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	5828
Gene name	Peroxisomal biogenesis factor 2
Gene symbol	PEX2
Synonyms (NCBI Gene)	PAF1PBD5APBD5BPMP3PMP35PXMP3RNF72ZWS3
Chromosome	8
Chromosome location	8q21.13
Summary	This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35689779	T>C	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61752119	C>T	Pathogenic	Coding sequence variant, missense variant
rs61752122	TCTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs61752123	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs61752124	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs61752127	C>T	Pathogenic	Coding sequence variant, stop gained
rs61752128	A>G	Pathogenic	Coding sequence variant, missense variant
rs63545361	A>-	Benign, pathogenic	Coding sequence variant, frameshift variant, missense variant
rs142645936	A>C,G	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146354196	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150734057	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200065382	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs267608188	AAGTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs367649632	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs375401977	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376101275	T>A,C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs724160029	->T	Pathogenic	Frameshift variant, coding sequence variant
rs764771123	TGCCACC>-	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs764785488	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886039481	C>T	Pathogenic	Coding sequence variant, missense variant
rs1235008965	->T	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1438831421	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554584474	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554584487	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554584505	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586069639	A>T	Pathogenic	Coding sequence variant, stop gained
rs1586070043	G>A	Pathogenic	Coding sequence variant, stop gained
rs1586070089	T>-	Pathogenic	Coding sequence variant, frameshift variant

308

Show/Hide all (308)

