Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5096
Gene name	Propionyl-CoA carboxylase subunit beta
Gene symbol	PCCB
Synonyms (NCBI Gene)	-
Chromosome	3
Chromosome location	3q22.3
Summary	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.

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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
rs145628302	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs150555106	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186031457	C>T	Pathogenic	Coding sequence variant, stop gained
rs186710233	C>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs199769617	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs202247817	G>T	Pathogenic	Coding sequence variant, stop gained
rs202247818	G>A	Pathogenic	Coding sequence variant, missense variant
rs202247819	G>C	Pathogenic	Coding sequence variant, missense variant
rs202247820	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs202247821	->CCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe insertion
rs202247822	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs202247823	A>G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs374722096	C>T	Pathogenic	Coding sequence variant, missense variant
rs397507445	GGGCATCATCCGGC>TAGAGCACAGGA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs398123460	G>A	Pathogenic	Splice donor variant
rs398123462	T>A	Pathogenic	Initiator codon variant, missense variant
rs398123463	TT>AAC	Pathogenic	Coding sequence variant, stop gained
rs398123464	G>A	Pathogenic	Initiator codon variant, missense variant
rs572246667	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs587776758	TT>-,TTT	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, frameshift variant
rs746102997	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs748393514	->C	Pathogenic	Coding sequence variant, frameshift variant
rs749908889	C>G,T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs751538672	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs752377212	A>G	Likely-pathogenic	Splice acceptor variant
rs753981900	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs754664563	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs755776820	TT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs756414710	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs758309460	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs768935968	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs769521436	A>G	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs769968548	->C,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs774249198	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs777027944	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs777455573	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs778742647	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs781556055	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs786200983	T>-,TT	Pathogenic	Frameshift variant, stop gained, coding sequence variant
rs794727092	G>C,T	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs796052021	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs796052022	A>-	Pathogenic	Splice acceptor variant
rs796052023	TGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs797044729	->AAGATCTGCAAA	Pathogenic	Inframe insertion, coding sequence variant
rs879253813	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs879253814	T>C	Pathogenic-likely-pathogenic	Splice donor variant
rs879253815	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs879253816	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs886044246	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1021206121	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1196443543	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1249235758	CTTTCT>-	Pathogenic	Intron variant, genic downstream transcript variant, downstream transcript variant
rs1292452485	T>C,G	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1304714042	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1317017233	G>A,T	Likely-pathogenic	Splice donor variant
rs1353971489	TTG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1385850128	G>T	Pathogenic	Splice donor variant
rs1391142709	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553774015	A>G	Likely-pathogenic	Splice acceptor variant
rs1553774018	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553774884	G>-,GG,GGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553777571	->GG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553777590	G>C	Likely-pathogenic	Splice donor variant
rs1553778912	G>A	Likely-pathogenic	Splice donor variant
rs1553778914	T>A,G	Likely-pathogenic	Splice donor variant
rs1553779458	G>C	Likely-pathogenic	Splice donor variant
rs1553780163	A>G	Likely-pathogenic	Splice acceptor variant
rs1553782747	A>C	Likely-pathogenic	Splice acceptor variant
rs1553782779	T>C	Likely-pathogenic	Splice donor variant
rs1553784569	->T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1553784684	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553784721	TTGCAGT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1553784921	G>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1559995259	ACTAAATTGTCTGTGATGACATCACTGAGTGATCTTTGTTCCATTGTAGGGAAA>TGCTTTGCTTGCTTTGCTTTGCTTT	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs1576327011	A>G	Pathogenic	Intron variant
rs1576337935	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576360488	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1576360539	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1576360934	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1576360976	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1576361811	->ATGT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1576397633	GCGC>CCT	Pathogenic	Frameshift variant, coding sequence variant
rs1576402832	T>C	Likely-pathogenic	Missense variant, coding sequence variant

