Gene Gene information from NCBI Gene database.
Entrez ID 27183
Gene name Vacuolar protein sorting 4 homolog A
Gene symbol VPS4A
Synonyms (NCBI Gene)
CIMDAGSKD1SKD1ASKD2VPS4VPS4-1
Chromosome 16
Chromosome location 16q22.1
Summary The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share
miRNA miRNA information provided by mirtarbase database.
576
miRTarBase ID miRNA Experiments Reference
MIRT025928 hsa-miR-7-5p Microarray 19073608
MIRT027230 hsa-miR-103a-3p Sequencing 20371350
MIRT032063 hsa-miR-16-5p Sequencing 20371350
MIRT042970 hsa-miR-324-3p CLASH 23622248
MIRT039864 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
109
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000916 Process Actomyosin contractile ring contraction TAS 28242692
GO:0000922 Component Spindle pole IDA 20616062
GO:0000922 Component Spindle pole IEA
GO:0001778 Process Plasma membrane repair NAS 24482116
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609982 13488 ENSG00000132612
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UN37
Protein name Vacuolar protein sorting-associated protein 4A (EC 3.6.4.6) (Protein SKD2) (VPS4-1) (hVPS4)
Protein function Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III componen
PDB 1YXR , 2JQ9 , 2K3W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04212 MIT 6 72 MIT (microtubule interacting and transport) domain Domain
PF00004 AAA 163 293 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 316 357 AAA+ lid domain Domain
PF09336 Vps4_C 374 434 Vps4 C terminal oligomerisation domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10637304, ECO:0000269|PubMed:11563910}.
Sequence
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral life cycle - HIV-1
Virion - Hepatitis viruses
Endocytosis
Necroptosis
  Budding and maturation of HIV virion
Endosomal Sorting Complex Required For Transport (ESCRT)
HCMV Late Events
Sealing of the nuclear envelope (NE) by ESCRT-III
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Pathogenic; Likely pathogenic rs1965484443, rs1965499910, rs1965431981, rs1965484288 RCV001374865
RCV001374864
RCV001374863
RCV001374867
RCV001374866
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic congenital hemolytic and dyserythropoietic anemia Pathogenic; Likely pathogenic rs1965499910, rs1965431981, rs1965484288 RCV001290970
RCV001290972
RCV001290971
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CIMDAG SYNDROME Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyloidosis Amyloidosis BEFREE 28835279
★☆☆☆☆
Found in Text Mining only
Anemia Dyserythropoietic Congenital Congenital dyserythropoietic anemia Pubtator 33186543 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25503676, 34777698 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Nuclear Progressive Congenital cataract Pubtator 34281622 Associate
★☆☆☆☆
Found in Text Mining only
Cognitive Dysfunction Cognition disorder Pubtator 24292993 Stimulate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 25033200
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 24292993 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 27909058
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 25033200
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 25033200 Associate
★☆☆☆☆
Found in Text Mining only