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HSPA9 Gene(Protein Coding)

Heat Shock Protein Family A (Hsp70) Member 9

GCID:
GC05M138554
GIFtS:
57
Genes Participants
UDN Logo

Aliases for HSPA9 Gene

Aliases for HSPA9 Gene

  • Heat Shock Protein Family A (Hsp70) Member 9 2 3 5
  • Heat Shock 70kDa Protein 9 (Mortalin) 2 3
  • 75 KDa Glucose-Regulated Protein 3 4
  • 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
  • Stress-70 Protein, Mitochondrial 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 Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Development_Glucocorticoid receptor signaling. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding. An important paralog of this gene is HSPA5.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for HSPA9 Gene

Genomics for HSPA9 Gene

Products:

  1. Regulatory Element

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
GH05I138573 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 627 3.6 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D HSPA9 HNRNPA0 KDM3B DNAJC18 MATR3 CTNNA1 GC05M138563 GC05M138564 SNORD63 PIR31839
GH05I138577 Enhancer 0.2 ENCODE 550.8 -1.9 -1948 0.1 HSPA9 LOC105379193 RPL10AP10
GH05I138752 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 -178.5 -178481 3.4 SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B IRF4 LOC105379194 CTNNA1 MATR3 REEP2 DNAJC18 LRRTM2 HSPA9 GC05P138766
GH05I138438 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 10.9 +136.3 136287 1.9 RB1 ZFP64 ZEB1 ZNF335 ZNF23 GLIS2 ZNF366 ZNF391 BCLAF1 EGR2 REEP2 SNORD63B SNORD63 HSPA9 GC05P138442 GC05M138244
GH05I139341 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.2 -766.7 -766686 2.6 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZNF610 PAIP2 KDM3B PURA RPL7P19 SLC23A1 MZB1 PROB1 MATR3 SNORA74A SIL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSPA9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPA9 gene promoter:

Genomic Locations for HSPA9 Gene

Genomic Locations for HSPA9 Gene
chr5:138,554,882-138,575,629
(GRCh38/hg38)
Size:
20,748 bases
Orientation:
Minus strand
chr5:137,890,571-137,911,318
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for HSPA9 Gene

Proteins for HSPA9 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 MINOS1/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

Protein Expression for HSPA9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HSPA9 Gene

  • Ubiquitination at posLast=121121 and isoforms=646

Other Protein References for HSPA9 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HSPA9 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 IDA,HDA 22658674
GO:0005515 protein binding IPI 10411904
GO:0005524 ATP binding IEA --
GO:0019899 enzyme binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 19725078
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
extracellular 5
mitochondrion 5
nucleus 4
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

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 7684501
GO:0005739 mitochondrion TAS 16130169
GO:0005759 mitochondrial matrix IEA,TAS --
genes like me logo Genes that share ontologies with HSPA9: view

Pathways & Interactions for HSPA9 Gene

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

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:0016226 iron-sulfur cluster assembly IEA,IMP 26702583
GO:0030218 erythrocyte differentiation IMP 21123823
GO:0035722 interleukin-12-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with HSPA9: view

Drugs & Compounds for HSPA9 Gene

Products:

  1. Drug

(6) 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

(2) 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

Drug Products

Transcripts for HSPA9 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HSPA9 Gene

(1) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(1018) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HSPA9 Gene

Heat shock 70kDa protein 9 (mortalin):
Representative Sequences:

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
ECgene alternative splicing isoforms for
HSPA9

Expression for HSPA9 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for HSPA9 Gene
mRNA expression by GTEx for HSPA9 GenemRNA expression by BioGPS 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, PaxDb, MaxQB, and MOPED for HSPA9 Gene



Protein tissue co-expression partners for HSPA9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPA9 Gene:

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)
  • Lymph node(2.8)
  • Spleen(2.8)
  • Bone marrow(2.7)
  • Eye(2.4)
  • Gall bladder(2.4)
  • Pancreas(2.4)
  • Stomach(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 33 34
  • 99.85 (n)
oppossum
(Monodelphis domestica)
 Mammalia HSPA9 34
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia HSPA9 33 34
  • 92.73 (n)
cow
(Bos Taurus)
 Mammalia HSPA9 33 34
  • 92.69 (n)
rat
(Rattus norvegicus)
 Mammalia Hspa9 33
  • 90.62 (n)
mouse
(Mus musculus)
 Mammalia Hspa9 33 16 34
  • 90.28 (n)
chicken
(Gallus gallus)
 Aves HSPA9 33 34
  • 81.25 (n)
lizard
(Anolis carolinensis)
 Reptilia HSPA9 34
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hspa9 33
  • 78.16 (n)
Str.4363 33
African clawed frog
(Xenopus laevis)
 Amphibia hspa9b-prov 33
zebrafish
(Danio rerio)
 Actinopterygii hspa9 33 34
  • 76.85 (n)
hspa9b 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.697 33
fruit fly
(Drosophila melanogaster)
 Insecta Hsc70-5 33 34
  • 68.23 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010876 33
  • 67.88 (n)
worm
(Caenorhabditis elegans)
 Secernentea hsp-6 33 34
  • 66.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E22309g 33
  • 63.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SSC1 33
  • 62.85 (n)
SSA2 34
  • 50 (a)
 OneToMany
ECM10 36
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR352C 33
  • 62.24 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons mtHsc70-1 33
  • 63.49 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7686 33
rice
(Oryza sativa)
 Liliopsida Os09g0491772 33
  • 62.13 (n)
corn
(Zea mays)
 Liliopsida Zm.700 33
bread mold
(Neurospora crassa)
 Ascomycetes NCU08693 33
  • 61.61 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes ssc1 33
  • 60.24 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 47 (a)
 ManyToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4684 33
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)

Paralogs for HSPA9 Gene

Paralogs for HSPA9 Gene

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

Pseudogenes.org Pseudogenes for HSPA9 Gene

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

Variants for HSPA9 Gene

Sequence variations from dbSNP and Humsavar for HSPA9 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs751478142 pathogenic, Even-plus syndrome, Even-plus syndrome (EVPLS) [MIM:616854] 138,570,994(-) G/A coding_sequence_variant, missense_variant
rs763817505 pathogenic, Anemia, sideroblastic, 4 138,570,960(-) AT/ coding_sequence_variant, stop_gained
rs765368797 pathogenic, Even-plus syndrome, Even-plus syndrome (EVPLS) [MIM:616854] 138,570,987(-) T/C coding_sequence_variant, missense_variant
rs768283289 Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170] 138,567,537(-) A/G coding_sequence_variant, missense_variant
rs772570880 pathogenic, Even-plus syndrome 138,566,715(-) CT/ coding_sequence_variant, frameshift

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

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

Disorders for HSPA9 Gene

MalaCards: The human disease database

(9) MalaCards diseases for HSPA9 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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
cowchock syndrome
  • cowck
- 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 22 44 58
  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 58
  3. Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly. (PMID: 26702583) Shan Y … Cortopassi G (Mitochondrion 2016) 3 4 58
  4. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. (PMID: 26491070) Schmitz-Abe K … Fleming MD (Blood 2015) 3 4 58
  5. 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 58

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