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 t... See more...

Aliases for PCCB Gene

Aliases for PCCB Gene

  • Propionyl-CoA Carboxylase Subunit Beta 2 3 5
  • Propionyl-CoA Carboxylase Beta Chain, Mitochondrial 3 4
  • Propionyl Coenzyme A Carboxylase, Beta Polypeptide 2 3
  • Propanoyl-CoA:Carbon Dioxide Ligase Subunit Beta 3 4
  • PCCase Subunit Beta 3 4
  • EC 6.4.1.3 4 50
  • Propionyl CoA Carboxylase, Beta Polypeptide 3
  • Propionyl-CoA Carboxylase Beta Subunit 3
  • PCCB 5

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 Subunit Beta) is a Protein Coding gene. Diseases associated with PCCB include Propionic Acidemia and Biotinidase Deficiency. Among its related pathways are Defects in biotin (Btn) metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include ligase activity and propionyl-CoA carboxylase activity. An important paralog of this gene is MCCC2.

UniProtKB/Swiss-Prot Summary for PCCB Gene

  • This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:6765947, PubMed:15890657). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:6765947, PubMed:15890657). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCCB Gene

Genomics for PCCB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCCB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J136247 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 257.6 -0.5 -495 4.9 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 ZNF580 ZNF592 KLF9 POLR2A PCCB HSALNG0029176 lnc-MSL2-7 IL20RB piR-32285-065 MSL2
GH03J136191 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 29 -55.5 -55548 7.6 BCLAF1 ZNF207 ZNF600 MYC IKZF1 ZNF592 ATF2 KLF9 POLR2A CEBPA MSL2 PCCB IL20RB NCK1-DT RF00017-3716 PPP2R3A
GH03J136134 Enhancer 1 Ensembl ENCODE 27.9 -113.3 -113340 5.6 MYC NCOR1 IKZF1 ZNF592 NFIC BHLHE40 FEZF1 MBD2 ARNT TAF9B PCCB IL20RB ENSG00000273486 NCK1-DT piR-55194-252 piR-43164-048 MSL2 PPP2R3A
GH03J136277 Enhancer 0.7 Ensembl ENCODE 29.3 +26.9 26861 2.4 ZIC2 CTCF GLIS1 PRDM10 KDM1A SCRT2 ZNF444 PCCB HSALNG0029177 HSALNG0029178 STAG1
GH03J136349 Enhancer 0.7 Ensembl ENCODE 27.2 +100.5 100516 2.2 JUND CEBPB CTCF POLR2A NFE2L2 EP300 FOS PCCB IL20RB STAG1 ENSG00000261758 ENSG00000273486 HSALNG0029181 HSALNG0029179
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCCB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCCB

Top Transcription factor binding sites by QIAGEN in the PCCB gene promoter:
  • FOXL1
  • FOXO1
  • FOXO1a
  • GR
  • GR-alpha
  • HSF2
  • NF-1
  • STAT3
  • STAT5A
  • STAT5B

Genomic Locations for PCCB Gene

Latest Assembly
chr3:136,250,340-136,337,896
(GRCh38/hg38)
Size:
87,557 bases
Orientation:
Plus strand

Previous Assembly
chr3:135,969,182-136,049,011
(GRCh37/hg19 by Entrez Gene)
Size:
79,830 bases
Orientation:
Plus strand

chr3:135,969,148-136,056,738
(GRCh37/hg19 by Ensembl)
Size:
87,591 bases
Orientation:
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:
    P05166-PCCB_HUMAN
    Recommended name:
    Propionyl-CoA carboxylase beta chain, mitochondrial
    Protein Accession:
    P05166
    Secondary Accessions:
    • B7Z2Z4
    • Q16813
    • Q96CX0

    Protein attributes for PCCB Gene

    Size:
    539 amino acids
    Molecular mass:
    58216 Da
    Quaternary structure:
    • The holoenzyme is a dodecamer composed of 6 PCCA/alpha subunits and 6 PCCB/beta subunits.

    Alternative splice isoforms for PCCB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCCB Gene

Selected DME Specific Peptides for PCCB Gene

P05166:
  • GKLTARERI
  • ECHDPSDRLVPELDT
  • TVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNV
  • VFSQDFTVFGGSL
  • GFARMNGRTVGIVGNQP
  • ESDMFVEHRCADFGMAA
  • SVNERIENKR
  • RKAYGGAY
  • GDTNYAWPTAEIAVMGAKGAVEIIFKGH
  • NDVDALCNLR
  • VYSPALTDF
  • SGVIPQIS
  • VKSVTNEDVTQE
  • RPWRKHAN
  • EKFANPFPAAVRGFVDDIIQPSSTRARICCDL

Post-translational modifications for PCCB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PCCB Gene

Gene Families for PCCB Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PCCB Gene

InterPro:
Blocks:
  • Carboxyl transferase family

Suggested Antigen Peptide Sequences for PCCB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54352, highly similar to Propionyl-CoA carboxylase beta chain, mitochondrial (EC 6.4.1.3) (B7Z2Z4_HUMAN)
  • Propanoyl-CoA:carbon dioxide ligase subunit beta (PCCB_HUMAN)
  • Propionyl Coenzyme A carboxylase, beta polypeptide, isoform CRA_a (Q9HBR7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05166

UniProtKB/Swiss-Prot:

PCCB_HUMAN :
  • The beta subunit contains the carboxyl transferase (CT) domain.
  • Belongs to the AccD/PCCB family.
Domain:
  • The beta subunit contains the carboxyl transferase (CT) domain.
Family:
  • 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

UniProtKB/Swiss-Prot Function:
This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:6765947, PubMed:15890657). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:6765947, PubMed:15890657). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate; Xref=Rhea:RHEA:23720, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57327, ChEBI:CHEBI:57392, ChEBI:CHEBI:456216; EC=6.4.1.3; Evidence={ECO:0000269|PubMed:15890657, ECO:0000269|PubMed:6765947};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + butanoyl-CoA + hydrogencarbonate = (2S)-ethylmalonyl-CoA + ADP + H(+) + phosphate; Xref=Rhea:RHEA:59520, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57371, ChEBI:CHEBI:60909, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P79384};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.29 mM for propanoyl-CoA {ECO:0000269|PubMed:6765947}; KM=0.41 mM for propanoyl-CoA (at 37 degrees Celsius and pH 8.0) {ECO:0000269|PubMed:15890657}; pH dependence: Optimum pH is 7.2-8.8 for the propionyl-CoA carboxylase activity as measured for the holoenzyme. {ECO:0000269|PubMed:6765947};
GENATLAS Biochemistry:
propionyl-CoA carboxylase,beta polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA TO methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway

Enzyme Numbers (IUBMB) for PCCB Gene

Phenotypes From GWAS Catalog for PCCB Gene

Gene Ontology (GO) - Molecular Function for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003989 acetyl-CoA carboxylase activity IEA --
GO:0004658 propionyl-CoA carboxylase activity IEA,IDA 6765947
GO:0005515 protein binding IPI 20725044
GO:0005524 ATP binding 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 Pccb<tm1.1(KOMP)Vlcg>

miRNA for PCCB Gene

miRTarBase miRNAs that target PCCB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCCB

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

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PCCB Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCCB Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target, cofactor 70
Valine Approved Nutra Target, Enzyme, substrate 43
Propanoyl-CoA Experimental Pharma Target 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
Hydrogen carbonate
  • [CO(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Dihydrogen carbonic acid
71-52-3
Methylmalonyl-CoA
  • (R)-Methylmalonyl-CoA
  • (R)-Methylmalonyl-coenzyme A
  • (S)-2-Methyl-3-oxopropanoyl-CoA
  • (S)-Methyl-malonyl-CoA
  • (S)-Methyl-malonyl-coenzyme A
104809-02-1
S-Methylmalonyl-CoA
  • (S)-Methylmalonyl-CoA
  • (S)-Methylmalonyl-coenzyme A
73173-91-8
genes like me logo Genes that share compounds with PCCB: view

Transcripts for PCCB Gene

mRNA/cDNA for PCCB Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCCB

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: -
SP2:
SP3: -
SP4: -
SP5: -
SP6: - -
SP7: -
SP8: -
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for PCCB Gene

GeneLoc Exon Structure for
PCCB

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, MaxQB, and MOPED for PCCB Gene



Protein tissue co-expression partners for PCCB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCCB

SOURCE GeneReport for Unigene cluster for PCCB Gene:

Hs.63788

Evidence on tissue expression from TISSUES for PCCB Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Kidney(4.6)
  • Blood(4.4)
  • Skin(4.4)
  • Pancreas(4.3)
  • Heart(2.9)
  • Stomach(2.8)
  • Intestine(2.8)
  • Muscle(2.6)
  • Adrenal gland(2.4)
  • Gall bladder(2.4)
  • Thyroid gland(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCCB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PCCB: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia PCCB 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PCCB 29 30
  • 91.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PCCB 29 30
  • 91.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pccb 29 16 30
  • 87.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pccb 29
  • 87.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia PCCB 30
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PCCB 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PCCB 29 30
  • 77.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PCCB 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pccb 29
  • 75 (n)
Str.11522 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68650 29
Zebrafish
(Danio rerio)
Actinopterygii pccb 29 30
  • 73.6 (n)
OneToOne
Dr.11518 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9703 29
Worm
(Caenorhabditis elegans)
Secernentea F52E4.1a 31
  • 75 (a)
F52E4.1b 31
  • 75 (a)
pccb-1 29 30
  • 67.32 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11978 29
Species where no ortholog for PCCB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

ENSEMBL:
Gene Tree for PCCB (if available)
TreeFam:
Gene Tree for PCCB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCCB: view image
Alliance of Genome Resources:
Additional Orthologs for PCCB

Paralogs for PCCB Gene

Paralogs for PCCB Gene

(3) SIMAP similar genes for PCCB Gene using alignment to 15 proteins:

  • PCCB_HUMAN
  • C9JAW3_HUMAN
  • C9JQS9_HUMAN
  • C9JVW9_HUMAN
  • C9JVY9_HUMAN
  • E7ENC1_HUMAN
  • E7ETT1_HUMAN
  • E7ETT4_HUMAN
  • E7EUY3_HUMAN
  • E7EX59_HUMAN
  • E9PDR0_HUMAN
  • E9PEC3_HUMAN
  • F8WBI9_HUMAN
  • H7C5C9_HUMAN
  • Q9HBR7_HUMAN
genes like me logo Genes that share paralogs with PCCB: view

Variants for PCCB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCCB Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1001139 Uncertain Significance: Propionic acidemia 136,327,704(+) C/T
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
MISSENSE
1002126 Uncertain Significance: Propionic acidemia 136,327,735(+) G/A
NM_000532.5(PCCB):c.1398+3G>A
INTRON
1005879 Uncertain Significance: Propionic acidemia 136,250,398(+) C/T
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
MISSENSE
1008157 Uncertain Significance: Propionic acidemia 136,261,982(+) C/T
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
MISSENSE
1015018 Uncertain Significance: Propionic acidemia 136,329,961(+) C/G
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PCCB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for PCCB Gene

Human Gene Mutation Database (HGMD)
PCCB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCCB
Leiden Open Variation Database (LOVD)
PCCB

SNP Genotyping and Copy Number Assays for research

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

Disorders for PCCB Gene

MalaCards: The human disease database

(11) MalaCards diseases for PCCB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
propionic acidemia
  • propionyl-coa carboxylase deficiency
biotinidase deficiency
  • btd deficiency
multiple carboxylase deficiency
  • mcd
biotin deficiency
  • b7 deficiency
organic acidemia
  • organic acid metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search PCCB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCCB_HUMAN
  • 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:11749052, ECO:0000269 PubMed:12189489, ECO:0000269 PubMed:12559849, ECO:0000269 PubMed:15059621, ECO:0000269 PubMed:15890657, ECO:0000269 PubMed:2154743, ECO:0000269 PubMed:8411997, ECO:0000269 PubMed:9683601}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for PCCB Gene

hyperglycinemia,ketotic,propionic acidemia B

Additional Disease Information for PCCB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 AR (Circulation. Cardiovascular genetics 2009) 3 22 40
  2. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID: 15059621) Yang X … Ohura T (Molecular genetics and metabolism 2004) 3 4 22
  3. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID: 12559849) Pérez B … Ugarte M (Molecular genetics and metabolism 2003) 3 4 22
  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 (Human genetics 2002) 3 4 22
  5. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PMID: 11749052) Muro S … Ugarte M (Molecular genetics and metabolism 2001) 3 4 22

Products for PCCB Gene

Sources for PCCB Gene