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 cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudoge... See more...

Aliases for HSPA9 Gene

Aliases for HSPA9 Gene

  • Heat Shock Protein Family A (Hsp70) Member 9 2 3 5
  • Stress-70 Protein, Mitochondrial 2 3 4
  • 75 KDa Glucose-Regulated Protein 2 3 4
  • Heat Shock 70kDa Protein 9 (Mortalin) 2 3
  • Peptide-Binding Protein 74 3 4
  • Mortalin2 2 3
  • Mortalin 2 4
  • HSPA9B 3 4
  • GRP-75 3 4
  • GRP75 3 4
  • PBP74 3 4
  • MOT 3 4
  • Epididymis Secretory Sperm Binding Protein Li 124m 3
  • Heat Shock 70kDa Protein 9B (Mortalin-2) 2
  • Catecholamine-Regulated Protein 40 3
  • Heat Shock 70 KDa Protein 9 4
  • Heat Shock 70kD Protein 9B 3
  • Mortalin, Perinuclear 3
  • P66-Mortalin 3
  • HEL-S-124m 3
  • Mortalin-2 3
  • Mt-HSP70 4
  • MTHSP75 3
  • SIDBA4 3
  • CRP40 3
  • EVPLS 3
  • MOT2 3
  • SAAN 3
  • CSA 3

External Ids for HSPA9 Gene

Previous HGNC Symbols for HSPA9 Gene

  • HSPA9B

Previous GeneCards Identifiers for HSPA9 Gene

  • GC05M137920
  • GC05M137923
  • GC05M133080
  • GC05M137890

Summaries for HSPA9 Gene

Entrez Gene Summary for HSPA9 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 cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]

GeneCards Summary for HSPA9 Gene

HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9) is a Protein Coding gene. Diseases associated with HSPA9 include Even-Plus Syndrome and Anemia, Sideroblastic, 4. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding. An important paralog of this gene is HSPA5.

UniProtKB/Swiss-Prot Summary for HSPA9 Gene

  • Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). May play a role in the control of cell proliferation and cellular aging (By similarity).

Gene Wiki entry for HSPA9 Gene

Additional gene information for HSPA9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPA9 Gene

Genomics for HSPA9 Gene

GeneHancer (GH) Regulatory Elements for HSPA9 Gene

Promoters and enhancers for HSPA9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J138573 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.6 627 3.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G USF1 HSPA9 lnc-CTNNA1-5 HNRNPA0 BRD8 CDC23 KDM3B RPL7P19 DNAJC18 ETF1 STING1
GH05J138577 Enhancer 0.3 ENCODE 500.7 -1.9 -1948 0.1 ZNF770 HSPA9 lnc-CTNNA1-5 lnc-CTNNA1-1 LOC105379193 RF00017-4921
GH05J138463 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +108.9 108886 7.3 HNRNPK ZBTB40 EP300 CTCF SIN3A NRF1 POLR2G SP1 NCOR1 GTF2E2 EGR1 lnc-ETF1-3 HNRNPA0 CDC23 BRD8 KDM3B RPL7P19 REEP2 ETF1 MATR3
GH05J138752 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -178.4 -178437 3.5 ZNF217 EP300 CTCF SIN3A POLR2G NCOR1 PHF8 JUND FOS ZFX ENSG00000253404 LOC105379194 lnc-EGR1-3 CTNNA1 HNRNPA0 KDM3B MATR3 RPL7P19 REEP2 DNAJC18
GH05J138438 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +136.2 136228 2.4 EP300 NRF1 POLR2G ZNF10 ZIC2 ZNF423 ZNF623 ZBTB26 REST RFX1 REEP2 SNORD63B SNORD63 HSPA9 ENSG00000271196 RF00017-4921
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPA9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSPA9

Top Transcription factor binding sites by QIAGEN in the HSPA9 gene promoter:
  • AML1a
  • Bach2
  • c-Myc
  • C/EBPalpha
  • Evi-1
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for HSPA9 Gene

Genomic Locations for HSPA9 Gene
chr5:138,553,756-138,575,629
(GRCh38/hg38)
Size:
21,874 bases
Orientation:
Minus strand
chr5:137,890,571-137,911,318
(GRCh37/hg19)
Size:
20,748 bases
Orientation:
Minus strand

Genomic View for HSPA9 Gene

Genes around HSPA9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPA9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPA9 Gene

Proteins for HSPA9 Gene

  • Protein details for HSPA9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38646-GRP75_HUMAN
    Recommended name:
    Stress-70 protein, mitochondrial
    Protein Accession:
    P38646
    Secondary Accessions:
    • B2RCM1
    • P30036
    • P31932
    • Q1HB43
    • Q53H23
    • Q6GU03
    • Q9BWB7
    • Q9UC56

    Protein attributes for HSPA9 Gene

    Size:
    679 amino acids
    Molecular mass:
    73680 Da
    Quaternary structure:
    • Interacts strongly with the intermediate form of FXN and weakly with its mature form (PubMed:17331979, PubMed:26702583). Interacts with HSCB (PubMed:20668094). Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:22114354). Interacts with DNLZ, the interaction is required to prevent self-aggregation (PubMed:23462535). Interacts with TESPA1 (PubMed:23501103). Interacts with PDPN (PubMed:23541579). Interacts with NFU1, NFS1 and ISCU (PubMed:26702583).

