IQSEC3 (IQ motif and Sec7 domain ArfGEF 3)

2014-08-01  

Identity

HGNC
IQSEC3
LOCATION
12p13.33
LOCUSID
440073
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 440073
MIM: 612118
HGNC: 29193
Ensembl: ENSG00000120645

Variants:

dbSNP: 440073
ClinVar: 440073
TCGA: ENSG00000120645
COSMIC: IQSEC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120645ENST00000382841Q9UPP2
ENSG00000120645ENST00000538872Q9UPP2

Expression (GTEx)

0
50
100
150
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

References

Pubmed IDYearTitleCitations
270021432016IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation.7
179812612007Identification of a neuron-specific human gene, KIAA1110, that is a guanine nucleotide exchange factor for ARF1.6

Citation

Dessen P

IQSEC3 (IQ motif and Sec7 domain ArfGEF 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54384/iqsec3