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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSA, EVPLS, 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: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, 24189400, 24606901, 25416956, 26702583, 27607350, 28380382, 28514442, 30021884, 31980649
GO:0005524 Function ATP binding IBA 21873635
GO:0005730 Component Nucleolus 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anemia ANEMIA, SIDEROBLASTIC, 4 rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
26491070
Aplasia cutis congenita Aplasia Cutis Congenita rs587777706
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 15108329 ClinVar
Renal hypoplasia Congenital hypoplasia of kidney ClinVar
Sideroblastic Anemia autosomal dominant sideroblastic anemia, autosomal recessive sideroblastic anemia GenCC
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
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