Aliases for HSPA12A Gene

Aliases for HSPA12A Gene

  • Heat Shock Protein Family A (Hsp70) Member 12A 2 3 5
  • Heat Shock 70 KDa Protein 12A 3 4
  • Heat Shock 70kDa Protein 12A 2 3
  • Heat Shock 70kD Protein 12A 2 3
  • KIAA0417 2 4
  • FLJ13874 2
  • HSPA12A 5

External Ids for HSPA12A Gene

Previous GeneCards Identifiers for HSPA12A Gene

  • GC00U991243
  • GC10U900081
  • GC10M118095
  • GC10M118420
  • GC10M112058

Summaries for HSPA12A Gene

GeneCards Summary for HSPA12A Gene

HSPA12A (Heat Shock Protein Family A (Hsp70) Member 12A) is a Protein Coding gene. Diseases associated with HSPA12A include Leukoencephalopathy With Vanishing White Matter. Among its related pathways are Cellular response to heat stress and Cellular Senescence (REACTOME). An important paralog of this gene is HSPA12B.

UniProtKB/Swiss-Prot Summary for HSPA12A Gene

  • Adapter protein for SORL1, but not SORT1. Delays SORL1 internalization and affects SORL1 subcellular localization.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPA12A Gene

Genomics for HSPA12A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSPA12A 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
GH10J116741 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 260.6 +110.9 110926 3.1 ZNF600 ZMYM3 POLR2A ZIC2 CHD4 ZNF341 MAX SIN3A SP2 SAP130 HSPA12A HSALNG0080874 lnc-C10orf82-1 C10orf82 ENO4
GH10J116694 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 18.2 +158.8 158771 1.4 ZIC2 MXD4 ZNF341 KDM6A SMAD4 SAP130 MIER3 RARA GABPB1 DMAP1 HSALNG0080871 HSALNG0080872 HSPA12A NONHSAG006945.2 C10orf82 ENO4
GH10J116767 Enhancer 1 Ensembl ENCODE 20 +83.1 83071 7.6 CEBPA CEBPB CTCF RXRA SMAD4 SAP130 ETV4 RARA TEAD3 FOSL2 HSPA12A C10orf82 LOC105378499 HSALNG0080876 LOC105378498 lnc-C10orf82-3 ENO4
GH10J116690 Enhancer 0.7 Ensembl ENCODE 17.6 +161.7 161672 2.8 ZIC2 CTCF RAD21 SCRT1 GLIS1 SMC3 NR2F2 KDM1A SCRT2 HSPA12A C10orf82 HSALNG0080871 NONHSAG006945.2 ENO4
GH10J116269 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5.5 +580.7 580689 5.7 ZNF600 ZNF580 ATF2 ZSCAN16 ZIC2 ZBTB10 YY1 FEZF1 ZNF341 KLF7 GFRA1 LOC107984273 lnc-C10orf82-2 HSPA12A HSALNG0080847 SNORD158
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPA12A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSPA12A

Top Transcription factor binding sites by QIAGEN in the HSPA12A gene promoter:
  • C/EBPalpha
  • CHOP-10
  • E47
  • Lhx3a
  • LHX3b
  • Olf-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for HSPA12A Gene

Latest Assembly
chr10:116,671,192-116,853,272
(GRCh38/hg38)
Size:
182,081 bases
Orientation:
Minus strand

Previous Assembly
chr10:118,430,703-118,609,233
(GRCh37/hg19 by Entrez Gene)
Size:
178,531 bases
Orientation:
Minus strand

chr10:118,430,703-118,502,085
(GRCh37/hg19 by Ensembl)
Size:
71,383 bases
Orientation:
Minus strand

Genomic View for HSPA12A Gene

Genes around HSPA12A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPA12A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPA12A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPA12A Gene

Proteins for HSPA12A Gene

  • Protein details for HSPA12A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43301-HS12A_HUMAN
    Recommended name:
    Heat shock 70 kDa protein 12A
    Protein Accession:
    O43301

    Protein attributes for HSPA12A Gene

    Size:
    675 amino acids
    Molecular mass:
    74978 Da
    Quaternary structure:
    • Interacts with SORL1 (via cytosolic C-terminus); this interaction affects SORL1 internalization and subcellular localization.
    SequenceCaution:
    • Sequence=BAA24847.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HSPA12A Gene

Post-translational modifications for HSPA12A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for HSPA12A

No data available for DME Specific Peptides for HSPA12A Gene

Domains & Families for HSPA12A Gene

Gene Families for HSPA12A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HSPA12A Gene

InterPro:

Suggested Antigen Peptide Sequences for HSPA12A Gene

GenScript: Design optimal peptide antigens:
  • Heat shock 70 kDa protein 12A (HS12A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43301

UniProtKB/Swiss-Prot:

HS12A_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 HSPA12A: view

Function for HSPA12A Gene

Molecular function for HSPA12A Gene

UniProtKB/Swiss-Prot Function:
Adapter protein for SORL1, but not SORT1. Delays SORL1 internalization and affects SORL1 subcellular localization.

