IQCE (IQ motif containing E)

2014-11-01  

Identity

HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
1700028P05Rik,PAPA7
FUSION GENES

Other Information

Locus ID:

NCBI: 23288
MIM: 617631
HGNC: 29171
Ensembl: ENSG00000106012

Variants:

dbSNP: 23288
ClinVar: 23288
TCGA: ENSG00000106012
COSMIC: IQCE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106012ENST00000325979Q6IPM2
ENSG00000106012ENST00000325979A0A024R853
ENSG00000106012ENST00000325997X5D7Y5
ENSG00000106012ENST00000402050Q6IPM2
ENSG00000106012ENST00000404984Q6IPM2
ENSG00000106012ENST00000415271C9JE72
ENSG00000106012ENST00000422276C9JP75
ENSG00000106012ENST00000423196C9J5R6
ENSG00000106012ENST00000423395C9JP75
ENSG00000106012ENST00000427817H7C427
ENSG00000106012ENST00000438376Q6IPM2
ENSG00000106012ENST00000476665A0A087WX45
ENSG00000106012ENST00000611775A0A087WX19
ENSG00000106012ENST00000623361Q6IPM2
ENSG00000106012ENST00000623361A0A024R853

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'on' stateREACTOMER-HSA-5632684
Activation of SMOREACTOMER-HSA-5635838

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
315497512020Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.3
315497512020Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.3
284886822017Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.18
284886822017Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

IQCE (IQ motif containing E)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64647/iqce-(iq-motif-containing-e)