IQSEC2 (IQ motif and Sec7 domain ArfGEF 2)

2014-11-01 Affiliation

Identity

HGNC

IQSEC2

LOCATION

Xp11.22

LOCUSID

23096

ALIAS

BRAG1,IQ-ArfGEF,MRX1,MRX18,MRX78

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23096
MIM: 300522
HGNC: 29059
Ensembl: ENSG00000124313

Variants:

dbSNP: 23096
ClinVar: 23096
TCGA: ENSG00000124313
COSMIC: IQSEC2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000124313	ENST00000375365	Q5JU85
ENSG00000124313	ENST00000485377	A0A1W2PPR2
ENSG00000124313	ENST00000498281	A0A1W2PPD3
ENSG00000124313	ENST00000638521	A0A1W2PRJ5
ENSG00000124313	ENST00000638583	A0A1W2PQP8
ENSG00000124313	ENST00000638630	A0A1W2PR18
ENSG00000124313	ENST00000638869	A0A1W2PPU7
ENSG00000124313	ENST00000639161	Q5JU85
ENSG00000124313	ENST00000639485	A0A1W2PR10
ENSG00000124313	ENST00000639642	A0A1W2PQ34
ENSG00000124313	ENST00000639796	A0A1W2PQS2
ENSG00000124313	ENST00000640005	A0A1W2PPE7
ENSG00000124313	ENST00000640694	A0A1W2PR28
ENSG00000124313	ENST00000642864	Q5JU85

Expression (GTEx)

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

Pathway	Source	External ID
Endocytosis	KEGG	ko04144
Endocytosis	KEGG	hsa04144

References

Pubmed ID	Year	Title	Citations
20473311	2010	Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.	53
24306141	2014	Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.	17
23674175	2014	Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.	15
27665735	2016	The molecular and phenotypic spectrum of IQSEC2-related epilepsy.	14
26059843	2016	Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.	13
27062609	2017	Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.	13
26884337	2016	Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.	12
27009485	2016	Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.	10
28213671	2017	Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.	8
30328660	2019	IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.	8

Citation

Dessen P

IQSEC2 (IQ motif and Sec7 domain ArfGEF 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64659/iqsec2