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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HOGA1 Gene

protein-coding   GIFtS: 43
GCID: GC10P099355

4-hydroxy-2-oxoglutarate aldolase 1

(Previous names: chromosome 10 open reading frame 65, dihydrodipicolinate...)
(Previous symbols: C10orf65, DHDPSL)
 Explore 6 diseases affiliated with
HOGA1 via our new
 Human Malady Compendium 
Biological research products
for HOGA1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
4-Hydroxy-2-Oxoglutarate Aldolase 11 2     DHDPS-Like Protein2 3
DHDPSL1 2 3 5     HP32 5
C10orf651 2 3     FLJ374721
DHDPS21 2     Chromosome 10 Open Reading Frame 651
NPL21 2     Dihydrodipicolinate Synthetase Homolog 22
Dihydrodipicolinate Synthase-Like, Mitochondrial1 2     N-Acetylneuraminate Pyruvate Lyase 2 (Putative)2
Probable 2-Keto-4-Hydroxyglutarate Aldolase2 3     Probable 4-Hydroxy-2-Oxoglutarate Aldolase, Mitochondrial2
Probable KHG-Aldolase2 3     EC 4.1.3.163
Protein 5692722 3     Dihydrodipicolinate Synthase-Like3

External Ids:    HGNC: 251551   Entrez Gene: 1128172   Ensembl: ENSG000002419357   OMIM: 6135975   UniProtKB: Q86XE53   

Export aliases for HOGA1 gene to outside databases

Previous GC identifers: GC10P099348 GC10P099350 GC10P099352 GC10P099353 GC10P099354


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HOGA1:
The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary
hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial
dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps),
particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid
metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes
mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic
pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and
kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced
transcript variants encoding different isoforms have been noted for this gene. (provided by RefSeq, Nov 2010)

UniProtKB/Swiss-Prot: HOGA1_HUMAN, Q86XE5
Function: Catalyzes the final step in the metabolic pathway of hydroxyproline (Probable)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for HOGA1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HOGA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HOGA1


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

Entrez Gene cytogenetic band: 10q24.2   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q24.1

HOGA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOGA1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P099355:  view genomic region     (about GC identifiers)

Start:
99,344,080 bp from pter      End:
99,372,559 bp from pter
Size:
28,480 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HOGA1_HUMAN, Q86XE5 (See protein sequence)
Recommended Name: Probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial precursor  
Size: 327 amino acids; 35249 Da
Subunit: Homotetramer (By similarity)
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=CAC84901.1; Type=Erroneous gene model prediction; Sequence=CAI15457.1; Type=Erroneous gene
model prediction;
2 PDB 3D structures from and Proteopedia for HOGA1:
3S5N (3D)        3S5O (3D)    
Secondary accessions: A8K075 Q5T680 Q5T684 Q711P0 Q8N9F2 Q96EV5
Alternative splicing: 2 isoforms:  Q86XE5-1   Q86XE5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HOGA1: NX_Q86XE5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86XE5

  • HOGA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001128142.1  NP_612422.2  

    ENSEMBL proteins: 
     ENSP00000359681   ENSP00000359680   ENSP00000359676  

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    Uscn Proteins for HOGA1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--


    HOGA1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HOGA1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HOGA1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR020625 Dihydrodipicolinate_synth_AS
     IPR002220 Dihydrodipicolinate_synth-like

    Graphical View of Domain Structure for InterPro Entry Q86XE5

    ProtoNet protein and cluster: Q86XE5

    1 Blocks protein family: IPB002220 Dihydrodipicolinate synthetase

    UniProtKB/Swiss-Prot: HOGA1_HUMAN, Q86XE5
    Similarity: Belongs to the DapA family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HOGA1_HUMAN, Q86XE5
    Function: Catalyzes the final step in the metabolic pathway of hydroxyproline (Probable)
    Catalytic activity: 4-hydroxy-2-oxoglutarate = pyruvate + glyoxylate
    Enzyme regulation: Inhibited by divalent cations (By similarity)

    Enzyme Number (IUBMB): EC 4.1.3.161

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00087004-hydroxy-2-oxoglutarate aldolase activity ISS--
    GO:0042803protein homodimerization activity IDA--


    HOGA1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HOGA1

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009436glyoxylate catabolic process IMP--
    GO:00194704-hydroxyproline catabolic process IDA--
    GO:0033609oxalate metabolic process IMP--
    GO:0042866pyruvate biosynthetic process IDA--
    GO:0046487glyoxylate metabolic process IDA--


    HOGA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HOGA1
    Search CenterWatch for drugs/clinical trials and news about HOGA1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HOGA1 gene (2 alternative transcripts): 
    NM_001134670.1  NM_138413.3  

    Unigene Cluster for HOGA1:

    4-hydroxy-2-oxoglutarate aldolase 1
    Hs.180346  [show with all ESTs]
    Unigene Representative Sequence: NM_138413
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465608(uc001knx.2) ENST00000370647(uc001knz.3) ENST00000370646(uc001kny.3)
    ENST00000370642

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    hsa-miR-3934 hsa-miR-3673 hsa-miR-4254 hsa-miR-3116 hsa-miR-519e hsa-miR-515-3p hsa-miR-616
    SwitchGear 3'UTR luciferase reporter plasmidHOGA1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK289440.1 BC011916.2 BC045550.1 BC057821.1 

    4 DOTS entries:

    DT.95372143  DT.101980393  DT.99933316  DT.95151648 

    24/36 AceView cDNA sequences (see all 36):

    BM006098 BX097583 BX281317 BC011916 AK094791 BI764563 NM_138413 BC045550 
    R89840 BI252088 BP334104 BF569272 BI761505 BM005711 BG166577 CA430030 
    BE384660 BI763832 BI547728 BI549804 BI765630 BI759683 BC057821 AW779690 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HOGA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATCTCGCCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HOGA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HOGA1

