GCM2 - glial cells missing transcription factor 2 Gene

Homo sapiens

Also known as FIH2; GCMB; HRPT4; hGCMb

Gene ID: 9247 | Gene type: protein coding

About GCM2

Cytogenetic location: 6p24.2 Genomic coordinates (GRCh38): 6:10,873,223-10,882,041 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues, 1 paralogue and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]

GCM2 Products(1)

mRNA	Protein	Name
NM_004752.4	NP_004743.1	chorion-specific transcription factor GCMb

GCM2 Protein Structure

GCM

0
100
200
300
400
506 a.a.

Protein Preferred Names

Protein Names

chorion-specific transcription factor GCMb

GCM motif protein 2

Related Diseases

Diseases

Alias

Hypoparathyroidism, Familial Isolated, 2

FIH2	Hypoparathyroidism, Familial Isolated 2

Hyperparathyroidism 4

HRPT4

Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland

Familial Isolated Hypoparathyroidism

Fih

Hyperparathyroidism 1

Familial Isolated Hyperparathyroidism	Fihp
HRPT1	Hyperparathyroidism, Familial Isolated Primary
Hyperparathyroidism, Familial Primary	Familial Primary Hyperparathyroidism
Fihpt	Hyperparathyroidism, Familial, Isolated, Primary
Hyperparathyroidism 3	Parathyroid Adenoma, Familial

Hypoparathyroidism

Hypoparathyroidism, Idiopathic	Parathyroid, Underactivity Of
Syndrome With Hypoparathyroidism	Deficiency Of Parathyroid Hormone
Parathyroid Gland Insufficiency	Parathyroid Insufficiency
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Primary Hyperparathyroidism

Familial Primary Hyperparathyroidism	Hyperparathyroidism, Primary
Hyperparathyroidism Primary	Hypocalciuric Hypercalcemia, Familial, Type 1
Familial Benign Hypercalcemia	Familial Hyperparathyroidism
Parathyroid Enlargement

Hyperparathyroidism

Hyperparathyroidism And Other Disorders Of Parathyroid Gland	Parathyroid Hyperfunction
Hpth - [Hyperparathyroidism]	Parathyroid Gland Hyperfunction
Parathyroid Glandular Hyperfunction

Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia	Autosomal Dominant Hypocalcemia 1
HYPOC1	Hypocalcemia, Autosomal Dominant
Hypercalciuric Hypocalcemia	Hypocalcemia, Autosomal Dominant, With Bartter Syndrome
Familial Hypocalcemia	Hypocalcemia, Familial
Hypoc	Adh
Autosomal Dominant Hypoparathyroidism	Familial Hypercalciuric Hypocalcemia
Ad Hypocalcemia	Autosomal Dominant Hypocalcemia With Bartter Syndrome
Hypoparathyroidism - Autosomal Dominant	Hypocalcemia

Ectopic Thymus

Hyperphosphatemia

Hypoparathyroidism-Deafness-Renal Disease Syndrome

Barakat Syndrome	Hypoparathyroidism, Deafness, Renal Disease Syndrome
Hdr Syndrome	Hypoparathyroidism, Sensorineural Deafness, And Renal Disease

Kenny-Caffey Syndrome

Kenny Syndrome

Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia	Fbh
Fbhh	Fhh
Familial Benign Hypocalciuric Hypercalcemia	Hypocalciuric Hypercalcemia, Familial, Type 1

Hypocalciuric Hypercalcemia, Familial, Type Ii

HHC2	Familial Hypocalciuric Hypercalcemia 2
Fbh2	Familial Hypocalciuric Hypercalcemia Type 2
Hypocalciuric Hypercalcemia, Type Ii	Fhh Type 2
Familial Benign Hypercalcemia, Type Ii	Hypercalcemia, Familial Benign, Type Ii
Hypocalciuric Hypercalcemia Type Ii	Familial Benign Hypercalcemia, Type 2
Hypercalcemia, Familial Benign Type 2	Hypocalciuric Hypercalcemia, Familial, Type 2
Hypocalciuric Hypercalcemia, Familial 2	Familial Benign Hypercalcemia Type Ii
Hypocalciuric Hypercalcemia-2

Microphthalmia, Syndromic 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome	MCOPS13
Maine Microphthalmos	Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation
Syndromic Microphthalmia 13	X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome
Microphthalmia, Syndromic, 13	Microphthalmia, Syndromic, Type 13

