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

HSD17B10 Gene

protein-coding   GIFtS: 64
GCID: GC0XM053475

hydroxysteroid (17-beta) dehydrogenase 10

(Previous names: hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme...)
(Previous symbols: HADH2, MRXS10)
 Explore 31 diseases affiliated with
HSD17B10 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HSD17B10    

Aliases
for HSD17B10 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hydroxysteroid (17-Beta) Dehydrogenase 101 2     Mental Retardation, X-Linked, Syndromic 101
ERAB1 2 3 5     3-Hydroxyacyl-CoA Dehydrogenase Type-22
HADH21 2 3 5     HCD22
MRPP21 2 3     AB-Binding Alcohol Dehydrogenase2
MRXS101 2 5     Amyloid-Beta Peptide Binding Alcohol Dehydrogenase2
17b-HSD101 2     Mitochondrial RNase P Subunit 22
ABAD1 2     Short Chain Dehydrogenase/Reductase Family 5C, Member 12
CAMR1 2     Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase Type 22
MHBD1 2     Short Chain Type Dehydrogenase/Reductase XH98G22
SDR5C11 2     17-Beta-HSD 103
Endoplasmic Reticulum-Associated Amyloid Beta-Peptide-Binding Protein2 3     17-Beta-Hydroxysteroid Dehydrogenase 103
Mitochondrial Ribonuclease P Protein 22 3     3-Hydroxyacyl-CoA Dehydrogenase Type II3
3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase2 3     EC 1.1.1.1783
SCHAD2 3     EC 1.1.1.353
DUPXp11.222 5     XH98G23
MRX172 5     Mitochondrial RNase P Protein 23
MRX312 5     Short-Chain Type Dehydrogenase/Reductase XH98G23
Hydroxyacyl-Coenzyme A Dehydrogenase, Type II, Hydroxyacyl-Coenzyme A
Dehydrogenase, Type II1
     Type II HADH3

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


Summaries
for HSD17B10 gene

(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 HSD17B10:
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)

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. By interacting with
intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD)

Gene Wiki entry for HSD17B10


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011630.14  
Regulatory elements:
   SABiosciences 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 plasmid: HSD17B10 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD17B10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for HSD17B10 gene

(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: 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
Subcellular location: Mitochondrion
4 PDB 3D structures from and Proteopedia for HSD17B10:
1F67 (3D)        1SO8 (3D)        1U7T (3D)        2O23 (3D)    
Secondary accessions: Q5H927 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99714

    • HSD17B10 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000168216   ENSP00000364453   ENSP00000364447  
    Reactome Protein details: Q99714
    Human Recombinant Protein Products: 
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    Novus Biologicals HSD17B10 Proteins
    Novus Biologicals HSD17B10 Lysates
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    ProSpec Recombinant Protein for HSD17B10
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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--


    HSD17B10 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for HSD17B10 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HSD17B10 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for HSD17B10 gene

    (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: 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. 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

    Enzyme Numbers (IUBMB): EC 1.1.1.1781 EC 1.1.1.351

    miRNA
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    hsa-miR-3622a-5p
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    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HSD17B10 (see all 4)
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    In Situ Assay
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    Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0001540beta-amyloid binding ----
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity EXP--
    GO:0004303estradiol 17-beta-dehydrogenase activity ----
    GO:0005496steroid binding ----


    HSD17B10 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for HSD17B10 gene

    (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

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    		Branched-chain amino acid catabolism1.00
    		Valine, leucine and isoleucine degradation0.39
    		isoleucine degradation I0.41
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Alzheimer's disease0.43
    		Alzheimers Disease0.00
    4Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    5Tryptophan metabolism
    		Tryptophan metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for HSD17B10
        Metabolism
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism


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


    HSD17B10 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD17B10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/271 Interacting proteins for HSD17B10 (Q997141, 2, 3 ENSP000001682164) via UniProtKB, MINT, STRING, and/or I2D (see all 271)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRMT10CQ7L0Y31, 2, 3, ENSP000003123564EBI-79964,EBI-2107046 MINT-8079030 I2D: score=3 STRING: ENSP00000312356
    ENSG00000100890O150912, 3, ENSP000002503774MINT-8079030 I2D: score=1 STRING: ENSP00000250377
    APPP050671, 3, ENSP000002849814EBI-79964,EBI-77613 I2D: score=4 STRING: ENSP00000284981
    UBE2D1P516682, 3, ENSP000003630194MINT-8258511 I2D: score=2 STRING: ENSP00000363019
    KIAA0391O150912, 3MINT-8079030 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS9338779
    GO:0007569cell aging ----
    GO:0008033tRNA processing IEA--
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0033327Leydig cell differentiation ----


    HSD17B10 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HSD17B10 gene

    (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

    HSD17B10 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HSD17B10

    10/14 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

    10/20 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about HSD17B10 / HCD2 

    Transcripts
    for HSD17B10 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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:
    ENST00000168216(uc004dsl.1 uc004dsm.1) ENST00000375304 ENST00000477706
    ENST00000375298 ENST00000495986

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    Clone
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    Primer
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    Additional cDNA 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 

    24/353 AceView cDNA sequences (see all 353):

    BC000372 CB142053 BG179544 BQ772321 BG519532 U73514 CF126959 BI763211 
    BE747384 CB149519 BM980088 BQ071225 BE562954 BE382662 BG829638 BX094111 
    BC008708 BQ350006 AA972514 BE392641 BQ673703 BQ674880 BM701338 BM807226 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for HSD17B10 gene

    (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

    HSD17B10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACACTGCCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See HSD17B10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD17B10

