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
External Ids for HSPA9 Gene
- HGNC: 5244
- Entrez Gene: 3313
- Ensembl: ENSG00000113013
- OMIM: 600548
- UniProtKB: P38646
Previous HGNC Symbols for HSPA9 Gene
- HSPA9B
Previous GeneCards Identifiers for HSPA9 Gene
- GC05M137920
- GC05M137923
- GC05M133080
- GC05M137890
Summaries 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).
Additional gene information for HSPA9 Gene
- Monarch Initiative
- Search for HSPA9 at DataMed
- Search for HSPA9 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPA9 Gene
Genomics for HSPA9 Gene
GeneHancer (GH) Regulatory Elements for HSPA9 Gene
- Top Transcription factor binding sites by QIAGEN in the HSPA9 gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 5q31.2 by Ensembl
- 5q31.2 by Entrez Gene
- 5q31.2 by HGNC


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
- 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).
Protein Expression for HSPA9 Gene
Post-translational modifications for HSPA9 Gene
- Ubiquitination at posLast=121121 and isoforms=646
Other Protein References for HSPA9 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for HSPA9 (GRP75/HSPA9B)
- Cell Signaling Technology (CST) Antibodies for HSPA9 (HSPA9B)
- Novus Biologicals Antibodies for HSPA9
-
Abcam antibodies for HSPA9
-
Cloud-Clone Corp. Antibodies for HSPA9
- Invitrogen Antibodies for HSPA9
- GeneTex HSPA9 antibody for HSPA9
-
Santa Cruz Biotechnology (SCBT) Antibodies for HSPA9
Protein Products
-
OriGene Purified Proteins for HSPA9
- Search Origene for MassSpec and Protein Over-expression Lysates for HSPA9
- Origene Custom Protein Services for HSPA9
- ProSpec Recombinant Proteins for HSPA9
-
Cloud-Clone Corp. Proteins for HSPA9
- Search GeneTex for Proteins for HSPA9
-
Abcam proteins for HSPA9
Assay Products
- antibodies-online: Search results for 3 available HSPA9 Elisa Kits ranked by validation data
- Compare Top HSPA9 Elisa Kits
-
Quality Products:
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- Family:
-
- Belongs to the heat shock protein 70 family.
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
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 |
Phenotypes for HSPA9 Gene
- MGI mutant phenotypes for HSPA9:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HSPA9:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased G1 DNA content
- Wnt reporter downregulated
- Decreased viability of wild-type and TP53 knockout cells
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability after ionizing radiation
- Decreased human parainfluenza virus type 3 (HPIV3) infection
- Increased proliferation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HSPA9
-
-
ViGene Biosciences lentiviral particle packaged cDNA for HSPA9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HSPA9 gene
- Search ViGene Biosciences for HSPA9
CRISPR Products
-
OriGene CRISPR knockouts for HSPA9
- genomics-online: gRNA clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
- Applied Biological Materials CRISPR for HSPA9
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSPA9
- GenScript: Design CRISPR guide RNA sequences for HSPA9
miRNA for HSPA9 Gene
- miRTarBase miRNAs that target HSPA9
miRNA Products
- Search ViGene Biosciences for HSPA9
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HSPA9
- Browse OriGene Inhibitory RNA Products For HSPA9
- genomics-online: shRNA clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HSPA9 gene
Clone Products
- Sino Biological Human cDNA Clone for HSPA9
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for HSPA9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HSPA9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HSPA9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for HSPA9 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HSPA9 gene
-
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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.