miRTarBase ID	miRNA	Experiments	Reference
MIRT674959	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT674958	hsa-miR-889-5p	HITS-CLIP	23824327
MIRT674957	hsa-miR-135a-5p	HITS-CLIP	23824327
MIRT674956	hsa-miR-135b-5p	HITS-CLIP	23824327
MIRT674955	hsa-miR-5693	HITS-CLIP	23824327
MIRT674954	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT674953	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT674952	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT674951	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT674950	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT674949	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT674948	hsa-miR-4284	HITS-CLIP	23824327
MIRT674947	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT674945	hsa-miR-3652	HITS-CLIP	23824327
MIRT674946	hsa-miR-4430	HITS-CLIP	23824327
MIRT674944	hsa-miR-4505	HITS-CLIP	23824327
MIRT674943	hsa-miR-5787	HITS-CLIP	23824327
MIRT674942	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT674941	hsa-miR-8074	HITS-CLIP	23824327
MIRT674940	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT674939	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT674938	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT674937	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT542031	hsa-miR-3609	PAR-CLIP	21572407
MIRT542030	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT542029	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT542028	hsa-miR-520h	PAR-CLIP	21572407
MIRT542027	hsa-miR-3065-5p	PAR-CLIP	21572407
MIRT542026	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542024	hsa-miR-6072	PAR-CLIP	21572407
MIRT542025	hsa-miR-6891-3p	PAR-CLIP	21572407
MIRT542023	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542022	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT542021	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT542020	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT542019	hsa-miR-612	PAR-CLIP	21572407
MIRT542018	hsa-miR-6860	PAR-CLIP	21572407
MIRT542017	hsa-miR-4786-5p	PAR-CLIP	21572407
MIRT542016	hsa-miR-769-5p	PAR-CLIP	21572407
MIRT542015	hsa-miR-661	PAR-CLIP	21572407
MIRT542014	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT446328	hsa-miR-548ag	PAR-CLIP	22100165
MIRT446327	hsa-miR-548ai	PAR-CLIP	22100165
MIRT446326	hsa-miR-548ba	PAR-CLIP	22100165
MIRT446325	hsa-miR-570-5p	PAR-CLIP	22100165
MIRT446323	hsa-miR-8060	PAR-CLIP	22100165
MIRT446324	hsa-miR-493-3p	PAR-CLIP	22100165
MIRT441948	hsa-miR-4318	PAR-CLIP	22100165
MIRT441947	hsa-miR-142-5p	PAR-CLIP	22100165
MIRT441945	hsa-miR-5590-3p	PAR-CLIP	22100165
MIRT441946	hsa-miR-4427	PAR-CLIP	22100165
MIRT441944	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT441943	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT441942	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT441941	hsa-miR-4762-3p	PAR-CLIP	22100165
MIRT441948	hsa-miR-4318	PAR-CLIP	22100165
MIRT441947	hsa-miR-142-5p	PAR-CLIP	22100165
MIRT441945	hsa-miR-5590-3p	PAR-CLIP	22100165
MIRT441946	hsa-miR-4427	PAR-CLIP	22100165
MIRT441944	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT441943	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT441942	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT441941	hsa-miR-4762-3p	PAR-CLIP	22100165
MIRT674959	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT674958	hsa-miR-889-5p	HITS-CLIP	23824327
MIRT674957	hsa-miR-135a-5p	HITS-CLIP	23824327
MIRT674956	hsa-miR-135b-5p	HITS-CLIP	23824327
MIRT674955	hsa-miR-5693	HITS-CLIP	23824327
MIRT674954	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT674953	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT674952	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT674951	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT674950	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT674949	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT674948	hsa-miR-4284	HITS-CLIP	23824327
