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

PCCB Gene

protein-coding   GIFtS: 65
GCID: GC03P135969

propionyl CoA carboxylase, beta polypeptide

(Previous names: propionyl Coenzyme A carboxylase, beta polypeptide )
 Explore 9 diseases affiliated with
PCCB via our new
 Human Malady Compendium 
Biological research products
for PCCB
    

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

Aliases
Propionyl CoA Carboxylase, Beta Polypeptide1 2
Propionyl Coenzyme A Carboxylase, Beta Polypeptide1 2
Propanoyl-CoA:Carbon Dioxide Ligase Subunit Beta2 3
PCCase Subunit Beta2 3
EC 6.4.1.33 8
Propionyl-CoA Carboxylase Beta Chain, Mitochondrial2

External Ids:    HGNC: 86541   Entrez Gene: 50962   Ensembl: ENSG000001140547   OMIM: 2320505   UniProtKB: P051663   

Export aliases for PCCB gene to outside databases

Previous GC identifers: GC03U990060 GC03P136720 GC03P137250 GC03P137290 GC03P137451 GC03P133346


(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 PCCB:
The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the
catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and
six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia
type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.(provided by
RefSeq, May 2010)




(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_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCCB gene promoter:
         STAT5B   GR   NF-1   STAT5A   FOXL1   HSF2   FOXO1a   STAT3   GR-alpha   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCCB promoter sequence
   Search SABiosciences Chromatin IP Primers for PCCB

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


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

Entrez Gene cytogenetic band: 3q21-q22   Ensembl cytogenetic band:  3q22.3   HGNC cytogenetic band: 3q21-q22

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P135969:  view genomic region     (about GC identifiers)

Start:
135,969,148 bp from pter      End:
136,056,738 bp from pter
Size:
87,591 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166 (See protein sequence)
Recommended Name: Propionyl-CoA carboxylase beta chain, mitochondrial precursor  
Size: 539 amino acids; 58216 Da
Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits
Subcellular location: Mitochondrion matrix
Secondary accessions: B7Z2Z4 Q16813 Q96CX0
Alternative splicing: 2 isoforms:  P05166-1   P05166-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PCCB: NX_P05166

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05166

  • 4/15 DME Specific Peptides for PCCB (P05166) (see all 15)
     SGVIPQIS  RPWRKHAN  RKAYGGAY  GKLTARERI 

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000523.2  NP_001171485.1  

    ENSEMBL proteins: 
     ENSP00000251654   ENSP00000418307   ENSP00000420639   ENSP00000419129   ENSP00000420391  
     ENSP00000420158   ENSP00000417937   ENSP00000417253   ENSP00000417549   ENSP00000419027  
     ENSP00000419263   ENSP00000420759   ENSP00000419563   ENSP00000418020   ENSP00000419293  
    Reactome Protein details: P05166
    Human Recombinant Protein Products: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS8188292
    GO:0005759mitochondrial matrix TAS--
    GO:0009317acetyl-CoA carboxylase complex ----


    PCCB for ontologies           About GeneDecksing



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

    PCCB for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011762 COA_CT_N
     IPR000022 Carboxyl_trans
     IPR011763 COA_CT_C

    Graphical View of Domain Structure for InterPro Entry P05166

    ProtoNet protein and cluster: P05166

    1 Blocks protein family: IPB000022 Carboxyl transferase family

    UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166
    Similarity: Belongs to the AccD/PCCB family
    Similarity: Contains 1 carboxyltransferase domain


    (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: PCCB_HUMAN, P05166
    Catalytic activity: ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA

         Genatlas biochemistry entry for PCCB:
    propionyl-CoA carboxylase,beta polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA TO methylmalonyl
    CoA,branched chain valine,isoleucine catabolism,energy pathway

    Enzyme Number (IUBMB): EC 6.4.1.31 2

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    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003989acetyl-CoA carboxylase activity ----
    GO:0004658propionyl-CoA carboxylase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016874ligase activity ----


    PCCB for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for PCCB:
     Decreased Wnt reporter activit  Increased HPV18 LCR reporter a  Increased S DNA content 


    (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 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    2Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39
    Propanoate metabolism0.07
    3Glyoxylate and dicarboxylate metabolism
    Glyoxylate and dicarboxylate metabolism1.00
    4Propionyl-CoA catabolism
    Propionyl-CoA catabolism1.00
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for PCCB
        Propionyl-CoA catabolism
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins
    Mitochondrial Fatty Acid Beta-Oxidation


    4         Kegg Pathways  (Kegg details for PCCB):
        Valine, leucine and isoleucine degradation
    Glyoxylate and dicarboxylate metabolism
    Propanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166
    Pathway: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3


