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Aliases for IQCE Gene

Aliases for IQCE Gene

  • IQ Motif Containing E 2 3 5
  • IQ Domain-Containing Protein E 3
  • 1700028P05Rik 3
  • KIAA1023 4
  • PAPA7 3

External Ids for IQCE Gene

Previous GeneCards Identifiers for IQCE Gene

  • GC07P002371
  • GC07P002565
  • GC07P002598

Summaries for IQCE Gene

GeneCards Summary for IQCE Gene

IQCE (IQ Motif Containing E) is a Protein Coding gene. Diseases associated with IQCE include Polydactyly, Postaxial, Type A7 and Postaxial Polydactyly Type A, Bilateral. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR.

UniProtKB/Swiss-Prot for IQCE Gene

  • Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling.

Gene Wiki entry for IQCE Gene

Additional gene information for IQCE Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQCE Gene

Genomics for IQCE Gene

GeneHancer (GH) Regulatory Elements for IQCE Gene

Promoters and enhancers for IQCE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I002557 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 272 2.7 HDGF ARNT ARID4B SIN3A GTF3C2 ZNF121 ZNF213 ZNF207 ZNF143 ATF7 IQCE BRAT1 GC07P002574
GH07I002619 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +63.8 63773 5.8 ARNT MLX ARID4B DMAP1 ZNF48 SLC30A9 GTF3C2 FOS ATF7 ZNF263 TTYH3 AMZ1 IQCE BRAT1 GC07P002574
GH07I002626 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 +75.7 75653 16.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 TTYH3 LFNG AMZ1 CHST12 BRAT1 EIF3B IQCE SNX8
GH07I002451 Enhancer 1.1 Ensembl ENCODE 12.2 -106.9 -106909 1.8 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF48 SLC30A9 GLIS2 ARID2 ZNF143 CHST12 BRAT1 IQCE LOC645357 EIF3B SNX8 TTYH3 AMZ1 LFNG GRIFIN
GH07I002157 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.7 -400.6 -400603 2.4 FEZF1 ZNF2 ZNF213 FOS REST TSHZ1 ZNF488 ZNF518A ATF4 ZNF610 PSMG3-AS1 ENSG00000273230 IQCE MAD1L1 GC07M002150 LOC105375126
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IQCE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IQCE gene promoter:

Genomic Locations for IQCE Gene

Genomic Locations for IQCE Gene
chr7:2,558,972-2,614,734
(GRCh38/hg38)
Size:
55,763 bases
Orientation:
Plus strand
chr7:2,598,632-2,654,368
(GRCh37/hg19)

Genomic View for IQCE Gene

Genes around IQCE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQCE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IQCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IQCE Gene

Proteins for IQCE Gene

  • Protein details for IQCE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IPM2-IQCE_HUMAN
    Recommended name:
    IQ domain-containing protein E
    Protein Accession:
    Q6IPM2
    Secondary Accessions:
    • Q4G0P7
    • Q6P7T4
    • Q9H0H7
    • Q9UPX7

    Protein attributes for IQCE Gene

    Size:
    695 amino acids
    Molecular mass:
    77298 Da
    Quaternary structure:
    • Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE. Interacts (via N-terminus) with EFCAB7 (via EF-hands 1 and 2); this interaction anchors the EVC-EVC2 complex in a signaling microdomain at the base of cilia and stimulates the Hedgehog (Hh) pathway. Interacts with EVC2 (via N-terminal end). Interacts with EVC.
    SequenceCaution:
    • Sequence=BAA82975.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for IQCE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IQCE Gene

Post-translational modifications for IQCE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IQCE Gene

Domains & Families for IQCE Gene

Gene Families for IQCE Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IQCE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IQCE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IQCE: view

No data available for UniProtKB/Swiss-Prot for IQCE Gene

Function for IQCE Gene

Molecular function for IQCE Gene

UniProtKB/Swiss-Prot Function:
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling.

Phenotypes From GWAS Catalog for IQCE Gene

Gene Ontology (GO) - Molecular Function for IQCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with IQCE: view
genes like me logo Genes that share phenotypes with IQCE: view

Animal Models for IQCE Gene

MGI Knock Outs for IQCE:
  • Iqce tm1b(EUCOMM)Hmgu

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IQCE Gene

Localization for IQCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for IQCE Gene

Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250 UniProtKB:Q6PCQ0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IQCE gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IQCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane IEA --
GO:0005929 cilium TAS --
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane IEA --
genes like me logo Genes that share ontologies with IQCE: view

