ASPH (aspartate beta-hydroxylase)

2003-02-01  

Identity

HGNC
LOCATION
8q12.3
LOCUSID
ALIAS
AAH,BAH,CASQ2BP1,FDLAB,HAAH,JCTN,junctin
FUSION GENES

Other Information

Locus ID:

NCBI: 444
MIM: 600582
HGNC: 757
Ensembl: ENSG00000198363

Variants:

dbSNP: 444
ClinVar: 444
TCGA: ENSG00000198363
COSMIC: ASPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198363ENST00000356457Q12797
ENSG00000198363ENST00000379449Q12797
ENSG00000198363ENST00000379454Q12797
ENSG00000198363ENST00000389204Q12797
ENSG00000198363ENST00000445642Q12797
ENSG00000198363ENST00000517661G3XAN5
ENSG00000198363ENST00000517847Q12797
ENSG00000198363ENST00000517856E5RHJ2
ENSG00000198363ENST00000517903Q12797
ENSG00000198363ENST00000518068Q12797
ENSG00000198363ENST00000518306E5RG29
ENSG00000198363ENST00000519234E5RG56
ENSG00000198363ENST00000519264A0A087WW05
ENSG00000198363ENST00000519678A0A087X0J4
ENSG00000198363ENST00000522349E5RHK2
ENSG00000198363ENST00000522603Q12797
ENSG00000198363ENST00000522835Q12797
ENSG00000198363ENST00000522919E5RJL3
ENSG00000198363ENST00000523927A0A087WUJ2
ENSG00000198363ENST00000524173A0A087WW51
ENSG00000198363ENST00000541428Q12797

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451906warfarinChemicalClinicalAnnotationassociatedPD27488176

References

Pubmed IDYearTitleCitations
161545312005Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases.74
165641072006Aspartyl-(asparaginyl)-beta-hydroxylase regulates hepatocellular carcinoma invasiveness.40
225861052012Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1).39
153028522004Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion.38
127138722003Antisense oligodeoxynucleotides directed against aspartyl (asparaginyl) beta-hydroxylase suppress migration of cholangiocarcinoma cells.32
121180902002Role of the aspartyl-asparaginyl-beta-hydroxylase gene in neuroblastoma cell motility.30
171564272006Differential growth factor regulation of aspartyl-(asparaginyl)-beta-hydroxylase family genes in SH-Sy5y human neuroblastoma cells.26
192005762009Prognostic value of aspartyl (asparaginyl)-beta-hydroxylase/humbug expression in non-small cell lung carcinoma.18
247685502014Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.18
170207792007Prognostic value of humbug gene overexpression in stage II colon cancer.16

Citation

Dessen P

ASPH (aspartate beta-hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/716/asph