Aliases for ASPH Gene
Aliases for ASPH Gene
External Ids for ASPH Gene
- HGNC: 757
- Entrez Gene: 444
- Ensembl: ENSG00000198363
- OMIM: 600582
- UniProtKB: Q12797
Previous GeneCards Identifiers for ASPH Gene
- GC08M061782
- GC08M062355
- GC08M062138
- GC08M062465
- GC08M062578
- GC08M057901
Summaries 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 In Situ Pulmonary Adenocarcinoma. Among its related pathways are Cardiac conduction and Ion channel transport. 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 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.
Additional gene information for ASPH Gene
- Monarch Initiative
- Search for ASPH at DataMed
- Search for ASPH at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPH Gene
Genomics for ASPH Gene
GeneHancer (GH) Regulatory Elements for ASPH Gene
Regulatory Element Products
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)
Genomic View for ASPH Gene
- Cytogenetic band:
-
- 8q12.3 by Ensembl
- 8q12.3 by Entrez Gene
- 8q12.3 by HGNC


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
- 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
Protein Expression for ASPH Gene
Post-translational modifications for ASPH Gene
- Glycosylation at Asn452, Asn706, and posLast=6464
Other Protein References for ASPH Gene
- ENSEMBL proteins:
-
- ENSP00000348841
- ENSP00000368762
- ENSP00000373856
- ENSP00000394013
- ENSP00000427823
- ENSP00000427877
- ENSP00000428060
- ENSP00000429160
- ENSP00000429286
- ENSP00000429718
- ENSP00000429743
- ENSP00000429954
- ENSP00000430245
- ENSP00000430516
- ENSP00000436188
- ENSP00000437864
- ENSP00000478706
- ENSP00000479830
- ENSP00000479945
- ENSP00000483443
- ENSP00000368767
- REFSEQ proteins:
-
- NP_001158222.1
- NP_001158223.1
- NP_001158224.1
- NP_001158225.1
- NP_001158226.1
- NP_001158227.1
- NP_001158228.1
- NP_004309.2
- NP_064549.1
- NP_115855.1
- NP_115856.1
- NP_115857.1
- XP_005251292.1
- XP_005251293.1
- XP_005251295.1
- XP_005251296.1
- XP_005251297.1
- XP_005251299.1
- XP_005251300.1
- XP_005251301.1
- XP_005251303.1
- XP_005251304.1
- XP_005251305.1
- XP_005251307.1
- XP_016868908.1
- XP_016868909.1
- XP_016868910.1
- XP_016868911.1
- XP_016868912.1
- XP_016868913.1
- XP_016868914.1
- XP_016868915.1
- XP_016868916.1
- XP_016868917.1
- XP_016868918.1
- XP_016868919.1
- XP_016868920.1
- XP_016868921.1
- XP_016868922.1
- XP_016868923.1
- XP_016868924.1
- XP_016868925.1
- XP_016868926.1
- XP_016868927.1
- XP_016868928.1
- XP_016868929.1
- XP_016868930.1
- XP_016868931.1
- XP_016868932.1
- XP_016868933.1
- XP_016868934.1
- XP_016868935.1
- XP_016868936.1
Antibody Products
- Novus Biologicals Antibodies for ASPH
-
Abcam antibodies for ASPH
-
Cloud-Clone Corp. Antibodies for ASPH
- Invitrogen Antibodies for ASPH
- GeneTex ASPH antibody for ASPH
-
Santa Cruz Biotechnology (SCBT) Antibodies for ASPH
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ASPH
- Origene Custom Protein Services for ASPH
- ProSpec Recombinant Proteins for ASPH
-
Cloud-Clone Corp. Proteins for ASPH
- Search GeneTex for Proteins for ASPH
-
Abcam proteins for ASPH
Assay Products
-
Cloud-Clone Corp. Assay Kits for ASPH
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
Protein Domains for ASPH Gene
Suggested Antigen Peptide Sequences for ASPH Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q12797- Family:
-
- Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
Function for ASPH Gene
Molecular function for ASPH Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Peptide L-aspartate + 2-oxoglutarate + O(2) = peptide 3-hydroxy-L-aspartate + succinate + CO(2).
