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HSD17B10 Gene

protein-coding   GIFtS: 66
GCID: GC0XM053475

Hydroxysteroid (17-Beta) Dehydrogenase 10

(Previous names: hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme...)
(Previous symbols: HADH2, MRXS10)
  See HSD17B10-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
Hydroxysteroid (17-Beta) Dehydrogenase 101 2     3-Hydroxyacyl-CoA Dehydrogenase Type-22
HADH21 2 3 5     ABAD2
MRXS101 2 5     CAMR2
ERAB2 3 5     HCD22
AB-Binding Alcohol Dehydrogenase1 2     MHBD2
Mitochondrial RNase P Subunit 21 2     SDR5C12
Endoplasmic Reticulum-Associated Amyloid Beta-Peptide-Binding Protein2 3     Amyloid-Beta Peptide Binding Alcohol Dehydrogenase2
Mitochondrial Ribonuclease P Protein 22 3     Short Chain Dehydrogenase/Reductase Family 5C, Member 12
3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase2 3     Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase Type 22
MRPP22 3     Short Chain Type Dehydrogenase/Reductase XH98G22
SCHAD2 3     17-Beta-HSD 103
DUPXp11.222 5     17-Beta-Hydroxysteroid Dehydrogenase 103
MRX172 5     3-Hydroxyacyl-CoA Dehydrogenase Type II3
MRX312 5     EC 1.1.1.1783
Hydroxyacyl-Coenzyme A Dehydrogenase, Type II, Hydroxyacyl-Coenzyme A
Dehydrogenase, Type II1
     EC 1.1.1.353
Member 11     EC 1.1.1.513
Mental Retardation, X-Linked, Syndromic 101     XH98G23
Short Chain Dehydrogenase/Reductase Family 5C1     Mitochondrial RNase P Protein 23
Type 10 17b-HSD1     Short-Chain Type Dehydrogenase/Reductase XH98G23
Type 10 17beta-Hydroxysteroid Dehydrogenase1     Type II HADH3
17b-HSD102     

External Ids:    HGNC: 48001   Entrez Gene: 30282   Ensembl: ENSG000000725067   OMIM: 3002565   UniProtKB: Q997143   

Export aliases for HSD17B10 gene to outside databases

Previous GC identifer: GC0XM050515


(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 HSD17B10 Gene:
This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase
superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty
acids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and
mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several
alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript
variants has been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for HSD17B10 Gene:
HSD17B10 (hydroxysteroid (17-beta) dehydrogenase 10) is a protein-coding gene. Diseases associated with HSD17B10 include hsd10 disease, atypical type, and mental retardation, x-linked 17/31, microduplication. GO annotations related to this gene include cholate 7-alpha-dehydrogenase activity and 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity. An important paralog of this gene is HPGD.

UniProtKB/Swiss-Prot: HCD2_HUMAN, Q99714
Function: Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of
MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. Catalyzes the
beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity
with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative
conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities
with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction
associated with Alzheimer disease (AD)

Gene Wiki entry for HSD17B10 Gene


(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_000023.10  NC_018934.2  NT_011630.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSD17B10 gene promoter:
         Elk-1   NF-1   NF-1/L   GATA-3   p53   Tal-1beta   GATA-2   GATA-1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD17B10 promoter sequence
   Search Chromatin IP Primers for HSD17B10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSD17B10


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

Entrez Gene cytogenetic band: Xp11.2   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.2

HSD17B10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B10 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM053475:  view genomic region     (about GC identifiers)

Start:
53,458,206 bp from pter      End:
53,461,323 bp from pter
Size:
3,118 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HCD2_HUMAN, Q99714 (See protein sequence)
Recommended Name: 3-hydroxyacyl-CoA dehydrogenase type-2  
Size: 261 amino acids; 26923 Da
Subunit: Homotetramer (By similarity). Interacts with MRPP1/TRMT10C and MRPP3/KIAA0391
4 PDB 3D structures from and Proteopedia for HSD17B10:
1F67 (3D)        1SO8 (3D)        1U7T (3D)        2O23 (3D)    
Secondary accessions: Q5H927 Q6IBS9 Q8TCV9 Q96HD5
Alternative splicing: 2 isoforms:  Q99714-1   Q99714-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HSD17B10: NX_Q99714

