GCM2 - glial cells missing transcription factor 2 Gene

Also Known as FIH2; GCMB; HRPT4; hGCMb

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9247

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	20190276	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15863676	GOA
enables sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	20190276	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	15728199	GOA
involved in intracellular phosphate ion homeostasis	IMP IMP: Inferred from mutant phenotype	15728199	GOA
involved in parathyroid gland development	IMP IMP: Inferred from mutant phenotype	15728199	GOA
involved in transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20190276	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	20190276	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

GCM2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GCM2	O75603	GPSM1	Homo sapiens	Q86YR5-3	Y2H Array	32296183
Intra	GCM2	O75603	GPSM1	Homo sapiens	Q86YR5-3	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	GPSM1	Homo sapiens	Q86YR5-3	Validated Y2H	32296183
Intra	GCM2	O75603	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Array	32296183
Intra	GCM2	O75603	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	KRTAP8-1	Homo sapiens	Q8IUC2	Validated Y2H	32296183
Intra	GCM2	O75603	DOK3	Homo sapiens	Q7L591-3	Validated Y2H	32296183
Intra	GCM2	O75603	DOK3	Homo sapiens	Q7L591-3	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	DOK3	Homo sapiens	Q7L591-3	Y2H Array	32296183
Intra	GCM2	O75603	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
Intra	GCM2	O75603	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	KRTAP6-2	Homo sapiens	Q3LI66	Validated Y2H	32296183
Intra	GCM2	O75603	USP54	Homo sapiens	Q70EL1-9	Validated Y2H	32296183
Intra	GCM2	O75603	USP54	Homo sapiens	Q70EL1-9	Y2H Array	32296183
Intra	GCM2	O75603	USP54	Homo sapiens	Q70EL1-9	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	ZMIZ2	Homo sapiens	Q8NF64-3	Validated Y2H	32296183
Intra	GCM2	O75603	ZMIZ2	Homo sapiens	Q8NF64-3	Y2H Array	32296183
Intra	GCM2	O75603	ZMIZ2	Homo sapiens	Q8NF64-3	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	POU6F2	Homo sapiens	P78424	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	POU6F2	Homo sapiens	P78424	Validated Y2H	32296183
Intra	GCM2	O75603	POU6F2	Homo sapiens	P78424	Y2H Array	32296183
Intra	GCM2	O75603	LHX3	Homo sapiens	Q9UBR4-2	Validated Y2H	32296183
Intra	GCM2	O75603	LHX3	Homo sapiens	Q9UBR4-2	Y2H Array	32296183
Intra	GCM2	O75603	LHX3	Homo sapiens	Q9UBR4-2	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	WWOX	Homo sapiens	Q9NZC7-5	Validated Y2H	32296183
Intra	GCM2	O75603	WWOX	Homo sapiens	Q9NZC7-5	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	WWOX	Homo sapiens	Q9NZC7-5	Y2H Array	32296183
Intra	GCM2	O75603	TBX19	Homo sapiens	O60806	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	TBX19	Homo sapiens	O60806	Y2H Array	32296183
Intra	GCM2	O75603	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	GCM2	O75603	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	GCM2	O75603	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	KRTAP7-1	Homo sapiens	Q8IUC3	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	KRTAP7-1	Homo sapiens	Q8IUC3	Validated Y2H	32296183
Intra	GCM2	O75603	KRTAP7-1	Homo sapiens	Q8IUC3	Y2H Array	32296183
Intra	GCM2	O75603	GSC2	Homo sapiens	O15499	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	GSC2	Homo sapiens	O15499	Y2H Array	32296183
Intra	GCM2	O75603	PAX8	Homo sapiens	Q06710	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	PAX8	Homo sapiens	Q06710	Y2H Array	32296183
Intra	GCM2	O75603	PAX8	Homo sapiens	Q06710	Validated Y2H	32296183
Intra	GCM2	O75603	SSBP1	Homo sapiens	Q04837	Y2H Array	32296183
Intra	GCM2	O75603	SSBP1	Homo sapiens	Q04837	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	TRAF1	Homo sapiens	Q13077	Y2H Array	32296183
