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

BTD Gene

protein-coding   GIFtS: 62
GCID: GC03P015621

biotinidase
 Explore 65 diseases affiliated with
BTD via
MalaCards
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 Human Malady Compendium 
Biological research products
for BTD    

Aliases
for BTD gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Biotinidase1
EC 3.5.1.123 8
Biotinase3
Biotinase3
EC 3.5.18

External Ids:    HGNC: 11221   Entrez Gene: 6862   Ensembl: ENSG000001698147   OMIM: 6090195   UniProtKB: P432513   

Export aliases for BTD gene to outside databases

Previous GC identifers: GC03P015572 GC03P015619 GC03P015620


Summaries
for BTD 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 BTD:
Biotinidase functions to recycle biotin in the body by cleaving biocytin (biotin-epsilon-lysine), a normal product of
carboxylase degradation, resulting in regeneration of free biotin. Biotinidase has also been shown to have
biotinyl-transferase activity. Defects in the biotinidase gene cause multiple carboxylase deficiency. (provided by
RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BTD_HUMAN, P43251
Function: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation




Genomic Views
for BTD 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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTD gene promoter:
         Nkx3-1   GR   Nkx3-1 v4   Sp1   GR-beta   Nkx3-1 v1   GATA-1   Nkx3-1 v2   Nkx3-1 v3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BTD promoter sequence
   Search SABiosciences Chromatin IP Primers for BTD

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


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

Entrez Gene cytogenetic band: 3p25   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P015621:  view genomic region     (about GC identifiers)

Start:
 15,642,848 bp from pter      End:
 15,687,329 bp from pter
Size:
 44,482 bases      Orientation:
 plus strand

Proteins
for BTD 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: BTD_HUMAN, P43251 (See protein sequence)
Recommended Name: Biotinidase precursor  
Size: 543 amino acids; 61133 Da
Subcellular location: Secreted, extracellular space
Caution: It is uncertain whether Met-1 or Met-21 is the initiator
Secondary accessions: B2R865 Q96EM9

Explore the universe of human proteins at neXtProt for BTD: NX_P43251

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P43251

    • 4/7 DME Specific Peptides for BTD (P43251) (see all 7)
     FTCFDILF  NLYFEAAFD  MFLVANLGTK  RYRKHNLYFE 

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

    REFSEQ proteins: NP_000051.1  
    ENSEMBL proteins: 
     ENSP00000397113   ENSP00000403775   ENSP00000388212   ENSP00000306477   ENSP00000400995  
     ENSP00000394277   ENSP00000373288  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: BTD
    OriGene Protein Over-expression Lysate: BTD
    OriGene Custom Protein Services for BTD 
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    Novus Biologicals BTD Protein
    Novus Biologicals BTD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BTD

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005730nucleolus IEA--
    GO:0043204perikaryon IEA--
    GO:0045177apical part of cell IEA--


    BTD for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BTD

    Protein Domains /
    Families
    for BTD gene

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

    2 InterPro domains/families:
     IPR003010 C-N_Hydrolase
     IPR012101 Biotinidase_euk

    Graphical View of Domain Structure for InterPro Entry P43251

    ProtoNet protein and cluster: P43251

    1 Blocks protein family: IPB003010 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase

    UniProtKB/Swiss-Prot: BTD_HUMAN, P43251
    Similarity: Belongs to the CN hydrolase family. BTD/VNN subfamily
    Similarity: Contains 1 CN hydrolase domain


    Function
    for BTD 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: BTD_HUMAN, P43251
    Function: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation
    Catalytic activity: Biotin amide + H(2)O = biotin + NH(3)

         Genatlas biochemistry entry for BTD:
    biotinidase,76.5kDa,microsomal,catalyzing the recycling of biotin

    Enzyme Numbers (IUBMB): EC 3.5.1.121 2 EC 3.5.12

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: BTD 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: BTD
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for BTD

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004075biotin carboxylase activity TAS7509806
    GO:0016811hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides ----
    GO:0047708biotinidase activity IEA--