Explore proteomics data for HSD17B10 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys99
  • Modification sites at PhosphoSitePlus

  • See HSD17B10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001032900.1  NP_004484.1  

    ENSEMBL proteins: 
     ENSP00000364453   ENSP00000168216   ENSP00000364447  
    Reactome Protein details: Q99714

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC1: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q99714

    ProtoNet protein and cluster: Q99714

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: HCD2_HUMAN, Q99714
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Find genes that share domains with HSD17B10           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HCD2_HUMAN, Q99714
    Function: Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of
    MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. Catalyzes the
    beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity
    with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative
    conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities
    with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction
    associated with Alzheimer disease (AD)
    Catalytic activity: (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH
    Catalytic activity: (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methylacetoacetyl-CoA + NADH
    Catalytic activity: Testosterone + NAD(P)(+) = androst-4-ene-3,17-dione + NAD(P)H
    Biophysicochemical properties: Kinetic parameters: KM=25.7 uM for acetoacetyl-CoA (in the presence of 0.2 mM NADH,
    at pH 7.0 and 25 degrees Celsius); KM=85.2 uM for beta-hydroxybutyryl-CoA (in the presence of 1 mM NAD, at pH 9.3
    and 25 degrees Celsius); KM=41 uM for androsterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees
    Celsius); KM=5 uM for 5-alpha-pregnan-20-beta-ol-3-one (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees
    Celsius); KM=219 uM for isoursodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius);
    KM=36.4 uM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius); KM=1.7 uM
    for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius); KM=30.6 uM for NADH
    (in the presence of acetoacetyl-CoA, at pH 7.0 and 25 degrees Celsius); KM=42.3 uM for NAD (in the presence of
    beta-hydroxybutyryl-CoA, at pH 9.3 and 25 degrees Celsius); pH dependence: Optimum pH is 9.3 for the
    dehydrogenase reaction at 25 degrees Celsius, and 7.0 for the reductase reaction at 25 degrees Celsius;

         Enzyme Numbers (IUBMB): EC 1.1.1.1781 EC 1.1.1.511 EC 1.1.1.351

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity EXP--
    GO:0005515protein binding IPI18984158
    GO:0008709cholate 7-alpha-dehydrogenase activity TAS9338779
    GO:0016491oxidoreductase activity ----
    GO:0030283testosterone dehydrogenase [NAD(P)] activity IEA--
         
    Find genes that share ontologies with HSD17B10           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for HSD17B10:
     Cells with protrusions  Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HSD17B10

    miRNA
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    miRTarBase miRNAs that target HSD17B10:
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    Block miRNA regulation of human, mouse, rat HSD17B10 using miScript Target Protectors
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    (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
    HCD2_HUMAN, Q99714: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane4
    endoplasmic reticulum2
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9338779
    GO:0005739mitochondrion ISS--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005783endoplasmic reticulum IEA--

    Find genes that share ontologies with HSD17B10           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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    SuperPaths for HSD17B10 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    isoleucine degradation I0.00
    4Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    Metabolism of amino acids and derivatives
    5Tryptophan metabolism
    Tryptophan metabolism0.46


    Find genes that share SuperPaths with HSD17B10           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for HSD17B10
        isoleucine degradation I
    Alzheimers Disease
    fatty acid beta-oxidation I
    Tryptophan metabolism


    1 Reactome Pathway for HSD17B10
        Branched-chain amino acid catabolism


    3 Kegg Pathways  (Kegg details for HSD17B10):
        Valine, leucine and isoleucine degradation
    Metabolic pathways
    Alzheimer's disease

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HSD17B10: 
              Amino Acid Metabolism II in human mouse rat
              Alzheimer's Disease in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HSD17B10