MIRT674947	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT674945	hsa-miR-3652	HITS-CLIP	23824327
MIRT674946	hsa-miR-4430	HITS-CLIP	23824327
MIRT674944	hsa-miR-4505	HITS-CLIP	23824327
MIRT674943	hsa-miR-5787	HITS-CLIP	23824327
MIRT674942	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT674941	hsa-miR-8074	HITS-CLIP	23824327
MIRT674940	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT674939	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT674938	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT674937	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT542031	hsa-miR-3609	PAR-CLIP	21572407
MIRT542030	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT542029	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT542028	hsa-miR-520h	PAR-CLIP	21572407
MIRT542027	hsa-miR-3065-5p	PAR-CLIP	21572407
MIRT542026	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542024	hsa-miR-6072	PAR-CLIP	21572407
MIRT542025	hsa-miR-6891-3p	PAR-CLIP	21572407
MIRT542023	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542022	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT542021	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT542020	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT542019	hsa-miR-612	PAR-CLIP	21572407
MIRT542018	hsa-miR-6860	PAR-CLIP	21572407
MIRT542017	hsa-miR-4786-5p	PAR-CLIP	21572407
MIRT542016	hsa-miR-769-5p	PAR-CLIP	21572407
MIRT542015	hsa-miR-661	PAR-CLIP	21572407
MIRT542014	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT446328	hsa-miR-548ag	PAR-CLIP	22100165
MIRT446327	hsa-miR-548ai	PAR-CLIP	22100165
MIRT446326	hsa-miR-548ba	PAR-CLIP	22100165
MIRT446325	hsa-miR-570-5p	PAR-CLIP	22100165
MIRT446323	hsa-miR-8060	PAR-CLIP	22100165
MIRT446324	hsa-miR-493-3p	PAR-CLIP	22100165
MIRT441948	hsa-miR-4318	PAR-CLIP	22100165
MIRT441947	hsa-miR-142-5p	PAR-CLIP	22100165
MIRT441945	hsa-miR-5590-3p	PAR-CLIP	22100165
MIRT441946	hsa-miR-4427	PAR-CLIP	22100165
MIRT441944	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT441943	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT441942	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT441941	hsa-miR-4762-3p	PAR-CLIP	22100165
MIRT441948	hsa-miR-4318	PAR-CLIP	22100165
MIRT441947	hsa-miR-142-5p	PAR-CLIP	22100165
MIRT441945	hsa-miR-5590-3p	PAR-CLIP	22100165
MIRT441946	hsa-miR-4427	PAR-CLIP	22100165
MIRT441944	hsa-miR-5187-3p	PAR-CLIP	22100165
MIRT441943	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT441942	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT441941	hsa-miR-4762-3p	PAR-CLIP	22100165
MIRT1225806	hsa-miR-1202	CLIP-seq
MIRT1225807	hsa-miR-1207-3p	CLIP-seq
MIRT1225808	hsa-miR-1253	CLIP-seq
MIRT1225809	hsa-miR-1254	CLIP-seq
MIRT1225810	hsa-miR-1273e	CLIP-seq
MIRT1225811	hsa-miR-1279	CLIP-seq
MIRT1225812	hsa-miR-1285	CLIP-seq
MIRT1225813	hsa-miR-1827	CLIP-seq
MIRT1225814	hsa-miR-200b	CLIP-seq
MIRT1225815	hsa-miR-200c	CLIP-seq
MIRT1225816	hsa-miR-23a	CLIP-seq
MIRT1225817	hsa-miR-23b	CLIP-seq
MIRT1225818	hsa-miR-23c	CLIP-seq
MIRT1225819	hsa-miR-28-5p	CLIP-seq
MIRT1225820	hsa-miR-2964a-3p	CLIP-seq
MIRT1225821	hsa-miR-302f	CLIP-seq
MIRT1225822	hsa-miR-3116	CLIP-seq
MIRT1225823	hsa-miR-3120-3p	CLIP-seq
MIRT1225824	hsa-miR-3139	CLIP-seq
MIRT1225825	hsa-miR-3194-5p	CLIP-seq
MIRT1225826	hsa-miR-3647-3p	CLIP-seq
MIRT1225827	hsa-miR-3677-5p	CLIP-seq
MIRT1225828	hsa-miR-378	CLIP-seq
MIRT1225829	hsa-miR-378b	CLIP-seq
MIRT1225830	hsa-miR-378c	CLIP-seq
MIRT1225831	hsa-miR-378d	CLIP-seq
MIRT1225832	hsa-miR-378e	CLIP-seq
MIRT1225833	hsa-miR-378f	CLIP-seq
MIRT1225834	hsa-miR-378h	CLIP-seq
MIRT1225835	hsa-miR-378i	CLIP-seq
