Gene Gene information from NCBI Gene database.
Entrez ID 10948
Gene name StAR related lipid transfer domain containing 3
Gene symbol STARD3
Synonyms (NCBI Gene)
CAB1MLN64es64
Chromosome 17
Chromosome location 17q12
Summary This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late
miRNA miRNA information provided by mirtarbase database.
240
miRTarBase ID miRNA Experiments Reference
MIRT489075 hsa-miR-3714 PAR-CLIP 23592263
MIRT489074 hsa-miR-4476 PAR-CLIP 23592263
MIRT489073 hsa-miR-6876-5p PAR-CLIP 23592263
MIRT489071 hsa-miR-6808-5p PAR-CLIP 23592263
MIRT489072 hsa-miR-6893-5p PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 12802284
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15718238, 24105263, 25416956, 28377464, 28514442, 29858488, 32296183, 33124732, 33961781, 35512704
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm TAS 9139840
GO:0005739 Component Mitochondrion IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607048 17579 ENSG00000131748
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14849
Protein name StAR-related lipid transfer protein 3 (Metastatic lymph node gene 64 protein) (MLN 64) (Protein CAB1) (START domain-containing protein 3) (StARD3)
Protein function Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464, PubMed:33124732). The sterol transport mechanism is triggered by phosphor
PDB 1EM2 , 5I9J , 6TQR , 6TQU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10457 MENTAL 47 213 Cholesterol-capturing domain Domain
PF01852 START 239 444 START domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in retina. {ECO:0000269|PubMed:21322544}.
Sequence
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholesterol metabolism   Pregnenolone biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS CTD
★★☆☆☆
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
Asthma Asthma Pubtator 32078577 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis Pubtator 20491656 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15010812, 16322295, 20100636, 20198306, 25681734, 8752152, 9139840
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20198306, 21288332, 36734436 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 37966613 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 18482205
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 12802284, 15010812, 16322295, 20100636, 20198306, 25681734, 8752152
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer CTD_human_DG 17013881, 17592021
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 17592021, 30996782
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 15010812, 24276243, 24291029
★☆☆☆☆
Found in Text Mining only