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Aliases for PCCB Gene

Aliases for PCCB Gene

  • Propionyl-CoA Carboxylase Beta Subunit 2 3 5
  • EC 4 61
  • Propionyl Coenzyme A Carboxylase, Beta Polypeptide 2
  • Propanoyl-CoA:Carbon Dioxide Ligase Subunit Beta 4
  • PCCase Subunit Beta 4

External Ids for PCCB Gene

Previous GeneCards Identifiers for PCCB Gene

  • GC03U990060
  • GC03P136720
  • GC03P137250
  • GC03P137290
  • GC03P137451
  • GC03P135969
  • GC03P133346

Summaries for PCCB Gene

Entrez Gene Summary for PCCB Gene

  • 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]

GeneCards Summary for PCCB Gene

PCCB (Propionyl-CoA Carboxylase Beta Subunit) is a Protein Coding gene. Diseases associated with PCCB include Propionicacidemia and Pccb-Related Propionic Acidemia. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include ligase activity and propionyl-CoA carboxylase activity. An important paralog of this gene is MCCC2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCCB Gene

Genomics for PCCB Gene

Regulatory Elements for PCCB Gene

Enhancers for PCCB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F136191 1.2 ENCODE 29 -55.3 -55291 7.1 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 PCCB MSL2 NCK1 IL20RB NCK1-AS1 GC03P136156
GH03F136349 0.8 Ensembl ENCODE 27.1 +100.6 100550 2.2 CTCF JUND BHLHE40 CEBPB FOS MAFK NFE2L2 PCCB IL20RB STAG1 ENSG00000261758 ENSG00000273486 GC03M136431 RNU6-1284P
GH03F136170 1.3 FANTOM5 Ensembl ENCODE 15.5 -76.4 -76404 7.4 CTCF FEZF1 RAD21 ZNF316 ZNF366 SMC3 NFE2 ZNF600 DEK NFE2L2 PCCB IL20RB ENSG00000273486 NCK1-AS1 GC03P136156 MSL2
GH03F136134 0.9 ENCODE 17.1 -115.2 -115245 1.7 HDAC1 ARNT TBL1XR1 CHAMP1 GATA2 CREM ZNF263 ZBTB2 NCOA1 ZEB2 PCCB ENSG00000273486 TDGF1P6 ENSG00000273455
GH03F136140 1.4 FANTOM5 Ensembl ENCODE 10.7 -107.9 -107895 2.9 JUN INSM2 FEZF1 RFX5 HIC1 ZNF316 POLR2A ZNF366 SCRT2 FOS PCCB IL20RB ENSG00000273486 MSL2 TDGF1P6 ENSG00000273455
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCCB on UCSC Golden Path with GeneCards custom track

Promoters for PCCB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001374637 194 1401 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207

Genomic Location for PCCB Gene

136,250,306 bp from pter
136,337,896 bp from pter
87,591 bases
Plus strand

Genomic View for PCCB Gene

Genes around PCCB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCCB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCCB Gene

Proteins for PCCB Gene

  • Protein details for PCCB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Propionyl-CoA carboxylase beta chain, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B7Z2Z4
    • Q16813
    • Q96CX0

    Protein attributes for PCCB Gene

    539 amino acids
    Molecular mass:
    58216 Da
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.

    Alternative splice isoforms for PCCB Gene


neXtProt entry for PCCB Gene

Selected DME Specific Peptides for PCCB Gene


Post-translational modifications for PCCB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PCCB

Domains & Families for PCCB Gene

Gene Families for PCCB Gene

Protein Domains for PCCB Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 CoA carboxyltransferase C-terminal domain.
  • Belongs to the AccD/PCCB family.
  • Contains 1 CoA carboxyltransferase C-terminal domain.
  • Contains 1 CoA carboxyltransferase N-terminal domain.
  • Belongs to the AccD/PCCB family.
genes like me logo Genes that share domains with PCCB: view

Function for PCCB Gene

Molecular function for PCCB Gene

GENATLAS Biochemistry:
propionyl-CoA carboxylase,beta polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA TO methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.

