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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant sideroblastic anemia Pathogenic rs763817505 RCV000209839
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Even-plus syndrome Pathogenic rs751478142, rs765368797 RCV000210028
RCV000209966
★★★★☆
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
ANEMIA, SIDEROBLASTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 4 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION 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
5q-syndrome 5q-syndrome BEFREE 26491070
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis BEFREE 31369848
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24770931
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 22683628
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 11898854
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 30136058
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 36121477 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 31027376
★☆☆☆☆
Found in Text Mining only
Anemia Sideroblastic Sideroblastic anemia Pubtator 26491070, 38360212 Associate
★☆☆☆☆
Found in Text Mining only