    BTD for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Btdtm1Bwol for BTD
         9 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Btd):
     behavior/neurological  growth/size  homeostasis/metabolism  integument  muscle 
     pigmentation  renal/urinary system  skeleton  vision/eye 

    BTD for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BTD 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Biotin metabolism
    		Biotin metabolism1.00
    2Vitamin digestion and absorption
    		Vitamin digestion and absorption1.00
    3Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    3         Kegg Pathways  (Kegg details for BTD):
        Biotin metabolism
    Metabolic pathways
    Vitamin digestion and absorption


    BTD for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BTD (ENSP000003064774) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLCSENSP000003383874STRING: ENSP00000338387
    AASSENSP000003770404STRING: ENSP00000377040
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006807nitrogen compound metabolic process IEA--
    GO:0007417central nervous system development TAS7550325
    GO:0008544epidermis development TAS7550325


    BTD for ontologies           About GeneDecksing



    Drugs & Compounds
    for BTD 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

    BTD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BTD

    6 HMDB Compounds for BTD    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    BiocytinBiotinyl-L-lysine (see all 7)576-19-2--
    Biotin(+)-Biotin (see all 42)58-85-5--
    Biotin amidebiotin amide 6929-42-6--
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    10/26 Novoseek chemical compound relationships for BTD gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biotin 93.4 197 8930409 (7), 9350481 (4), 10708686 (4), 10064314 (4) (see all 99)
    biocytin 85.9 35 7758201 (4), 8593541 (2), 8930409 (2), 1776689 (2) (see all 24)
    biotinamide 74.7 4 11459467 (2), 17105231 (1), 1503382 (1)
    lipoyllysine 69.9 3 8811903 (2)
    3-methylcrotonyl-coa 68.4 1 16398167 (1)
    lysine 52 8 8593541 (1), 16772434 (1), 16704194 (1), 7550325 (1) (see all 8)
    streptavidin 51.3 1 12009950 (1)
    valproic acid 44.8 9 16682156 (2), 11737173 (2), 18922714 (1)
    acyl-coa 40.7 6 18289467 (1), 16735255 (1), 17616847 (1), 16398167 (1) (see all 5)
    sarcosine 38.3 1 17105231 (1)

    Search CenterWatch for drugs/clinical trials and news about BTD 

    Transcripts
    for BTD 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 BTD gene: 
    NM_000060.2  

    Unigene Cluster for BTD:

    Biotinidase
    Hs.517830  [show with all ESTs]
    Unigene Representative Sequence: AK301838
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427382 ENST00000494021 ENST00000417015 ENST00000449107 ENST00000303498(uc011avv.2 uc003cah.3)
    ENST00000480711 ENST00000471964 ENST00000467027 ENST00000437172(uc011avw.2)
    ENST00000436193 ENST00000482824 ENST00000383778(uc011avx.2)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: BTD 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BTD (see all 7)
    OriGene shRNA RFP: BTD
    OriGene siRNA: BTD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BTD
    Clone
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    Primer
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    Additional cDNA sequence: 

    AK294301.1 AK297033.1 AK301838.1 AK313252.1 BC012099.1 U03274.1 

    10 DOTS entries:

    DT.99960980  DT.315966  DT.92442759  DT.91750173  DT.100685226  DT.100781977  DT.95167177  DT.120886786 
    DT.95254025  DT.101974633 

    24/169 AceView cDNA sequences (see all 169):

    BX402565 AL523081 BQ707863 BQ016141 BI761569 BM565546 BI834207 AU103839 
    AW305008 AI420961 AU103834 CD358893 CR624205 BM919775 AL523080 AI081313 
    BM840185 AU103837 AU076889 BM473862 NM_000060 AI433865 CA432686 BI871586 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for BTD (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c
    SP1:              -     -     -                                                                           
    SP2:                                -     -     -                                   -                     
    SP3:              -     -     -     -     -     -                                   -                     
    SP4:                          -     -     -     -                                   -                     
    SP5:              -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for BTD

    Expression
    for BTD 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

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

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

    BTD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartOutflow TractHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BTD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTD

    SOURCE GeneReport for Unigene cluster: Hs.517830
        SABiosciences Custom PCR Arrays for BTD
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for BTD 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 common ancestor of animals.