    PCCB for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/250 Interacting proteins for PCCB (P051662, 3 ENSP000002516544) via UniProtKB, MINT, STRING, and/or I2D (see all 250)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    PCCAP051653, ENSP000003654624I2D: score=1 STRING: ENSP00000365462
    PPP2R2BQ000053, ENSP000003365914I2D: score=1 STRING: ENSP00000336591
    DLDP096222, ENSP000002054024MINT-8079030 STRING: ENSP00000205402
    INPPL1O153573, ENSP000002982294I2D: score=1 STRING: ENSP00000298229
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process ----
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0019626short-chain fatty acid catabolic process TAS--
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    PCCB for ontologies           About GeneDecksing



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

    PCCB for compounds           About GeneDecksing

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

    Browse Tocris compounds for PCCB

    8 HMDB Compounds for PCCB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Biotin(+)-Biotin (see all 42)58-85-5--
    L-Valine(2S)-2-Amino-3-methylbutanoate (see all 27)72-18-4--
    Methylmalonyl-CoA(R)-methylmalonyl-CoA (see all 12)104809-02-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Propionyl-CoAPropionyl-CoA (see all 8)317-66-8--
    S-Methylmalonyl-CoA(S)-Methylmalonyl-CoA (see all 2)73173-91-8--

    2 DrugBank Compounds for PCCB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Valine(2S)-2-Amino-3-methylbutanoic acid (see all 10)72-18-4target--17139284 12409268 17016423
    enzymesubstrate17139284 12409268 17016423 17139284 12409268 17016423
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--15623830 17139284 9311592 17016423 14997352

    3 Novoseek chemical compound relationships for PCCB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pcca 99.2 62 10502773 (6), 19099776 (5), 9311592 (4), 15059621 (4) (see all 29)
    propionyl coa 90.6 6 11245989 (2), 15949719 (1), 10094392 (1)
    biotin 40.5 4 9311592 (2), 12385775 (1)

    Search CenterWatch for drugs/clinical trials and news about PCCB 

    (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 PCCB gene (2 alternative transcripts): 
    NM_000532.4  NM_001178014.1  

    Unigene Cluster for PCCB:

    Propionyl CoA carboxylase, beta polypeptide
    Hs.63788  [show with all ESTs]
    Unigene Representative Sequence: AB209009
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000251654(uc003eqy.2) ENST00000490504 ENST00000483687 ENST00000468777
    ENST00000462637 ENST00000466072 ENST00000484181 ENST00000482086 ENST00000471595(uc003eqz.1)
    ENST00000469217(uc011bmc.2) ENST00000465423 ENST00000478469 ENST00000474833
    ENST00000462542 ENST00000494742 ENST00000459873 ENST00000475214(uc011bmd.1)
    ENST00000465176

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    Additional cDNA sequence: 

    AB209009.1 AF251189.1 AF251191.1 AK130359.1 AK225215.1 AK225733.1 AK295312.1 AK302522.1 
    AK303079.1 AL831978.2 BC005909.1 BC013768.1 BC018013.1 BC053661.1 M13573.1 S67325.1 
    X73424.1 

    24 DOTS entries:

    DT.415386  DT.95335905  DT.92441646  DT.95283426  DT.101964909  DT.101984718  DT.97865771  DT.120900467 
    DT.120900469  DT.101984715  DT.101984719  DT.75185376  DT.100045524  DT.100720585  DT.92441652  DT.95283416 
    DT.100045521  DT.95283423  DT.95283427  DT.95317646  DT.120900475  DT.120900535  DT.446736  DT.97811438 

    24/272 AceView cDNA sequences (see all 272):

    CD014123 AI581822 BU616909 CR614392 BE670742 CD014040 CR618864 BI831455 
    BG674836 BP348752 CR609162 BM746314 CR601703 AK130359 CB159480 AU119871 
    AA862459 BF982603 CD014043 AA680161 BU849561 CD238580 BU619099 BE408707 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for PCCB (see all 16)    About this scheme

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

    ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:        -                                 
    SP2:                                          
    SP3:        -                                 
    SP4:        -                                 
    SP5:        -                                 


    ECgene alternative splicing isoforms for PCCB

    (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

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

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

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

    SOURCE GeneReport for Unigene cluster: Hs.63788
        SABiosciences Custom PCR Arrays for PCCB
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCB

    (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 PCCB gene from 5/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PCCB1 propionyl CoA carboxylase, beta polypeptide 77.65(n)
    87.3(a)
      768706  XM_001231793.2  XP_001231794.2 
    lizard
    (Anolis carolinensis)
    Reptilia PCCB6
    --
    83(a)
    1 ↔ 1
    3(34793248-34814923)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686502 propionyl-CoA carboxylase 76.59(n)    BC046371.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.115182 Danio rerio cDNA clone IMAGE3815270 76.58(n)    BC058325.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F52E4.1a3
    pccb-11
    propionyl-CoA carboxylase beta3
    Protein PCCB-11
    75(a)
    (best of 2)3
    67.32(n)1
    76.32(a)1
      X(3125737-3127511)3
    1805961  NM_171648.21  NP_741743.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCCB gene
    MCCC22  
    3 SIMAP similar genes for PCCB using alignment to 15 protein entries:     PCCB_HUMAN (see all proteins):
    DKFZp451E113    L3MBTL2    MCCC2

