This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) incl... See more...

Aliases for ASPH Gene

Aliases for ASPH Gene

  • Aspartate Beta-Hydroxylase 2 3 4 5
  • BAH 2 3 4
  • Aspartyl/Asparaginyl Beta-Hydroxylase 3 4
  • Peptide-Aspartate Beta-Dioxygenase 3 4
  • ASP Beta-Hydroxylase 3 4
  • Junctate 2 3
  • CASQ2BP1 2 3
  • Junctin 2 3
  • Humbug 2 3
  • HAAH 2 3
  • JCTN 2 3
  • Cardiac Junctin 3
  • EC 1.14.11.16 4
  • A Beta H-J-J 3
  • FDLAB 3
  • ASPH 5
  • AAH 3

External Ids for ASPH Gene

Previous GeneCards Identifiers for ASPH Gene

  • GC08M061782
  • GC08M062355
  • GC08M062138
  • GC08M062465
  • GC08M062578
  • GC08M057901

Summaries for ASPH Gene

Entrez Gene Summary for ASPH Gene

  • This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]

GeneCards Summary for ASPH Gene

ASPH (Aspartate Beta-Hydroxylase) is a Protein Coding gene. Diseases associated with ASPH include Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs and Catecholaminergic Polymorphic Ventricular Tachycardia. Among its related pathways are Cardiac muscle contraction and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel binding. An important paralog of this gene is ASPHD2.

UniProtKB/Swiss-Prot Summary for ASPH Gene

  • [Isoform 1]: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
  • [Isoform 8]: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.

Gene Wiki entry for ASPH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASPH Gene

Genomics for ASPH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASPH 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
GH08J061706 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 607.1 +3.0 2973 10.2 BRCA1 SP1 CREB1 GATAD2A CTCF HNRNPL ATF7 PRDM10 REST ZNF629 ASPH NPM1P6 KRT8P3 RN7SKP97 MIR4470 lnc-GGH-4 lnc-CLVS1-5 CLVS1
GH08J061687 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 612 +25.6 25585 3.5 PRDM10 IKZF1 JUND PRDM1 PKNOX1 SP1 ZNF24 DPF2 ZNF600 EP300 ASPH lnc-GGH-4 lnc-CLVS1-5 CLVS1
GH08J061684 Promoter/Enhancer 0.6 EPDnew dbSUPER 612.2 +30.5 30471 0.1 POLR2A ASPH lnc-CLVS1-5 lnc-GGH-4 CLVS1
GH08J061755 Enhancer 1.3 Ensembl ENCODE dbSUPER 18 -45.4 -45361 9.2 ZBTB33 ZNF629 LEF1 IKZF1 CTCF JUND FOXA1 PRDM1 MTA2 PHF21A lnc-CLVS1-7 ASPH NPM1P6 ENSG00000251127 piR-52438-111 NKAIN3
GH08J061765 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -52.9 -52860 4.2 CREB1 GATAD2A TFE3 LEF1 RCOR2 JUND FOXA1 RBFOX2 RXRB REST ENSG00000251127 LINC02842 ASPH lnc-CLVS1-2 NKAIN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ASPH gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • GATA-2
  • GR
  • GR-alpha
  • GR-beta
  • JunB

Genomic Locations for ASPH Gene

Genomic Locations for ASPH Gene
chr8:61,500,556-61,714,640
(GRCh38/hg38)
Size:
214,085 bases
Orientation:
Minus strand
chr8:62,413,115-62,627,199
(GRCh37/hg19)
Size:
214,085 bases
Orientation:
Minus strand

Genomic View for ASPH Gene

Genes around ASPH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ASPH Gene

Proteins for ASPH Gene

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

    Protein Symbol:
    Q12797-ASPH_HUMAN
    Recommended name:
    Aspartyl/asparaginyl beta-hydroxylase
    Protein Accession:
    Q12797
    Secondary Accessions:
    • A0A0A0MSK8
    • A6NDF4
    • A6NHI2
    • B4DIC9
    • B4E2K4
    • B7ZM95
    • E5RGP5
    • F5H667
    • Q6NXR7
    • Q8TB28
    • Q9H291
    • Q9H2C4
    • Q9NRI0
    • Q9NRI1
    • Q9Y4J0

    Protein attributes for ASPH Gene

    Size:
    758 amino acids
    Molecular mass:
    85863 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • Monomer (By similarity). Isoform 8 interacts with ORAI1 and STIM1. Isoform 4 interacts with CASQ2.

    Three dimensional structures from OCA and Proteopedia for ASPH Gene

    Alternative splice isoforms for ASPH Gene

neXtProt entry for ASPH Gene

Post-translational modifications for ASPH Gene

  • Glycosylation at Asn452 and Asn706
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for ASPH Gene

Domains & Families for ASPH Gene

Gene Families for ASPH Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ASPH Gene

GenScript: Design optimal peptide antigens:
  • Peptide-aspartate beta-dioxygenase (ASPH_HUMAN)
  • Aspartate beta-hydroxylase isoform f (B3GQE5_HUMAN)
  • cDNA FLJ59002, highly similar to Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 2, mRNA (B4DIC9_HUMAN)
  • ASPH protein (B7ZM96_HUMAN)
  • Aspartate beta-hydroxylase (B8Y0L3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12797

UniProtKB/Swiss-Prot:

ASPH_HUMAN :
  • Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
Family:
  • Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
genes like me logo Genes that share domains with ASPH: view

Function for ASPH Gene

Molecular function for ASPH Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
UniProtKB/Swiss-Prot Function:
[Isoform 8]: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-aspartyl-[protein] + O2 = 3-hydroxy-L-aspartyl-[protein] + CO2 + succinate; Xref=Rhea:RHEA:11508, Rhea:RHEA-COMP:9867, Rhea:RHEA-COMP:14951, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:17427, ChEBI:CHEBI:29961, ChEBI:CHEBI:30031; EC=1.14.11.16; Evidence={ECO:0000269|PubMed:11773073};.

Enzyme Numbers (IUBMB) for ASPH Gene

Phenotypes From GWAS Catalog for ASPH Gene

Gene Ontology (GO) - Molecular Function for ASPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004597 peptide-aspartate beta-dioxygenase activity IBA 21873635
GO:0005198 structural molecule activity TAS 11007777
GO:0005509 calcium ion binding TAS,NAS 11007777
GO:0005515 protein binding IPI 22586105
GO:0008307 structural constituent of muscle TAS 11007777
genes like me logo Genes that share ontologies with ASPH: view
genes like me logo Genes that share phenotypes with ASPH: view

Human Phenotype Ontology for ASPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASPH Gene

MGI Knock Outs for ASPH:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for ASPH

No data available for Transcription Factor Targets and HOMER Transcription for ASPH Gene

Localization for ASPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPH Gene

[Isoform 1]: Endoplasmic reticulum membrane. Single-pass type II membrane protein.
[Isoform 4]: Sarcoplasmic reticulum membrane. Single-pass type II membrane protein.
[Isoform 8]: Endoplasmic reticulum membrane. Single-pass type II membrane protein.

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 ASPH gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum TAS,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IDA 21062895
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ASPH: view

Pathways & Interactions for ASPH Gene

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

Pathways by source for ASPH Gene

Gene Ontology (GO) - Biological Process for ASPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10974562
GO:0007389 pattern specification process IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0018193 peptidyl-amino acid modification IEA --
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with ASPH: view

No data available for SIGNOR curated interactions for ASPH Gene

Drugs & Compounds for ASPH Gene

(9) Drugs for ASPH Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 182
Succinic acid Approved Nutra Agonist, Full agonist, Enzyme, product of 0
Warfarin Approved Pharma 609
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Iron Approved, Experimental Pharma 1560

(1) Additional Compounds for ASPH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ASPH: view

Transcripts for ASPH Gene

mRNA/cDNA for ASPH Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for ASPH

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

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

Relevant External Links for ASPH Gene

GeneLoc Exon Structure for
ASPH

Expression for ASPH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASPH Gene

This gene is overexpressed in Nasopharynx (16.3), Bone (10.5), and Adipocyte (6.5).

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



Protein tissue co-expression partners for ASPH Gene

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

SOURCE GeneReport for Unigene cluster for ASPH Gene:

Hs.332422

mRNA Expression by UniProt/SwissProt for ASPH Gene:

Q12797-ASPH_HUMAN
Tissue specificity: Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level).

Evidence on tissue expression from TISSUES for ASPH Gene

  • Nervous system(5)
  • Muscle(4.7)
  • Liver(4.6)
  • Heart(4.6)
  • Kidney(4.1)
  • Skin(4.1)
  • Intestine(3.6)
  • Lung(3.5)
  • Pancreas(3.3)
  • Eye(3)
  • Bone(3)
  • Adrenal gland(2.8)
  • Stomach(2.7)
  • Thyroid gland(2.5)
  • Blood(2.4)
  • Spleen(2.4)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ASPH: view

No data available for mRNA differential expression in normal tissues for ASPH Gene

Orthologs for ASPH Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASPH 30 31
  • 98.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASPH 30 31
  • 84.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Asph 30 17 31
  • 82.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asph 30
  • 82.55 (n)
Dog
(Canis familiaris)
Mammalia ASPH 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASPH 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASPH 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASPH 30 31
  • 70.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASPH 31
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1434 30
Zebrafish
(Danio rerio)
Actinopterygii ASPH 31
  • 73 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Asph 31
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K09A9.6 31
  • 16 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.621 31
  • 50 (a)
OneToOne
Species where no ortholog for ASPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ASPH Gene

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

Paralogs for ASPH Gene

Paralogs for ASPH Gene

genes like me logo Genes that share paralogs with ASPH: view

Variants for ASPH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASPH Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
710850 Benign: not provided 61,714,303(-) C/A SYNONYMOUS_VARIANT
713687 Benign: not provided 61,583,980(-) T/C SYNONYMOUS_VARIANT
715618 Benign: not provided 61,562,779(-) C/T MISSENSE_VARIANT
718344 Likely Benign: not provided 61,637,992(-) G/A MISSENSE_VARIANT
722114 Likely Benign: not provided 61,562,834(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ASPH Gene

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

Variant ID Type Subtype PubMed ID
esv1949409 CNV deletion 18987734
esv22699 CNV loss 19812545
esv2662959 CNV deletion 23128226
esv2761430 CNV loss 21179565
esv3572792 CNV loss 25503493
esv3572793 CNV loss 25503493
esv3617389 CNV gain 21293372
esv3617390 CNV gain 21293372
esv3617391 CNV loss 21293372
esv3617392 CNV loss 21293372
esv3617393 CNV gain 21293372
nsv1015216 CNV loss 25217958
nsv1029046 CNV gain 25217958
nsv473963 CNV novel sequence insertion 20440878
nsv521898 CNV gain 19592680
nsv967596 CNV duplication 23825009

Variation tolerance for ASPH Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPH Gene

Human Gene Mutation Database (HGMD)
ASPH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPH

SNP Genotyping and Copy Number Assay Products

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

Disorders for ASPH Gene

MalaCards: The human disease database

(11) MalaCards diseases for ASPH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ASPH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASPH_HUMAN
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552]: A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). {ECO:0000269 PubMed:24768550}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ASPH

genes like me logo Genes that share disorders with ASPH: view

No data available for Genatlas for ASPH Gene

Publications for ASPH Gene

  1. cDNA cloning and characterization of human cardiac junctin. (PMID: 10974562) Lim KY … Kim DH (Gene 2000) 2 3 4 23
  2. Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. (PMID: 7821814) Korioth F … Frey J (Gene 1994) 2 3 4 23
  3. Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin. (PMID: 10956665) Dinchuk JE … Friedman PA (The Journal of biological chemistry 2000) 3 4 23
  4. Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane. (PMID: 11007777) Treves S … Zorzato F (The Journal of biological chemistry 2000) 3 4 23
  5. Molecular cloning of junctin from human and developing rabbit heart. (PMID: 10767180) Wetzel GT … Chen F (Molecular genetics and metabolism 2000) 3 4 23

Products for ASPH Gene

  • Addgene plasmids for ASPH

Sources for ASPH Gene