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AHCYL2 Gene

protein-coding   GIFtS: 56
GCID: GC07P128865

Adenosylhomocysteinase-Like 2

(Previous name: S-adenosylhomocysteine hydrolase-like 2)
  See related diseases
at  

(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
Adenosylhomocysteinase-Like 21 2     Putative Adenosylhomocysteinase 32
S-Adenosylhomocysteine Hydrolase-Like 21 2     KIAA08283
S-Adenosyl-L-Homocysteine Hydrolase 32 3     AdoHcyase 33
EC 3.3.1.13 8     S-Adenosylhomocysteine Hydrolase-Like Protein 23
ADOHCYASE32     

External Ids:    HGNC: 222041   Entrez Gene: 233822   Ensembl: ENSG000001584677   UniProtKB: Q96HN23   

Export aliases for AHCYL2 gene to outside databases

Previous GC identifers: GC07P128653 GC07P123225


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AHCYL2 Gene:
The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of
S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jun 2011)

GeneCards Summary for AHCYL2 Gene:
AHCYL2 (adenosylhomocysteinase-like 2) is a protein-coding gene. Diseases associated with AHCYL2 include choroiditis, and tuberculosis. GO annotations related to this gene include adenosylhomocysteinase activity. An important paralog of this gene is AHCYL1.




(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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AHCYL2 gene promoter:
         RP58   RelA   AP-2gamma   AREB6   SRY   Cart-1   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AHCYL2 promoter sequence
   Search Chromatin IP Primers for AHCYL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AHCYL2


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

Entrez Gene cytogenetic band: 7q32.1   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q32.1

AHCYL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHCYL2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128865:  view genomic region     (about GC identifiers)

Start:
128,864,855 bp from pter      End:
129,070,052 bp from pter
Size:
205,198 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 128,248,814-128,454,023     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SAHH3_HUMAN, Q96HN2 (See protein sequence)
Recommended Name: Putative adenosylhomocysteinase 3  
Size: 611 amino acids; 66721 Da
Cofactor: Binds 1 NAD per subunit
Subunit: Homotetramer (Probable)
Sequence caution: Sequence=BAA74851.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for AHCYL2:
3GVP (3D)    
Secondary accessions: B4DIZ5 D9N155 O94917
Alternative splicing: 4 isoforms:  Q96HN2-1   Q96HN2-2   Q96HN2-3   Q96HN2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AHCYL2: NX_Q96HN2

Explore proteomics data for AHCYL2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AHCYL2 (Q96HN2) (see all 21)
     EIDPICA  QAKYLGL  QACMDGF  ACNIYST 


    See AHCYL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001124192.1  NP_001124194.2  NP_001124195.1  NP_056143.1  

    ENSEMBL proteins: 
     ENSP00000315931   ENSP00000413639   ENSP00000419717   ENSP00000420459   ENSP00000420801  
     ENSP00000419608   ENSP00000419346   ENSP00000431787   ENSP00000405267  

    AHCYL2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for AHCYL2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000043 Adenosylhomocysteinase
     IPR020082 S-Ado-L-homoCys_hydrolase_CS
     IPR015878 Ado_hCys_hydrolase_NAD-bd
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q96HN2

    ProtoNet protein and cluster: Q96HN2

    1 Blocks protein domain: IPB000043 S-adenosyl-L-homocysteine hydrolase

    UniProtKB/Swiss-Prot: SAHH3_HUMAN, Q96HN2
    Similarity: Belongs to the adenosylhomocysteinase family


    AHCYL2 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAHH3_HUMAN, Q96HN2
    Catalytic activity: S-adenosyl-L-homocysteine + H(2)O = L-homocysteine + adenosine

         Enzyme Number (IUBMB): EC 3.3.1.11 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004013adenosylhomocysteinase activity IEA--
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0048037cofactor binding ----
         
    AHCYL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Ahcyl2 (no phenotypes)

    AHCYL2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AHCYL2
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    miRNA
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    miRTarBase miRNAs that target AHCYL2:
    hsa-mir-92a-3p (MIRT049011), hsa-mir-185-5p (MIRT045346), hsa-mir-16-5p (MIRT031640)

    Block miRNA regulation of human, mouse, rat AHCYL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AHCYL2 (see all 59):
    hsa-miR-330-5p hsa-miR-15a hsa-miR-3653 hsa-miR-650 hsa-miR-449a hsa-miR-374c hsa-miR-424 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidAHCYL2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for AHCYL2
    Predesigned siRNA for gene silencing in human, mouse, rat AHCYL2