    SOURCE GeneReport for Unigene cluster: Hs.171280

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including HSD17B10: 
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              Alzheimer's Disease in human mouse rat
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    Primer
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    In Situ
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    Orthologs
    for HSD17B10 gene

    (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 HSD17B10 gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HSD17B101 hydroxysteroid (17-beta) dehydrogenase 10 67.78(n)
    71.9(a)    		   425758  XM_423479.3  XP_423479.3 
    lizard
    (Anolis carolinensis)    		 Reptilia HSD17B106
    		 --
    		 87(a)
    		 1 ↔ 1
    		 2(89291462-89292710)
    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 Protein ARD-1 56.73(n)
    60.39(a)    		   178016  NM_069682.5  NP_502083.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G471306
    AT2G471206
    (see all 11)    		 Rossmann-fold NAD(P)-binding domain-containing pro...
    Rossmann-fold NAD(P)-binding domain-containing pro...
    (see all 11)    		 27(a)
    27(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 2(19349536-19350539)
    2(19347359-19348238)
    rice
    (Oryza sativa)    		 Liliopsida MAS16
    --
    (see all 23)    		 sex determination protein tasselseed-2, putative, ...
    sex determination protein tasselseed-2, putative, ...
    (see all 23)    		 30(a)
    30(a)
    (see all 23)    		 possible ortholog
    possible ortholog
    (see all 23)    		 4(5381163-5382656)
    4(19937611-19938778)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria hcaB6
    		 2,3-dihydroxy-2,3-dihydrophenylpropionate dehydrog...
    		 22(a)
    		 1 ↔ 1
    		 Chromosome(2669247-2670059)


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

    Paralogs
    for HSD17B10 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD17B10 gene
    HPGD2  CBR42  HSD17B82  DHRS112  
    4 SIMAP similar genes for HSD17B10 using alignment to 2 protein entries:     HCD2_HUMAN (see all proteins):
    HADH2    CBR4    HSD17B8    HSD17B14

    HSD17B10 for paralogs           About GeneDecksing



    Genomic Variants
    for HSD17B10 gene

    (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

    10/56 NCBI SNPs in HSD17B10 are shown (see all 56)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs626263051,2
    		Cpathogenic53458393(-) ATGGAC/GAGGTC 5 Q E mis1 int10--------
    rs289354751,2
    		Cpathogenic53459034(-) TGATCC/TGCCTG 4 R C mis12Minor allele frequency- T:0.00NA 4
    rs1505457441,2
    		--53457786(+) GGAGAC/GGAGGG 4 -- ut31 ds5001 int10--------
    rs1829810601,2
    		--53458171(+) TTCCCC/TATGCC 4 -- ds5001 int10--------
    rs1876421671,2
    		--53458450(+) AGCAGA/GGTCAC 5 P S mis1 int10--------
    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
    rs1870158511,2
    		C,--53459118(+) TTTGTA/CCCCTA 2 -- int10--------

    HapMap Linkage Disequilibrium report for HSD17B10 (53458206 - 53461323 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for HSD17B10
         2 CNVs: 23256 96696
    Human Gene Mutation Database (HGMD): HSD17B10

    Locus Specific Mutation Databases (LSDB): HSD17B10

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing HSD17B10:
    Intellectual Disability
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSD17B10
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B10

    Disorders / Diseases
    for HSD17B10 gene

    (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.)
    About This Section
    HSD17B10 for disorders           About GeneDecksing

    OMIM gene information: 300256   
    OMIM disorders: 300438  300220  300705  
    UniProtKB/Swiss-Prot: HCD2_HUMAN, Q99714
  • Defects in HSD17B10 are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)
    • [MIM:300438]. MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in
    virtually all patients, loss of mental and motor skills
  • Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10) [MIM:300220].
    • MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior
  • A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type
    • 17 (MRX17) [MIM:300705]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is
    characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative
    behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental
    retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual
    deficiency is the only primary symptom of non-syndromic X-linked mental retardation

    20/31 diseases for HSD17B10 (see all 31):    About MalaCards
    mental retardation, x-linked    mental retardation, x-linked 17/31, microduplication    mental retardation, x-linked syndromic    17-beta-hydroxysteroid dehydrogenase x deficiency
    2-methylbutyryl-coa dehydrogenase deficiency    3-hydroxyacyl-coa dehydrogenase deficiency    beta-ketothiolase deficiency    alcoholism
    alzheimer's disease    fatty acid oxidation disorders    ketothiolase deficiency    spastic diplegia
    x inactivation    polycystic ovary syndrome    choreoathetosis    hyperinsulinism
    intellectual disability    neurodegenerative disease    spasticity    hypospadias

    3 diseases from the University of Copenhagen DISEASES database for HSD17B10:
    beta-ketothiolase deficiency     Intellectual disability     Alzheimer's disease

    8 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: HSD17B10 (1 document)

    Export disorders for HSD17B10 gene to outside databases

    Publications
    for HSD17B10 gene

    (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 HSD17B10 gene, integrated from 9 sources (see all 116):
    (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. (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. (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. (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. (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. (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. (1998)
    7. ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease. (PubMed id 15087549)1, 2, 9 Lustbader J.W.... Wu H. (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. (2005)
    9. 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. (2004)
    10. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)

    External Searches for HSD17B10 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HSD17B10 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3028 HGNC: 4800 AceView: HADH2 Ensembl:ENSG00000072506 euGenes: HUgn3028
    ECgene: HSD17B10 Kegg: 3028 H-InvDB: HSD17B10

    Other Databases showing HSD17B10 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HSD17B10 gene

    (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 HSD17B10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD17B10

    Intellectual Property
    for HSD17B10 gene

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

    GeneCards and IP:
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