    Orthologs for BTD gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Btd1 , 5 biotinidase1, 5 83.49(n)1
    84.82(a)1    		   14 (19.36 cM)5
    263631  NM_025295.41  NP_079571.11 
     316410285 
    chicken
    (Gallus gallus)    		 Aves BTD1 biotinidase 65.02(n)
    63.37(a)    		   420639  NM_001199624.1  NP_001186553.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BTD6
    		 --
    		 56(a)
    		 1 ↔ 1
    		 6(35329105-35332516)
    zebrafish
    (Danio rerio)    		 Actinopterygii btd1 biotinidase 57.08(n)
    51.25(a)    		   555376  NM_001045844.1  NP_001039309.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG35993
    Btd1    		 Biotinidase1 29(a)
    (best of 2)3
    46.2(n)1
    35.15(a)1    		   5E13
    315521  NM_132070.21  NP_572298.11 


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

    Paralogs
    for BTD gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTD gene
    VNN12  VNN22  VNN32  
    3 SIMAP similar genes for BTD using alignment to 8 protein entries:     BTD_HUMAN (see all proteins):
    VNN2    VNN1    VNN3

    BTD for paralogs           About GeneDecksing



    Genomic Variants
    for BTD 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

    10/950 NCBI SNPs in BTD are shown (see all 950)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048936871,2
    		Cpathogenic15677121(+) TCAGCC/TGCCAA 2 R C mis10--------
    rs289346011,2
    		Cpathogenic15686118(+) CTTTGA/GCCCTG 2 D G mis1 ese32Minor allele frequency- G:0.00NA 4
    rs130788811,2
    		C,F,H,pathogenic15686693(+) TCTTTG/CATGGG 2 /H /D mis1 ese311Minor allele frequency- C:0.03NS EA NA EU 6477
    rs803386851,2
    		C,F,pathogenic15686731(+) ATCCAA/CGTGTG 2 Q H mis11Minor allele frequency- C:0.00NA 4552
    rs1048936921,2
    		Cpathogenic15686829(+) GGGCAA/CCTTCA 2 N T mis10--------
    rs803386861,2
    		Cpathogenic15686975(+) ATGGGC/TGCTTG 2 R C mis10--------
    rs1876277641,2
    		--15641258(+) CTTCCA/GGGACT 2 -- int1 us2k10--------
    rs1455019371,2
    		--15641279(+) AAGATC/GAAGAC 2 -- us2k1 int10--------
    rs1477212671,2
    		--15641363(+) TCAATA/GAATGT 2 -- us2k1 int10--------
    rs744255221,2
    		C,F,--15641421(+) AGTTAA/TGTATA 2 -- us2k1 int11Minor allele frequency- T:0.07WA 118

    HapMap Linkage Disequilibrium report for BTD (15642848 - 15687329 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BTD: --
    Human Gene Mutation Database (HGMD): BTD

    Locus Specific Mutation Databases (LSDB): BTD

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTD
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    Disorders / Diseases
    for BTD 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
    BTD for disorders           About GeneDecksing

    OMIM gene information: 609019   
    OMIM disorders: 253260  
    UniProtKB/Swiss-Prot: BTD_HUMAN, P43251
  • Defects in BTD are the cause of biotinidase deficiency (BTD deficiency) [MIM:253260]; also called late-onset
    • multiple carboxylase deficiency. BTD deficiency is a juvenile form of multiple carboxylase deficiency, an autosomal
    recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic
    acid metabolites, and dermatitis. BTD deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia,
    hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may
    occur