206

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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
MIRT680722	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT680721	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT680720	hsa-miR-3174	HITS-CLIP	23706177
MIRT680719	hsa-miR-4257	HITS-CLIP	23706177
MIRT680718	hsa-miR-1827	HITS-CLIP	23706177
MIRT680717	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT680716	hsa-miR-6086	HITS-CLIP	23706177
MIRT680715	hsa-miR-4785	HITS-CLIP	23706177
MIRT680714	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT680713	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT680712	hsa-miR-3612	HITS-CLIP	23706177
MIRT680711	hsa-miR-650	HITS-CLIP	23706177
MIRT680710	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT680709	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT676348	hsa-miR-455-5p	HITS-CLIP	23824327
MIRT676347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676346	hsa-miR-4324	HITS-CLIP	23824327
MIRT676345	hsa-miR-544b	HITS-CLIP	23824327
MIRT676344	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676343	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676342	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676341	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676340	hsa-miR-1976	HITS-CLIP	23824327
MIRT676339	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT676338	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT676337	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT676336	hsa-miR-612	HITS-CLIP	23824327
MIRT676335	hsa-miR-6860	HITS-CLIP	23824327
MIRT676334	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT676333	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT676332	hsa-miR-3945	HITS-CLIP	23824327
MIRT676331	hsa-miR-4253	HITS-CLIP	23824327
MIRT676330	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT676326	hsa-miR-1200	HITS-CLIP	23824327
MIRT676325	hsa-miR-4279	HITS-CLIP	23824327
MIRT676323	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT679008	hsa-miR-498	HITS-CLIP	23824327
MIRT676348	hsa-miR-455-5p	HITS-CLIP	23824327
MIRT676347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676346	hsa-miR-4324	HITS-CLIP	23824327
MIRT676345	hsa-miR-544b	HITS-CLIP	23824327
MIRT676344	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676343	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676342	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676341	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676340	hsa-miR-1976	HITS-CLIP	23824327
MIRT676339	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT676338	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT676337	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT676336	hsa-miR-612	HITS-CLIP	23824327
MIRT676335	hsa-miR-6860	HITS-CLIP	23824327
MIRT676334	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT676333	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT676332	hsa-miR-3945	HITS-CLIP	23824327
MIRT676331	hsa-miR-4253	HITS-CLIP	23824327
MIRT676330	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT676329	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT676328	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT676327	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT676326	hsa-miR-1200	HITS-CLIP	23824327
MIRT676325	hsa-miR-4279	HITS-CLIP	23824327
MIRT676323	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT676324	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT676322	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT566490	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT566490	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT566489	hsa-miR-506-3p	PAR-CLIP	20371350
MIRT566486	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT566488	hsa-miR-4311	PAR-CLIP	20371350
MIRT452644	hsa-miR-3714	PAR-CLIP	20371350
MIRT566487	hsa-miR-3910	PAR-CLIP	20371350
MIRT566486	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT566485	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT566484	hsa-miR-7161-3p	PAR-CLIP	20371350
MIRT566483	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT566482	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT452645	hsa-miR-548an	PAR-CLIP	23592263
MIRT452644	hsa-miR-3714	PAR-CLIP	23592263
MIRT452643	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT452642	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT452641	hsa-miR-940	PAR-CLIP	23592263
MIRT452640	hsa-miR-4790-3p	PAR-CLIP	23592263
MIRT452639	hsa-miR-3166	PAR-CLIP	23592263
MIRT452638	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT452637	hsa-miR-4764-5p	PAR-CLIP	23592263
MIRT452635	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT452636	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT452634	hsa-miR-1257	PAR-CLIP	23592263
MIRT452633	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT680718	hsa-miR-1827	PAR-CLIP	26701625
MIRT680722	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT680714	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT680720	hsa-miR-3174	PAR-CLIP	26701625
MIRT680712	hsa-miR-3612	PAR-CLIP	26701625
MIRT680717	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT680719	hsa-miR-4257	PAR-CLIP	26701625
MIRT680710	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT680715	hsa-miR-4785	PAR-CLIP	26701625
