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Aliases for GCM2 Gene

Aliases for GCM2 Gene

  • Glial Cells Missing Homolog 2 (Drosophila) 2 3
  • GCM Motif Protein 2 3 4
  • HGCMb 3 4
  • GCMB 3 4
  • Glial Cells Missing (Drosophila) Homolog B 2
  • Glial Cells Missing Homolog B 3
  • Glial Cells Missing Homolog 2 4
  • Glide/Gcm Protein Homolog 3
  • Glial Cells Missing 2 3

External Ids for GCM2 Gene

Previous HGNC Symbols for GCM2 Gene

  • GCMB

Previous GeneCards Identifiers for GCM2 Gene

  • GC06M010931
  • GC06M010981
  • GC06M010749

Summaries for GCM2 Gene

Entrez Gene Summary for GCM2 Gene

  • 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]

GeneCards Summary for GCM2 Gene

GCM2 (Glial Cells Missing Homolog 2 (Drosophila)) is a Protein Coding gene. Diseases associated with GCM2 include gcm2-related familial isolated hypoparathyroidism and familial isolated hypoparathyroidism due to agenesis of parathyroid gland. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is GCM1.

UniProtKB/Swiss-Prot for GCM2 Gene

  • Probable transcriptional regulator

Gene Wiki entry for GCM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCM2 Gene

Genomics for GCM2 Gene

Regulatory Elements for GCM2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GCM2 Gene

Chromosome:
6
Start:
10,872,724 bp from pter
End:
10,886,430 bp from pter
Size:
13,707 bases
Orientation:
Minus strand

Genomic View for GCM2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GCM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCM2 Gene

Proteins for GCM2 Gene

  • Protein details for GCM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75603-GCM2_HUMAN
    Recommended name:
    Chorion-specific transcription factor GCMb
    Protein Accession:
    O75603
    Secondary Accessions:
    • D3GDV6
    • Q5THN5

    Protein attributes for GCM2 Gene

    Size:
    506 amino acids
    Molecular mass:
    56610 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GCM2 Gene

Proteomics data for GCM2 Gene at MOPED

Post-translational modifications for GCM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GCM2 Gene

Domains & Families for GCM2 Gene

Protein Domains for GCM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GCM2 Gene

Graphical View of Domain Structure for InterPro Entry

O75603

UniProtKB/Swiss-Prot:

GCM2_HUMAN :
  • Contains 1 GCM DNA-binding domain.
Domain:
  • Contains 1 GCM DNA-binding domain.
genes like me logo Genes that share domains with GCM2: view

No data available for Gene Families for GCM2 Gene

Function for GCM2 Gene

Molecular function for GCM2 Gene

UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator

Gene Ontology (GO) - Molecular Function for GCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 10343099
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding IDA 15863676
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GCM2: view
genes like me logo Genes that share phenotypes with GCM2: view

Animal Models for GCM2 Gene

MGI Knock Outs for GCM2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GCM2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GCM2 Gene

Localization for GCM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCM2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCM2 Gene COMPARTMENTS Subcellular localization image for GCM2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for GCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9928992
genes like me logo Genes that share ontologies with GCM2: view

Pathways & Interactions for GCM2 Gene

SuperPathways for GCM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006874 cellular calcium ion homeostasis IMP 15728199
GO:0007275 multicellular organismal development NAS 9928992
GO:0030643 cellular phosphate ion homeostasis IMP 15728199
genes like me logo Genes that share ontologies with GCM2: view

No data available for Pathways by source and SIGNOR curated interactions for GCM2 Gene

Drugs & Compounds for GCM2 Gene

(1) Drugs for GCM2 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
genes like me logo Genes that share compounds with GCM2: view

Transcripts for GCM2 Gene

mRNA/cDNA for GCM2 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GCM2 Gene

Glial cells missing homolog 2 (Drosophila):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GCM2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCM2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1: - -
SP2: - -
SP3: - - - -

Relevant External Links for GCM2 Gene

GeneLoc Exon Structure for
GCM2
ECgene alternative splicing isoforms for
GCM2

Expression for GCM2 Gene

mRNA expression in normal human tissues for GCM2 Gene

mRNA differential expression in normal tissues according to GTEx for GCM2 Gene

This gene is overexpressed in Testis (x21.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GCM2 Gene