Pathways & Interactions for IQCE Gene

genes like me logo Genes that share pathways with IQCE: view

Pathways by source for IQCE Gene

Gene Ontology (GO) - Biological Process for IQCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with IQCE: view

No data available for SIGNOR curated interactions for IQCE Gene

Drugs & Compounds for IQCE Gene

No Compound Related Data Available

Transcripts for IQCE Gene

Unigene Clusters for IQCE Gene

IQ motif containing E:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IQCE Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: -
SP6:
SP7:
SP8: -
SP9: - -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b
SP1: - - -
SP2: -
SP3: - - -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:

Relevant External Links for IQCE Gene

GeneLoc Exon Structure for
IQCE
ECgene alternative splicing isoforms for
IQCE

Expression for IQCE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IQCE Gene

Protein differential expression in normal tissues from HIPED for IQCE Gene

This gene is overexpressed in Nasal epithelium (31.7), Serum (9.7), Urine (9.3), Platelet (7.2), and Bone marrow mesenchymal stem cell (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IQCE Gene



NURSA nuclear receptor signaling pathways regulating expression of IQCE Gene:

IQCE

SOURCE GeneReport for Unigene cluster for IQCE Gene:

Hs.520627

Evidence on tissue expression from TISSUES for IQCE Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with IQCE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IQCE Gene

Orthologs for IQCE Gene

This gene was present in the common ancestor of chordates.

Orthologs for IQCE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IQCE 33 34
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia IQCE 33 34
  • 76.29 (n)
cow
(Bos Taurus)
Mammalia IQCE 33 34
  • 75.19 (n)
mouse
(Mus musculus)
Mammalia Iqce 33 16 34
  • 74.15 (n)
rat
(Rattus norvegicus)
Mammalia Iqce 33
  • 74.1 (n)
oppossum
(Monodelphis domestica)
Mammalia IQCE 34
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IQCE 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves IQCE 33 34
  • 58.49 (n)
lizard
(Anolis carolinensis)
Reptilia IQCE 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqce 33
  • 53.85 (n)
zebrafish
(Danio rerio)
Actinopterygii iqce 33 34
  • 49.79 (n)
Species where no ortholog for IQCE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IQCE Gene

ENSEMBL:
Gene Tree for IQCE (if available)
TreeFam:
Gene Tree for IQCE (if available)

Paralogs for IQCE Gene

No data available for Paralogs for IQCE Gene

Variants for IQCE Gene

Sequence variations from dbSNP and Humsavar for IQCE Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs755938967 pathogenic, POLYDACTYLY, POSTAXIAL, TYPE A7 2,573,417(+) G/A genic_upstream_transcript_variant, splice_acceptor_variant
rs1000000903 -- 2,582,389(+) C/G/T intron_variant
rs1000028808 -- 2,613,449(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000097316 -- 2,609,414(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000106569 -- 2,593,920(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IQCE Gene

Variant ID Type Subtype PubMed ID
dgv401n21 CNV loss 19592680
esv1223273 CNV deletion 17803354
esv1234995 CNV insertion 17803354
esv1553581 CNV deletion 17803354
esv2349098 CNV deletion 18987734
esv2357458 CNV deletion 18987734
esv2733858 CNV deletion 23290073
esv2733859 CNV deletion 23290073
esv2733860 CNV deletion 23290073
esv2733862 CNV deletion 23290073
esv3541050 CNV deletion 23714750
esv3611845 CNV loss 21293372
esv994621 CNV insertion 20482838
nsv1026756 CNV loss 25217958
nsv1027694 CNV gain 25217958
nsv1074475 CNV deletion 25765185
nsv1119103 CNV deletion 24896259
nsv1149821 CNV deletion 26484159
nsv1161479 CNV deletion 26073780
nsv471227 CNV loss 18288195
nsv605862 CNV loss 21841781
nsv605863 CNV loss 21841781
nsv823982 CNV gain 20364138
nsv830887 CNV loss 17160897
nsv950793 CNV deletion 24416366

Variation tolerance for IQCE Gene

Residual Variation Intolerance Score: 91.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.31; 94.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IQCE Gene

Human Gene Mutation Database (HGMD)
IQCE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IQCE

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQCE Gene

Disorders for IQCE Gene

MalaCards: The human disease database

(2) MalaCards diseases for IQCE Gene - From: OMIM, ClinVar, and Orphanet

- elite association - COSMIC cancer census association via MalaCards
Search IQCE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IQCE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IQCE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IQCE Gene

Publications for IQCE Gene

  1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. (PMID: 28488682) Umair M … Ahmad W (European journal of human genetics : EJHG 2017) 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for IQCE Gene

Sources for IQCE Gene

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