- 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.
Enzyme Numbers (IUBMB) for ASPH Gene
Phenotypes From GWAS Catalog for ASPH Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004597 | peptide-aspartate beta-dioxygenase activity | IEA | -- |
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 |
Phenotypes for ASPH Gene
- MGI mutant phenotypes for ASPH:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ASPH:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased shRNA abundance
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASPH
-
- Search ViGene Biosciences for ASPH
CRISPR Products
-
OriGene CRISPR knockouts for ASPH
- genomics-online: gRNA clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
- Applied Biological Materials CRISPR for ASPH
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPH
- GenScript: Design CRISPR guide RNA sequences for ASPH
miRNA for ASPH Gene
- miRTarBase miRNAs that target ASPH
-
- hsa-mir-155-5p (MIRT020908)
- hsa-mir-215-5p (MIRT024363)
- hsa-mir-192-5p (MIRT026731)
- hsa-mir-16-5p (MIRT031802)
- hsa-mir-921 (MIRT403517)
- hsa-mir-1-3p (MIRT437918)
- hsa-mir-1225-5p (MIRT457127)
- hsa-mir-939-5p (MIRT457128)
- hsa-mir-1343-5p (MIRT457129)
- hsa-mir-6851-5p (MIRT457130)
- hsa-mir-3689d (MIRT457131)
- hsa-mir-4722-5p (MIRT457132)
- hsa-mir-6081 (MIRT457133)
- hsa-mir-7854-3p (MIRT457134)
- hsa-mir-8069 (MIRT457135)
- hsa-mir-4699-5p (MIRT457136)
- hsa-mir-4459 (MIRT457137)
- hsa-mir-6165 (MIRT457138)
- hsa-mir-4506 (MIRT457139)
- hsa-mir-4662b (MIRT457140)
- hsa-mir-4647 (MIRT457141)
- hsa-mir-4426 (MIRT457142)
- hsa-mir-6734-5p (MIRT483701)
- hsa-mir-4728-5p (MIRT483702)
- hsa-mir-6073 (MIRT483703)
- hsa-mir-3175 (MIRT483704)
- hsa-mir-8085 (MIRT483705)
- hsa-mir-6731-5p (MIRT483706)
- hsa-mir-6738-5p (MIRT483707)
- hsa-mir-5194 (MIRT483708)
- hsa-mir-423-5p (MIRT483709)
- hsa-mir-1914-3p (MIRT483710)
- hsa-mir-3184-5p (MIRT483711)
- hsa-mir-3174 (MIRT483712)
- hsa-mir-6755-5p (MIRT483713)
miRNA Products
- Search ViGene Biosciences for ASPH
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for ASPH
- Browse OriGene Inhibitory RNA Products For ASPH
- genomics-online: shRNA clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for ASPH
- RG223930
- RC223930L2
- RC223930L1
- RC223930
- RG224881
- RC224881L2
- RC224881L1
- RC224881
- RG211817
- RC211817L2
- RC211817L1
- RC211817
- RG224339
- RC224339L2
- RC224339L1
- RC224339
- RG216796
- RC216796L2
- RC216796L1
- RC216796
- RG228134
- RC228134L2
- RC228134L1
- RC228134
- RG228203
- RC228203L2
- RC228203L1
- RC228203
- RG228230
- RC228230L2
- RC228230L1
- RC228230
- RG228193
- RC228193L2
- RC228193L1
- RC228193
- RG228210
- RC228210L2
- RC228210L1
- RC228210
- RG228231
- RC228231L2
- RC228231L1
- RC228231
- RG228556
- RC228556L2
- RC228556L1
- RC228556
- RC223930L2V
- RC223930L1V
- RC224881L2V
- RC224881L1V
- RC211817L2V
- RC211817L1V
- RC224339L2V
- RC224339L1V
- RC216796L2V
- RC216796L1V
- RC228134L2V
- RC228134L1V
- RC228203L2V
- RC228203L1V
- RC228230L2V
- RC228230L1V
- RC228193L2V
- RC228193L1V
- RC228210L2V
- RC228210L1V
- RC228231L2V
- RC228231L1V
- RC228556L2V
- RC228556L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for ASPH in any vector
- NM_001164750.1
- XM_005251248.1
- NM_032466.3
- NM_004318.3
- XM_005251238.1
- XM_005251240.1
- NM_001164754.1
- XM_005251243.1
- NM_001164751.1
- XM_005251247.1
- NM_032468.4
- XM_005251250.2
- NM_001164753.1
- XM_005251236.1
- XM_011517532.1
- XM_005251242.2
- NM_001164755.1
- XM_005251246.2
- NM_020164.4
- XM_005251249.1
- NM_032467.3
- XM_005251235.1
- NM_001164756.1
- XM_005251239.1
- XM_005251241.1
- NM_001164752.1
- XM_005251244.1
- Sino Biological Human cDNA Clone for ASPH
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ASPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ASPH
- genomics-online: cdna clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
- orf clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