MIRT1225836	hsa-miR-3929	CLIP-seq
MIRT1225837	hsa-miR-3972	CLIP-seq
MIRT1225838	hsa-miR-3978	CLIP-seq
MIRT1225839	hsa-miR-412	CLIP-seq
MIRT1225840	hsa-miR-422a	CLIP-seq
MIRT1225841	hsa-miR-429	CLIP-seq
MIRT1225842	hsa-miR-4419b	CLIP-seq
MIRT1225843	hsa-miR-4428	CLIP-seq
MIRT1225844	hsa-miR-4434	CLIP-seq
MIRT1225845	hsa-miR-4478	CLIP-seq
MIRT1225846	hsa-miR-4516	CLIP-seq
MIRT1225847	hsa-miR-4649-3p	CLIP-seq
MIRT1225848	hsa-miR-4680-5p	CLIP-seq
MIRT1225849	hsa-miR-4704-3p	CLIP-seq
MIRT1225850	hsa-miR-4714-5p	CLIP-seq
MIRT1225851	hsa-miR-4722-5p	CLIP-seq
MIRT1225852	hsa-miR-4766-5p	CLIP-seq
MIRT1225853	hsa-miR-4768-3p	CLIP-seq
MIRT1225854	hsa-miR-485-5p	CLIP-seq
MIRT1225855	hsa-miR-487a	CLIP-seq
MIRT1225856	hsa-miR-505	CLIP-seq
MIRT1225857	hsa-miR-520g	CLIP-seq
MIRT1225858	hsa-miR-545	CLIP-seq
MIRT1225859	hsa-miR-548ah	CLIP-seq
MIRT1225860	hsa-miR-549	CLIP-seq
MIRT1225861	hsa-miR-656	CLIP-seq
MIRT1225862	hsa-miR-708	CLIP-seq
MIRT1225863	hsa-miR-759	CLIP-seq
MIRT1225864	hsa-miR-875-3p	CLIP-seq
MIRT1225865	hsa-miR-940	CLIP-seq
MIRT1225866	hsa-miR-1245b-3p	CLIP-seq
MIRT1225867	hsa-miR-1283	CLIP-seq
MIRT1225812	hsa-miR-1285	CLIP-seq
MIRT1225868	hsa-miR-186	CLIP-seq
MIRT1225869	hsa-miR-218	CLIP-seq
MIRT1225870	hsa-miR-2276	CLIP-seq
MIRT1225871	hsa-miR-24	CLIP-seq
MIRT1225872	hsa-miR-2467-5p	CLIP-seq
MIRT1225873	hsa-miR-3133	CLIP-seq
MIRT1225874	hsa-miR-3675-3p	CLIP-seq
MIRT1225875	hsa-miR-3689a-3p	CLIP-seq
MIRT1225876	hsa-miR-3689c	CLIP-seq
MIRT1225877	hsa-miR-4289	CLIP-seq
MIRT1225878	hsa-miR-4330	CLIP-seq
MIRT1225879	hsa-miR-4438	CLIP-seq
MIRT1225880	hsa-miR-4662a-5p	CLIP-seq
MIRT1225881	hsa-miR-4684-5p	CLIP-seq
MIRT1225882	hsa-miR-4728-5p	CLIP-seq
MIRT1225883	hsa-miR-4772-3p	CLIP-seq
MIRT1225884	hsa-miR-5095	CLIP-seq
MIRT1225857	hsa-miR-520g	CLIP-seq
MIRT1225859	hsa-miR-548ah	CLIP-seq
MIRT1225885	hsa-miR-548c-3p	CLIP-seq
MIRT1225886	hsa-miR-891b	CLIP-seq
MIRT1225887	hsa-miR-941	CLIP-seq
MIRT2065968	hsa-miR-128	CLIP-seq
MIRT1225871	hsa-miR-24	CLIP-seq
MIRT2065969	hsa-miR-2861	CLIP-seq
MIRT2065970	hsa-miR-4281	CLIP-seq
MIRT1225886	hsa-miR-891b	CLIP-seq
MIRT1225866	hsa-miR-1245b-3p	CLIP-seq
MIRT1225809	hsa-miR-1254	CLIP-seq
MIRT1225812	hsa-miR-1285	CLIP-seq
MIRT1225871	hsa-miR-24	CLIP-seq
MIRT1225872	hsa-miR-2467-5p	CLIP-seq
MIRT1225822	hsa-miR-3116	CLIP-seq
MIRT2293635	hsa-miR-3622a-3p	CLIP-seq
MIRT2293636	hsa-miR-3622b-3p	CLIP-seq
MIRT1225874	hsa-miR-3675-3p	CLIP-seq
MIRT1225875	hsa-miR-3689a-3p	CLIP-seq
MIRT1225876	hsa-miR-3689c	CLIP-seq
MIRT1225878	hsa-miR-4330	CLIP-seq
MIRT1225881	hsa-miR-4684-5p	CLIP-seq
MIRT1225849	hsa-miR-4704-3p	CLIP-seq
MIRT1225882	hsa-miR-4728-5p	CLIP-seq
MIRT2293637	hsa-miR-4760-5p	CLIP-seq
MIRT1225857	hsa-miR-520g	CLIP-seq
MIRT1225859	hsa-miR-548ah	CLIP-seq
MIRT1225886	hsa-miR-891b	CLIP-seq
MIRT1225885	hsa-miR-548c-3p	CLIP-seq
MIRT2065968	hsa-miR-128	CLIP-seq
MIRT2591693	hsa-miR-3143	CLIP-seq
MIRT2591694	hsa-miR-320a	CLIP-seq
MIRT2591695	hsa-miR-320b	CLIP-seq
MIRT2591696	hsa-miR-320c	CLIP-seq
MIRT2591697	hsa-miR-320d	CLIP-seq
MIRT2591698	hsa-miR-323-3p	CLIP-seq
MIRT2591699	hsa-miR-3622b-5p	CLIP-seq
MIRT2591700	hsa-miR-3667-5p	CLIP-seq
MIRT1225874	hsa-miR-3675-3p	CLIP-seq
MIRT2591701	hsa-miR-369-3p	CLIP-seq
MIRT2591702	hsa-miR-374c	CLIP-seq
MIRT2591703	hsa-miR-3938	CLIP-seq
MIRT2591704	hsa-miR-4253	CLIP-seq
MIRT2591705	hsa-miR-4429	CLIP-seq
MIRT1225881	hsa-miR-4684-5p	CLIP-seq
MIRT2591706	hsa-miR-4717-3p	CLIP-seq
MIRT2591707	hsa-miR-4744	CLIP-seq
MIRT2591708	hsa-miR-4803	CLIP-seq
MIRT2591709	hsa-miR-489	CLIP-seq
MIRT2591710	hsa-miR-491-3p	CLIP-seq
MIRT2591711	hsa-miR-501-3p	CLIP-seq
MIRT2591712	hsa-miR-502-3p	CLIP-seq
MIRT2591713	hsa-miR-526b	CLIP-seq
MIRT2591714	hsa-miR-543	CLIP-seq
MIRT2591715	hsa-miR-548a-3p	CLIP-seq
