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ASPHD2 Gene

protein-coding   GIFtS: 49
GCID: GC22P026825

Aspartate Beta-Hydroxylase Domain Containing 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aspartate Beta-Hydroxylase Domain Containing 21 2
Aspartate Beta-Hydroxylase Domain-Containing Protein 22
EC 1.14.11.-3
EC 1.14.118

External Ids:    HGNC: 304371   Entrez Gene: 571682   Ensembl: ENSG000001282037   UniProtKB: Q6ICH73   

Export aliases for ASPHD2 gene to outside databases

Previous GC identifers: GC22P025150 GC22P009776


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ASPHD2 Gene:
ASPHD2 (aspartate beta-hydroxylase domain containing 2) is a protein-coding gene. GO annotations related to this gene include dioxygenase activity. An important paralog of this gene is ASPH.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASPHD2 gene promoter:
         STAT1   STAT4   STAT1beta   STAT1alpha   C/EBPalpha   GATA-1   HEN1   Ik-2   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASPHD2 promoter sequence
   Search Chromatin IP Primers for ASPHD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASPHD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.1   Ensembl cytogenetic band:  22q12.1   HGNC cytogenetic band: 22q12.1

ASPHD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASPHD2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P026825:  view genomic region     (about GC identifiers)

Start:
26,825,239 bp from pter      End:
26,840,981 bp from pter
Size:
15,743 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ASPH2_HUMAN, Q6ICH7 (See protein sequence)
Recommended Name: Aspartate beta-hydroxylase domain-containing protein 2  
Size: 369 amino acids; 41699 Da
Sequence caution: Sequence=AAH36753.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG37570.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RCH3 Q7L0W3 Q9NSN3

Explore the universe of human proteins at neXtProt for ASPHD2: NX_Q6ICH7

Explore proteomics data for ASPHD2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn211
  • Selected DME Specific Peptides for ASPHD2 (Q6ICH7) (see all 5)
     RCHLGLK  AERQALDF  EDGPRVVF  VDLWHPNVA 


    See ASPHD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065170.2  
    ENSEMBL proteins: 
     ENSP00000215906  

    ASPHD2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for ASPHD2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR007803 Asp_Arg_Pro-Hydrxlase
     IPR027443 IPNS-like

    Graphical View of Domain Structure for InterPro Entry Q6ICH7

    ProtoNet protein and cluster: Q6ICH7

    UniProtKB/Swiss-Prot: ASPH2_HUMAN, Q6ICH7
    Similarity: Belongs to the aspartyl/asparaginyl beta-hydroxylase family


    Find genes that share domains with ASPHD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Numbers (IUBMB): EC 1.14.11.-1 EC 1.14.112

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051213dioxygenase activity IEA--
         
    Find genes that share ontologies with ASPHD2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ASPHD2:
     Increased gamma-H2AX phosphory  Increased number of cells in m  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASPHD2
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    Selected qRT-PCR Assays for microRNAs that regulate ASPHD2 (see all 35):
    hsa-miR-4291 hsa-let-7d hsa-miR-300 hsa-miR-138-2* hsa-miR-449a hsa-miR-766 hsa-miR-29b-1* hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidASPHD2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ASPHD2
    Predesigned siRNA for gene silencing in human, mouse, rat ASPHD2

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    Sino Biological Human cDNA Clone for ASPHD2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPHD2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPHD2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ASPH2_HUMAN, Q6ICH7: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    golgi apparatus2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ASPHD2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASPHD2
    Interactions:

        Search GeneGlobe Interaction Network for ASPHD2

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0018193peptidyl-amino acid modification IEA--

    Find genes that share ontologies with ASPHD2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ASPHD2 (ASPH2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ASPHD2 gene: 
    NM_020437.4  

    Unigene Cluster for ASPHD2:

    Aspartate beta-hydroxylase domain containing 2
    Hs.567547  [show with all ESTs]
    Unigene Representative Sequence: NM_020437
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000215906(uc003acg.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ASPHD2 (see all 35):
    hsa-miR-4291 hsa-let-7d hsa-miR-300 hsa-miR-138-2* hsa-miR-449a hsa-miR-766 hsa-miR-29b-1* hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidASPHD2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ASPHD2
    Predesigned siRNA for gene silencing in human, mouse, rat ASPHD2
    Clone
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    GenScript: all cDNA clones in your preferred vector: ASPHD2 (NM_020437)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPHD2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ASPHD2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASPHD2
      QuantiTect SYBR Green Assays in human, mouse, rat ASPHD2
      QuantiFast Probe-based Assays in human, mouse, rat ASPHD2

