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GCM2 glial cells missing transcription factor 2 [ Homo sapiens (human) ]

Gene ID: 9247, updated on 11-Jun-2021

Summary

Official Symbol
GCM2provided by HGNC
Official Full Name
glial cells missing transcription factor 2provided by HGNC
Primary source
HGNC:HGNC:4198
See related
Ensembl:ENSG00000124827 MIM:603716
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FIH2; GCMB; HRPT4; hGCMb
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GCM2 in Genome Data Viewer
Location:
6p24.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (10873223..10882041, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10873456..10882274, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 203 Neighboring gene transmembrane protein 14B Neighboring gene male germ cell associated kinase Neighboring gene synaptonemal complex protein 2 like Neighboring gene uncharacterized LOC101928191 Neighboring gene Sharpr-MPRA regulatory region 7443

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
GeneReviews: Not available
Hyperparathyroidism 4
MedGen: C4479229 OMIM: 617343 GeneReviews: Not available
Compare labs
Hypoparathyroidism, familial isolated, 2
MedGen: C5394383 OMIM: 618883 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
chorion-specific transcription factor GCMb
Names
GCM motif protein 2
glial cells missing 2
glial cells missing homolog 2
glial cells missing homolog b
glide/gcm protein homolog

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.

Genomic

  1. NG_008970.1 RefSeqGene

    Range
    4825..13643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004752.4NP_004743.1  chorion-specific transcription factor GCMb

    See identical proteins and their annotated locations for NP_004743.1

    Status: REVIEWED

    Source sequence(s)
    AL024498, AL357497
    Consensus CDS
    CCDS4517.1
    UniProtKB/Swiss-Prot
    O75603
    Related
    ENSP00000368805.4, ENST00000379491.5
    Conserved Domains (1) summary
    pfam03615
    Location:35172
    GCM; GCM motif protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    10873223..10882041 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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