    Three dimensional structures from OCA and Proteopedia for HSPA9 Gene

neXtProt entry for HSPA9 Gene

Post-translational modifications for HSPA9 Gene

  • Ubiquitination at Lys121, Lys368, and Lys646
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HSPA9 Gene

Domains & Families for HSPA9 Gene

Gene Families for HSPA9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HSPA9 Gene

Blocks:
  • Heat shock protein Hsp70
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HSPA9 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51907, highly similar to Stress-70 protein, mitochondrial (B7Z4V2_HUMAN)
  • Peptide-binding protein 74 (GRP75_HUMAN)
  • HSPA9 protein (Q8N1C8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P38646

UniProtKB/Swiss-Prot:

GRP75_HUMAN :
  • Belongs to the heat shock protein 70 family.
Family:
  • Belongs to the heat shock protein 70 family.
genes like me logo Genes that share domains with HSPA9: view

Function for HSPA9 Gene

Molecular function for HSPA9 Gene

UniProtKB/Swiss-Prot Function:
Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). May play a role in the control of cell proliferation and cellular aging (By similarity).

Phenotypes From GWAS Catalog for HSPA9 Gene

Gene Ontology (GO) - Molecular Function for HSPA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 10411904
GO:0005524 ATP binding IBA,IEA 21873635
GO:0016887 ATPase activity IBA 21873635
GO:0019899 enzyme binding IEA --
genes like me logo Genes that share ontologies with HSPA9: view
genes like me logo Genes that share phenotypes with HSPA9: view

Human Phenotype Ontology for HSPA9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HSPA9 Gene

Localization for HSPA9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPA9 Gene

Mitochondrion. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPA9 gene
Compartment Confidence
mitochondrion 5
nucleus 4
endoplasmic reticulum 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSPA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005739 mitochondrion IBA,TAS 16130169
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HSPA9: view

Pathways & Interactions for HSPA9 Gene

PathCards logo

SuperPathways for HSPA9 Gene

SuperPathway Contained pathways
1 Cellular response to heat stress
2 Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
.37
.37
3 Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
.97
4 Translational Control
5 Deadenylation-dependent mRNA decay
genes like me logo Genes that share pathways with HSPA9: view

Pathways by source for HSPA9 Gene

6 GeneGo (Thomson Reuters) pathways for HSPA9 Gene
  • CFTR folding and maturation (norm and CF)
  • Development_Glucocorticoid receptor signaling
  • Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
  • Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
  • Proteolysis_Putative ubiquitin pathway
1 Cell Signaling Technology pathway for HSPA9 Gene
1 GeneTex pathway for HSPA9 Gene

SIGNOR curated interactions for HSPA9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HSPA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA --
GO:0006611 protein export from nucleus IEA --
GO:0006986 response to unfolded protein IBA 21873635
GO:0016226 iron-sulfur cluster assembly IEA,IMP 26702583
GO:0030218 erythrocyte differentiation IMP 21123823
genes like me logo Genes that share ontologies with HSPA9: view

Drugs & Compounds for HSPA9 Gene

(5) Drugs for HSPA9 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MKT 077 Pharma Binds mot-2; selectively cytotoxic in cancer cells 0

(3) Additional Compounds for HSPA9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for HSPA9 Gene

Compound Action Cas Number
MKT 077 147366-41-4
genes like me logo Genes that share compounds with HSPA9: view

Transcripts for HSPA9 Gene

mRNA/cDNA for HSPA9 Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPA9 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6: - - - - - - - -
SP7:
SP8:
SP9: - - - -

ExUns: 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - - - - -

Relevant External Links for HSPA9 Gene

GeneLoc Exon Structure for
HSPA9

Expression for HSPA9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSPA9 Gene

Protein differential expression in normal tissues from HIPED for HSPA9 Gene

This gene is overexpressed in Nasal epithelium (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSPA9 Gene



Protein tissue co-expression partners for HSPA9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSPA9

SOURCE GeneReport for Unigene cluster for HSPA9 Gene:

Hs.184233

Evidence on tissue expression from TISSUES for HSPA9 Gene

  • Nervous system(5)
  • Liver(4.8)
  • Muscle(4.7)
  • Lung(4.2)
  • Skin(4.2)
  • Kidney(4.1)
  • Intestine(3.9)
  • Blood(3.7)
  • Heart(3.4)
  • Adrenal gland(2.9)
  • Spleen(2.8)
  • Bone marrow(2.7)
  • Lymph node(2.7)
  • Stomach(2.7)
  • Eye(2.4)
  • Gall bladder(2.4)
  • Pancreas(2.4)
  • Thyroid gland(2.4)
  • Bone(2)
genes like me logo Genes that share expression patterns with HSPA9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPA9 Gene

