Gene Gene information from NCBI Gene database.
Entrez ID 401548
Gene name Sorting nexin family member 30
Gene symbol SNX30
Synonyms (NCBI Gene)
ATG24A
Chromosome 9
Chromosome location 9q32
miRNA miRNA information provided by mirtarbase database.
732
miRTarBase ID miRNA Experiments Reference
MIRT030989 hsa-miR-21-5p Microarray 18591254
MIRT437954 hsa-miR-133a-3p In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot 24715690
MIRT437954 hsa-miR-133a-3p In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot 24715690
MIRT437954 hsa-miR-133a-3p In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot 24715690
MIRT437954 hsa-miR-133a-3p In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot 24715690
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000407 Component Phagophore assembly site IBA
GO:0000423 Process Mitophagy IBA
GO:0005515 Function Protein binding IPI 23085988, 28514442, 32513819, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620955 23685 ENSG00000148158
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VWJ9
Protein name Sorting nexin-30
Protein function Involved in the regulation of endocytosis and in several stages of intracellular trafficking (PubMed:32513819). Together with SNX4, involved in autophagosome assembly (PubMed:32513819).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 119 206 PX domain Domain
Sequence
MAGGPPKALPSTGPHSLRDMPHPLAGSSSEEAVGGDSTPSPDLLMARSFGDKDLILPNGG
TPAGTSSPASSSSLLNRLQLDDDIDGETRDLFVIVDDPKKHVCTMETYITYRITTKSTRV
EFDLPEYSVRRRYQDFDWLRSKLEESQPTHLIPPLPEKFVVKGVVDRFSEEFVETRRKAL
DKFLKRITDHPVLSFNEHFNIFLTAK
DLNAYKKQGIALLTRMGESVKHVTGGYKLRTRPL
EFAAIGDYLDTFALKLGTIDRIAQRIIKEEIEYLVELREYGPVYSTWSALEGELAEPLEG
VSACIGNCSTALEELTDDMTEDFLPVLREYILYSDSMKSVLKKRDQVQAEYEAKLEAVAL
RKEDRPKVPADVEKCQDRMECFNADLKADMERWQNNKRQDFRQLLMGMADKNIQYYEKCL
MAWESIIPLLQEKQEAK
Sequence length 437
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
BRAIN INFARCTION 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
Coronary Disease Coronary artery disease Pubtator 34515027 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only