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHCYL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHCYL2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHCYL2


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    chloroplast2
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    (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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    SuperPaths for AHCYL2 About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One Carbon Metabolism0.53
    Methionine metabolism0.35
    Trans-sulfuration and one carbon metabolism0.43
    2Metabolism
    Metabolic pathways0.38
    3Sulfur amino acid metabolism
    Cysteine and methionine metabolism0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for AHCYL2
        Methionine metabolism

    2 BioSystems Pathways for AHCYL2
        One Carbon Metabolism
    Trans-sulfuration and one carbon metabolism


    2 Kegg Pathways  (Kegg details for AHCYL2):
        Cysteine and methionine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SAHH3_HUMAN, Q96HN2
    Pathway: Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step
    1/1


    AHCYL2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AHCYL2
    Interactions:

        Search GeneGlobe Interaction Network for AHCYL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AHCYL2 (Q96HN23 ENSP000003159314) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAP1Q925603, ENSP000004171324I2D: score=2 STRING: ENSP00000417132
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    WDR48Q8TAF33, ENSP000003074914I2D: score=2 STRING: ENSP00000307491
    MAP3K5Q996833I2D: score=2 
    JOSD2Q8TAC23I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IEA--
    GO:0055114oxidation-reduction process ----

    AHCYL2 for ontologies           About GeneDecksing



    (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 AHCYL2 (SAHH3)

    8 HMDB Compounds for AHCYL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)58-61-7--
    Homocysteine(+-)-homocysteine (see all 22)454-29-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Se-Adenosylselenohomocysteine ----
    SelenohomocysteineSe-selenocysteine (see all 3)29412-93-9--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AHCYL2 gene (4 alternative transcripts): 
    NM_001130720.2  NM_001130722.2  NM_001130723.2  NM_015328.3  

    Unigene Cluster for AHCYL2:

    Adenosylhomocysteinase-like 2
    Hs.600789  [show with all ESTs]
    Unigene Representative Sequence: NM_001130723
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325006(uc003vot.3 uc011kov.2) ENST00000446544(uc011kox.2)
    ENST00000461161 ENST00000460109 ENST00000474594 ENST00000490911 ENST00000466993
    ENST00000466924 ENST00000472554 ENST00000491079 ENST00000492628 ENST00000477028
    ENST00000531335 ENST00000446212(uc003vov.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat AHCYL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AHCYL2 (see all 59):
    hsa-miR-330-5p hsa-miR-15a hsa-miR-3653 hsa-miR-650 hsa-miR-449a hsa-miR-374c hsa-miR-424 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidAHCYL2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): AHCYL2 (NM_001130720)
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    Primer
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    OriGene qPCR primer pairs and template standards for AHCYL2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AHCYL2
      QuantiTect SYBR Green Assays in human, mouse, rat AHCYL2
      QuantiFast Probe-based Assays in human, mouse, rat AHCYL2

    Additional mRNA sequence: 

    AB020635.1 AK025372.1 AK172759.1 AK295851.1 AK316073.1 BC008349.1 BC024325.1 

    15 DOTS entries:

    DT.95271966  DT.100750040  DT.70105202  DT.100747382  DT.95271965  DT.40283412  DT.92442183  DT.102834191 
    DT.75114560  DT.75194541  DT.95113775  DT.100691386  DT.100713182  DT.40122588  DT.92442176 

    Selected AceView cDNA sequences (see all 158):

    BM708568 H99883 AI961915 AI167403 AB020635 BE765861 BE765910 CA394559 
    BE048933 BM475929 BC008349 BX104634 R37070 BM684363 N28569 BE766375 
    BE766371 AI473714 AA745811 NM_015328 BE765884 CB988319 AI459246 AI140407 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AHCYL2 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
    SP1:              -     -     -                 -                                                                                               -               
    SP2:                          -     -           -                                                                                               -               
    SP3:                                -           -                                                                                                               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21a · 21b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for AHCYL2

    (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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    AHCYL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCACATACT
    AHCYL2 Expression
    About this image


    AHCYL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Thalamus
     
     Neural Tube (Nervous System)
             Diencephalon
     
     Colon (Gastrointestinal Tract)
    AHCYL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AHCYL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.600789
        Custom PCR Arrays for AHCYL2
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    QuantiFast Probe-based Assays in human, mouse, rat AHCYL2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHCYL2

    (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 and fungi.