- Mitochondria (4)
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 | -- |
Pathways & Interactions for HSPA9 Gene
Pathways by source for HSPA9 Gene
1 GeneTex pathway for HSPA9 Gene
1 Cell Signaling Technology pathway for HSPA9 Gene
1 BioSystems pathway for HSPA9 Gene
5 Reactome pathways for HSPA9 Gene
2 KEGG pathways for HSPA9 Gene
6 GeneGo (Thomson Reuters) pathways for HSPA9 Gene
Interacting Proteins 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 | -- |
Drugs & Compounds for HSPA9 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
MKT 077 | Pharma | Binds mot-2; selectively cytotoxic in cancer cells | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
(1) ApexBio Compounds for HSPA9 Gene
Compound | Action | Cas Number |
---|---|---|
MKT 077 | 147366-41-4 |
Transcripts for HSPA9 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for HSPA9
- genomics-online: gRNA clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
- Applied Biological Materials CRISPR for HSPA9
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSPA9
- GenScript: Design CRISPR guide RNA sequences for HSPA9
miRNA Products
- Search ViGene Biosciences for HSPA9
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HSPA9
- Browse OriGene Inhibitory RNA Products For HSPA9
- genomics-online: shRNA clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HSPA9 gene
Clone Products
- Sino Biological Human cDNA Clone for HSPA9
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for HSPA9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HSPA9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HSPA9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: | - | - | - | - | - | - |
Expression for HSPA9 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HSPA9 Gene
NURSA nuclear receptor signaling pathways regulating expression of HSPA9 Gene:
HSPA9SOURCE GeneReport for Unigene cluster for HSPA9 Gene:
Hs.184233Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for HSPA9
-
OriGene qPCR primer pairs and template standards for HSPA9
- genomics-online: primer clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | HSPA9 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | HSPA9 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | HSPA9 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | HSPA9 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Hspa9 33 |
|
||
mouse (Mus musculus) |
Mammalia | Hspa9 33 16 34 |
|
||
chicken (Gallus gallus) |
Aves | HSPA9 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | HSPA9 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | hspa9 33 |
|
||
Str.4363 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | hspa9b-prov 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | hspa9 33 34 |
|
||
hspa9b 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.697 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Hsc70-5 33 34 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010876 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | hsp-6 33 34 |
|
||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E22309g 33 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SSC1 33 |
|
||
SSA2 34 |
|
OneToMany | |||
ECM10 36 |
|
|
|||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR352C 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | mtHsc70-1 33 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7686 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os09g0491772 33 |
|
||
corn (Zea mays) |
Liliopsida | Zm.700 33 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU08693 33 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ssc1 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for HSPA9 Gene
(15) SIMAP similar genes for HSPA9 Gene using alignment to 9 proteins:
Pseudogenes.org Pseudogenes for HSPA9 Gene
Variants 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 |
Additional Variant Information for HSPA9 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPA9 Gene
Disorders for HSPA9 Gene

(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 |
|
|
anemia, sideroblastic, 4 |
|
|
autosomal recessive sideroblastic anemia |
|
|
sideroblastic anemia |
|
|
cowchock syndrome |
|
|
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
No data available for Genatlas for HSPA9 Gene
Publications for HSPA9 Gene
- 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
- 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
- Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly. (PMID: 26702583) Shan Y … Cortopassi G (Mitochondrion 2016) 3 4 58
- Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. (PMID: 26491070) Schmitz-Abe K … Fleming MD (Blood 2015) 3 4 58
- 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
Products for HSPA9 Gene
- R&D Systems Antibodies for HSPA9 (GRP75/HSPA9B)
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- Custom Antibody ServicesOriGene Antibodies for HSPA9
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- Origene Custom Protein Services for HSPA9
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HSPA9
- Browse OriGene Inhibitory RNA Products For HSPA9
- OriGene qPCR primer pairs and template standards for HSPA9
- OriGene qPCR primer pairs for HSPA9
- OriGene CRISPR knockouts for HSPA9
- OriGene ORF clones in human for HSPA9
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HSPA9
- GenScript: Next-day shipping of latest version cDNA ORF clones for HSPA9 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HSPA9
- GenScript Custom Assay Services for HSPA9
- GenScript Custom overexpressing Cell Line Services for HSPA9
- GenScript: Design CRISPR guide RNA sequences for HSPA9
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HSPA9
- Cell Signaling Technology (CST) Antibodies for HSPA9 (HSPA9B)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for HSPA9
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for HSPA9
- Novus Biologicals proteins and lysates for HSPA9
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for HSPA9
- Abcam proteins for HSPA9
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for HSPA9
- Cloud-Clone Corp. Antibodies for HSPA9
- Cloud-Clone Corp. Proteins for HSPA9
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for HSPA9
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for HSPA9
- Cyagen custom Knockout/knockin (KOKI) mouse models for HSPA9
- VectorBuilder custom plasmid, inducible vectors for HSPA9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HSPA9
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 176 available HSPA9 Antibodies ranked by validation data
- Compare Top HSPA9 Antibodies
- antibodies-online: Search results for 3 available HSPA9 Elisa Kits ranked by validation data
- Compare Top HSPA9 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 16 available HSPA9 Proteins ranked by validation data
- Compare Top HSPA9 Proteins
- GeneTex HSPA9 antibody for HSPA9
- Search GeneTex for Proteins for HSPA9
- ViGene Biosciences adenoviral particle packaged cDNA for HSPA9 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HSPA9 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HSPA9 gene
- Search ViGene Biosciences for HSPA9
- Santa Cruz Biotechnology (SCBT) Antibodies for HSPA9
- Search Santa Cruz Biotechnology (SCBT) for HSPA9 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HSPA9
- genomics-online: cdna clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
- orf clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
- genomics-online: gRNA clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
- genomics-online: primer clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
- genomics-online: shRNA clones - Search results for 122 available HSPA9 gene related products
- Overview of 122 available HSPA9 gene related products
Sources for HSPA9 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew