Gene Gene information from NCBI Gene database.
Entrez ID 9218
Gene name VAMP associated protein A
Gene symbol VAPA
Synonyms (NCBI Gene)
VAMP-AVAP-33VAP-AVAP33hVAP-33
Chromosome 18
Chromosome location 18p11.22
Summary The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein co
miRNA miRNA information provided by mirtarbase database.
488
miRTarBase ID miRNA Experiments Reference
MIRT016124 hsa-miR-421 Sequencing 20371350
MIRT027325 hsa-miR-101-3p Sequencing 20371350
MIRT665500 hsa-miR-6750-3p HITS-CLIP 23824327
MIRT665499 hsa-miR-8485 HITS-CLIP 23824327
MIRT665498 hsa-miR-3680-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 24209621
GO:0005515 Function Protein binding IPI 10544080, 16227268, 16895911, 16996479, 18160438, 19289470, 19515777, 19615732, 20029029, 21900206, 21957124, 21976701, 22045669, 23736259, 23840749, 23935497, 24105263, 24209621, 25616068, 25681634, 25910212, 26496610, 26618866, 28298427, 28377464, 29858488, 29997244, 30659099, 307
GO:0005634 Component Nucleus IEA
GO:0005783 Component Endoplasmic reticulum HDA 16791210
GO:0005783 Component Endoplasmic reticulum IDA 18713837, 19289470
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605703 12648 ENSG00000101558
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0L0
Protein name Vesicle-associated membrane protein-associated protein A (VAMP-A) (VAMP-associated protein A) (VAP-A) (33 kDa VAMP-associated protein) (VAP-33)
Protein function Endoplasmic reticulum (ER)-anchored protein that mediates the formation of contact sites between the ER and endosomes via interaction with FFAT motif-containing proteins such as STARD3 or WDR44 (PubMed:32344433, PubMed:33124732). STARD3-VAPA int
PDB 2RR3 , 6TQR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00635 Motile_Sperm 14 120 MSP (Major sperm protein) domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MASASGAMAKHEQILVLDPPTDLKFKGPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYC
VRPNSGIIDPGSTVTVSVMLQPFDYDPNEKSKHKFMVQTIFAPPNTSDMEAVWKEAKPDE

LMDSKLRCVFEMPNENDKLNDMEPSKAVPLNASKQDGPMPKPHSVSLNDTETRKLMEECK
RLQGEMMKLSEENRHLRDEGLRLRKVAHSDKPGSTSTASFRDNVTSPLPSLLVVIAAIFI
GFFLGKFIL
Sequence length 249
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholesterol metabolism   Sphingolipid de novo biosynthesis
Neutrophil degranulation
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA 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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 17804640, 21144830, 30741620
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 18665321
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 18665321
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder Borderline personality disorder BEFREE 18665321
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia BEFREE 18665321
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30797148 Associate
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia BEFREE 20956978
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 28124475
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial infarction Pubtator 29049183 Associate
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 28124475
★☆☆☆☆
Found in Text Mining only