Gene Gene information from NCBI Gene database.
Entrez ID 23288
Gene name IQ motif containing E
Gene symbol IQCE
Synonyms (NCBI Gene)
1700028P05RikPAPA7
Chromosome 7
Chromosome location 7p22.3
SNPs SNP information provided by dbSNP.
4
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 miRNA information provided by mirtarbase database.
253
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617631 29171 ENSG00000106012
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hedgehog signaling pathway   Activation of SMO
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial pancreatic carcinoma Pathogenic rs760694987 RCV005870878
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IQCE-related disorder Pathogenic rs760694987 RCV003413586
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly, postaxial, type A1 Pathogenic rs760694987 RCV000852375
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly, postaxial, type a7 Likely pathogenic; Pathogenic rs1298717770, rs759821884, rs755938967, rs760694987 RCV001331779
RCV003990936
RCV000500395
RCV001255655
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brachydactyly Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 35853630 Associate
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 32462000 Associate
★☆☆☆☆
Found in Text Mining only
Multiple congenital anomalies Multiple Congenital Anomalies CLINVAR_DG 18799693, 19810119, 22495311, 22981989, 23719536, 24582806, 25348401, 27626380, 28224613, 28488682, 3719536, 9399901
★☆☆☆☆
Found in Text Mining only
Polydactyly Polydactyly BEFREE 28488682
★☆☆☆☆
Found in Text Mining only
Polydactyly Polydactyly Pubtator 28488682 Associate
★☆☆☆☆
Found in Text Mining only
Polydactyly Postaxial Polydactyly Pubtator 37684519 Associate
★☆☆☆☆
Found in Text Mining only
POLYDACTYLY, POSTAXIAL Polydactyly BEFREE 31549751
★☆☆☆☆
Found in Text Mining only
POLYDACTYLY, POSTAXIAL Polydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
POLYDACTYLY, POSTAXIAL, TYPE A7 Polydactyly GENOMICS_ENGLAND_DG 28488682
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type A Polydactyly ORPHANET_DG 26394607, 28488682
★★☆☆☆
Found in Text Mining + Unknown/Other Associations