IQCE (IQ motif containing E)

2014-11-01  

Identity

HGNC
IQCE
LOCATION
7p22.3
LOCUSID
23288
ALIAS
1700028P05Rik,PAPA7
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
284886822017Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.7

Citation

Dessen P

IQCE (IQ motif containing E)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64647/iqce