GCM2 (glial cells missing transcription factor 2)

2015-10-01 Affiliation

Identity

HGNC

GCM2

LOCATION

6p24.2

LOCUSID

9247

ALIAS

FIH2,GCMB,HRPT4,hGCMb

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: 9247
MIM: 603716
HGNC: 4198
Ensembl: ENSG00000124827

Variants:

dbSNP: 9247
ClinVar: 9247
TCGA: ENSG00000124827
COSMIC: GCM2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000124827	ENST00000379491	O75603

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
18712808	2009	Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.	17
27745835	2016	GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.	16
18583467	2008	Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.	15
18182452	2008	Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.	12
20190276	2010	Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.	12
20463099	2010	A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.	10
25917456	2015	Gata3 cooperates with Gcm2 and MafB to activate parathyroid hormone gene expression by interacting with SP1.	10
15657585	2004	GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism.	9
19257819	2009	Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells.	8
19940031	2010	Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.	7

Citation

Dessen P

GCM2 (glial cells missing transcription factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55471/gcm2