Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3313
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock protein family A (Hsp70) member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSPA9
Synonyms (NCBI Gene) Gene synonyms aliases
CRP40, CSA, EVPLS, GRP-75, GRP75, HEL-S-124m, HSPA9B, MOT, MOT2, MTHSP75, PBP74, SAAN, SIDBA4
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cogn
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs772570880 CT>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031608 hsa-miR-16-5p Proteomics 18668040
MIRT044460 hsa-miR-320a CLASH 23622248
MIRT042957 hsa-miR-324-3p CLASH 23622248
MIRT042742 hsa-miR-339-5p CLASH 23622248
MIRT039907 hsa-miR-615-3p CLASH 23622248
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:0001401 Component SAM complex HDA 26477565
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 10411904, 15520177, 15657067, 17184779, 20029029, 20153329, 20195357, 20668094, 22340593, 22726440, 23541579, 23940031, 24189400, 24606901, 24625977, 25416956, 26634371, 26702583, 27607350, 28380382, 28514442, 30021884, 31978385, 31980649, 32807793, 33961781
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600548 5244 ENSG00000113013
Protein
UniProt ID P38646
Protein name Stress-70 protein, mitochondrial (EC 3.6.4.10) (75 kDa glucose-regulated protein) (GRP-75) (Heat shock 70 kDa protein 9) (Heat shock protein family A member 9) (Mortalin) (MOT) (Peptide-binding protein 74) (PBP74)
Protein function Mitochondrial chaperone that plays a key role in mitochondrial protein import, folding, and assembly. Plays an essential role in the protein quality control system, the correct folding of proteins, the re-folding of misfolded proteins, and the t
PDB 3N8E , 4KBO , 6NHK , 6P2U , 6PMT , 9BLS , 9BLT , 9BLU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00012 HSP70 55 653 Hsp70 protein Family
Sequence
Sequence length 679
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  RNA degradation
Tuberculosis
  Regulation of HSF1-mediated heat shock response
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Even-Plus Syndrome even-plus syndrome rs751478142, rs765368797 N/A
Sideroblastic Anemia Autosomal dominant sideroblastic anemia rs763817505 N/A
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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 30662332
Adenocarcinoma of Lung Associate 33640883, 34721732
Amyotrophic Lateral Sclerosis Associate 36121477
Anemia Sideroblastic Associate 26491070, 38360212
Ataxia Telangiectasia Associate 34637921
Breast Neoplasms Associate 31379979
Carcinogenesis Associate 15670812, 25645922, 26955804
Carcinoma Hepatocellular Associate 25225353
Cholesteatoma Associate 23852020
Cholesteatoma Middle Ear Associate 23852020