MIRT680716	hsa-miR-6086	PAR-CLIP	26701625
MIRT680713	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT680711	hsa-miR-650	PAR-CLIP	26701625
MIRT680721	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT680709	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT680722	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT680721	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT680720	hsa-miR-3174	HITS-CLIP	23706177
MIRT680719	hsa-miR-4257	HITS-CLIP	23706177
MIRT680718	hsa-miR-1827	HITS-CLIP	23706177
MIRT680717	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT680716	hsa-miR-6086	HITS-CLIP	23706177
MIRT680715	hsa-miR-4785	HITS-CLIP	23706177
MIRT680714	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT680713	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT680712	hsa-miR-3612	HITS-CLIP	23706177
MIRT680711	hsa-miR-650	HITS-CLIP	23706177
MIRT680710	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT680709	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT676348	hsa-miR-455-5p	HITS-CLIP	23824327
MIRT676347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676346	hsa-miR-4324	HITS-CLIP	23824327
MIRT676345	hsa-miR-544b	HITS-CLIP	23824327
MIRT676344	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676343	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676342	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676341	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676340	hsa-miR-1976	HITS-CLIP	23824327
MIRT676339	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT676338	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT676337	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT676336	hsa-miR-612	HITS-CLIP	23824327
MIRT676335	hsa-miR-6860	HITS-CLIP	23824327
MIRT676334	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT676333	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT676332	hsa-miR-3945	HITS-CLIP	23824327
MIRT676331	hsa-miR-4253	HITS-CLIP	23824327
MIRT676330	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT676326	hsa-miR-1200	HITS-CLIP	23824327
MIRT676325	hsa-miR-4279	HITS-CLIP	23824327
MIRT676323	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT679008	hsa-miR-498	HITS-CLIP	23824327
MIRT676348	hsa-miR-455-5p	HITS-CLIP	23824327
MIRT676347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676346	hsa-miR-4324	HITS-CLIP	23824327
MIRT676345	hsa-miR-544b	HITS-CLIP	23824327
MIRT676344	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676343	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676342	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676341	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676340	hsa-miR-1976	HITS-CLIP	23824327
MIRT676339	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT676338	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT676337	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT676336	hsa-miR-612	HITS-CLIP	23824327
MIRT676335	hsa-miR-6860	HITS-CLIP	23824327
MIRT676334	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT676333	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT676332	hsa-miR-3945	HITS-CLIP	23824327
MIRT676331	hsa-miR-4253	HITS-CLIP	23824327
MIRT676330	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT676329	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT676328	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT676327	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT676326	hsa-miR-1200	HITS-CLIP	23824327
MIRT676325	hsa-miR-4279	HITS-CLIP	23824327
MIRT676323	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT676324	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT676322	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT566490	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT566490	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT566489	hsa-miR-506-3p	PAR-CLIP	20371350
MIRT566486	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT566488	hsa-miR-4311	PAR-CLIP	20371350
MIRT452644	hsa-miR-3714	PAR-CLIP	20371350
MIRT566487	hsa-miR-3910	PAR-CLIP	20371350
MIRT566486	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT566485	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT566484	hsa-miR-7161-3p	PAR-CLIP	20371350
MIRT566483	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT566482	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT452645	hsa-miR-548an	PAR-CLIP	23592263
MIRT452644	hsa-miR-3714	PAR-CLIP	23592263
MIRT452643	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT452642	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT452641	hsa-miR-940	PAR-CLIP	23592263
MIRT452640	hsa-miR-4790-3p	PAR-CLIP	23592263
MIRT452639	hsa-miR-3166	PAR-CLIP	23592263
MIRT452638	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT452637	hsa-miR-4764-5p	PAR-CLIP	23592263
MIRT452635	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT452636	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT452634	hsa-miR-1257	PAR-CLIP	23592263
MIRT452633	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT1216559	hsa-miR-1324	CLIP-seq
MIRT1216560	hsa-miR-4645-3p	CLIP-seq
MIRT1216559	hsa-miR-1324	CLIP-seq
MIRT2290925	hsa-miR-4277	CLIP-seq
MIRT2290926	hsa-miR-433	CLIP-seq
MIRT1216560	hsa-miR-4645-3p	CLIP-seq
MIRT2290927	hsa-miR-4760-3p	CLIP-seq
MIRT2290928	hsa-miR-518a-5p	CLIP-seq
MIRT2290929	hsa-miR-527	CLIP-seq