Orthologs for HSPA9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSPA9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPA9 31 30
  • 99.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSPA9 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSPA9 31 30
  • 92.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSPA9 31 30
  • 92.69 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hspa9 30
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Hspa9 17 31 30
  • 90.28 (n)
chicken
(Gallus gallus)
Aves HSPA9 31 30
  • 81.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPA9 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspa9 30
  • 78.16 (n)
Str.4363 30
African clawed frog
(Xenopus laevis)
Amphibia hspa9b-prov 30
zebrafish
(Danio rerio)
Actinopterygii hspa9 31 30
  • 76.85 (n)
OneToOne
hspa9b 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.697 30
fruit fly
(Drosophila melanogaster)
Insecta Hsc70-5 31 30
  • 68.23 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010876 30
  • 67.88 (n)
worm
(Caenorhabditis elegans)
Secernentea hsp-6 31 30
  • 66.77 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22309g 30
  • 63.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSC1 30
  • 62.85 (n)
SSA2 31
  • 50 (a)
OneToMany
ECM10 33
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR352C 30
  • 62.24 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons mtHsc70-1 30
  • 63.49 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7686 30
rice
(Oryza sativa)
Liliopsida Os09g0491772 30
  • 62.13 (n)
corn
(Zea mays)
Liliopsida Zm.700 30
bread mold
(Neurospora crassa)
Ascomycetes NCU08693 30
  • 61.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ssc1 30
  • 60.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
ManyToMany
Cin.4684 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4684 30
Species where no ortholog for HSPA9 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPA9 Gene

ENSEMBL:
Gene Tree for HSPA9 (if available)
TreeFam:
Gene Tree for HSPA9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPA9: view image

Paralogs for HSPA9 Gene

(15) SIMAP similar genes for HSPA9 Gene using alignment to 9 proteins:

  • GRP75_HUMAN
  • D6RA73_HUMAN
  • D6RCD7_HUMAN
  • D6RDH7_HUMAN
  • D6RJI2_HUMAN
  • H0Y8K0_HUMAN
  • H0Y8S0_HUMAN
  • H0YBG6_HUMAN
  • Q8N1C8_HUMAN

Pseudogenes.org Pseudogenes for HSPA9 Gene

genes like me logo Genes that share paralogs with HSPA9: view

Variants for HSPA9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSPA9 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
718997 Likely Benign: not provided 138,568,971(-) C/T SYNONYMOUS_VARIANT
725734 Benign: not provided 138,575,243(-) G/A MISSENSE_VARIANT
733831 Likely Benign: not provided 138,557,411(-) C/G SYNONYMOUS_VARIANT
736861 Likely Benign: not provided 138,568,982(-) A/G SYNONYMOUS_VARIANT
737310 Likely Benign: not provided 138,574,128(-) T/TA INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HSPA9 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSPA9 Gene

Variant ID Type Subtype PubMed ID
nsv599818 CNV loss 21841781
nsv968991 CNV duplication 23825009

Variation tolerance for HSPA9 Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPA9 Gene

Human Gene Mutation Database (HGMD)
HSPA9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPA9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPA9 Gene

Disorders for HSPA9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HSPA9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
even-plus syndrome
  • evpls
anemia, sideroblastic, 4
  • sidba4
autosomal recessive sideroblastic anemia
  • congenital sideroblastic anemia
sideroblastic anemia
  • anemia sideroblastic
autosomal recessive disease
  • autosomal recessive disorder
- elite association - COSMIC cancer census association via MalaCards
Search HSPA9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRP75_HUMAN
  • Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170]: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families. {ECO:0000269 PubMed:26491070}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Even-plus syndrome (EVPLS) [MIM:616854]: An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others. {ECO:0000269 PubMed:26598328}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSPA9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSPA9: view

No data available for Genatlas for HSPA9 Gene

Publications for HSPA9 Gene

  1. Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease. (PMID: 19657588) De Mena L … Alvarez V (Journal of neural transmission (Vienna, Austria : 1996) 2009) 3 23 41 54
  2. Cloning of the gene encoding peptide-binding protein 74 shows that it is a new member of the heat shock protein 70 family. (PMID: 7684501) Domanico SZ … Pierce SK (Molecular and cellular biology 1993) 2 3 4 54
  3. Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly. (PMID: 26702583) Shan Y … Cortopassi G (Mitochondrion 2016) 3 4 54
  4. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. (PMID: 26598328) Royer-Bertrand B … Superti-Furga A (Scientific reports 2015) 3 4 54
  5. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. (PMID: 26491070) Schmitz-Abe K … Fleming MD (Blood 2015) 3 4 54

Products for HSPA9 Gene