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Aliases for HSPA12B Gene

Aliases for HSPA12B Gene

  • Heat Shock Protein Family A (Hsp70) Member 12B 2 3 5
  • C20orf60 3 4
  • Chromosome 20 Open Reading Frame 60 2
  • Heat Shock 70 KDa Protein 12B 3
  • Heat Shock 70kD Protein 12B 2

External Ids for HSPA12B Gene

Previous HGNC Symbols for HSPA12B Gene

  • C20orf60

Previous GeneCards Identifiers for HSPA12B Gene

  • GC20P003661

Summaries for HSPA12B Gene

Entrez Gene Summary for HSPA12B Gene

  • The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for HSPA12B Gene

HSPA12B (Heat Shock Protein Family A (Hsp70) Member 12B) is a Protein Coding gene. Among its related pathways are Cellular response to heat stress and Cellular Senescence (REACTOME). An important paralog of this gene is HSPA12A.

Additional gene information for HSPA12B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPA12B Gene

Genomics for HSPA12B Gene

GeneHancer (GH) Regulatory Elements for HSPA12B Gene

Promoters and enhancers for HSPA12B 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
GH20J003731 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 663.6 +0.4 364 2.7 ZNF148 ESRRA ZBTB48 ZNF24 EZH2 NR2F2 HSPA12B PIR58376
GH20J003732 Enhancer 0.6 ENCODE 658.7 -1.5 -1498 0.2 ZNF282 YBX1 PLRG1 LCORL IKZF1 NBN CREB1 ZNF600 FOXP1 HSPA12B SIGLEC1
GH20J003734 Enhancer 0.4 ENCODE 650.7 +1.8 1848 0 ZBTB48 NR2F2 HSPA12B PIR58376
GH20J003676 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 19.6 -52.9 -52933 6.1 ELF3 SIN3A ZNF48 RAD21 ZNF335 ZNF614 GLIS2 ZNF143 THAP11 ZNF654 ADAM33 HSPA12B SIGLEC1 PTPRA CENPB GFRA4
GH20J003753 Enhancer 0.7 ENCODE 44.3 +20.7 20704 0.6 CTCF KLF1 TFAP4 SAP130 ARID4B SIN3A ZNF2 RAD21 POLR2A SMC3 HSPA12B SPEF1 CDC25B CENPB AP5S1 ENSG00000229539 PANK2 PIR58376 C20orf27
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPA12B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPA12B gene promoter:
  • TBP
  • p300
  • IRF-1
  • STAT5A
  • AML1a
  • MZF-1
  • GATA-1
  • Pax-6
  • Elk-1

Genomic Locations for HSPA12B Gene

Genomic Locations for HSPA12B Gene
chr20:3,732,667-3,753,111
(GRCh38/hg38)
Size:
20,445 bases
Orientation:
Plus strand
chr20:3,713,314-3,733,758
(GRCh37/hg19)
Size:
20,445 bases
Orientation:
Plus strand

Genomic View for HSPA12B Gene

Genes around HSPA12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPA12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPA12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPA12B Gene

Proteins for HSPA12B Gene

  • Protein details for HSPA12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MM6-HS12B_HUMAN
    Recommended name:
    Heat shock 70 kDa protein 12B
    Protein Accession:
    Q96MM6
    Secondary Accessions:
    • D3DVX7
    • Q2TAK3
    • Q9BR52

    Protein attributes for HSPA12B Gene

    Size:
    686 amino acids
    Molecular mass:
    75688 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HSPA12B Gene

Post-translational modifications for HSPA12B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HSPA12B Gene

Domains & Families for HSPA12B Gene

Gene Families for HSPA12B Gene

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

Protein Domains for HSPA12B Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96MM6

UniProtKB/Swiss-Prot:

HS12B_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 HSPA12B: view

Function for HSPA12B Gene

Phenotypes From GWAS Catalog for HSPA12B Gene

Gene Ontology (GO) - Molecular Function for HSPA12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HSPA12B: view

Phenotypes for HSPA12B Gene

genes like me logo Genes that share phenotypes with HSPA12B: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSPA12B Gene

