTVAEGQEPAEFWDLLGGKTP
  YANDKRLQQEILDVQSRLFECSNKTGQFVVTEITDFTQDDLNPTDVMLLDTWDQVFLWIG
  AEANATEKESALATAQQYLHTHPSGRDPDTPILIIKQGFEPPIFTGWFLAWDPNIWSAGK
  TYEQLKEELGDAAAIMRITADMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAK
  KENYLSEQDFVSVFGITRGQFAALPGWKQLQMKKEKGLF

• Sequence length: 819

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Gastric cancer	Likely pathogenic	rs138728046	RCV005931992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic	rs138728046	RCV004798968	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome, type 21	Likely pathogenic; Pathogenic	rs138728046, rs1334894971, rs763782471, rs138047529	RCV004698871 RCV000851546 RCV000851543 RCV000851544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steroid-resistant nephrotic syndrome	Pathogenic; Likely pathogenic	rs1334894971, rs763782471, rs138047529	RCV000845156 RCV000845155 RCV000845157	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs138728046	RCV005931993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVIL-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinogenesis	Associate	37762498	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Stimulate	37762498	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Associate	29058690	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Stimulate	37762498	★☆☆☆☆ Found in Text Mining only