GTF2IRD2 (GTF2I repeat domain containing 2)

2014-11-01 Affiliation

Identity

HGNC

GTF2IRD2

LOCATION

7q11.23

LOCUSID

84163

ALIAS

FP630,GTF2IRD2 alpha,GTF2IRD2A

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: 84163
MIM: 608899
HGNC: 30775
Ensembl: ENSG00000196275

Variants:

dbSNP: 84163
ClinVar: 84163
TCGA: ENSG00000196275
COSMIC: GTF2IRD2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000196275	ENST00000451013	Q86UP8
ENSG00000196275	ENST00000614386	Q86UP8
ENSG00000196275	ENST00000625377	A0A0D9SF80
ENSG00000196275	ENST00000651129	A0A494C0I1

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

References

Pubmed ID	Year	Title	Citations
15100712	2004	Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.	15
15388857	2004	Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.	15
23118870	2012	A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.	13
15243160	2004	GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.	7
30375319	2018	Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.	0

Citation

Dessen P

GTF2IRD2 (GTF2I repeat domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64091/gtf2ird2