Gcm2 glial cells missing homolog 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gcm2provided by MGI
Official Full Name: glial cells missing homolog 2provided by MGI
Primary source: MGI:MGI:1861438
See related: Ensembl:ENSMUSG00000021362 AllianceGenome:MGI:1861438
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gcm1; Gcm-rs1; Gcm1-rs2
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including cellular response to organic substance; negative regulation of apoptotic process; and parathyroid gland development. Located in nucleus. Is expressed in several structures, including branchial pouch; central nervous system; genitourinary system; gut; and retina. Used to study hypoparathyroidism. Human ortholog(s) of this gene implicated in familial isolated hypoparathyroidism and hyperparathyroidism. Orthologous to human GCM2 (glial cells missing transcription factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3; 13 20.31 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (41254903..41264511, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (41101427..41111035, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Limits to in vivo fate changes of epithelia in thymus and parathyroid by ectopic expression of transcription factors Gcm2 and Foxn1.
Title: Limits to in vivo fate changes of epithelia in thymus and parathyroid by ectopic expression of transcription factors Gcm2 and Foxn1.
results suggest that MafB regulates later steps of parathyroid development, that is, separation from the thymus and migration toward the thyroid. MafB also regulates the expression of PTH in cooperation with Gcm2
Title: MafB interacts with Gcm2 and regulates parathyroid hormone expression and parathyroid development.
Gcm2 (glial cells missing 2) are involved in the epigenetic regulation of Hes5 transcription by DNA demethylation independently of DNA replication.
Title: Mammalian Gcm genes induce Hes5 expression by active DNA demethylation and induce neural stem cells.
role of Shh signalling in patterning the pharyngeal pouches and in restricting the expression of the parathyroid marker Gcm2 in the pharyngeal epithelium
Title: Shh signalling restricts the expression of Gcm2 and controls the position of the developing parathyroids.
Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia.
Title: Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia.
GCM domain as a new type of Zn-coordinating, sequence-specific DNA-binding domain.
Title: The GCM domain is a Zn-coordinating DNA-binding domain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (5) 1 citation

General gene information

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Markers

D88611 (e-PCR)
- UniSTS:160288

Gcm2 (e-PCR), detects polymorphism
- UniSTS:506684

Gcm2 (e-PCR), detects polymorphism
- UniSTS:498237

Gcm2 (e-PCR), detects polymorphism
- UniSTS:547727

Gcm2 (e-PCR), detects polymorphism
- UniSTS:547728

Gcm2 (e-PCR), detects polymorphism
- UniSTS:526079

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISA Inferred from Sequence Alignment more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to organic substance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of epithelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glandular epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gliogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in intracellular phosphate ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular phosphate ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of epithelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within parathyroid gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in parathyroid gland development	ISO Inferred from Sequence Orthology more info
involved_in parathyroid gland development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: chorion-specific transcription factor GCMb

Names: GCM motif protein 2; mGCMb

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008104.2 → NP_032130.2 chorion-specific transcription factor GCMb

See identical proteins and their annotated locations for NP_032130.2

Status: VALIDATED

Source sequence(s)

AC158538, AF081556, BG070860

Consensus CDS

CCDS26472.1

UniProtKB/Swiss-Prot

O09102, Q2TB03, Q9QWX7, Q9Z289

UniProtKB/TrEMBL

A0A0R4J021

Related

ENSMUSP00000021791.7, ENSMUST00000021791.8

Conserved Domains (1) summary

pfam03615
Location:35 → 172

GCM; GCM motif protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

41254903..41264511 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017315354.1 → XP_017170843.1 chorion-specific transcription factor GCMb isoform X1

UniProtKB/TrEMBL

A0A286YD23

Related

ENSMUSP00000153244.2, ENSMUST00000225271.2

Conserved Domains (1) summary

pfam03615
Location:35 → 172

GCM; GCM motif protein