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

    Selected Interacting proteins for HSD17B10 (Q997141, 2, 3 ENSP000001682164) via UniProtKB, MINT, STRING, and/or I2D (see all 319)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRMT10CQ7L0Y31, 2, 3, ENSP000003123564EBI-79964,EBI-2107046 MINT-8079030 I2D: score=3 STRING: ENSP00000312356
    APPP050671, 3, ENSP000002849814EBI-79964,EBI-77613 I2D: score=4 STRING: ENSP00000284981
    CHD3Q128732, 3, ENSP000003697164MINT-8258489 I2D: score=2 STRING: ENSP00000369716
    KIAA0391O150912, 3, ENSP000002503774MINT-8079030 I2D: score=1 STRING: ENSP00000250377
    FAF1Q9UNN52, 3MINT-8258500 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS9338779
    GO:0008033tRNA processing IEA--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    Find genes that share ontologies with HSD17B10           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 Tocris compounds for HSD17B10 (HCD2)

    Selected HMDB Compounds for HSD17B10 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (3S)-3-Hydroxyadipyl-CoA(3S)-3-Hydroxyadipyl-CoEnzyme A ----
    (S)-3-hydroxypalmitoleoyl-CoA(S)-3-hydroxyhexadeca-9Z-enoyl-CoA (see all 4)----
    16,18-Oxo-18-CoA-dinor-LTE4CoA-18-COOH-16-oxo-dinor-LTE(,4) (see all 2)----
    18,20-Dioxo-20-CoA-leukotriene B4CoA-20-COOH-18-oxo-LTB(,4) (see all 2)----
    2-Methylacetoacetyl-CoA2-Methyl-3-acetoacetyl-CoA (see all 10)6712-01-2--
    20-CoA-20-oxo-18R-hydroxyleucotriene B4CoA-20-COOH-18(R)-OH-LTB(,4) (see all 2)----
    3(S)-3-hydroxydodecen-(5Z)-oyl-CoA3(S)-hydroxy-5Z-dodecaenoyl-CoA (see all 4)----
    3-Oxohexadecanoyl-CoA3-Ketopalmitoyl-CoA (see all 14)34619-89-1--
    3-Oxooctanoyl-CoA3-oxooctanoyl-coenzyme A (see all 8)54684-64-9--
    Acetoacetyl-CoA3-acetoacetyl-CoA (see all 9)1420-36-6--

    3 DrugBank Compounds for HSD17B10    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct-- --target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for HSD17B10 gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-methyl-3-hydroxybutyryl-coa 98.4 15 12872843 (2), 16148061 (2), 12696021 (2), 18996107 (2) (see all 11)
    2-methyl-3-hydroxybutyrate 95.5 4 15902553 (2)
    tiglylglycine 94.1 3 15902553 (1)
    2-methylacetoacetate 89.9 3 15902553 (2)
    17beta-hydroxysteroid 77.9 5 15860413 (1), 20077426 (1), 16176262 (1), 15342248 (1) (see all 5)
    hydroxysteroid 77.4 4 12393239 (1), 9338779 (1)
    isoleucine 76 14 16148061 (2), 15059617 (2), 17618155 (1), 19706438 (1) (see all 12)
    5alpha-dihydroprogesterone 75 1 15804423 (1)
    allopregnanolone 66.1 2 15804423 (2)
    3alpha-hydroxysteroid 58.5 2 10760475 (1), 14672739 (1)



    Find genes that share compounds with HSD17B10           About GenesLikeMe



    (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 HSD17B10 gene (2 alternative transcripts): 
    NM_001037811.2  NM_004493.2  

    Unigene Cluster for HSD17B10:

    Hydroxysteroid (17-beta) dehydrogenase 10
    Hs.171280  [show with all ESTs]
    Unigene Representative Sequence: BQ940058
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477706 ENST00000375304 ENST00000168216(uc004dsl.1 uc004dsm.1)
    ENST00000375298 ENST00000495986
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    Additional mRNA sequence: 

    AF035555.1 AF069134.1 AY092415.1 BC000372.2 BC000829.1 BC008708.1 CR456723.1 U73514.1 
    U96132.1 

    9 DOTS entries:

    DT.446879  DT.91921240  DT.92448742  DT.121315340  DT.92448739  DT.121315330  DT.95152478  DT.99942148 
    DT.95152483 

    Selected AceView cDNA sequences (see all 353):

