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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4179
Gene name	CD46 molecule
Gene symbol	CD46
Synonyms (NCBI Gene)	AHUS2MCPMIC10TLXTRA2.10
Chromosome	1
Chromosome location	1q32.2
Summary	The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cel

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121909589	T>C,G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs121909590	C>T	Risk-factor	Stop gained, non coding transcript variant, coding sequence variant
rs121909591	G>A	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs146803767	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs750324925	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs769742294	T>G	Likely-pathogenic	Splice donor variant
rs886039868	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516191	TT>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1441937053	G>C	Risk-factor	Splice acceptor variant
rs1553251787	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1571588257	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571616755	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571617647	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006512	hsa-miR-520b	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT006512	hsa-miR-520b	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT006513	hsa-miR-520e	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT006513	hsa-miR-520e	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT006512	hsa-miR-520b	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT006512	hsa-miR-520b	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT006513	hsa-miR-520e	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT006513	hsa-miR-520e	ELISALuciferase reporter assayqRT-PCRWestern blot	20574151
MIRT016118	hsa-miR-421	Sequencing	20371350
MIRT016245	hsa-miR-548b-3p	Sequencing	20371350
MIRT006512	hsa-miR-520b	Reporter assay;Western blot;qRT-PCR;Other	20574151
MIRT006513	hsa-miR-520e	Reporter assay;Western blot;qRT-PCR;Other	20574151
MIRT017770	hsa-miR-335-5p	Microarray	18185580
MIRT019616	hsa-miR-340-5p	Sequencing	20371350
MIRT020079	hsa-miR-361-5p	Sequencing	20371350
MIRT021197	hsa-miR-186-5p	Sequencing	20371350
MIRT025041	hsa-miR-181a-5p	Microarray	17612493
MIRT027321	hsa-miR-101-3p	Sequencing	20371350
MIRT027651	hsa-miR-98-5p	Microarray	19088304
MIRT028018	hsa-miR-93-5p	Sequencing	20371350
MIRT031160	hsa-miR-19b-3p	Sequencing	20371350
MIRT039524	hsa-miR-652-3p	CLASH	23622248
MIRT704860	hsa-miR-888-5p	HITS-CLIP	23313552
MIRT704859	hsa-miR-3925-5p	HITS-CLIP	23313552
MIRT704858	hsa-miR-4714-3p	HITS-CLIP	23313552
MIRT704857	hsa-miR-570-3p	HITS-CLIP	23313552
MIRT704856	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT704855	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704854	hsa-miR-3122	HITS-CLIP	23313552
MIRT704853	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704852	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704851	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT184131	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT550957	hsa-miR-3646	PAR-CLIP	21572407
MIRT184130	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT550956	hsa-miR-188-5p	PAR-CLIP	21572407
MIRT550955	hsa-miR-6866-3p	PAR-CLIP	21572407
MIRT550954	hsa-miR-4698	PAR-CLIP	21572407
MIRT550953	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT184128	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT550951	hsa-miR-4780	PAR-CLIP	21572407
MIRT550952	hsa-miR-6780b-3p	PAR-CLIP	21572407
MIRT550950	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT550949	hsa-miR-4724-3p	PAR-CLIP	21572407
MIRT016118	hsa-miR-421	PAR-CLIP	21572407
MIRT550948	hsa-miR-623	PAR-CLIP	21572407
MIRT184127	hsa-miR-150-3p	PAR-CLIP	21572407
MIRT550947	hsa-miR-1263	PAR-CLIP	21572407
MIRT704860	hsa-miR-888-5p	HITS-CLIP	23313552
MIRT704859	hsa-miR-3925-5p	HITS-CLIP	23313552
MIRT704858	hsa-miR-4714-3p	HITS-CLIP	23313552
MIRT704857	hsa-miR-570-3p	HITS-CLIP	23313552
MIRT704856	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT704855	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704854	hsa-miR-3122	HITS-CLIP	23313552
MIRT704853	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704852	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704851	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT184131	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT550957	hsa-miR-3646	PAR-CLIP	21572407
MIRT184130	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT550956	hsa-miR-188-5p	PAR-CLIP	21572407
MIRT550955	hsa-miR-6866-3p	PAR-CLIP	21572407
MIRT550954	hsa-miR-4698	PAR-CLIP	21572407
MIRT550953	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT184128	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT550951	hsa-miR-4780	PAR-CLIP	21572407
MIRT550952	hsa-miR-6780b-3p	PAR-CLIP	21572407
MIRT550950	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT550949	hsa-miR-4724-3p	PAR-CLIP	21572407
MIRT016118	hsa-miR-421	PAR-CLIP	21572407
MIRT550948	hsa-miR-623	PAR-CLIP	21572407
MIRT184127	hsa-miR-150-3p	PAR-CLIP	21572407
MIRT550947	hsa-miR-1263	PAR-CLIP	21572407
MIRT031160	hsa-miR-19b-3p	Luciferase reporter assayWestern blottingqRT-PCR	37093132
MIRT875545	hsa-let-7a	CLIP-seq
MIRT875546	hsa-let-7b	CLIP-seq
MIRT875547	hsa-let-7c	CLIP-seq
MIRT875548	hsa-let-7d	CLIP-seq
MIRT875549	hsa-let-7e	CLIP-seq
MIRT875550	hsa-let-7f	CLIP-seq
MIRT875551	hsa-let-7g	CLIP-seq
MIRT875552	hsa-let-7i	CLIP-seq
MIRT875553	hsa-miR-105	CLIP-seq
MIRT875554	hsa-miR-1200	CLIP-seq
MIRT875555	hsa-miR-129-5p	CLIP-seq
MIRT875556	hsa-miR-1301	CLIP-seq
MIRT875557	hsa-miR-1303	CLIP-seq
MIRT875558	hsa-miR-134	CLIP-seq
MIRT875559	hsa-miR-135a	CLIP-seq
MIRT875560	hsa-miR-135b	CLIP-seq
MIRT875561	hsa-miR-143	CLIP-seq
MIRT875562	hsa-miR-154	CLIP-seq
MIRT875563	hsa-miR-186	CLIP-seq
MIRT875564	hsa-miR-202	CLIP-seq
MIRT875565	hsa-miR-2113	CLIP-seq
MIRT875566	hsa-miR-2116	CLIP-seq
MIRT875567	hsa-miR-218	CLIP-seq
MIRT875568	hsa-miR-3118	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875570	hsa-miR-3123	CLIP-seq
MIRT875571	hsa-miR-3128	CLIP-seq
MIRT875572	hsa-miR-3133	CLIP-seq
MIRT875573	hsa-miR-3158-3p	CLIP-seq
MIRT875574	hsa-miR-3162-5p	CLIP-seq
MIRT875575	hsa-miR-3164	CLIP-seq
MIRT875576	hsa-miR-3180-5p	CLIP-seq
MIRT875577	hsa-miR-3190	CLIP-seq
MIRT875578	hsa-miR-3200-5p	CLIP-seq
MIRT875579	hsa-miR-323b-3p	CLIP-seq
MIRT875580	hsa-miR-335	CLIP-seq
MIRT875581	hsa-miR-3545-3p	CLIP-seq
MIRT875582	hsa-miR-3607-5p	CLIP-seq
MIRT875583	hsa-miR-3609	CLIP-seq
MIRT875584	hsa-miR-3617	CLIP-seq
MIRT875585	hsa-miR-3662	CLIP-seq
MIRT875586	hsa-miR-3663-5p	CLIP-seq
MIRT875587	hsa-miR-3664-5p	CLIP-seq
MIRT875588	hsa-miR-3667-3p	CLIP-seq
MIRT875589	hsa-miR-3672	CLIP-seq
MIRT875590	hsa-miR-376c	CLIP-seq
MIRT875591	hsa-miR-3919	CLIP-seq
MIRT875592	hsa-miR-3938	CLIP-seq
MIRT875593	hsa-miR-3973	CLIP-seq
MIRT875594	hsa-miR-4255	CLIP-seq
MIRT875595	hsa-miR-4266	CLIP-seq
MIRT875596	hsa-miR-4276	CLIP-seq
MIRT875597	hsa-miR-4302	CLIP-seq
MIRT875598	hsa-miR-4307	CLIP-seq
MIRT875599	hsa-miR-4324	CLIP-seq
MIRT875600	hsa-miR-4458	CLIP-seq
MIRT875601	hsa-miR-4470	CLIP-seq
MIRT875602	hsa-miR-4477b	CLIP-seq
MIRT875603	hsa-miR-448	CLIP-seq
MIRT875604	hsa-miR-4480	CLIP-seq
MIRT875605	hsa-miR-4495	CLIP-seq
MIRT875606	hsa-miR-4500	CLIP-seq
MIRT875607	hsa-miR-4501	CLIP-seq
MIRT875608	hsa-miR-4502	CLIP-seq
MIRT875609	hsa-miR-450b-5p	CLIP-seq
MIRT875610	hsa-miR-4643	CLIP-seq
MIRT875611	hsa-miR-466	CLIP-seq
MIRT875612	hsa-miR-4660	CLIP-seq
MIRT875613	hsa-miR-4661-5p	CLIP-seq
MIRT875614	hsa-miR-4662a-5p	CLIP-seq
MIRT875615	hsa-miR-4677-5p	CLIP-seq
MIRT875616	hsa-miR-4694-3p	CLIP-seq
MIRT875617	hsa-miR-4720-3p	CLIP-seq
MIRT875618	hsa-miR-4729	CLIP-seq
MIRT875619	hsa-miR-4752	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875621	hsa-miR-4766-5p	CLIP-seq
MIRT875622	hsa-miR-4770	CLIP-seq
MIRT875623	hsa-miR-4786-3p	CLIP-seq
MIRT875624	hsa-miR-4789-3p	CLIP-seq
MIRT875625	hsa-miR-4789-5p	CLIP-seq
MIRT875626	hsa-miR-4802-3p	CLIP-seq
MIRT875627	hsa-miR-4804-3p	CLIP-seq
MIRT875628	hsa-miR-491-3p	CLIP-seq
MIRT875629	hsa-miR-495	CLIP-seq
MIRT875630	hsa-miR-5047	CLIP-seq
MIRT875631	hsa-miR-507	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT875633	hsa-miR-520a-5p	CLIP-seq
MIRT875634	hsa-miR-522	CLIP-seq
MIRT875635	hsa-miR-525-5p	CLIP-seq
MIRT875636	hsa-miR-544b	CLIP-seq
MIRT875637	hsa-miR-545	CLIP-seq
MIRT875638	hsa-miR-548a-3p	CLIP-seq
MIRT875639	hsa-miR-548ah	CLIP-seq
MIRT875640	hsa-miR-548e	CLIP-seq
MIRT875641	hsa-miR-548f	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT875643	hsa-miR-548t	CLIP-seq
MIRT875644	hsa-miR-557	CLIP-seq
MIRT875645	hsa-miR-570	CLIP-seq
MIRT875646	hsa-miR-578	CLIP-seq
MIRT875647	hsa-miR-582-3p	CLIP-seq
MIRT875648	hsa-miR-636	CLIP-seq
MIRT875649	hsa-miR-641	CLIP-seq
MIRT875650	hsa-miR-651	CLIP-seq
MIRT875651	hsa-miR-935	CLIP-seq
MIRT875652	hsa-miR-98	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875553	hsa-miR-105	CLIP-seq
MIRT875554	hsa-miR-1200	CLIP-seq
MIRT875555	hsa-miR-129-5p	CLIP-seq
MIRT875556	hsa-miR-1301	CLIP-seq
MIRT875559	hsa-miR-135a	CLIP-seq
MIRT875560	hsa-miR-135b	CLIP-seq
MIRT1959581	hsa-miR-3064-3p	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875573	hsa-miR-3158-3p	CLIP-seq
MIRT875576	hsa-miR-3180-5p	CLIP-seq
MIRT1959582	hsa-miR-3182	CLIP-seq
MIRT1959583	hsa-miR-3183	CLIP-seq
MIRT875580	hsa-miR-335	CLIP-seq
MIRT875582	hsa-miR-3607-5p	CLIP-seq
MIRT875583	hsa-miR-3609	CLIP-seq
MIRT875585	hsa-miR-3662	CLIP-seq
MIRT875586	hsa-miR-3663-5p	CLIP-seq
MIRT875587	hsa-miR-3664-5p	CLIP-seq
MIRT875588	hsa-miR-3667-3p	CLIP-seq
MIRT1959584	hsa-miR-3909	CLIP-seq
MIRT875591	hsa-miR-3919	CLIP-seq
MIRT1959585	hsa-miR-3920	CLIP-seq
MIRT875593	hsa-miR-3973	CLIP-seq
MIRT875599	hsa-miR-4324	CLIP-seq
MIRT1959586	hsa-miR-4422	CLIP-seq
MIRT1959587	hsa-miR-4446-3p	CLIP-seq
MIRT1959588	hsa-miR-4452	CLIP-seq
MIRT875602	hsa-miR-4477b	CLIP-seq
MIRT875605	hsa-miR-4495	CLIP-seq
MIRT875609	hsa-miR-450b-5p	CLIP-seq
MIRT1959589	hsa-miR-4520a-3p	CLIP-seq
MIRT1959590	hsa-miR-4520b-3p	CLIP-seq
MIRT1959591	hsa-miR-4529-3p	CLIP-seq
MIRT1959592	hsa-miR-4635	CLIP-seq
MIRT875610	hsa-miR-4643	CLIP-seq
MIRT1959593	hsa-miR-4645-3p	CLIP-seq
MIRT1959594	hsa-miR-4656	CLIP-seq
MIRT875611	hsa-miR-466	CLIP-seq
MIRT875612	hsa-miR-4660	CLIP-seq
MIRT875616	hsa-miR-4694-3p	CLIP-seq
MIRT1959595	hsa-miR-4721	CLIP-seq
MIRT1959596	hsa-miR-4723-3p	CLIP-seq
MIRT875618	hsa-miR-4729	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875621	hsa-miR-4766-5p	CLIP-seq
MIRT875624	hsa-miR-4789-3p	CLIP-seq
MIRT875625	hsa-miR-4789-5p	CLIP-seq
MIRT875626	hsa-miR-4802-3p	CLIP-seq
MIRT1959597	hsa-miR-488	CLIP-seq
MIRT875629	hsa-miR-495	CLIP-seq
MIRT875630	hsa-miR-5047	CLIP-seq
MIRT875631	hsa-miR-507	CLIP-seq
MIRT1959598	hsa-miR-511	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT875633	hsa-miR-520a-5p	CLIP-seq
MIRT875634	hsa-miR-522	CLIP-seq
MIRT875635	hsa-miR-525-5p	CLIP-seq
MIRT1959599	hsa-miR-526b	CLIP-seq
MIRT875636	hsa-miR-544b	CLIP-seq
MIRT875638	hsa-miR-548a-3p	CLIP-seq
MIRT875639	hsa-miR-548ah	CLIP-seq
MIRT875640	hsa-miR-548e	CLIP-seq
MIRT875641	hsa-miR-548f	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT875644	hsa-miR-557	CLIP-seq
MIRT875645	hsa-miR-570	CLIP-seq
MIRT875646	hsa-miR-578	CLIP-seq
MIRT875647	hsa-miR-582-3p	CLIP-seq
MIRT1959600	hsa-miR-616	CLIP-seq
MIRT1959601	hsa-miR-759	CLIP-seq
MIRT1959602	hsa-miR-9	CLIP-seq
MIRT1959603	hsa-miR-936	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875624	hsa-miR-4789-3p	CLIP-seq
MIRT1959602	hsa-miR-9	CLIP-seq
MIRT2385746	hsa-miR-3922-5p	CLIP-seq
MIRT875557	hsa-miR-1303	CLIP-seq
MIRT875570	hsa-miR-3123	CLIP-seq
MIRT875579	hsa-miR-323b-3p	CLIP-seq
MIRT875589	hsa-miR-3672	CLIP-seq
MIRT2427222	hsa-miR-3675-3p	CLIP-seq
MIRT875625	hsa-miR-4789-5p	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT2436189	hsa-miR-4738-3p	CLIP-seq
MIRT1959593	hsa-miR-4645-3p	CLIP-seq
MIRT1959602	hsa-miR-9	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875554	hsa-miR-1200	CLIP-seq
MIRT2677726	hsa-miR-1202	CLIP-seq
MIRT875555	hsa-miR-129-5p	CLIP-seq
MIRT875556	hsa-miR-1301	CLIP-seq
MIRT875559	hsa-miR-135a	CLIP-seq
MIRT875560	hsa-miR-135b	CLIP-seq
MIRT2677727	hsa-miR-2117	CLIP-seq
MIRT875567	hsa-miR-218	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875571	hsa-miR-3128	CLIP-seq
MIRT875577	hsa-miR-3190	CLIP-seq
MIRT875581	hsa-miR-3545-3p	CLIP-seq
MIRT875585	hsa-miR-3662	CLIP-seq
MIRT875587	hsa-miR-3664-5p	CLIP-seq
MIRT875588	hsa-miR-3667-3p	CLIP-seq
MIRT875589	hsa-miR-3672	CLIP-seq
MIRT2677728	hsa-miR-371-5p	CLIP-seq
MIRT2677729	hsa-miR-375	CLIP-seq
MIRT875590	hsa-miR-376c	CLIP-seq
MIRT2677730	hsa-miR-3972	CLIP-seq
MIRT2677731	hsa-miR-4273	CLIP-seq
MIRT2677732	hsa-miR-4279	CLIP-seq
MIRT875599	hsa-miR-4324	CLIP-seq
MIRT1959586	hsa-miR-4422	CLIP-seq
MIRT1959588	hsa-miR-4452	CLIP-seq
MIRT875601	hsa-miR-4470	CLIP-seq
MIRT875609	hsa-miR-450b-5p	CLIP-seq
MIRT1959592	hsa-miR-4635	CLIP-seq
MIRT875612	hsa-miR-4660	CLIP-seq
MIRT875613	hsa-miR-4661-5p	CLIP-seq
MIRT875614	hsa-miR-4662a-5p	CLIP-seq
MIRT875615	hsa-miR-4677-5p	CLIP-seq
MIRT2677733	hsa-miR-4699-5p	CLIP-seq
MIRT2677734	hsa-miR-4709-3p	CLIP-seq
MIRT2677735	hsa-miR-4714-5p	CLIP-seq
MIRT875617	hsa-miR-4720-3p	CLIP-seq
MIRT2436189	hsa-miR-4738-3p	CLIP-seq
MIRT875619	hsa-miR-4752	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875626	hsa-miR-4802-3p	CLIP-seq
MIRT875627	hsa-miR-4804-3p	CLIP-seq
MIRT875630	hsa-miR-5047	CLIP-seq
MIRT875631	hsa-miR-507	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT1959599	hsa-miR-526b	CLIP-seq
MIRT875636	hsa-miR-544b	CLIP-seq
MIRT875637	hsa-miR-545	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT875644	hsa-miR-557	CLIP-seq
MIRT875646	hsa-miR-578	CLIP-seq
MIRT2677736	hsa-miR-633	CLIP-seq
MIRT875648	hsa-miR-636	CLIP-seq

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Transcription factor	Regulation	Reference
STAT3	Activation	17699108

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0002079	Component	Inner acrosomal membrane	IEA
GO:0002250	Process	Adaptive immune response	IC	12540904
GO:0002376	Process	Immune system process	IEA
GO:0002456	Process	T cell mediated immunity	IBA
GO:0002456	Process	T cell mediated immunity	IMP	23086448
GO:0005515	Function	Protein binding	IPI	18796626, 23086448, 32296183
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20534589
GO:0005886	Component	Plasma membrane	NAS	1711570
GO:0005886	Component	Plasma membrane	TAS	1711570
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IDA	23086448
GO:0009986	Component	Cell surface	IDA	23086448
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	23086448
GO:0010629	Process	Negative regulation of gene expression	IDA	23086448
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032733	Process	Positive regulation of interleukin-10 production	IDA	12540904, 23086448
GO:0035581	Process	Sequestering of extracellular ligand from receptor	IDA	23086448
GO:0038023	Function	Signaling receptor activity	TAS	8402913
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	12540904
GO:0043382	Process	Positive regulation of memory T cell differentiation	IDA	12540904
GO:0045087	Process	Innate immune response	IEA
GO:0045296	Function	Cadherin binding	IPI	23086448
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IDA	12540904
GO:0045959	Process	Negative regulation of complement activation, classical pathway	IBA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0050776	Process	Regulation of immune response	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071636	Process	Positive regulation of transforming growth factor beta production	IDA	12540904

MIM	HGNC	e!Ensembl
120920	6953	ENSG00000117335

P15529

Protein name

Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)

Protein function

Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte d

PDB

1CKL , 2O39 , 3INB , 3L89 , 3O8E , 5FO8 , 8QK3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	35 → 94	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	99 → 157	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	162 → 223	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	228 → 283	Sushi repeat (SCR repeat)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed by all cells except erythrocytes.

Sequence

MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERV
DYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFG
YQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEV
FEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS
GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHS
VSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAV
ICVVPYRYLQRRKKKGTYLTDETHREVKFTSL

Sequence length

392

Interactions

View interactions

	KEGG		Reactome
	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades Measles		Regulation of Complement cascade

216

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atypical hemolytic-uremic syndrome	Pathogenic; Likely pathogenic	rs1419898630, rs759813089, rs2102541856, rs1191117776, rs1655006399, rs1558056827, rs1255421232, rs1441937053, rs121909590, rs1553251787, rs769742294, rs1571588257, rs1571617647	RCV005867075 RCV005867076 RCV005868371 RCV005868380 RCV002294714 RCV005867778 RCV005867779 RCV005867781 RCV005867782 RCV005869534 RCV000600566 RCV005870865 RCV005866744
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic; Likely pathogenic	rs2102541856, rs1191117776, rs886039868, rs2526572615, rs373127045, rs1558056827, rs1255421232, rs1441937053, rs121909590, rs771423488, rs2526399084, rs1343140692, rs1057516191, rs1553251787, rs769742294 View all (3 more)	RCV001808149 RCV004785335 RCV000256379 RCV003324634 RCV003335959 RCV000018572 RCV000018573 RCV000018575 RCV000018576 RCV003991952 RCV004555500 RCV004555502 RCV000408782 RCV000505668 RCV001250520 RCV000786964 RCV001029850 RCV001029803
CD46-related disorder	Likely pathogenic	rs773618613	RCV003401905
Familial Atypical Hemolytic-Uremic Syndrome	Likely pathogenic; Pathogenic	rs759813089, rs769742294	RCV002298953 RCV003994042
Thrombotic microangiopathy	Likely pathogenic; Pathogenic	rs759813089	RCV001849191

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs41258244	RCV005924482
Familial hemolytic anemia	Uncertain significance	rs1553250568	RCV000655922
Gastric cancer	Benign	rs41258244	RCV005924480
Kidney disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs368371683, rs12126088, rs17006830, rs17006843	RCV002294250 RCV002294360 RCV002294431 RCV002294432
Myofibrillar myopathy 6	Benign; Likely benign	rs35366573	RCV001258277
Nonpapillary renal cell carcinoma	Pathogenic, low penetrance	rs1441390681	RCV005910798
Ovarian cancer	Benign	rs4844390	RCV005914637
Thymoma	Benign	rs41258244	RCV005924481
Uterine corpus endometrial carcinoma	Benign	rs41258244	RCV005924483

Show/Hide Text Mining Associations (112)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	24802103
Alternating hemiplegia of childhood	Associate	20852386, 25188723
Alzheimer Disease	Associate	32755048
Anemia	Associate	22761633
Antiphospholipid Syndrome	Associate	23391762
Arthritis Rheumatoid	Associate	21283821, 28444759
Ascites	Associate	27229159
Asthma	Associate	21283821, 30154478
Atrial Fibrillation	Associate	32389013
Atrophy	Associate	28940198, 9616315
Atypical Hemolytic Uremic Syndrome	Associate	16386793, 17914026, 18424762, 19373492, 19459807, 19590060, 20016463, 20595690, 22171659, 22410797, 22420623, 22622361, 23307876, 23431077, 25608561 View all (10 more)
Autoimmune Diseases	Associate	27226545, 28273946, 34831317
Brain Neoplasms	Associate	24936658
Breast Neoplasms	Associate	15378282, 20574151, 20691986, 26280373, 30441799
Carcinogenesis	Associate	24297460, 32721119
Carcinoma Hepatocellular	Associate	10468303, 17695519, 23391762, 24297460
Carcinoma Non Small Cell Lung	Associate	8686736
Carcinoma Ovarian Epithelial	Associate	27229159
Cardiomyopathy Hypertrophic	Associate	37628806
Cell Transformation Neoplastic	Associate	32721119
Central Nervous System Diseases	Associate	20661655
Central Serous Chorioretinopathy	Associate	37079300
Choroidal Neovascularization	Associate	11979237
Colonic Neoplasms	Associate	8640847
Colorectal Neoplasms	Stimulate	24978917
Colorectal Neoplasms	Associate	7532345, 7692919
Communicable Diseases	Associate	34831317
Coronary Artery Disease	Associate	31555286
Cytokine Release Syndrome	Stimulate	23042280
Drug Related Side Effects and Adverse Reactions	Associate	10468303, 20661655
Epilepsy Generalized	Associate	40495522
Eye Diseases	Associate	39772136
Genetic Diseases Inborn	Associate	27226545, 28056875
Geographic Atrophy	Associate	21684273
Glioblastoma	Associate	37243172
Glioma	Associate	19688792, 8644856
Glomerulonephritis	Associate	17914026, 22456601
Glomerulonephritis IGA	Associate	30356754
Glomerulonephritis Membranoproliferative	Associate	20852386
Glomerulonephritis With Isolated C3 Deposits And Factor I Deficiency	Associate	17914026
Glycogen Storage Disease Type II	Associate	25214719
HAIR AN syndrome	Stimulate	18825363
HELLP Syndrome	Associate	17914026, 18658028
Hemoglobinuria Paroxysmal	Associate	16867159
Hemolysis	Associate	18658028
Hemolytic Uremic Syndrome	Associate	15784724, 16386793, 16621965, 17617869, 17914026, 19076829, 19373492, 19459807, 20059470, 23431077, 23780777, 24005975, 25188723, 30674459, 30870849, 37477760 View all (1 more)
HIV Infections	Associate	34831317
HIV Infections	Inhibit	9272912
Human Herpesvirus 6 encephalitis	Associate	10619434
Hypertension	Associate	30870849
Idiopathic Pulmonary Fibrosis	Associate	24958208
Immune Complex Diseases	Associate	36211394
Immune System Diseases	Associate	37477760
Immunologic Deficiency Syndromes	Associate	10468303, 11950905, 20574151, 23731345, 24005975, 35987516, 36211394
Infections	Associate	10619434, 20018629, 30530776
Inflammation	Associate	20661655, 22246034, 23144765, 23407402, 25188723, 25214719, 30574140
Keratoconjunctivitis	Associate	27512073
Kidney Diseases	Associate	28940198
Kidney Failure Chronic	Associate	23431077, 29907460, 30870849
Kidney Neoplasms	Associate	10744069
Leukemia	Associate	22516263
Liver Diseases	Associate	10468303
Liver Failure	Associate	17914026
Lung Neoplasms	Associate	9717965
Lupus Erythematosus Systemic	Associate	22171659, 28444759, 37477760
Lupus Erythematosus Systemic	Inhibit	22761633
Lupus Nephritis	Associate	36211394
Lymphoma	Associate	25294155
Lymphoma Follicular	Associate	22718493
Lymphopenia	Inhibit	22761633
Macular Degeneration	Inhibit	23097248
Macular Degeneration	Associate	25188723, 32717343
Measles	Associate	28289848
Mixed Tumor Mullerian	Associate	22498937
Mouth Diseases	Associate	9358772
Multiple Myeloma	Associate	30530776
Multiple Sclerosis	Associate	20661655, 21283821, 23144765, 28444759, 33329593
Myocardial Infarction	Stimulate	32389013
Neoplasm Metastasis	Associate	30203045
Neoplasms	Associate	10744069, 11520782, 15378282, 15726105, 15971270, 16612594, 17214367, 17903221, 18561323, 20574151, 23474221, 27226545, 30441799, 30870849, 32721119, 33268514, 36093754, 7532345, 8686736 View all (4 more)
Neoplasms	Inhibit	17873065
Neoplasms Cystic Mucinous and Serous	Associate	22531721
Nephritis	Associate	22171659
Neuroinflammatory Diseases	Associate	20661655
Neutropenia	Inhibit	22761633
Oligospermia	Associate	18658028
Ovarian Neoplasms	Associate	12402151, 17214367, 27229159
Pancreatic Neoplasms	Associate	21934552
Pemphigoid Bullous	Associate	28273946
Pleural Effusion	Associate	26699745
Post Infectious Disorders	Associate	36211394
Pre Eclampsia	Associate	32179765
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	21878675
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22516263
Prostatic Neoplasms	Associate	36093754
Pulmonary Arterial Hypertension	Associate	38110868
Retinal Degeneration	Associate	21684273
Retinal Drusen	Associate	25214719
Squamous Cell Carcinoma of Head and Neck	Associate	39173463
Status Asthmaticus	Associate	30154478
Stomach Neoplasms	Associate	12032231
Subacute Sclerosing Panencephalitis	Associate	11950898
Substance Related Disorders	Associate	19878546
Thrombophilia	Associate	23042280
Thrombosis	Associate	25684211
Thrombotic Microangiopathies	Associate	30870849, 37984551
Triple Negative Breast Neoplasms	Associate	26280373
Urinary Bladder Neoplasms	Associate	18561323, 28789701, 36575233
Uterine Cervical Neoplasms	Associate	11950905, 19878546, 35924232, 9358772
Uveal melanoma	Associate	32957329
Vasculitis	Associate	28940198
Xeroderma Pigmentosum	Associate	10361249

CD46 (CD46 molecule)