    SOURCE GeneReport for Unigene cluster: Hs.180346
        SABiosciences Custom PCR Arrays for HOGA1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOGA1

    (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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for HOGA1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hoga11 , 5 4-hydroxy-2-oxoglutarate aldolase 11, 5 87.12(n)1
    89.41(a)1
      19 (35.67 cM)5
    674321  NM_026152.11  NP_080428.11 
     420456105 
    chicken
    (Gallus gallus)
    Aves HOGA11 4-hydroxy-2-oxoglutarate aldolase 1 73.33(n)
    72.33(a)
      770036  XM_001233351.2  XP_001233352.2 
    lizard
    (Anolis carolinensis)
    Reptilia HOGA16
    NPL6
    --
    55(a)
    22(a)
    1 ↔ 1
    possible ortholog
    3(39228706-39243011)
    GL343203.1(4673416-4693283)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.85652 Transcribed sequence with moderate similarity to protein more 73.84(n)    CF375968.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hoga11 4-hydroxy-2-oxoglutarate aldolase 1 67.11(n)
    70.13(a)
      405806  NM_212870.1  NP_998035.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    19(a)
    possible ortholog
    Group4.10(115694-117499)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yagE6
    yjhH6
    (see all 3)
    2-keto-3-deoxy gluconate (KDG) aldolase; CP4-6 pro...
    KpLE2 phage-like element; predicted lyase/synthase...
    (see all 3)
    25(a)
    24(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    Chromosome(281502-282410)
    Chromosome(4522128-4523033)


    ENSEMBL Gene Tree for HOGA1 (if available)
    TreeFam Gene Tree for HOGA1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HOGA1 gene
    NPL2  
    1 SIMAP similar gene for HOGA1 using alignment to 2 protein entries:     HOGA1_HUMAN (see all proteins):
    PI4K2A

    HOGA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/531 NCBI SNPs in HOGA1 are shown (see all 531    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1382072571,2
    Cpathogenic95242403(+) CCCAGG/TGCTGA 4 G V mis11Minor allele frequency- T:0.00NA 4552
    rs118168131,2
    C,F,H,--92973215(+) tagtgA/Cgaccc 2 -- int15Minor allele frequency- C:0.16NA WA 244
    rs1138869311,2
    C,F,--92974175(+) ATTTTG/TTGTGT 2 -- int12Minor allele frequency- T:0.50WA CSA 4
    rs773819491,2
    --92974730(+) TGAGAG/AGCCTT 2 -- int11Minor allele frequency- A:0.01NA 120
    rs49191151,2
    C,F,H,--92974884(+) ACCATC/ACCGGA 2 -- int116Minor allele frequency- A:0.04NS EA NA 1986
    rs1149258031,2
    C,F,--92974887(+) ATCCCG/AGAGTG 2 -- int11Minor allele frequency- A:0.02WA 118
    rs771714441,2
    F,--92975463(+) TCACAA/GTGGGG 2 -- int13Minor allele frequency- G:0.04WA NA EA 358
    rs115406931,2
    C,F,--92975587(+) CCAGCG/TTNNNN 2 -- int16Minor allele frequency- T:0.11NA EA 248
    rs744452731,2
    F,--92976969(+) GAAGAG/AGGGAG 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1116769161,2
    C,--92977850(+) GGGGTC/TTTGCC 2 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for HOGA1 (99344080 - 99372559 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HOGA1: --
    Human Gene Mutation Database (HGMD): HOGA1

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    HOGA1 for disorders           About GeneDecksing

    OMIM gene information: 613597   
    OMIM disorders: 613616  
    UniProtKB/Swiss-Prot: HOGA1_HUMAN, Q86XE5
  • Defects in HOGA1 are the cause of hyperoxaluria primary type 3 (HP3) [MIM:613616]; also known as primary
  • hyperoxaluria type III (PH3). HP3 is a disorder where the main clinical manifestation is calcium oxalate
    nephrolithiasis though chronic as well as terminal renal insufficiency has been described. It is characterized by an
    elevated urinary excretion of oxalate and L-glycerate

    6 diseases for HOGA1:    About MalaCards
    primary hyperoxaluria    urolithiasis    nephrolithiasis    pneumonia
    tuberculosis    mycobacterium tuberculosis


    Export disorders for HOGA1 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)
    About This Section

    PubMed articles for HOGA1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with HOGA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in DHDPSL are responsible for primary hyper oxaluria type III. (PubMed id 20797690)1, 2, 3 Belostotsky R....Frishberg Y. (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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    5. Purification, crystallization and preliminary crystall ographic analysis of human dihydrodipicolinate synthase-like protein (DHDPSL). (PubMed id 22232173)1 Bunker R.D....Baker E.N. (2012)
    6. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)1 Kettunen J....Ripatti S. (2012)
    7. The enzyme 4-hydroxy-2-oxoglutarate aldolase is defici ent in primary hyperoxaluria type 3. (PubMed id 22391140)1 Williams E.L....Rumsby G. (2012)
    8. Primary hyperoxaluria type III gene HOGA1 (formerly D HDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. (PubMed id 21896830)1 Monico C.G....Milliner D.S. (2011)
    9. Structural and biochemical studies of human 4-hydroxy -2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria. (PubMed id 21998747)1 Riedel T.J....Lowther W.T. (2011)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 112817 HGNC: 25155 AceView: C10orf65 Ensembl:ENSG00000241935 euGenes: HUgn112817
    ECgene: HOGA1 H-InvDB: HOGA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HOGA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HOGA1 gene:
    Search GeneIP for patents involving HOGA1

    GeneCards and IP:
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