Gene Gene information from NCBI Gene database.
Entrez ID 116835
Gene name Heat shock protein family A (Hsp70) member 12B
Gene symbol HSPA12B
Synonyms (NCBI Gene)
C20orf60
Chromosome 20
Chromosome location 20p13
Summary 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
miRNA miRNA information provided by mirtarbase database.
71
miRTarBase ID miRNA Experiments Reference
MIRT616052 hsa-miR-6873-5p HITS-CLIP 23824327
MIRT616051 hsa-miR-4496 HITS-CLIP 23824327
MIRT616050 hsa-miR-9500 HITS-CLIP 23824327
MIRT616049 hsa-miR-33b-3p HITS-CLIP 23824327
MIRT616048 hsa-miR-515-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 33961781
GO:0005524 Function ATP binding IEA
GO:0043542 Process Endothelial cell migration IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610702 16193 ENSG00000132622
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MM6
Protein name Heat shock 70 kDa protein 12B (Heat shock protein family A member 12B)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highest expression in muscle and heart. Lower levels in liver and kidney. {ECO:0000269|PubMed:12552099}.
Sequence
MLAVPEMGLQGLYIGSSPERSPVPSPPGSPRTQESCGIAPLTPSQSPKPEVRAPQQASFS
VVVAIDFGTTSSGYAFSFASDPEAIHMMRKWEGGDPGVAHQKTPTCLLLTPEGAFHSFGY
TARDYYHDLDPEEARDWLYFEKFKMKIHSATDLTLKTQLEAVNGKTMPALEVFAHALRFF
REHALQELREQSPSLPEKDTVRWVLTVPAIWKQPAKQFMREAAYLAGLVSRENAEQLLIA
LEPEAASVYCRKLRLHQLLDLSGRAPGGGRLGERRSIDSSFRQAREQLRRSRHSRTFLVE
SGVGELWAEMQAGDRYVVADCGGGTVDLTVHQLEQPHGTLKELYKASGGPYGAVGVDLAF
EQLLCRIFGEDFIATFKRQRPAAWVDLTIAFEARKRTAGPHRAGALNISLPFSFIDFYRK
QRGHNVETALRRSSVNFVKWSSQGMLRMSCEAMNELFQPTVSGIIQHIEALLARPEVQGV
KLLFLVGGFAESAVLQHAVQAALGARGLRVVVPHDVGLTILKGAVLFGQAPGVVRVRRSP
LTYGVGVLNRFVPGRHPPEKLLVRDGRRWCTDVFERFVAAEQSVALGEEVRRSYCPARPG
QRRVLINLYCCAAEDARFITDPGVRKCGALSLELEPADCGQDTAGAPPGRREIRAAMQFG
DTEIKVTAVDVSTNRSVRASIDFLSN
Sequence length 686
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of HSF1-mediated heat shock response
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PULMONARY EDEMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 23331525
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 27387956 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29556279
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29954368 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25909170, 30195756
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29411514
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 37033211 Associate
★☆☆☆☆
Found in Text Mining only
Ischemic stroke Ischemic Stroke BEFREE 23046810, 29411514
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung Neoplasms BEFREE 25909170
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 25909170, 30195756
★☆☆☆☆
Found in Text Mining only