    Orthologs for AHCYL2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ahcyl21 , 5 S-adenosylhomocysteine hydrolase-like 21, 5 91.38(n)1
    97.87(a)1
      6 (12.36 cM)5
    743401  NM_021414.61  NP_067389.51 
     297680115 
    chicken
    (Gallus gallus)
    Aves AHCYL21 adenosylhomocysteinase-like 2 80.87(n)
    95.2(a)
      416675  XM_004937408.1  XP_004937465.1 
    lizard
    (Anolis carolinensis)
    Reptilia AHCYL26
    adenosylhomocysteinase-like 2
    97(a)
    1 ↔ 1
    GL343653.1(159732-191632)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ079574.12   -- 82.79(n)    BJ079574.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059517.12   -- 76.69(n)   394240  BC059517.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ahcy89E1 Adenosylhomocysteinase 89E 67.78(n)
    73.94(a)
      42043  NM_206500.2  NP_996222.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ahcy-16
    Protein AHCY-1 (ahcy-1) mRNA, complete cds
    51(a)
    1 → many
    I(6836390-6838142) WBGene00019322
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAH16
    S-adenosyl-L-homocysteine hydrolase, catabolizes S...
    48(a)
    1 → many
    V(235770-237119) YER043C


    ENSEMBL Gene Tree for AHCYL2 (if available)
    TreeFam Gene Tree for AHCYL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AHCYL2 gene
    AHCYL12  AHCY2  
    2 SIMAP similar genes for AHCYL2 using alignment to 6 protein entries:     SAHH3_HUMAN (see all proteins):
    AHCYL1    AHCY

    AHCYL2 for paralogs           About GeneDecksing



    (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 AHCYL2 (see all 3678)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs47315651,2
    C,F--128249089(+) GCCGCC/TGCTCT 4 A syn1 ese33Minor allele frequency- T:0.25NA 124
    rs339899091,2
    C--128250727(+) TGTAT-/ACTT  
            
    CGTTA
    2 -- int10--------
    rs580886471,2
    C--128251281(+) AAAAA-/A/AAAA
            
    GAGCC
    2 -- int11NA 2
    rs586530861,2
    C--128280352(+) CCCAC-/A/    
       AC
    /CC
    CCCCC
    2 -- int11NA 2
    rs27180831,2
    C,F,A,H--128280372(+) AATCTT/ATCTTG 2 -- int18Minor allele frequency- A:0.38NS EA NA WA 654
    rs106619401,2
    C--128291044(+) TGTGT-/ATGTGTGT/ATGT
    GTGTGT
    /GTGT/TGTG
    GTGTG
    2 -- int11NA 2
    rs353510671,2
    C--128300225(+) GAATA-/AAAAAA 2 -- int10--------
    rs357530231,2
    C--128301072(+) CTCTC-/G/TTTTTT 2 -- int10--------
    rs352533411,2
    C--128304762(+) CCTGGG/-TTCAA 2 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs2008556841,2
    C--128438231(+) TGTTTC/TTTTTT 4 -- int10--------

    HapMap Linkage Disequilibrium report for AHCYL2 (128864855 - 129070052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for AHCYL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735148CNV Deletion23290073
    esv268220CNV Insertion20981092
    esv273568CNV Insertion20981092
    esv2559463CNV Insertion19546169
    nsv525482CNV Loss19592680
    nsv516498CNV Gain19592680
    nsv831128CNV Gain17160897
    nsv831127CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AHCYL2
    DNA2.0 Custom Variant and Variant Library Synthesis for AHCYL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for AHCYL2:    
    About MalaCards
    choroiditis    tuberculosis    malaria


    AHCYL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AHCYL2

    Export disorders for AHCYL2 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 AHCYL2 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with AHCYL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. (PubMed id 22228203)1, 4 Aslibekyan S....Arnett D.K. (Pharmacogenet. Genomics 2012)
    2. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. (PubMed id 20694014)1, 4 Thye T....Hill A.V. (Nat. Genet. 2010)
    3. 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)
    4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    7. Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate. (PubMed id 22890011)1 Frazier-Wood A.C....Arnett D.K. (Pharmacogenet. Genomics 2012)
    8. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)
    9. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (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: 23382 HGNC: 22204 AceView: KIAA0828 Ensembl:ENSG00000158467 euGenes: HUgn23382
    ECgene: AHCYL2 Kegg: 23382 H-InvDB: AHCYL2

    (According to HUGE)
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    HUGE: KIAA0828

    (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 AHCYL2 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 AHCYL2 gene:
    Search GeneIP for patents involving AHCYL2

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



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