IQCE (IQ motif containing E)

Gene

• Entrez ID: 23288
• Gene name: IQ motif containing E
• Gene symbol: IQCE
• Synonyms (NCBI Gene): 1700028P05Rik, PAPA7
• Chromosome: 7
• Chromosome location: 7p22.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs753670589	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs755938967	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs760694987	AGAG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs773701437	CGGAGTGTCC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019831	hsa-miR-375	Microarray	20215506
MIRT022512	hsa-miR-124-3p	Microarray	18668037
MIRT046936	hsa-miR-221-3p	CLASH	23622248
MIRT644067	hsa-miR-4457	HITS-CLIP	23824327
MIRT644066	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT644065	hsa-miR-4469	HITS-CLIP	23824327
MIRT644064	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT644063	hsa-miR-4287	HITS-CLIP	23824327
MIRT644062	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT644061	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT644060	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT644059	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT644058	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT644057	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT644056	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT644067	hsa-miR-4457	HITS-CLIP	23824327
MIRT644066	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT644065	hsa-miR-4469	HITS-CLIP	23824327
MIRT644064	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT644063	hsa-miR-4287	HITS-CLIP	23824327
MIRT644062	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT644061	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT644060	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT644059	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT644058	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT644057	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT644056	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT1069555	hsa-miR-1197	CLIP-seq
MIRT1069556	hsa-miR-1200	CLIP-seq
MIRT1069557	hsa-miR-1255a	CLIP-seq
MIRT1069558	hsa-miR-1255b	CLIP-seq
MIRT1069559	hsa-miR-1267	CLIP-seq
MIRT1069560	hsa-miR-1273d	CLIP-seq
MIRT1069561	hsa-miR-1286	CLIP-seq
MIRT1069562	hsa-miR-1324	CLIP-seq
MIRT1069563	hsa-miR-136	CLIP-seq
MIRT1069564	hsa-miR-1587	CLIP-seq
MIRT1069565	hsa-miR-1909	CLIP-seq
MIRT1069566	hsa-miR-193a-5p	CLIP-seq
MIRT1069567	hsa-miR-1976	CLIP-seq
MIRT1069568	hsa-miR-214	CLIP-seq
MIRT1069569	hsa-miR-219-1-3p	CLIP-seq
MIRT1069570	hsa-miR-2277-3p	CLIP-seq
MIRT1069571	hsa-miR-23a	CLIP-seq
MIRT1069572	hsa-miR-23b	CLIP-seq
MIRT1069573	hsa-miR-23c	CLIP-seq
MIRT1069574	hsa-miR-3140-3p	CLIP-seq
MIRT1069575	hsa-miR-3157-5p	CLIP-seq
MIRT1069576	hsa-miR-3619-5p	CLIP-seq
MIRT1069577	hsa-miR-3690	CLIP-seq
MIRT1069578	hsa-miR-378g	CLIP-seq
MIRT1069579	hsa-miR-3944-5p	CLIP-seq
MIRT1069580	hsa-miR-4254	CLIP-seq
MIRT1069581	hsa-miR-4259	CLIP-seq
MIRT1069582	hsa-miR-4291	CLIP-seq
MIRT1069583	hsa-miR-4324	CLIP-seq
MIRT1069584	hsa-miR-4329	CLIP-seq
MIRT1069585	hsa-miR-4436a	CLIP-seq
MIRT1069586	hsa-miR-4468	CLIP-seq
MIRT1069587	hsa-miR-4477b	CLIP-seq
MIRT1069588	hsa-miR-4492	CLIP-seq
MIRT1069589	hsa-miR-4498	CLIP-seq
MIRT1069590	hsa-miR-4519	CLIP-seq
MIRT1069591	hsa-miR-4645-3p	CLIP-seq
MIRT1069592	hsa-miR-4652-3p	CLIP-seq
MIRT1069593	hsa-miR-4656	CLIP-seq
MIRT1069594	hsa-miR-4675	CLIP-seq
MIRT1069595	hsa-miR-4687-5p	CLIP-seq
MIRT1069596	hsa-miR-4690-3p	CLIP-seq
MIRT1069597	hsa-miR-4703-3p	CLIP-seq
MIRT1069598	hsa-miR-4715-5p	CLIP-seq
MIRT1069599	hsa-miR-4741	CLIP-seq
MIRT1069600	hsa-miR-4777-5p	CLIP-seq
MIRT1069601	hsa-miR-4793-5p	CLIP-seq
MIRT1069602	hsa-miR-544b	CLIP-seq
MIRT1069603	hsa-miR-571	CLIP-seq
MIRT1069604	hsa-miR-601	CLIP-seq
MIRT1069605	hsa-miR-661	CLIP-seq
MIRT1069606	hsa-miR-761	CLIP-seq
MIRT1069607	hsa-miR-762	CLIP-seq
MIRT1069608	hsa-miR-922	CLIP-seq
MIRT1069609	hsa-miR-1182	CLIP-seq
MIRT1069610	hsa-miR-1226	CLIP-seq
MIRT1069611	hsa-miR-1228	CLIP-seq
MIRT1069612	hsa-miR-1275	CLIP-seq
MIRT1069613	hsa-miR-182	CLIP-seq
MIRT1069614	hsa-miR-2110	CLIP-seq
MIRT1069615	hsa-miR-22	CLIP-seq
MIRT1069616	hsa-miR-24	CLIP-seq
MIRT1069617	hsa-miR-299-5p	CLIP-seq
MIRT1069618	hsa-miR-3064-3p	CLIP-seq
MIRT1069619	hsa-miR-3121-3p	CLIP-seq
MIRT1069620	hsa-miR-3144-5p	CLIP-seq
MIRT1069621	hsa-miR-3148	CLIP-seq
MIRT1069622	hsa-miR-3150a-3p	CLIP-seq
MIRT1069623	hsa-miR-3156-5p	CLIP-seq
MIRT1069624	hsa-miR-3177-3p	CLIP-seq
MIRT1069625	hsa-miR-3191	CLIP-seq
MIRT1069626	hsa-miR-342-3p	CLIP-seq
MIRT1069627	hsa-miR-3649	CLIP-seq
MIRT1069628	hsa-miR-3661	CLIP-seq
MIRT1069629	hsa-miR-3688-3p	CLIP-seq
MIRT1069630	hsa-miR-3689a-3p	CLIP-seq
MIRT1069631	hsa-miR-3689c	CLIP-seq
MIRT1069577	hsa-miR-3690	CLIP-seq
MIRT1069632	hsa-miR-3924	CLIP-seq
MIRT1069633	hsa-miR-3925-5p	CLIP-seq
MIRT1069580	hsa-miR-4254	CLIP-seq
MIRT1069634	hsa-miR-4260	CLIP-seq
MIRT1069635	hsa-miR-4264	CLIP-seq
MIRT1069636	hsa-miR-4271	CLIP-seq
MIRT1069637	hsa-miR-4284	CLIP-seq
MIRT1069638	hsa-miR-4300	CLIP-seq
MIRT1069639	hsa-miR-4433	CLIP-seq
MIRT1069640	hsa-miR-4455	CLIP-seq
MIRT1069641	hsa-miR-4459	CLIP-seq
MIRT1069642	hsa-miR-4474-5p	CLIP-seq
MIRT1069643	hsa-miR-4525	CLIP-seq
MIRT1069644	hsa-miR-4643	CLIP-seq
MIRT1069645	hsa-miR-4652-5p	CLIP-seq
MIRT1069646	hsa-miR-4665-5p	CLIP-seq
MIRT1069647	hsa-miR-4691-3p	CLIP-seq
MIRT1069648	hsa-miR-4694-3p	CLIP-seq
MIRT1069649	hsa-miR-4704-3p	CLIP-seq
MIRT1069650	hsa-miR-4713-5p	CLIP-seq
MIRT1069651	hsa-miR-4723-5p	CLIP-seq
MIRT1069652	hsa-miR-4725-3p	CLIP-seq
MIRT1069653	hsa-miR-4733-3p	CLIP-seq
MIRT1069654	hsa-miR-4768-3p	CLIP-seq
MIRT1069601	hsa-miR-4793-5p	CLIP-seq
MIRT1069655	hsa-miR-4797-3p	CLIP-seq
MIRT1069656	hsa-miR-492	CLIP-seq
MIRT1069657	hsa-miR-570	CLIP-seq
MIRT1069658	hsa-miR-579	CLIP-seq
MIRT1069659	hsa-miR-609	CLIP-seq
MIRT1069660	hsa-miR-625	CLIP-seq
MIRT1069661	hsa-miR-631	CLIP-seq
MIRT1069662	hsa-miR-646	CLIP-seq
MIRT1069663	hsa-miR-668	CLIP-seq
MIRT1069664	hsa-miR-671-5p	CLIP-seq
MIRT1069665	hsa-miR-920	CLIP-seq
MIRT2017096	hsa-miR-1202	CLIP-seq
MIRT1069610	hsa-miR-1226	CLIP-seq
MIRT2017097	hsa-miR-1236	CLIP-seq
MIRT2017098	hsa-miR-1254	CLIP-seq
MIRT2017099	hsa-miR-1302	CLIP-seq
MIRT1069564	hsa-miR-1587	CLIP-seq
MIRT1069568	hsa-miR-214	CLIP-seq
MIRT1069616	hsa-miR-24	CLIP-seq
MIRT2017100	hsa-miR-3116	CLIP-seq
MIRT2017101	hsa-miR-3122	CLIP-seq
MIRT2017102	hsa-miR-3130-3p	CLIP-seq
MIRT1069575	hsa-miR-3157-5p	CLIP-seq
MIRT2017103	hsa-miR-3173-5p	CLIP-seq
MIRT2017104	hsa-miR-3176	CLIP-seq
MIRT1069624	hsa-miR-3177-3p	CLIP-seq
MIRT2017105	hsa-miR-3189-3p	CLIP-seq
MIRT2017106	hsa-miR-3194-5p	CLIP-seq
MIRT2017107	hsa-miR-331-5p	CLIP-seq
MIRT2017108	hsa-miR-346	CLIP-seq
MIRT1069576	hsa-miR-3619-5p	CLIP-seq
MIRT2017109	hsa-miR-3647-3p	CLIP-seq
MIRT2017110	hsa-miR-3650	CLIP-seq
MIRT2017111	hsa-miR-3667-3p	CLIP-seq
MIRT1069630	hsa-miR-3689a-3p	CLIP-seq
MIRT1069631	hsa-miR-3689c	CLIP-seq
MIRT2017112	hsa-miR-370	CLIP-seq
MIRT1069578	hsa-miR-378g	CLIP-seq
MIRT2017113	hsa-miR-3913-5p	CLIP-seq
MIRT2017114	hsa-miR-3922-3p	CLIP-seq
MIRT1069632	hsa-miR-3924	CLIP-seq
MIRT2017115	hsa-miR-3972	CLIP-seq
MIRT1069637	hsa-miR-4284	CLIP-seq
MIRT2017116	hsa-miR-4288	CLIP-seq
MIRT1069582	hsa-miR-4291	CLIP-seq
MIRT2017117	hsa-miR-4298	CLIP-seq
MIRT1069638	hsa-miR-4300	CLIP-seq
MIRT2017118	hsa-miR-4311	CLIP-seq
MIRT2017119	hsa-miR-4418	CLIP-seq
MIRT2017120	hsa-miR-4453	CLIP-seq
MIRT1069640	hsa-miR-4455	CLIP-seq
MIRT1069586	hsa-miR-4468	CLIP-seq
MIRT1069588	hsa-miR-4492	CLIP-seq
MIRT1069589	hsa-miR-4498	CLIP-seq
MIRT1069590	hsa-miR-4519	CLIP-seq
MIRT2017121	hsa-miR-4530	CLIP-seq
MIRT2017122	hsa-miR-4538	CLIP-seq
MIRT2017123	hsa-miR-4640-5p	CLIP-seq
MIRT1069645	hsa-miR-4652-5p	CLIP-seq
MIRT1069593	hsa-miR-4656	CLIP-seq
MIRT2017124	hsa-miR-4663	CLIP-seq
MIRT2017125	hsa-miR-4667-3p	CLIP-seq
MIRT2017126	hsa-miR-4668-3p	CLIP-seq
MIRT1069594	hsa-miR-4675	CLIP-seq
MIRT2017127	hsa-miR-4678	CLIP-seq
MIRT1069596	hsa-miR-4690-3p	CLIP-seq
MIRT2017128	hsa-miR-4690-5p	CLIP-seq
MIRT1069647	hsa-miR-4691-3p	CLIP-seq
MIRT2017129	hsa-miR-4694-5p	CLIP-seq
MIRT2017130	hsa-miR-4698	CLIP-seq
MIRT2017131	hsa-miR-4711-3p	CLIP-seq
MIRT2017132	hsa-miR-4722-3p	CLIP-seq
MIRT2017133	hsa-miR-4726-5p	CLIP-seq
MIRT2017134	hsa-miR-4728-3p	CLIP-seq
MIRT2017135	hsa-miR-4731-3p	CLIP-seq
MIRT2017136	hsa-miR-4731-5p	CLIP-seq
MIRT1069599	hsa-miR-4741	CLIP-seq
MIRT2017137	hsa-miR-4747-3p	CLIP-seq
MIRT2017138	hsa-miR-4781-5p	CLIP-seq
MIRT2017139	hsa-miR-4799-5p	CLIP-seq
MIRT2017140	hsa-miR-4801	CLIP-seq
MIRT2017141	hsa-miR-509-3-5p	CLIP-seq
MIRT2017142	hsa-miR-509-5p	CLIP-seq
MIRT2017143	hsa-miR-539	CLIP-seq
MIRT2017144	hsa-miR-548aa	CLIP-seq
MIRT2017145	hsa-miR-562	CLIP-seq
MIRT1069657	hsa-miR-570	CLIP-seq
MIRT2017146	hsa-miR-580	CLIP-seq
MIRT2017147	hsa-miR-632	CLIP-seq
MIRT1069605	hsa-miR-661	CLIP-seq
MIRT1069606	hsa-miR-761	CLIP-seq
MIRT1069607	hsa-miR-762	CLIP-seq
MIRT2017148	hsa-miR-892b	CLIP-seq
MIRT1069665	hsa-miR-920	CLIP-seq
MIRT1069608	hsa-miR-922	CLIP-seq
MIRT2249102	hsa-miR-1184	CLIP-seq
MIRT2249103	hsa-miR-1205	CLIP-seq
MIRT2249104	hsa-miR-1291	CLIP-seq
MIRT2249105	hsa-miR-3158-5p	CLIP-seq
MIRT2249106	hsa-miR-3160-5p	CLIP-seq
MIRT2249107	hsa-miR-3665	CLIP-seq
MIRT1069645	hsa-miR-4652-5p	CLIP-seq
MIRT2249108	hsa-miR-544	CLIP-seq
MIRT2249109	hsa-miR-657	CLIP-seq
MIRT2249102	hsa-miR-1184	CLIP-seq
MIRT2389451	hsa-miR-140-3p	CLIP-seq
MIRT2389452	hsa-miR-298	CLIP-seq
MIRT2389453	hsa-miR-3151	CLIP-seq
MIRT2249105	hsa-miR-3158-5p	CLIP-seq
MIRT2552686	hsa-miR-1207-3p	CLIP-seq
MIRT2552687	hsa-miR-138	CLIP-seq
MIRT2552688	hsa-miR-4267	CLIP-seq
MIRT2552689	hsa-miR-4290	CLIP-seq
MIRT2017124	hsa-miR-4663	CLIP-seq
MIRT2552690	hsa-miR-548q	CLIP-seq
MIRT2552691	hsa-miR-766	CLIP-seq
MIRT2552686	hsa-miR-1207-3p	CLIP-seq
MIRT2552687	hsa-miR-138	CLIP-seq
MIRT2552688	hsa-miR-4267	CLIP-seq
MIRT2552689	hsa-miR-4290	CLIP-seq
MIRT2017124	hsa-miR-4663	CLIP-seq
MIRT2552690	hsa-miR-548q	CLIP-seq
MIRT2552691	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24722188, 25416956, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0016020	Component	Membrane	IEA
GO:0035108	Process	Limb morphogenesis	IMP	28488682
GO:0042995	Component	Cell projection	IEA
GO:0060170	Component	Ciliary membrane	IEA

Other IDs

• MIM: 617631
• HGNC: 29171
• e!Ensembl: ENSG00000106012

Protein

• UniProt ID: Q6IPM2
• Protein name: IQ domain-containing protein E
• Protein function: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis (PubMed:28488682).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00612	IQ	543 → 563	IQ calmodulin-binding motif	Motif
  PF00612	IQ	602 → 622	IQ calmodulin-binding motif	Motif

• Sequence:

  MFLGTGEPALDTGDDSLSAVTFDSDVETKAKRKAFHKPPPTSPKSPYLSKPRKVASWRSL
  RTAGSMPLGGRASLTPQKLWLGTAKPGSLTQALNSPLTWEHAWTGVPGGTPDCLTDTFRV
  KRPHLRRSASNGHVPGTPVYREKEDMYDEIIELKKSLHVQKSDVDLMRTKLRRLEEENSR
  KDRQIEQLLDPSRGTDFVRTLAEKRPDASWVINGLKQRILKLEQQCKEKDGTISKLQTDM
  KTTNLEEMRIAMETYYEEVHRLQTLLASSETTGKKPLGEKKTGAKRQKKMGSALLSLSRS
  VQELTEENQSLKEDLDRVLSTSPTISKTQGYVEWSKPRLLRRIVELEKKLSVMESSKSHA
  AEPVRSHPPACLASSSALHRQPRGDRNKDHERLRGAVRDLKEERTALQEQLLQRDLEVKQ
  LLQAKADLEKELECAREGEEERREREEVLREEIQTLTSKLQELQEMKKEEKEDCPEVPHK
  AQELPAPTPSSRHCEQDWPPDSSEEGLPRPRSPCSDGRRDAAARVLQAQWKVYKHKKKKA
  VLDEAAVVLQAAFRGHLTRTKLLASKAHGSEPPSVPGLPDQSSPVPRVPSPIAQATGSPV
  QEEAIVIIQSALRAHLARARHSATGKRTTTAASTRRRSASATHGDASSPPFLAALPDPSP
  SGPQALAPLPGDDVNSDDSDDIVIAPSLPTKNFPV

• Sequence length: 695

Pathways

KEGG:

Hedgehog signaling pathway

Reactome:

Activation of SMO

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial pancreatic carcinoma	Pathogenic	rs760694987	RCV005870878
IQCE-related disorder	Pathogenic	rs760694987	RCV003413586
Polydactyly, postaxial, type A1	Pathogenic	rs760694987	RCV000852375
Polydactyly, postaxial, type a7	Likely pathogenic; Pathogenic	rs1298717770, rs759821884, rs755938967, rs760694987	RCV001331779 RCV003990936 RCV000500395 RCV001255655

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Brachydactyly	Conflicting classifications of pathogenicity	rs773701437	RCV000852372
Clear cell carcinoma of kidney	Uncertain significance; Benign	rs201863435, rs191503365	RCV005932472 RCV005905350
Colorectal cancer	Uncertain significance; Likely benign	rs201863435, rs750208569	RCV005932473 RCV005907461
Familial cancer of breast	Benign	rs191503365	RCV005905349
Lung cancer	Uncertain significance	rs201863435	RCV005932475
Ovarian serous cystadenocarcinoma	Benign	rs191503365	RCV005906343
Retinal degeneration	Conflicting classifications of pathogenicity	rs773701437	RCV000852372
Syndactyly	Conflicting classifications of pathogenicity	rs773701437	RCV000852372
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign; Benign	rs201863435, rs371441568, rs191503365	RCV005932474 RCV005936876 RCV005906344
Uterine corpus endometrial carcinoma	Likely benign	rs371441568	RCV005936877

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic lateral sclerosis 1	Associate	35853630
Food Hypersensitivity	Associate	29489655
Melanoma	Associate	32462000
Neoplasms	Associate	32462000
Polydactyly	Associate	28488682
Polydactyly Postaxial	Associate	37684519
Tooth Mobility	Associate	30760334