Parathyroid Gland Disease

Parathyroid Diseases	Disease Of Parathyroid Glands
Parathyroid Disease

Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Sanjad-Sakati Syndrome	Hrd Syndrome
HRDS	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome	Richardson-Kirk Syndrome
Sss	Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures
Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay	Hypoparathyroidism With Short Stature, Mental Retardation And Seizures
Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures	Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay

Eiken Syndrome

Eiken Skeletal Dysplasia	Bone Modeling Defect Of Hands And Feet
EKNS

Testicular Thecoma

Chief Cell Adenoma

Chief Cell Adenoma Of Parathyroid Gland

Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3	Familial Hypocalciuric Hypercalcemia 3
Fbh3	Familial Hypocalciuric Hypercalcemia Type 3
Hypercalcemia, Familial Benign, Oklahoma Type	Hypocalciuric Hypercalcemia, Type Iii
Fhh Type 3	Hypocalciuric Hypercalcemia Type Iii
Familial Benign Hypercalcemia, Type Iii	Hypercalcemia, Familial Benign, Type Iii
Fbhok	Familial Benign Hypercalcemia, Oklahoma Variant
Familial Benign Hypercalcemia, Type 3	Hypercalcemia, Familial Benign, Type 3
Hypocalciuric Hypercalcemia, Familial, Type 3	Hypocalciuric Hypercalcemia, Familial 3
Familial Benign Hypercalcemia 3	Familial Benign Hypercalcemia Oklahoma Type
Familial Benign Hypocalciuric Hypercalcemia 3	Fbhh3
Fhh3

Parathyroid Carcinoma

Parathyroid Cancer	Parathyroid Neoplasms
Malignant Tumor Of Parathyroid Gland	PRTC
Carcinoma Of Parathyroid Gland	Malignant Neoplasm Of Parathyroid Gland
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Cancer
Parathyroid Neoplasm	Parathyroid Gland Carcinoma
Malignant Neoplasm Of The Parathyroid	Neoplasm Of Parathyroid Gland
Parathyroid Gland Neoplasm	Cancer Of The Parathyroid
Cancer Of The Parathyroid Gland	Malignant Neoplasm Of Parathyroid
Malignant Parathyroid Gland Neoplasm	Malignant Parathyroid Gland Tumor
Malignant Parathyroid Neoplasm	Malignant Parathyroid Tumor
Malignant Tumor Of Parathyroid	Parathyroid Adenocarcinoma
Neoplasm Of The Parathyroid Gland	Carcinoma, Parathyroid

Parathyroid Adenoma

Adenoma Of Parathyroid	Adenoma Of The Parathyroid Gland
Parathyroid Gland Adenoma

Metaphyseal Chondrodysplasia, Jansen Type

Metaphyseal Chondrodysplasia, Murk Jansen Type	Jansen'S Metaphyseal Chondrodysplasia
MCDJ	Murk Jansen Type Metaphyseal Chondrodysplasia
Jansen Type Metaphyseal Chondrodysplasia	Jansen Disease
Jansen Metaphyseal Chondrodysplasia	Jansen Metaphyseal Dysostosis
Metaphyseal Chondrodysplasia Murk Jansen Type	Chondrodysplasia, Metaphyseal, Murk Jansen Type

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders	Disorder Of Phosphorus Metabolism
Phosphorus Disorder	Phosphorus Metabolism Disorder

Mitochondrial Trifunctional Protein Deficiency

Tfp Deficiency	MTPD
Trifunctional Protein Deficiency	Trifunctional Protein Deficiency With Myopathy And Neuropathy
Tfpd	Familial Hypertrophic Cardiomyopathy
Cardiomyopathy Familial Hypertrophic	Familial Hcm
Heritable Hypertrophic Cardiomyopathy	Mtp Deficiency
Tpa Deficiency	Trifunctional Protein Deficiency, Type 2
Abetalipoproteinemia

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1	MEN1
Wermer Syndrome	Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia, Type 1	Men I
Endocrine Adenomatosis, Multiple	Mea I
Men Type I	Wermer'S Syndrome
Men1 Syndrome	Multiple Endocrine Adenomatosis
Endocrine Adenomatosis Multiple	Men 1
Familial Multiple Endocrine Neoplasia Type I	Neoplasia, Endocrine, Multiple, Type 1
Multiple Endocrine Neoplasia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05336	GCM2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GCM2	RGD	RGD:1311127
Felis catus	GCM2	VGNC	VGNC:62495
Canis familiaris	GCM2	VGNC	VGNC:41150
Macaca mulatta	GCM2	VGNC	VGNC:72904
Mus musculus	GCM2	MGD	MGI:1861438
Bos taurus	GCM2	VGNC	VGNC:53970