Show/Hide all (21)

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
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8188292
GO:0005759	Component	Mitochondrial matrix	IDA	16023992
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	29033250
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006631	Process	Fatty acid metabolic process	NAS	29033250
GO:0009062	Process	Fatty acid catabolic process	IEA
GO:0009081	Process	Branched-chain amino acid metabolic process	NAS	29033250
GO:0016874	Function	Ligase activity	IEA
GO:0019626	Process	Short-chain fatty acid catabolic process	IC	6765947
GO:1902494	Component	Catalytic complex	IPI	20725044

MIM	HGNC	e!Ensembl
232050	8654	ENSG00000114054

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

MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHK
RGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVY
VFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIF
LRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVT
QEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVP
ELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPK
VASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFA
EATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVE
AAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL

Sequence length

539

Interactions

View interactions

	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

1161

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Pathogenic	rs186031457	RCV001814133
PCCB-related disorder	Pathogenic; Likely pathogenic	rs786200983, rs749509618, rs780837200, rs397507445, rs202247823, rs1349202366	RCV004752762 RCV003395512 RCV003418067 RCV003398582 RCV004752730 RCV003413821
Propionic acidemia	Pathogenic; Likely pathogenic	rs398123462, rs2108127602, rs2108127935, rs1481849460, rs759098964, rs2108197348, rs2108237867, rs2108238365, rs2108239069, rs1317123493, rs1941792728, rs2108146606, rs2108237854, rs2108146780, rs2108208811 View all (190 more)	RCV001378948 RCV001381993 RCV001384996 RCV001390315 RCV001388863 RCV001389822 RCV001384626 RCV001386196 RCV001389857 RCV001384627 RCV001532936 RCV001784801 RCV001784802 RCV001782574 RCV001806836 RCV001808143 RCV002004349 RCV001923215 RCV002012814 RCV002027633 RCV001917556 RCV001970118 RCV001942359 RCV001955875 RCV002005208 RCV001949228 RCV001887552 RCV001976657 RCV001986014 RCV001993127 RCV002007145 RCV001974202 RCV001990112 RCV001949114 RCV001951179 RCV001953623 RCV002006356 RCV001975047 RCV001956511 RCV001978640 RCV001916398 RCV002222970 RCV002251221 RCV002281827 RCV000173704 RCV002308622 RCV002306671 RCV002309769 RCV002308182 RCV002309092 RCV002309375 RCV002306863 RCV002307191 RCV002307338 RCV002310568 RCV003075163 RCV003061546 RCV000174489 RCV002651748 RCV002651751 RCV002664322 RCV000179767 RCV002578427 RCV000984290 RCV001293409 RCV000341685 RCV002646825 RCV002725580 RCV002715175 RCV002736137 RCV002711764 RCV002796414 RCV002839213 RCV002852807 RCV002880913 RCV002862696 RCV002858392 RCV002885338 RCV002948401 RCV002995896 RCV000236355 RCV000236940 RCV000236206 RCV000235547 RCV000237038 RCV000235647 RCV003010333 RCV003031598 RCV003045260 RCV003055258 RCV000490483 RCV003131141 RCV003226685 RCV003226686 RCV000613658 RCV000012791 RCV000012792 RCV000012794 RCV000012795 RCV000012796 RCV000012797 RCV000012798 RCV000012799 RCV000353159 RCV003463227 RCV003463228 RCV003463229 RCV003463230 RCV003463231 RCV003471657 RCV003463232 RCV003471658 RCV003471659 RCV003463233 RCV003463234 RCV003471660 RCV003476662 RCV003512332 RCV003512288 RCV003513593 RCV000321726 RCV003511578 RCV003511741 RCV003511748 RCV003511807 RCV003511943 RCV003512615 RCV003512528 RCV003624616 RCV003624617 RCV003624588 RCV003624696 RCV003624735 RCV003625261 RCV003625405 RCV003625706 RCV003625988 RCV003623996 RCV003623956 RCV003624192 RCV003625011 RCV003625042 RCV003625004 RCV003828771 RCV003842880 RCV003989001 RCV003990676 RCV003989341 RCV004547404 RCV004574459 RCV004574460 RCV004574461 RCV004574462 RCV004574463 RCV000531347 RCV000032124 RCV000032127 RCV000032128 RCV000032129 RCV000032130 RCV000032132 RCV000032133 RCV000667421 RCV000668811 RCV000671247 RCV000673821 RCV000673046 RCV000670425 RCV000674427 RCV000674584 RCV000669264 RCV000672023 RCV000665006 RCV000673514 RCV000666130 RCV000672362 RCV000673118 RCV000667695 RCV000673464 RCV000667545 RCV000673483 RCV000671409 RCV000667712 RCV000674578 RCV000673131 RCV000673161 RCV000673510 RCV000672128 RCV000670133 RCV000674212 RCV000668574 RCV000673426 RCV000687152 RCV000761464 RCV000790497 RCV000790498 RCV000790499 RCV000790500 RCV000790501 RCV000790502 RCV000790504 RCV000790505 RCV000790506 RCV000790503 RCV000824455 RCV000816134 RCV000799168 RCV000987338 RCV000987339 RCV001040406 RCV001055500 RCV001037425 RCV001053931 RCV001192546 RCV001214667 RCV001215763 RCV001210720 RCV001208742 RCV001227507 RCV001235194 RCV001257444 RCV002222691 RCV004766478 RCV002515758 RCV001247908 RCV001203595

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Conflicting classifications of pathogenicity	rs142730126, rs199886085	RCV005897603 RCV005900152
Global developmental delay	Conflicting classifications of pathogenicity	rs145628302, rs180982841	RCV000626699 RCV000626700
Hyperammonemia	Conflicting classifications of pathogenicity	rs145628302, rs180982841	RCV000626699 RCV000626700
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs145135400	RCV005626279
Lung cancer	Likely benign	rs113081595	RCV005914793
Malignant tumor of esophagus	Likely benign	rs113081595	RCV005914792
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs199886085	RCV005900153
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs142730126	RCV005897604
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs142730126	RCV005897605

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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 View all (7 more)
Propionic Acidemia	Inhibit	19238581, 26740382, 3687944, 6614005, 8023851

PCCB (propionyl-CoA carboxylase subunit beta)