SOURCE GeneReport for Unigene cluster for GCM2 Gene Hs.227098

genes like me logo Genes that share expression patterns with GCM2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GCM2 Gene

Orthologs for GCM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GCM2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GCM2 35
  • 80.3 (n)
  • 72.92 (a)
GCM2 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCM2 35
  • 85.7 (n)
  • 80.83 (a)
GCM2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcm2 35
  • 77.31 (n)
  • 68.85 (a)
Gcm2 16
Gcm2 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCM2 35
  • 99.34 (n)
  • 98.81 (a)
GCM2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcm2 35
  • 76.72 (n)
  • 68.45 (a)
oppossum
(Monodelphis domestica)
Mammalia GCM2 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCM2 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCM2 35
  • 65.24 (n)
  • 55.34 (a)
GCM2 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCM2 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcm2 35
  • 64.4 (n)
  • 59.02 (a)
zebrafish
(Danio rerio)
Actinopterygii gcm2 35
  • 59.76 (n)
  • 53.07 (a)
gcm2 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gcm 36
  • 27 (a)
ManyToMany
gcm2 36
  • 24 (a)
ManyToMany
Species with no ortholog for GCM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GCM2 Gene

ENSEMBL:
Gene Tree for GCM2 (if available)
TreeFam:
Gene Tree for GCM2 (if available)

Paralogs for GCM2 Gene

Paralogs for GCM2 Gene

(1) SIMAP similar genes for GCM2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GCM2: view

Variants for GCM2 Gene

Sequence variations from dbSNP and Humsavar for GCM2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs2076257 -- 10,875,005(+) TAGCC(A/T)AGAAG intron-variant
rs2076258 -- 10,875,803(+) ATTAA(C/T)GTATG intron-variant
rs2153156 -- 10,881,867(+) GGTGG(A/G)TTTTT upstream-variant-2KB, intron-variant
rs2275387 -- 10,881,942(+) AGAGG(C/T)TGTTT upstream-variant-2KB, intron-variant
rs3066115 -- 10,883,201(+) ttttt(-/TTTTT)gagac upstream-variant-2KB, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GCM2 Gene

Variant ID Type Subtype PubMed ID
nsv519302 CNV Loss 19592680

Variation tolerance for GCM2 Gene

Residual Variation Intolerance Score: 86.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.36; 53.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCM2 Gene

HapMap Linkage Disequilibrium report
GCM2
Human Gene Mutation Database (HGMD)
GCM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCM2 Gene

Disorders for GCM2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GCM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association
Search GCM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GCM2_HUMAN
  • Hypoparathyroidism, familial isolated (FIH) [MIM:146200]: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps. {ECO:0000269 PubMed:15728199, ECO:0000269 PubMed:15863676, ECO:0000269 PubMed:20190276, ECO:0000269 PubMed:20463099, ECO:0000269 Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GCM2

Genetic Association Database (GAD)
GCM2
Human Genome Epidemiology (HuGE) Navigator
GCM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCM2
genes like me logo Genes that share disorders with GCM2: view

No data available for Genatlas for GCM2 Gene

Publications for GCM2 Gene

  1. Ectopic production of parathyroid hormone in a patient with sporadic medullary thyroid cancer. (PMID: 19952463) Demura M. … Takeda Y. (Endocr. J. 2010) 23 67
  2. Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. (PMID: 19940031) Tomar N. … Goswami R. (Eur. J. Endocrinol. 2010) 23 67
  3. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. (PMID: 18712808) Canaff L. … Hendy G.N. (Hum. Mutat. 2009) 23 67
  4. Differentiation of human embryonic stem cells to a parathyroid-like phenotype. (PMID: 19025488) Bingham E.L. … Doherty G.M. (Stem Cells Dev. 2009) 23 67
  5. Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells. (PMID: 19257819) Mizobuchi M. … Brown A.J. (J. Bone Miner. Res. 2009) 23 67

Products for GCM2 Gene

Sources for GCM2 Gene

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