    Additional mRNA sequence: 

    AK097157.1 AK124497.1 AK315112.1 AL161993.1 BC036753.1 CR456391.1 

    7 DOTS entries:

    DT.97840582  DT.312064  DT.99979799  DT.120666004  DT.100762576  DT.100735531  DT.97840583 

    Selected AceView cDNA sequences (see all 67):

    BE550881 BM932026 BQ720350 AA235336 AW070411 AI016711 AK097157 N73837 
    CR603469 AL161993 CR456391 R88233 AW135819 AA321783 BU742097 BM724783 
    NM_020437 BM717881 BC036753 BQ012066 AA871995 BM669615 BI764339 BF206214 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ASPHD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGGGGAAC
    ASPHD2 Expression
    About this image

    ASPHD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASPHD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567547
        Custom PCR Arrays for ASPHD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPHD2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ASPHD2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asphd21 , 5 aspartate beta-hydroxylase domain containing 21, 5 88.44(n)1
    94.17(a)1
      5 (54.70 cM)5
    728981  NM_028386.11  NP_082662.11 
     1123854485 
    chicken
    (Gallus gallus)
    Aves ASPHD21 aspartate beta-hydroxylase domain containing 2 84.06(n)
    88.05(a)
      425447  XM_423207.4  XP_423207.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.63402 Xenopus laevis transcribed sequence with moderate similarity more 77.47(n)    AW632960.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.171682 Transcribed sequence with weak similarity to protein more 75.39(n)    BM103374.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Asph6
    Aspartyl beta-hydroxylase
    10(a)
    1 → many
    2R(11997990-12004501)
    worm
    (Caenorhabditis elegans)
    Secernentea K09A9.66
    Protein K09A9.6, isoform b
    7(a)
    1 → many
    X(15577470-15586816) WBGene00010703


    ENSEMBL Gene Tree for ASPHD2 (if available)
    TreeFam Gene Tree for ASPHD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASPHD2 gene
    ASPH2  ASPHD12  
    1 SIMAP similar gene for ASPHD2 using alignment to 1 protein entry:     ASPH2_HUMAN:
    ASPHD1

    Find genes that share paralogs with ASPHD2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ASPHD2 (see all 498)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs121521621,2
    C--26823360(+) GTGGAG/AGTGAG 1 -- us2k15Minor allele frequency- A:0.00WA NA CSA 9
    rs1115101721,2
    C--26823386(+) GGGGTA/GGGTCC 1 -- us2k10--------
    rs558896121,2
    C--26823414(+) GGGTTC/TTGGCA 1 -- us2k10--------
    rs562167281,2
    C--26823493(+) ACAGGA/GTGGAG 1 -- us2k10--------
    rs561597531,2
    C--26823524(+) GGGGTA/GGGTCC 1 -- us2k10--------
    rs1160245411,2
    C,F--26823765(+) TGGAAG/CAGGGA 1 -- us2k11Minor allele frequency- C:0.12WA 118
    rs2001180241,2
    C--26823801(+) AGGTGC/GGTTCT 1 -- us2k10--------
    rs1824494071,2
    --26823814(+) AAGAGA/GGAGGA 1 -- us2k10--------
    rs713241381,2
    C,F--26823840(+) AGAGAG/CGAGGT 1 -- us2k13Minor allele frequency- C:0.12NA WA 240
    rs679131301,2
    C--26823871(+) GGTAGT/GTTCTG 1 -- us2k19Minor allele frequency- G:0.15WA NA CSA EA 369

    HapMap Linkage Disequilibrium report for ASPHD2 (26825239 - 26840981 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ASPHD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv999415CNV Loss20482838
    nsv7350OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASPHD2
    DNA2.0 Custom Variant and Variant Library Synthesis for ASPHD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with ASPHD2           About GenesLikeMe

    Genetic Association Database (GAD): ASPHD2
    Human Genome Epidemiology (HuGE) Navigator: ASPHD2 (1 document)

    Export disorders for ASPHD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ASPHD2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ASPHD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. A hypoxic niche regulates glioblastoma stem cells through hypoxia inducible factor 2 alpha. (PubMed id 20375133)9 Seidel S....Acker T. (Brain 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57168 HGNC: 30437 AceView: LOC57168 Ensembl:ENSG00000128203 euGenes: HUgn57168
    ECgene: ASPHD2 H-InvDB: ASPHD2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ASPHD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASPHD2 gene:
    Search GeneIP for patents involving ASPHD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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