- Applied Biological Materials Clones for ASPH
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
- Endoplasmic reticulum (3)
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 | -- |
Pathways & Interactions for ASPH Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction |
.39
|
|
2 | Ion channel transport | ||
3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
Pathways by source for ASPH Gene
6 Reactome pathways for ASPH Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for ASPH Gene
Drugs & Compounds for ASPH Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
L-Aspartic acid | Approved | Nutra | Target | 0 | ||
Succinic acid | Approved | Nutra | Full agonist, Agonist, Target | 0 | ||
Warfarin | Approved | Pharma | 505 | |||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Oxygen | Approved, Vet_approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Fe2+ |
|
15438-31-0 |
|
|||
Oxoglutaric acid |
|
328-50-7 |
|
Transcripts for ASPH Gene
mRNA/cDNA for ASPH Gene
- (53) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (558) Selected AceView cDNA sequences:
- (30) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ASPH Gene
CRISPR Products
-
OriGene CRISPR knockouts for ASPH
- genomics-online: gRNA clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
- Applied Biological Materials CRISPR for ASPH
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPH
- GenScript: Design CRISPR guide RNA sequences for ASPH
miRNA Products
- Search ViGene Biosciences for ASPH
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for ASPH
- Browse OriGene Inhibitory RNA Products For ASPH
- genomics-online: shRNA clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for ASPH
- RG223930
- RC223930L2
- RC223930L1
- RC223930
- RG224881
- RC224881L2
- RC224881L1
- RC224881
- RG211817
- RC211817L2
- RC211817L1
- RC211817
- RG224339
- RC224339L2
- RC224339L1
- RC224339
- RG216796
- RC216796L2
- RC216796L1
- RC216796
- RG228134
- RC228134L2
- RC228134L1
- RC228134
- RG228203
- RC228203L2
- RC228203L1
- RC228203
- RG228230
- RC228230L2
- RC228230L1
- RC228230
- RG228193
- RC228193L2
- RC228193L1
- RC228193
- RG228210
- RC228210L2
- RC228210L1
- RC228210
- RG228231
- RC228231L2
- RC228231L1
- RC228231
- RG228556
- RC228556L2
- RC228556L1
- RC228556
- RC223930L2V
- RC223930L1V
- RC224881L2V
- RC224881L1V
- RC211817L2V
- RC211817L1V
- RC224339L2V
- RC224339L1V
- RC216796L2V
- RC216796L1V
- RC228134L2V
- RC228134L1V
- RC228203L2V
- RC228203L1V
- RC228230L2V
- RC228230L1V
- RC228193L2V
- RC228193L1V
- RC228210L2V
- RC228210L1V
- RC228231L2V
- RC228231L1V
- RC228556L2V
- RC228556L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for ASPH in any vector
- NM_001164750.1
- XM_005251248.1
- NM_032466.3
- NM_004318.3
- XM_005251238.1
- XM_005251240.1
- NM_001164754.1
- XM_005251243.1
- NM_001164751.1
- XM_005251247.1
- NM_032468.4
- XM_005251250.2
- NM_001164753.1
- XM_005251236.1
- XM_011517532.1
- XM_005251242.2
- NM_001164755.1
- XM_005251246.2
- NM_020164.4
- XM_005251249.1
- NM_032467.3
- XM_005251235.1
- NM_001164756.1
- XM_005251239.1
- XM_005251241.1
- NM_001164752.1
- XM_005251244.1
- Sino Biological Human cDNA Clone for ASPH
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ASPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ASPH
- genomics-online: cdna clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
- orf clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
- Applied Biological Materials Clones for ASPH
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||
SP5: | - |
Expression for ASPH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Eye (Sensory Organs)
- Adipose (Muscoskeletal System)
-
Skeletal Muscle (Muscoskeletal System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASPH Gene
NURSA nuclear receptor signaling pathways regulating expression of ASPH Gene:
ASPHSOURCE GeneReport for Unigene cluster for ASPH Gene:
Hs.332422mRNA Expression by UniProt/SwissProt for ASPH Gene:
Q12797-ASPH_HUMANEvidence on tissue expression from TISSUES for ASPH Gene
- Nervous system(4.9)
- Heart(4.6)
- Liver(4.6)
- Muscle(4.6)
- Kidney(3.8)
- Skin(3.5)
- Lung(3.4)
- Intestine(2.9)
- Pancreas(2.7)
- Adrenal gland(2.4)
- Stomach(2.3)
- Eye(2.2)
- Bone(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPH Gene
- ectoderm
- mesoderm
- integumentary
- nervous
- skeleton
- brain
- chin
- cranial nerve
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- skull
- tooth
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for ASPH
-
OriGene qPCR primer pairs and template standards for ASPH
- genomics-online: primer clones - Search results for 253 available Aspartate beta Hydroxylase gene related products
- Overview of 253 available Aspartate beta Hydroxylase gene related products
-
Recommended
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ASPH 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | ASPH 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Asph 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Asph 33 |
|
||
dog (Canis familiaris) |
Mammalia | ASPH 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | ASPH 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | ASPH 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ASPH 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | ASPH 34 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1434 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | ASPH 34 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | Asph 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | K09A9.6 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.621 34 |
|
OneToOne |
- Species where no ortholog for ASPH 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)
- 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 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)
Paralogs for ASPH Gene
Variants for ASPH Gene
SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs374385878 | pathogenic, Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs, Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552] | 61,503,433(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs879255574 | pathogenic, Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | 61,526,021(-) | AGGTT/CCC | coding_sequence_variant, frameshift, genic_downstream_transcript_variant | |
rs80163539 | uncertain-significance, not specified | 61,646,851(-) | T/ | coding_sequence_variant, frameshift, genic_downstream_transcript_variant, intron_variant | |
rs1000009920 | -- | 61,621,289(-) | T/C | genic_downstream_transcript_variant, intron_variant | |
rs1000020692 | -- | 61,578,180(-) | C/T | genic_downstream_transcript_variant, intron_variant |
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 |
Additional Variant Information for ASPH Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPH Gene
Disorders for ASPH Gene

(10) MalaCards diseases for ASPH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs |
|
|
in situ pulmonary adenocarcinoma |
|
|
catecholaminergic polymorphic ventricular tachycardia |
|
|
cholangiocarcinoma |
|
|
regular astigmatism |
|
|
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ASPH Gene
Publications for ASPH Gene
- cDNA cloning and characterization of human cardiac junctin. (PMID: 10974562) Lim KY … Kim DH (Gene 2000) 2 3 4 22 58
- Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. (PMID: 7821814) Korioth F … Frey J (Gene 1994) 2 3 4 22 58
- Molecular cloning of junctin from human and developing rabbit heart. (PMID: 10767180) Wetzel GT … Chen F (Molecular genetics and metabolism 2000) 3 4 22 58
- 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 22 58
- 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 22 58
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- Yeast expression
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Sources for ASPH Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew