Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5096
Gene name Gene Name - the full gene name approved by the HGNC.
Propionyl-CoA carboxylase subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCCB
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.3
Summary Summary of gene provided in NCBI Entrez 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.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs77820367 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs111033542 C>T Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs121964959 C>A,T Pathogenic-likely-pathogenic, likely-benign Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs121964960 G>A Pathogenic-likely-pathogenic Missense variant, coding sequence variant
rs121964961 A>G,T Pathogenic-likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020658 hsa-miR-155-5p Proteomics 18668040
MIRT029293 hsa-miR-26b-5p Microarray 19088304
MIRT032255 hsa-let-7b-5p Proteomics 18668040
MIRT043905 hsa-miR-378a-3p CLASH 23622248
MIRT039868 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004658 Function Propionyl-CoA carboxylase activity IBA
GO:0004658 Function Propionyl-CoA carboxylase activity IDA 6765947
GO:0004658 Function Propionyl-CoA carboxylase activity IEA
GO:0005515 Function Protein binding IPI 20725044, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
232050 8654 ENSG00000114054
Protein
UniProt ID P05166
Protein name Propionyl-CoA carboxylase beta chain, mitochondrial (PCCase subunit beta) (EC 6.4.1.3) (Propanoyl-CoA:carbon dioxide ligase subunit beta)
Protein 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
PDB 7YBU , 8XL3 , 8XL4 , 8XL5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01039 Carboxyl_trans 57 537 Carboxyl transferase domain Family
Sequence
Sequence length 539
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism
  Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Propionyl-CoA catabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Propionic acidemia propionic acidemia rs751538672, rs777027944, rs1553778912, rs121964961, rs1576337935, rs1553777590, rs398123464, rs1933813724, rs1553784721, rs879253816, rs1553779458, rs1576327011, rs1576360488, rs769968548, rs786200983
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N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 32490597
Cardiomyopathies Associate 19238581
Genetic Diseases Inborn Associate 27578510, 9683601
Methylmalonic acidemia Associate 17966092
Mitochondrial Diseases Associate 32490597
Propionic Acidemia Associate 10353789, 10820128, 12757933, 15949719, 17966092, 19238581, 21125326, 24916042, 25046265, 31132581, 31916709, 32252659, 32822967, 33128956, 33183246
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Propionic Acidemia Inhibit 19238581, 26740382, 3687944, 6614005, 8023851