MIRT1225885	hsa-miR-548c-3p	CLIP-seq
MIRT2591716	hsa-miR-548e	CLIP-seq
MIRT2591717	hsa-miR-548f	CLIP-seq
MIRT2591718	hsa-miR-548u	CLIP-seq
MIRT2591719	hsa-miR-655	CLIP-seq
MIRT2591720	hsa-miR-885-5p	CLIP-seq
MIRT1225887	hsa-miR-941	CLIP-seq
MIRT2065968	hsa-miR-128	CLIP-seq
MIRT1225867	hsa-miR-1283	CLIP-seq
MIRT2687634	hsa-miR-145	CLIP-seq
MIRT2687635	hsa-miR-1825	CLIP-seq
MIRT2687636	hsa-miR-199a-5p	CLIP-seq
MIRT2687637	hsa-miR-199b-5p	CLIP-seq
MIRT2591693	hsa-miR-3143	CLIP-seq
MIRT2687638	hsa-miR-3180-5p	CLIP-seq
MIRT2591694	hsa-miR-320a	CLIP-seq
MIRT2591695	hsa-miR-320b	CLIP-seq
MIRT2591696	hsa-miR-320c	CLIP-seq
MIRT2591697	hsa-miR-320d	CLIP-seq
MIRT2591698	hsa-miR-323-3p	CLIP-seq
MIRT2591699	hsa-miR-3622b-5p	CLIP-seq
MIRT2591700	hsa-miR-3667-5p	CLIP-seq
MIRT1225874	hsa-miR-3675-3p	CLIP-seq
MIRT2591701	hsa-miR-369-3p	CLIP-seq
MIRT2591702	hsa-miR-374c	CLIP-seq
MIRT2591703	hsa-miR-3938	CLIP-seq
MIRT2591704	hsa-miR-4253	CLIP-seq
MIRT2591705	hsa-miR-4429	CLIP-seq
MIRT1225881	hsa-miR-4684-5p	CLIP-seq
MIRT2591706	hsa-miR-4717-3p	CLIP-seq
MIRT2591707	hsa-miR-4744	CLIP-seq
MIRT1225853	hsa-miR-4768-3p	CLIP-seq
MIRT2591708	hsa-miR-4803	CLIP-seq
MIRT2591709	hsa-miR-489	CLIP-seq
MIRT2591710	hsa-miR-491-3p	CLIP-seq
MIRT2591711	hsa-miR-501-3p	CLIP-seq
MIRT2591712	hsa-miR-502-3p	CLIP-seq
MIRT1225857	hsa-miR-520g	CLIP-seq
MIRT2591713	hsa-miR-526b	CLIP-seq
MIRT2591714	hsa-miR-543	CLIP-seq
MIRT1225859	hsa-miR-548ah	CLIP-seq
MIRT1225885	hsa-miR-548c-3p	CLIP-seq
MIRT2591718	hsa-miR-548u	CLIP-seq
MIRT2591719	hsa-miR-655	CLIP-seq
MIRT2591720	hsa-miR-885-5p	CLIP-seq
MIRT1225887	hsa-miR-941	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IBA
GO:0000038	Process	Very long-chain fatty acid metabolic process	IMP	9765053
GO:0000425	Process	Pexophagy	IDA	26344566
GO:0000425	Process	Pexophagy	IDA	26344566, 27597759
GO:0005515	Function	Protein binding	IPI	10837480, 11590176, 20531392, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	12751901
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	IMP	12751901
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006513	Process	Protein monoubiquitination	IDA	27597759
GO:0006513	Process	Protein monoubiquitination	IDA	27597759
GO:0006513	Process	Protein monoubiquitination	ISS	35768507
GO:0006513	Process	Protein monoubiquitination	ISS	35768507
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IMP	9765053, 10528859
GO:0007031	Process	Peroxisome organization	IBA
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	1546315, 9765053
GO:0008270	Function	Zinc ion binding	IEA
GO:0008320	Function	Protein transmembrane transporter activity	ISS	35768507
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IDA	21976670
GO:0016558	Process	Protein import into peroxisome matrix	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IMP	10528859
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980, 19208625
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	24662292
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016593	Component	Cdc73/Paf1 complex	IBA
GO:0016593	Component	Cdc73/Paf1 complex	IDA	18987311
GO:0016740	Function	Transferase activity	IEA
GO:0031648	Process	Protein destabilization	IMP	18987311
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	IDA	26344566
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS	35768507
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS	35768507
GO:0046872	Function	Metal ion binding	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	18987311
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	18987311
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	27597759, 34903883
GO:0061630	Function	Ubiquitin protein ligase activity	ISS	35768507
GO:1990928	Process	Response to amino acid starvation	IDA	27597759

