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
30375319	2018	Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.	0
30375319	2018	Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.	0
23118870	2012	A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.	16
23118870	2012	A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.	16
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.	23
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.	8
15388857	2004	Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.	19
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.	23
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.	8
15388857	2004	Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.	19

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-(gtf2i-repeat-domain-containing-2)