GCM2 (glial cells missing transcription factor 2)

2015-10-01  

Identity

HGNC
GCM2
LOCATION
6p24.2
LOCUSID
9247
ALIAS
FIH2,GCMB,HRPT4,hGCMb

Other Information

Locus ID:

NCBI: 9247
MIM: 603716
HGNC: 4198
Ensembl: ENSG00000124827

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124827ENST00000379491O75603

Expression (GTEx)

0
1
2
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 IDYearTitleCitations
381303972023GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.0
381303972023GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.0
349679082022GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.8
350383132022Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.8
349679082022GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.8
350383132022Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.8
335365782021Five patients with disorders of calcium metabolism presented with GCM2 gene variants.5
340775442021GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3.2
335365782021Five patients with disorders of calcium metabolism presented with GCM2 gene variants.5
340775442021GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3.2
334717112020Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients.7
334717112020Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients.7
306246402019Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.21
306246402019Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.21
291086982018Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.14

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-(glial-cells-missing-transcription-factor-2)