MIM	HGNC	e!Ensembl
170993	9717	ENSG00000164751

P28328

Protein name

Peroxisome biogenesis factor 2 (EC 2.3.2.27) (EC 2.3.2.36) (35 kDa peroxisomal membrane protein) (Peroxin-2) (Peroxisomal membrane protein 3) (Peroxisome assembly factor 1) (PAF-1) (RING finger protein 72)

Protein function

E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04757	Pex2_Pex12	26 → 225	Pex2 / Pex12 amino terminal region	Family
PF00097	zf-C3HC4	244 → 283	Zinc finger, C3HC4 type (RING finger)	Domain

Sequence

MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACL
WVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERC
YDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKP
QNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMS
EVNAL

Sequence length

305

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		E3 ubiquitin ligases ubiquitinate target proteins Peroxisomal protein import Class I peroxisomal membrane protein import

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Peroxisome biogenesis disorder	Likely pathogenic; Pathogenic	rs61752122, rs1052655986, rs755950154, rs764771123, rs2487453776, rs61752123, rs61752119, rs1235008965, rs61752124	RCV000781714 RCV002271943 RCV002469971 RCV000587540 RCV003486513 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 5A (Zellweger)	Pathogenic; Likely pathogenic	rs61752118, rs1261498405, rs2132044757, rs2132044384, rs2132043567, rs149287302, rs2132044032, rs777974798, rs2132043667, rs61752122, rs61752128, rs1224224276, rs2132044079, rs2132043966, rs2132045027 View all (55 more)	RCV001383604 RCV001385405 RCV001882604 RCV002568470 RCV002034605 View all (66 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 5B	Likely pathogenic; Pathogenic	rs61752122, rs61752127, rs724160029, rs755950154, rs1011185031, rs764771123, rs2487451611, rs61752123, rs61752119, rs2487453331, rs267608188, rs1554584474, rs1554584487, rs61752124, rs200065382 View all (4 more)	RCV005049426 RCV000128531 RCV000149879 RCV005042852 RCV005045264 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEX2-related disorder	Pathogenic	rs61752123	RCV004748521	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Zellweger spectrum disorders	Likely pathogenic; Pathogenic	rs61752122, rs764771123, rs61752123, rs1235008965, rs61752124, rs63545361	RCV001275875 RCV001275873 RCV001275872 RCV001275874 RCV001275871 RCV001391252 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX2 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder 1A (Zellweger)	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 5A	—	CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (84)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	27217153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27217153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	21392394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum disease	Refsum Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	BEFREE	10528859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	CTD_human_DG	10528859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27217153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	11478384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal adrenoleukodystrophy	Adrenoleukodystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 3B	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG	10528859, 14630978, 1546315, 15542397, 17041890, 21031596, 21465523, 23430938, 7681622, 9452066, 9585609		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	14630978, 1546315, 24357685, 2454948, 25655951, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)	Zellweger Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 5B	Zellweger Syndrome	CLINVAR_DG	10528859, 14630978, 1546315, 15542397, 17041890, 21031596, 21465523, 9452066		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 5B	Zellweger Syndrome	UNIPROT_DG	10528859		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 5B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	21392394, 24357685, 25655951, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 5B	Zellweger Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorders	Zellweger Syndrome	CLINVAR_DG	10528859, 14630978, 15542397, 21031596, 21465523, 23430938, 23829372, 28089346, 9585609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CTD_human_DG	10528859, 1546315		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	10528859, 21392394	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	11330042, 14630978, 8993569		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	1546315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	CTD_human_DG	1546315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	27230853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	11330042, 15868469, 23590336, 8507691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	1546315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger syndrome	Zellweger Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger-Like Syndrome	Zellweger-Like Syndrome	CTD_human_DG	1546315		★★★★★ ★☆☆☆☆ Found in Text Mining only

PEX2 (peroxisomal biogenesis factor 2)