    PCCB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1428 NCBI SNPs in PCCB are shown (see all 1428    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424033181,2
    C,F,non-pathogenic249433383(+) TGCAGC/TAGTGC 4 A V mis12Minor allele frequency- T:0.00NA EU 5875
    rs2019841771,2
    C,non-pathogenic249464060(+) CTCCCA/GTCCGT 4 I V mis10--------
    rs1867102331,2
    C,pathogenic249432292(+) CCACAC/TGTGCC 4 R C mis10--------
    rs1219649611,2
    Cpathogenic249434594(+) GGCCTA/GTGGAG 4 Y C mis10--------
    rs1219649591,2
    Cpathogenic249435048(+) TCATCC/TGGCAT 4 R W mis10--------
    rs1219649601,2
    Cpathogenic249500062(+) TCCAAA/GAAGGA 4 K E mis10--------
    rs745673501,2
    C,F,--133344577(+) GAGGCT/CTTGGC 2 -- us2k11Minor allele frequency- C:0.03EA 120
    rs769125131,2
    --133344827(+) ACCATG/TTTCTT 2 -- us2k11Minor allele frequency- T:0.01WA 118
    rs783459011,2
    --133345379(+) TTCCAT/ACCACT 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs732222571,2
    --133345410(+) TAGCTA/GTAAAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PCCB (135969148 - 136056738 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for PCCB
         6 CNVs: 63598 36071 91582 36070 6211 62105
         1 Indel: 27164
    Human Gene Mutation Database (HGMD): PCCB

    Locus Specific Mutation Databases (LSDB): PCCB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PCCB
    DNA2.0 Custom Variant and Variant Library Synthesis for PCCB

    (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

    PCCB for disorders           About GeneDecksing

    OMIM gene information: 232050   
    OMIM disorders: 606054  
    UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166
  • Defects in PCCB are the cause of propionic acidemia type II (PA-2) [MIM:606054]. PA-2 is a life-threatening
  • disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia,
    hypogammaglobulinemia, developmental retardation, and intolerance to protein

    9 diseases for PCCB:    About MalaCards
    propionic acidemia    blepharophimosis, ptosis, and epicanthus inversus syndrome    biotinidase deficiency    blepharophimosis
    metabolic disorders    ptosis    neutropenia    cholesterol
    adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for PCCB:
    Propionic acidemia

    3 Novoseek disease relationships for PCCB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    propionic acidemia 98.4 31 8188292 (2), 11749052 (2), 12757933 (2), 15059621 (2) (see all 22)
    enzyme deficiency 60.4 2 12743028 (1), 15059621 (1)
    metabolic disorder 54.6 4 9683601 (1), 8188292 (1), 11749052 (1), 10101253 (1)

    Genatlas disease: PCCB
    hyperglycinemia,ketotic,propionic acidemia B

    Human Genome Epidemiology (HuGE) Navigator: PCCB (6 documents)

    Export disorders for PCCB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PCCB gene, integrated from 9 sources (see all 79):
    (articles sorted by number of sources associating them with PCCB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. (PubMed id 10502773)1, 2, 9 Ugarte M.... Gravel R.A. (1999)
    2. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PubMed id 15059621)1, 2, 9 Yang X.... Ohura T. (2004)
    3. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PubMed id 11749052)1, 2, 9 Muro S.... Ugarte M. (2001)
    4. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PubMed id 12559849)1, 2, 9 Perez B.... Ugarte M. (2003)
    5. Identification of novel mutations in the PCCB gene in European propionic acidemia patients. (PubMed id 10447268)1, 2, 9 Muro S.... Ugarte M. (1999)
    6. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. (PubMed id 9683601)1, 2, 9 Rodriguez-Pombo P.... Ugarte M. (1998)
    7. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. (PubMed id 8188292)1, 2, 9 Lamhonwah A.-M.... Gravel R.A. (1994)
    8. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. (PubMed id 12189489)1, 2, 9 Yorifuji T.... Nakahata T. (2002)
    9. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. (PubMed id 8411997)1, 2, 9 Tahara T.... Fenton W.A. (1993)
    10. 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)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5096 HGNC: 8654 AceView: PCCB Ensembl:ENSG00000114054 euGenes: HUgn5096
    ECgene: PCCB Kegg: 5096 H-InvDB: PCCB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PCCB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCCB

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     
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     Regulatory tfbs in PCCB promoter
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