Intra	GCM2	O75603	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	TRAF1	Homo sapiens	Q13077	Validated Y2H	32296183
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Validated Y2H	25416956
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Validated Y2H	25910212
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Y2H Prey Pooling	25416956
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Validated Y2H	32296183
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Y2H Array	25416956
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Y2H Array	25910212
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Y2H Array	32296183
Intra	GCM2	O75603	HSFY1	Homo sapiens	Q96LI6	Y2H Bait-Prey Pool	25910212
Intra	GCM2	O75603	CEACAM6	Homo sapiens	P40199	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	CEACAM6	Homo sapiens	P40199	Validated Y2H	32296183
Intra	GCM2	O75603	CEACAM6	Homo sapiens	P40199	Y2H Array	32296183
Intra	GCM2	O75603	MYOZ3	Homo sapiens	Q8TDC0	Validated Y2H	32296183
Intra	GCM2	O75603	MYOZ3	Homo sapiens	Q8TDC0	Y2H Array	32296183
Intra	GCM2	O75603	MYOZ3	Homo sapiens	Q8TDC0	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	RUSC1	Homo sapiens	Q9BVN2	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	RUSC1	Homo sapiens	Q9BVN2	Validated Y2H	32296183
Intra	GCM2	O75603	RUSC1	Homo sapiens	Q9BVN2	Y2H Array	32296183
Intra	GCM2	O75603	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	GCM2	O75603	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	GCM2	O75603	RBPMS	Homo sapiens	Q93062-3	Validated Y2H	25910212
Intra	GCM2	O75603	RBPMS	Homo sapiens	Q93062-3	Y2H Bait-Prey Pool	25910212
Intra	GCM2	O75603	RBPMS	Homo sapiens	Q93062-3	Y2H Array	25910212
Intra	GCM2	O75603	HOXA1	Homo sapiens	P49639	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	HOXA1	Homo sapiens	P49639	Validated Y2H	32296183
Intra	GCM2	O75603	HOXA1	Homo sapiens	P49639	Y2H Array	32296183
Intra	GCM2	O75603	FHL3	Homo sapiens	Q13643	Validated Y2H	25910212
Intra	GCM2	O75603	FHL3	Homo sapiens	Q13643	Y2H Bait-Prey Pool	25910212
Intra	GCM2	O75603	FHL3	Homo sapiens	Q13643	Y2H Array	25910212
Intra	GCM2	O75603	FHL3	Homo sapiens	Q13643	Validated Y2H	32296183
Intra	GCM2	O75603	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	FHL3	Homo sapiens	Q13643	Y2H Array	32296183
Intra	GCM2	O75603	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	25416956
Intra	GCM2	O75603	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	GCM2	O75603	PAX6	Homo sapiens	P26367	Validated Y2H	32296183
Intra	GCM2	O75603	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	CRX	Homo sapiens	O43186	Validated Y2H	25910212
Intra	GCM2	O75603	CRX	Homo sapiens	O43186	Y2H Bait-Prey Pool	25910212
Intra	GCM2	O75603	CRX	Homo sapiens	O43186	Y2H Array	25910212
Intra	GCM2	O75603	CRX	Homo sapiens	O43186	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	CRX	Homo sapiens	O43186	Y2H Array	32296183
Intra	GCM2	O75603	LASP1	Homo sapiens	Q14847-2	Validated Y2H	32296183
Intra	GCM2	O75603	LASP1	Homo sapiens	Q14847-2	Y2H Array	32296183
Intra	GCM2	O75603	LASP1	Homo sapiens	Q14847-2	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	JMJD7	Homo sapiens	P0C870	Validated Y2H	32296183
Intra	GCM2	O75603	JMJD7	Homo sapiens	P0C870	Y2H Array	32296183
Intra	GCM2	O75603	JMJD7	Homo sapiens	P0C870	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	ECM1	Homo sapiens	Q16610	Y2H Prey Pooling	32296183
Intra	GCM2	O75603	ECM1	Homo sapiens	Q16610	Validated Y2H	32296183
Intra	GCM2	O75603	ECM1	Homo sapiens	Q16610	Y2H Array	32296183
Intra	GCM2	O75603	PLEKHG4	Homo sapiens	Q58EX7	Validated Y2H	32296183
Intra	GCM2	O75603	PLEKHG4	Homo sapiens	Q58EX7	Y2H Array	32296183
Intra	GCM2	O75603	PLEKHG4	Homo sapiens	Q58EX7	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

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