Description: Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA. RefSeq Summary (NM_052970): 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]. Transcript (Including UTRs) Position: hg19 chr20:3,713,317-3,733,758 Size: 20,442 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chr20:3,719,322-3,732,813 Size: 13,492 Coding Exon Count: 12
ID:HS12B_HUMAN DESCRIPTION: RecName: Full=Heat shock 70 kDa protein 12B; TISSUE SPECIFICITY: Highest expression in muscle and heart. Lower levels in liver and kidney. SIMILARITY: Belongs to the heat shock protein 70 family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HSPA12B CDC HuGE Published Literature: HSPA12B Positive Disease Associations: Cardiovascular Diseases Related Studies:
Cardiovascular Diseases Martin G Larson et al. BMC medical genetics 2007, Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes., BMC medical genetics.
[PubMed 17903304]
No association attained genome-wide significance, but several intriguing findings emerged. Notably, we replicated associations of chromosome 9p21 with major CVD. Additional studies are needed to validate these results. Finding genetic variants associated with CVD may point to novel disease pathways and identify potential targeted preventive therapies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96MM6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK297120 - Homo sapiens cDNA FLJ55280 complete cds, highly similar to Heat shock 70 kDa protein 12B. AK301294 - Homo sapiens cDNA FLJ50253 complete cds, highly similar to Heat shock 70 kDa protein 12B. BC090857 - Homo sapiens heat shock 70kD protein 12B, mRNA (cDNA clone IMAGE:6178335), partial cds. BC110881 - Homo sapiens heat shock 70kD protein 12B, mRNA (cDNA clone MGC:131912 IMAGE:5725594), complete cds. AK056712 - Homo sapiens cDNA FLJ32150 fis, clone PLACE5000170. JD211320 - Sequence 192344 from Patent EP1572962. BC117284 - Homo sapiens heat shock 70kD protein 12B, mRNA (cDNA clone MGC:150893 IMAGE:40125835), complete cds. BC126263 - Homo sapiens heat shock 70kD protein 12B, mRNA (cDNA clone MGC:161541 IMAGE:8991979), complete cds. BC143932 - Homo sapiens heat shock 70kD protein 12B, mRNA (cDNA clone MGC:177467 IMAGE:9052450), complete cds. KJ900041 - Synthetic construct Homo sapiens clone ccsbBroadEn_09435 HSPA12B gene, encodes complete protein. JD307411 - Sequence 288435 from Patent EP1572962. JD461733 - Sequence 442757 from Patent EP1572962. JD195644 - Sequence 176668 from Patent EP1572962. JD403737 - Sequence 384761 from Patent EP1572962. JD126931 - Sequence 107955 from Patent EP1572962. JD175481 - Sequence 156505 from Patent EP1572962. JD235962 - Sequence 216986 from Patent EP1572962. JD242230 - Sequence 223254 from Patent EP1572962. JD205826 - Sequence 186850 from Patent EP1572962. JD069240 - Sequence 50264 from Patent EP1572962. JD404725 - Sequence 385749 from Patent EP1572962. JD203407 - Sequence 184431 from Patent EP1572962. JD343652 - Sequence 324676 from Patent EP1572962. JD381852 - Sequence 362876 from Patent EP1572962. JD222681 - Sequence 203705 from Patent EP1572962. JD445467 - Sequence 426491 from Patent EP1572962. JD459959 - Sequence 440983 from Patent EP1572962. JD116324 - Sequence 97348 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q96MM6 (Reactome details) participates in the following event(s):
R-HSA-5251955 HSP40s activate intrinsic ATPase activity of HSP70s in the nucleoplasm R-HSA-5251942 Hikeshi binds HSP70s:ATP R-HSA-5251959 HSP40s activate intrinsic ATPase activity of HSP70s in the cytosol R-HSA-5252079 HSP110s exchange ATP for ADP on HSP70s:ADP R-HSA-5252041 NPC transports Hikeshi:HSP70s:ATP from cytosol to nucleoplasm R-HSA-3371453 Regulation of HSF1-mediated heat shock response R-HSA-3371556 Cellular response to heat stress R-HSA-2262752 Cellular responses to stress R-HSA-8953897 Cellular responses to external stimuli
US Server
