Gene Gene information from NCBI Gene database.
Entrez ID 259217
Gene name Heat shock protein family A (Hsp70) member 12A
Gene symbol HSPA12A
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q25.3
miRNA miRNA information provided by mirtarbase database.
410
miRTarBase ID miRNA Experiments Reference
MIRT029642 hsa-miR-26b-5p Microarray 19088304
MIRT042776 hsa-miR-339-5p CLASH 23622248
MIRT1055922 hsa-miR-1238 CLIP-seq
MIRT1055923 hsa-miR-125a-5p CLIP-seq
MIRT1055924 hsa-miR-125b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001889 Process Liver development IEA
GO:0005515 Function Protein binding IPI 30679749, 32296183, 33961781
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610701 19022 ENSG00000165868
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43301
Protein name Heat shock 70 kDa protein 12A (Heat shock protein family A member 12A)
Protein function Adapter protein for SORL1, but not SORT1. Delays SORL1 internalization and affects SORL1 subcellular localization.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in brain, kidney and muscle. {ECO:0000269|PubMed:12552099}.
Sequence
MADKEAGGSDGPRETAPTSAYSSPARSLGDTGITPLSPSHIVNDTDSNVSEQQSFLVVVA
VDFGTTSSGYAYSFTKEPECIHVMRRWEGGDPGVSNQKTPTTILLTPERKFHSFGYAARD
FYHDLDPNEAKQWLYLEKFKMKLHTTGDLTMDTDLTAANGKKVKALEIFAYALQYFKEQA
LKELSDQAGSEFENSDVRWVITVPAIWKQPAKQFMRQAAYQAGLASPENSEQLIIALEPE
AASIYCRKLRLHQMIELSSKAAVNGYSGSDTVGAGFTQAKEHIRRNRQSRTFLVENVIGE
IWSELEEGDKYVVVDSGGGTVDLTVHQIRLPEGHLKELYKATGGPYGSLGVDYEFEKLLY
KIFGEDFIEQFKIKRPAAWVDLMIAFESRKRAAAPDRTNPLNITLPFSFIDYYKKFRGHS
VEHALRKSNVDFVKWSSQGMLRMSPDAMNALFKPTIDSIIEHLRDLFQKPEVSTVKFLFL
VGGFAEAPLLQQAVQAAFGDQCRIIIPQDVGLTILKGAVLFGLDPAVIKVRRSPLTYGVG
VLNRYVEGKHPPEKLLVKDGTRWCTDVFDKFISADQSVALGELVKRSYTPAKPSQLVIVI
NIYSSEHDNVSFITDPGVKKCGTLRLDLTGTSGTAVPARREIQTLMQFGDTEIKATAIDI
ATSKSVKVGIDFLNY
Sequence length 675
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of HSF1-mediated heat shock response
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE 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
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 23263487
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 17903304 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22806168, 29954368 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25798051, 35050463 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 32754264 Inhibit
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 17903304 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29530582
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 25798051
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 23263487
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASDB_DG 23263487
★☆☆☆☆
Found in Text Mining only