    BQ718217 BC000829 BX094111 AU132847 BU538598 U73514 BG829638 BC008708 
    BM807226 BM707654 BE747384 BC000372 BE314097 BM013935 BQ350006 BE394018 
    BM810512 BE312164 BI763211 CR603411 BU629630 CR615410 BF313796 BE727143 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B10 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for HSD17B10

    (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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    HSD17B10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACTGCCCA
    HSD17B10 Expression
    About this image


    HSD17B10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Eye (Sensory Organs)
             Lens
    HSD17B10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSD17B10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.171280

    UniProtKB/Swiss-Prot: HCD2_HUMAN, Q99714
    Tissue specificity: Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HSD17B10: 
              Amino Acid Metabolism II in human mouse rat
              Alzheimer's Disease in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (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 HSD17B10 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd17b101 , 5 hydroxysteroid (17-beta) dehydrogenase 101, 5 85.44(n)1
    87.74(a)1
      X (68.46 cM)5
    151081  NM_016763.21  NP_058043.31 
     1520018455 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    81(a)
    63(a)
    1 ↔ many
    1 ↔ many
    AADN03013989.1(21-1073)
    AADN03017029.1(21-1984)
    lizard
    (Anolis carolinensis)
    Reptilia HSD17B106
    hydroxysteroid (17-beta) dehydrogenase 10
    87(a)
    1 ↔ 1
    2(89290922-89294528)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.77102 Xenopus laevis transcribed sequence with moderate similarity more 75.55(n)    CA983122.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570778902   -- 77.31(n)    57077890 
    fruit fly
    (Drosophila melanogaster)
    Insecta scu1 scully 66.93(n)
    68.9(a)
      32789  NM_078672.4  NP_523396.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ard-11 ard-1 56.73(n)
    60.39(a)
      178016  NM_069682.6  NP_502083.1 


    ENSEMBL Gene Tree for HSD17B10 (if available)
    TreeFam Gene Tree for HSD17B10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HSD17B10 gene
    HPGD2  DCXR2  DECR22  CBR42  PECR2  HSD17B142  DHRS22  DHRS42  
    BDH22  DHRS4L22  HSD17B82  DECR12  
    3 SIMAP similar genes for HSD17B10 using alignment to 2 protein entries:     HCD2_HUMAN (see all proteins):
    CBR4    HSD17B8    HSD17B14

    Find genes that share paralogs with HSD17B10           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 HSD17B10 (see all 74)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289354751,2,,4
    C2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)4 pathogenic153473288(-) TGATCC/TGCCTG 4 R C mis10--------
    VAR_0320934
    2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)4--see VAR_0320932 N S mis40--------
    rs626263051,2
    Cpathogenic153472647(-) ATGGAC/GAGGTC 4 Q E mis10--------
    rs126884751,2
    C,H--53458686(+) CCCCTC/TTCAAC 2 -- int1 trp35Minor allele frequency- T:0.00NS EA NA 420
    rs1909133811,2
    C--53458927(+) CCCTGC/TCCACA 2 -- int10--------
    rs1829997061,2
    C--53458969(+) GTGTTA/GATGAT 4 I syn10--------
    rs1127569151,2
    C--53459067(+) CACCTC/GTAGGA 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs2016312031,2
    C--53459106(+) GCAGAA/GGAAGC 2 -- int10--------
    rs1870158511,2
    C--53459118(+) TTTGTA/CCCCTA 2 -- int10--------
    rs2013783701,2
    C--53459269(+) CACCGC/TGATGC 4 T A mis10--------

    HapMap Linkage Disequilibrium report for HSD17B10 (53458206 - 53461323 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HSD17B10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297
    nsv6908CNV Insertion18451855

    Human Gene Mutation Database (HGMD): HSD17B10
    Locus Specific Mutation Databases (LSDB): HSD17B10