    20/65 diseases for BTD (see all 65):    About MalaCards
    multiple carboxylase deficiency    maple syrup urine disease    biotin-responsive basal ganglia disease    holocarboxylase synthetase deficiency
    coffin-siris syndrome    glycogen storage disease type ia    glycogen storage disease    biotinidase deficiency
    lipoprotein lipase deficiency    spinal cord disease    seborrheic dermatitis    organic acidemia
    hearing loss    basal ganglia disease    adrenal hyperplasia    tyrosinemia
    optic atrophy    juvenile myelomonocytic leukemia    sickle cell disease    congenital hypothyroidism

    2 diseases from the University of Copenhagen DISEASES database for BTD:
    Biotinidase deficiency     Holocarboxylase synthetase deficiency

    10/55 Novoseek disease relationships for BTD gene (see all 55)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biotinidase deficiency 99.6 501 12618081 (10), 7550325 (7), 1896047 (7), 18545994 (7) (see all 99)
    multiple carboxylase deficiency 94.8 9 2123277 (1), 9350481 (1), 12633764 (1), 15095958 (1) (see all 9)
    holocarboxylase synthetase deficiency 88.2 6 9492625 (2), 17274881 (1), 8053766 (1)
    maple syrup urine disease 78.9 11 12638945 (1), 16960984 (1), 1413809 (1), 18289467 (1) (see all 10)
    phenylketonurias 78.7 15 12766862 (2), 9689890 (1), 10891024 (1), 16960984 (1) (see all 13)
    aciduria organic 78.5 6 11952077 (3), 9350481 (1), 12633764 (1), 16783162 (1)
    galactosemias 78.3 12 12766862 (2), 10891024 (1), 1753440 (1), 1413809 (1) (see all 10)
    congenital hypothyroidism 72.6 10 12766862 (2), 10891024 (1), 16960984 (1), 16735255 (1) (see all 8)
    homocystinuria 72.2 10 12638945 (1), 8982947 (1), 1753440 (1), 1413809 (1) (see all 9)
    adrenal hyperplasia congenital 69.2 12 10891024 (1), 16960984 (1), 10844815 (1), 11728413 (1) (see all 11)

    Genatlas disease: BTD
    multiple carboxylase deficiency,late onset with feeding difficulties,hypotonia,seizures,lethargy, skin rash and
    metabolic acidosis,organic aciduria,biotinidase deficiency

    GeneTests: BTD
    Biotinidase Deficiency

    Genetic Association Database (GAD): BTD
    Human Genome Epidemiology (HuGE) Navigator: BTD (4 documents)

    Export disorders for BTD gene to outside databases

    Publications
    for BTD 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 BTD gene, integrated from 9 sources (see all 235):
    (articles sorted by number of sources associating them with BTD)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (PubMed id 12618081)1, 4, 9 Dobrowolski S.F....Naylor E.W. (2003)
    2. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. (PubMed id 9654207)1, 2, 9 Swango K.L.... Wolf B. (1998)
    3. Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. (PubMed id 9099842)1, 2, 9 Pomponio R.J.... Wolf B. (1997)
    4. Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. (PubMed id 10206677)1, 2, 9 Norrgard K.J.... Wolf B. (1998)
    5. Human serum biotinidase. cDNA cloning, sequence, and characterization. (PubMed id 7509806)1, 2, 9 Cole H.... Wolf B. (1994)
    6. Structure of the human biotinidase gene. (PubMed id 9530634)1, 2, 9 Knight H.C....Wolf B. (1998)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    8. 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)
    9. Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. (PubMed id 8001986)1, 3 Cole H....Wolf B. (1994)
    10. Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase. (PubMed id 18479898)1, 9 Kobza K.A....Zempleni J. (2008)

    External Searches for BTD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing BTD gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 686 HGNC: 1122 AceView: BTD Ensembl:ENSG00000169814 euGenes: HUgn686
    ECgene: BTD Kegg: 686 H-InvDB: BTD

    Other Databases showing BTD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BTD 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 BTD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BTD

    Intellectual Property
    for BTD gene

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

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



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