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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Pathogenic	rs186031457	RCV001814133	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PCCB-related disorder	Pathogenic; Likely pathogenic	rs786200983, rs749509618, rs780837200, rs397507445, rs202247823, rs1349202366	RCV004752762 RCV003395512 RCV003418067 RCV003398582 RCV004752730 RCV003413821 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (221 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMINO ACID METABOLISM, INBORN ERRORS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperammonemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute encephalopathy	Encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9311592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	22334403, 27227689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32490597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	19238581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28853722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	9311592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERGLYCINURIA (disorder)	Hyperglycinuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	8188292, 9683601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	17966092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32490597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	Pontoneocerebellar hypoplasia	BEFREE	3687944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Propionic acidemia	Propionic acidemia	BEFREE	10101253, 10353789, 10447268, 10502773, 12757933, 15059621, 15949719, 19157943, 19238581, 21094621, 21125326, 22334403, 2249848, 25865301, 26740382 View all (11 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	UNIPROT_DG	10447268, 11749052, 12189489, 12559849, 15059621, 15890657, 2154743, 8411997, 9683601		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	CLINVAR_DG	10780784, 11136555, 11749052, 12007220, 12189489, 12409268, 12559849, 12757933, 12888983, 15059621, 15464417, 15890657, 15949719, 17415538, 19238581 View all (25 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	GENOMICS_ENGLAND_DG	27604308, 30014764		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Schizophrenia	BEFREE	28111843		★★★★★ ★☆☆☆☆ Found in Text Mining only

PCCB (propionyl-CoA carboxylase subunit beta)