Enzyme Numbers (IUBMB) for PCCB Gene

Gene Ontology (GO) - Molecular Function for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003989 acetyl-CoA carboxylase activity IEA --
GO:0004658 propionyl-CoA carboxylase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with PCCB: view
genes like me logo Genes that share phenotypes with PCCB: view

Human Phenotype Ontology for PCCB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCCB Gene

MGI Knock Outs for PCCB:
  • Pccb tm1.1(KOMP)Vlcg

Animal Model Products

miRNA for PCCB Gene

miRTarBase miRNAs that target PCCB

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PCCB Gene

Localization for PCCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCCB Gene

Mitochondrion matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCCB gene
Compartment Confidence
mitochondrion 5
cytosol 4

Gene Ontology (GO) - Cellular Components for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,TAS 8188292
GO:0005759 mitochondrial matrix IEA,TAS --
GO:0005829 cytosol TAS --
GO:0009317 acetyl-CoA carboxylase complex IEA --
genes like me logo Genes that share ontologies with PCCB: view

Pathways & Interactions for PCCB Gene

genes like me logo Genes that share pathways with PCCB: view

UniProtKB/Swiss-Prot P05166-PCCB_HUMAN

  • Pathway: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.

Gene Ontology (GO) - Biological Process for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006768 biotin metabolic process TAS --
GO:0019626 short-chain fatty acid catabolic process TAS --
genes like me logo Genes that share ontologies with PCCB: view

No data available for SIGNOR curated interactions for PCCB Gene

Drugs & Compounds for PCCB Gene

(5) Drugs for PCCB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 43
L-Valine Approved Nutra Target, Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Propionyl-CoA Experimental Pharma 0

(7) Additional Compounds for PCCB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
  • (R)-methylmalonyl-CoA
  • (R)-methylmalonyl-Coenzyme A
  • (S)-2-Methyl-3-Oxopropanoyl-Coa
  • (S)-methyl-malonyl-CoA
  • (S)-methyl-malonyl-Coenzyme A
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
  • (S)-Methylmalonyl-CoA
  • (S)-Methylmalonyl-Coenzyme A
genes like me logo Genes that share compounds with PCCB: view

Transcripts for PCCB Gene

Unigene Clusters for PCCB Gene

Propionyl CoA carboxylase, beta polypeptide:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCCB Gene

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: - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - -
SP10: - -
SP11: - - - - -
SP12: - - - -
SP13: - - - - -
SP14: - - - - - - - - - - - - - - - - - -
SP15: -
SP16: -

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: -
SP3: -
SP4: -
SP5: -
SP6: - -
SP7: -
SP8: -
SP9: -
SP10: -

Relevant External Links for PCCB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCCB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCCB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCCB Gene

This gene is overexpressed in Liver (x4.6) and Adrenal Gland (x4.2).

Protein differential expression in normal tissues from HIPED for PCCB Gene

This gene is overexpressed in Kidney (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCCB Gene

Protein tissue co-expression partners for PCCB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCCB Gene:


SOURCE GeneReport for Unigene cluster for PCCB Gene:

genes like me logo Genes that share expression patterns with PCCB: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PCCB Gene

Orthologs for PCCB Gene

This gene was present in the common ancestor of animals.

Orthologs for PCCB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCCB 34 35
  • 99.58 (n)
(Canis familiaris)
Mammalia PCCB 34 35
  • 91.78 (n)
(Bos Taurus)
Mammalia PCCB 34 35
  • 91.52 (n)
(Mus musculus)
Mammalia Pccb 34 16 35
  • 87.51 (n)
(Rattus norvegicus)
Mammalia Pccb 34
  • 87.2 (n)
(Monodelphis domestica)
Mammalia PCCB 35
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia PCCB 35
  • 84 (a)
(Gallus gallus)
Aves PCCB 34 35
  • 77.65 (n)
(Anolis carolinensis)
Reptilia PCCB 35
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pccb 34
  • 75 (n)
Str.11522 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68650 34
(Danio rerio)
Actinopterygii pccb 34 35
  • 73.6 (n)
Dr.11518 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9703 34
(Caenorhabditis elegans)
Secernentea F52E4.1a 36
  • 75 (a)
F52E4.1b 36
  • 75 (a)
pccb-1 34 35
  • 67.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11978 34
Species where no ortholog for PCCB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCCB Gene

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

Paralogs for PCCB Gene

Paralogs for PCCB Gene

genes like me logo Genes that share paralogs with PCCB: view

Variants for PCCB Gene

Sequence variations from dbSNP and Humsavar for PCCB Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121964959 Propionic acidemia type II (PA-2) [MIM:606054], Pathogenic 136,327,184(+) TCATC(C/T)GGCAT reference, missense
rs121964960 Propionic acidemia type II (PA-2) [MIM:606054], Pathogenic 136,262,024(+) TCCAA(A/G)AAGGA reference, missense
rs121964961 Propionic acidemia type II (PA-2) [MIM:606054], Pathogenic 136,327,638(+) GGCCT(A/G)TGGAG reference, missense
rs142403318 Propionic acidemia type II (PA-2) [MIM:606054], Benign 136,328,849(+) TGCAG(C/T)AGTGC reference, missense
rs186710233 Propionic acidemia type II (PA-2) [MIM:606054], Pathogenic 136,329,940(+) CCACA(C/T)GTGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PCCB Gene

Variant ID Type Subtype PubMed ID
nsv821587 CNV deletion 20802225
nsv591849 CNV loss 21841781
nsv591848 CNV loss 21841781
nsv591840 CNV loss 21841781
nsv591834 CNV gain 21841781
nsv514170 CNV loss 21397061
nsv508246 CNV deletion 20534489
nsv4025 CNV deletion 18451855
nsv237910 CNV deletion 16902084
nsv1125235 CNV insertion 24896259
nsv1109548 CNV deletion 24896259
nsv1073251 CNV deletion 25765185
esv9585 CNV loss 19470904
esv3597888 CNV loss 21293372
esv3597887 CNV loss 21293372
esv3597886 CNV loss 21293372
esv3569016 CNV loss 25503493
esv3562598 CNV deletion 23714750
esv3562597 CNV deletion 23714750
esv2725957 CNV deletion 23290073
esv2725956 CNV deletion 23290073
esv2665912 CNV deletion 23128226
esv2662772 CNV deletion 23128226
esv22097 CNV gain+loss 19812545
esv1521994 CNV deletion 17803354
esv1003652 CNV gain 20482838
dgv8614n54 CNV loss 21841781
dgv8613n54 CNV loss 21841781
dgv8612n54 CNV gain+loss 21841781
dgv8611n54 CNV gain 21841781
dgv37n50 CNV loss 21212237
dgv303e215 CNV deletion 23714750
dgv2607n106 CNV deletion 24896259
dgv1411e212 CNV loss 25503493
dgv1410e212 CNV gain 25503493
dgv1409e212 CNV gain 25503493
dgv129n73 CNV deletion 24416366

Variation tolerance for PCCB Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCCB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCCB Gene

Disorders for PCCB Gene

MalaCards: The human disease database

(9) MalaCards diseases for PCCB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • propionic acidemia
pccb-related propionic acidemia
  • pccb-related propionicacidemia
biotinidase deficiency
  • biotinidase deficiency multiple carboxylase deficiency, late-onset
multiple carboxylase deficiency
  • mcd
biotin deficiency
  • b7 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PCCB in MalaCards View complete list of genes associated with diseases


  • Propionic acidemia type II (PA-2) [MIM:606054]: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. {ECO:0000269 PubMed:10447268, ECO:0000269 PubMed:12189489, ECO:0000269 PubMed:12559849, ECO:0000269 PubMed:15059621, ECO:0000269 PubMed:2154743, ECO:0000269 PubMed:8411997, ECO:0000269 PubMed:9683601}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PCCB Gene

hyperglycinemia,ketotic,propionic acidemia B

Relevant External Links for PCCB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PCCB: view

Publications for PCCB Gene

  1. Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. (PMID: 20031576) Dehghan A. … Folsom A.R. (Circ Cardiovasc Genet 2009) 3 22 46 64
  2. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID: 15059621) Yang X. … Ohura T. (Mol. Genet. Metab. 2004) 3 4 22 64
  3. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID: 12559849) Perez B. … Ugarte M. (Mol. Genet. Metab. 2003) 3 4 22 64
  4. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. (PMID: 12189489) Yorifuji T. … Nakahata T. (Hum. Genet. 2002) 3 4 22 64
  5. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PMID: 11749052) Muro S. … Ugarte M. (Mol. Genet. Metab. 2001) 3 4 22 64

Products for PCCB Gene

Sources for PCCB Gene

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