Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23288
Gene name Gene Name - the full gene name approved by the HGNC.
IQ motif containing E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IQCE
Synonyms (NCBI Gene) Gene synonyms aliases
1700028P05Rik, PAPA7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PAPA7
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.3
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24722188, 25416956, 32296183
GO:0005929 Component Cilium TAS
GO:0035108 Process Limb morphogenesis IMP 28488682
GO:0060170 Component Ciliary membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617631 29171 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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 22981989, 18799693, 19810119, 25348401, 28224613, 3719536, 9399901, 28488682, 24582806, 23719536, 27626380, 22495311
Polydactyly POLYDACTYLY, POSTAXIAL, Postaxial polydactyly type A, POLYDACTYLY, POSTAXIAL, TYPE A7 rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474
View all (3 more)
26394607, 28488682
Unknown
Disease term Disease name Evidence References Source
Anxiety Disorder Anxiety Disorder GWAS
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