Gene Gene information from NCBI Gene database.
Entrez ID 3313
Gene name Heat shock protein family A (Hsp70) member 9
Gene symbol HSPA9
Synonyms (NCBI Gene)
CRP40CSAEVPLSGRP-75GRP75HEL-S-124mHSPA9BMOTMOT2MTHSP75PBP74SAANSIDBA4
Chromosome 5
Chromosome location 5q31.2
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs772570880 CT>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
428
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600548 5244 ENSG00000113013
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant sideroblastic anemia Pathogenic rs763817505 RCV000209839
Even-plus syndrome Pathogenic rs751478142, rs765368797 RCV000210028
RCV000209966
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HSPA9-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs772570880, rs1750566588, rs750445193, rs1282522829, rs147492888, rs145860531, rs199863065, rs539813314, rs199858483 RCV003387515
RCV004534695
RCV004545584
RCV004539460
RCV004545604
RCV004541544
RCV004543452
RCV004533500
RCV004740522
Associations from Text MiningDisease 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