Localization for HSPA12B Gene

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 HSPA12B gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 2
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for HSPA12B Gene

Pathways & Interactions for HSPA12B Gene

genes like me logo Genes that share pathways with HSPA12B: view

Pathways by source for HSPA12B Gene

Gene Ontology (GO) - Biological Process for HSPA12B Gene

None

No data available for SIGNOR curated interactions for HSPA12B Gene

Drugs & Compounds for HSPA12B Gene

No Compound Related Data Available

Transcripts for HSPA12B Gene

mRNA/cDNA for HSPA12B Gene

Unigene Clusters for HSPA12B Gene

Heat shock 70kD protein 12B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPA12B Gene

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

Relevant External Links for HSPA12B Gene

GeneLoc Exon Structure for
HSPA12B
ECgene alternative splicing isoforms for
HSPA12B

Expression for HSPA12B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPA12B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HSPA12B Gene

This gene is overexpressed in Brain (8.2) and Fetal gut (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSPA12B Gene



Protein tissue co-expression partners for HSPA12B Gene

NURSA nuclear receptor signaling pathways regulating expression of HSPA12B Gene:

HSPA12B

SOURCE GeneReport for Unigene cluster for HSPA12B Gene:

Hs.516854

mRNA Expression by UniProt/SwissProt for HSPA12B Gene:

Q96MM6-HS12B_HUMAN
Tissue specificity: Highest expression in muscle and heart. Lower levels in liver and kidney.

Evidence on tissue expression from TISSUES for HSPA12B Gene

  • Nervous system(4.3)
  • Liver(4.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with HSPA12B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPA12B Gene

Orthologs for HSPA12B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSPA12B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPA12B 34 33
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSPA12B 34 33
  • 91.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSPA12B 34 33
  • 89.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hspa12b 16 34 33
  • 85.69 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPA12B 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSPA12B 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 35 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia HSPA12B 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspa12b 33
  • 70.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9427 33
zebrafish
(Danio rerio)
Actinopterygii hspa12b 34 33
  • 65.9 (n)
OneToOne
gng3 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00573 33
  • 42.65 (n)
Species where no ortholog for HSPA12B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HSPA12B Gene

ENSEMBL:
Gene Tree for HSPA12B (if available)
TreeFam:
Gene Tree for HSPA12B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPA12B: view image

Paralogs for HSPA12B Gene

Paralogs for HSPA12B Gene

(1) SIMAP similar genes for HSPA12B Gene using alignment to 5 proteins:

  • HS12B_HUMAN
  • B4DLR4_HUMAN
  • B7ZLP2_HUMAN
  • Q5BKZ8_HUMAN
  • Q5JX83_HUMAN
genes like me logo Genes that share paralogs with HSPA12B: view

Variants for HSPA12B Gene

Sequence variations from dbSNP and Humsavar for HSPA12B Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000354855 -- 3,743,118(+) T/G intron_variant
rs1000407158 -- 3,742,542(+) G/A intron_variant
rs1000448222 -- 3,747,860(+) G/A intron_variant
rs1000496065 -- 3,747,520(+) A/G intron_variant
rs1000651724 -- 3,747,878(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HSPA12B Gene

Variant ID Type Subtype PubMed ID
esv3575355 CNV gain 25503493
esv3645047 CNV loss 21293372
nsv179720 CNV deletion 16902084
nsv470536 CNV loss 18288195
nsv520565 CNV loss 19592680
nsv585284 CNV loss 21841781
nsv585285 CNV loss 21841781
nsv585286 CNV loss 21841781
nsv828673 CNV gain 20364138
nsv833899 CNV loss 17160897

Variation tolerance for HSPA12B Gene

Residual Variation Intolerance Score: 68.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.03; 68.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPA12B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPA12B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPA12B Gene

Disorders for HSPA12B Gene

Additional Disease Information for HSPA12B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HSPA12B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HSPA12B Gene

Publications for HSPA12B 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 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  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 44 58
  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 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for HSPA12B Gene

Sources for HSPA12B Gene

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