Phenotypes From GWAS Catalog for HSPA12A Gene

Gene Ontology (GO) - Molecular Function for HSPA12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 30679749
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HSPA12A: view
genes like me logo Genes that share phenotypes with HSPA12A: view

Animal Models for HSPA12A Gene

MGI Knock Outs for HSPA12A:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPA12A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSPA12A Gene

Localization for HSPA12A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPA12A Gene

Cytoplasm. Nucleus.

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 HSPA12A gene
Compartment Confidence
extracellular 4
nucleus 4
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSPA12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with HSPA12A: view

Pathways & Interactions for HSPA12A Gene

genes like me logo Genes that share pathways with HSPA12A: view

Pathways by source for HSPA12A Gene

Gene Ontology (GO) - Biological Process for HSPA12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with HSPA12A: view

No data available for SIGNOR curated interactions for HSPA12A Gene

Drugs & Compounds for HSPA12A Gene

No Compound Related Data Available

Transcripts for HSPA12A Gene

mRNA/cDNA for HSPA12A Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPA12A

Alternative Splicing Database (ASD) splice patterns (SP) for HSPA12A Gene

No ASD Table

Relevant External Links for HSPA12A Gene

GeneLoc Exon Structure for
HSPA12A

Expression for HSPA12A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSPA12A Gene

mRNA differential expression in normal tissues according to GTEx for HSPA12A Gene

This gene is overexpressed in Nerve - Tibial (x4.8) and Brain - Frontal Cortex (BA9) (x4.0).

Protein differential expression in normal tissues from HIPED for HSPA12A Gene

This gene is overexpressed in Frontal cortex (20.0), Brain (13.0), Spinal cord (11.2), and Retina (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSPA12A Gene



Protein tissue co-expression partners for HSPA12A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSPA12A

SOURCE GeneReport for Unigene cluster for HSPA12A Gene:

Hs.648448

mRNA Expression by UniProt/SwissProt for HSPA12A Gene:

O43301-HS12A_HUMAN
Tissue specificity: Widely expressed with highest levels in brain, kidney and muscle.

Evidence on tissue expression from TISSUES for HSPA12A Gene

  • Nervous system(4.9)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with HSPA12A: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPA12A Gene

Orthologs for HSPA12A Gene

This gene was present in the common ancestor of chordates.

Orthologs for HSPA12A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HSPA12A 29 30
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSPA12A 29 30
  • 92.35 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HSPA12A 30
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia HSPA12A 29 30
  • 91.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HSPA12A 30
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hspa12a 29
  • 89.37 (n)
Mouse
(Mus musculus)
Mammalia Hspa12a 29 16 30
  • 89.32 (n)
OneToOne
Chicken
(Gallus gallus)
Aves HSPA12A 29 30
  • 78.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HSPA12A 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hspa12a 29
  • 77.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii hspa12a 30
  • 81 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 53 (a)
OneToMany
Species where no ortholog for HSPA12A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HSPA12A Gene

ENSEMBL:
Gene Tree for HSPA12A (if available)
TreeFam:
Gene Tree for HSPA12A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPA12A: view image
Alliance of Genome Resources:
Additional Orthologs for HSPA12A

Paralogs for HSPA12A Gene

Paralogs for HSPA12A Gene

(1) SIMAP similar genes for HSPA12A Gene using alignment to 3 proteins:

  • HS12A_HUMAN
  • K7ELE6_HUMAN
  • K7ENF6_HUMAN
genes like me logo Genes that share paralogs with HSPA12A: view

Variants for HSPA12A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSPA12A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HSPA12A Gene

Variant ID Type Subtype PubMed ID
esv1009263 CNV insertion 20482838
esv1124964 CNV insertion 17803354
esv2092121 CNV deletion 18987734
esv2666855 CNV deletion 23128226
esv2741295 CNV deletion 23290073
esv2741306 CNV deletion 23290073
esv3624662 CNV gain 21293372
esv3624663 CNV gain 21293372
esv3624664 CNV loss 21293372
nsv1143653 CNV deletion 24896259
nsv7562 CNV deletion 18451855
nsv825576 CNV gain 20364138

Variation tolerance for HSPA12A Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPA12A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPA12A
Leiden Open Variation Database (LOVD)
HSPA12A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSPA12A Gene

Disorders for HSPA12A Gene

MalaCards: The human disease database

(1) MalaCards diseases for HSPA12A Gene - From: COP

Disorder Aliases PubMed IDs
leukoencephalopathy with vanishing white matter
  • vwm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSPA12A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HSPA12A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSPA12A Gene

Publications for HSPA12A Gene

  1. Two Hsp70 family members expressed in atherosclerotic lesions. (PMID: 12552099) Han Z … Breslow JL (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4
  2. HSPA12A targets the cytoplasmic domain and affects the trafficking of the Amyloid Precursor Protein receptor SorLA. (PMID: 30679749) Madsen P … Nielsen MS (Scientific reports 2019) 3 4
  3. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr JM … Deary IJ (Mechanisms of ageing and development 2008) 3 40
  4. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PMID: 17601350) Harris SE … Deary IJ (BMC genetics 2007) 3 40
  5. Heat shock protein 12A shows reduced expression in the prefrontal cortex of subjects with schizophrenia. (PMID: 15601604) Pongrac JL … Mirnics K (Biological psychiatry 2004) 3 22

Products for HSPA12A Gene

Sources for HSPA12A Gene