Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
259217
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock protein family A (Hsp70) member 12A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSPA12A
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610701 19022 ENSG00000165868
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Renal Tubular Associate 39349238
Atrial Fibrillation Associate 17903304
Breast Neoplasms Associate 22806168, 29954368
Carcinoma Hepatocellular Associate 25798051, 35050463
Carcinoma Renal Cell Inhibit 32754264
Cardiovascular Diseases Associate 17903304
Colorectal Neoplasms Associate 26302849, 36394206
Diabetic Nephropathies Inhibit 37916327
Heart Failure Associate 17903304
Hypoxia Inhibit 39349238