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing HSD17B10:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing HSD17B10
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300256   
    OMIM disorders: 300438  300220  300705  
    UniProtKB/Swiss-Prot: HCD2_HUMAN, Q99714
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]: A disorder that
    leads to neurological abnormalities, including psychomotor retardation and, in virtually all patients, loss of
    mental and motor skills. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mental retardation, X-linked, syndromic, 10 (MRXS10) [MIM:300220]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive behavior and
    manifested during the developmental period. MRXS10 patients manifest mild mental retardation, choreoathetosis and
    abnormal behavior. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mental retardation, X-linked 17 (MRX17) [MIM:300705]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The gene represented in this entry is involved in disease pathogenesis. A
    chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation

  • 12 diseases for HSD17B10:    
    About MalaCards
    hsd10 disease, atypical type    mental retardation, x-linked 17/31, microduplication    hsd10 disease, neonatal type    17-beta-hydroxysteroid dehydrogenase x deficiency
    hsd10 disease, infantile type    2-methylbutyryl-coa dehydrogenase deficiency    beta-ketothiolase deficiency    ketothiolase deficiency
    3-hydroxyacyl-coa dehydrogenase deficiency    spastic diplegia    fatty acid oxidation disorders    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for HSD17B10:
    beta-ketothiolase deficiency     Intellectual disability

    Find genes that share disorders with HSD17B10           About GenesLikeMe

    8 Novoseek inferred disease relationships for HSD17B10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    beta-ketothiolase deficiency 79.6 3 15902553 (2), 15059617 (1)
    alzheimers disease 71.6 22 11798857 (2), 17253767 (2), 9553139 (2), 9338779 (2) (see all 15)
    hyperinsulinism 62.8 3 14641012 (1), 15870679 (1)
    ketoacidosis 46.7 1 15902553 (1)
    neurodegenerative diseases 34.2 1 17236142 (1)
    neurodegeneration 30.1 1 10781884 (1)
    mental retardation 29.8 4 17618155 (1), 19706438 (1), 16176262 (1), 17236142 (1)
    memory impairment 26.8 4 15087549 (1), 17168650 (1), 18387708 (1)

    Genetic Association Database (GAD): HSD17B10
    Human Genome Epidemiology (HuGE) Navigator: HSD17B10 (1 document)

    Export disorders for HSD17B10 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 HSD17B10 gene, integrated from 10 sources (see all 123):
    (articles sorted by number of sources associating them with HSD17B10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. (PubMed id 17236142)1, 2, 3, 9 Lenski C....Ramser J. (Am. J. Hum. Genet. 2007)
    2. An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease. (PubMed id 9338779)1, 2, 3, 9 Yan S.D.... Stern D. (Nature 1997)
    3. RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. (PubMed id 18984158)1, 2, 3 Holzmann J....Rossmanith W. (Cell 2008)
    4. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. (PubMed id 12696021)1, 2, 9 Ofman R....Wanders R.J.A. (Am. J. Hum. Genet. 2003)
    5. Comparative evolutionary genomics of the HADH2 gene encoding Abeta-binding alcohol dehydrogenase/17beta-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10). (PubMed id 16899120)1, 3, 9 Marques A.T....Ramos M.J. (BMC Genomics 2006)
    6. A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease. (PubMed id 9553139)1, 2, 9 He X.Y.... Yang S.Y. (J. Biol. Chem. 1998)
    7. ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease. (PubMed id 15087549)1, 2, 9 Lustbader J.W.... Wu H. (Science 2004)
    8. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X- linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. (PubMed id 16148061)1, 2, 9 Perez-Cerda C.... Ribes A. (Pediatr. Res. 2005)
    9. Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD. (PubMed id 12917011)1, 2, 9 Shafqat N....Oppermann U. (Biochem. J. 2003)
    10. Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics. (PubMed id 15342248)1, 2, 9 Kissinger C.R....Villafranca J.E. (J. Mol. Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3028 HGNC: 4800 AceView: HADH2 Ensembl:ENSG00000072506 euGenes: HUgn3028
    ECgene: HSD17B10 Kegg: 3028 H-InvDB: HSD17B10

    (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 HSD17B10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HSD17B10[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSD17B10 gene:
    Search GeneIP for patents involving HSD17B10

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



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