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Aliases for GCM2 Gene

Aliases for GCM2 Gene

  • Glial Cells Missing Homolog 2 2 3 4 5
  • GCM Motif Protein 2 3 4
  • HGCMb 3 4
  • GCMB 3 4
  • Chorion-Specific Transcription Factor GCMb 3
  • Glial Cells Missing (Drosophila) Homolog B 2
  • Glial Cells Missing Homolog 2 (Drosophila) 2
  • Glial Cells Missing Homolog B 3
  • Glide/Gcm Protein Homolog 3
  • Glial Cells Missing 2 3
  • HRPT4 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) is a Protein Coding gene. Diseases associated with GCM2 include Hypoparathyroidism, Familial Isolated and Hyperparathyroidism 4. Among its related pathways are Parathyroid hormone synthesis, secretion and action. Gene Ontology (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

  • Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development.

Gene Wiki entry for GCM2 Gene

Additional gene information for GCM2 Gene

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

Genomics for GCM2 Gene

GeneHancer (GH) Regulatory Elements for GCM2 Gene

Promoters and enhancers for GCM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J010886 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.7 -670 1.9 PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 CBX5 E2F8 SYCP2L GCM2 LOC100422564 LINC02522 MIR5689HG ENSG00000228478 MRPL48P1 ENSG00000233656 ENSG00000242753 RNA5SP203
GH06J010837 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.9 +48.2 48196 2.3 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 MAK ENSG00000235051 SYCP2L GCM2 GCNT2 RNA5SP203 ENSG00000272162 TMEM14B
GH06J011042 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.3 -157.1 -157077 2.3 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZNF766 CBX5 ZNF213 ZNF416 ZNF143 ELOVL2 ELOVL2-AS1 PIR47110 RNA5SP203 TFAP2A-AS1 SYCP2L GCM2 ENSG00000235051 HIVEP1 ERVFRD-1
GH06J010554 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 8.9 +329.7 329736 4.5 MEIS2 MXI1 PKNOX1 JUN MAX SIN3A YY1 ETS1 ZNF335 POLR2A GCNT2 GCNT2P C6orf52 PAK1IP1 SYCP2L GCM2 ENSG00000235051 GC06M010576 LOC101928146
GH06J010425 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 9.3 +457.5 457503 7 PKNOX1 ATF1 ZFP64 YY1 ZNF766 ARID2 ZNF143 ATF7 DEK REST GCNT2 TMEM14C GCM2 SYCP2L ENSG00000235051 ENSG00000228478 LINC00518 MIR5689HG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GCM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCM2 gene promoter:
  • p53
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • Pax-2
  • POU2F1a
  • POU2F1
  • GATA-1
  • Pax-2a
  • Bach2

Genomic Locations for GCM2 Gene

Genomic Locations for GCM2 Gene
chr6:10,872,724-10,886,430
(GRCh38/hg38)
Size:
13,707 bases
Orientation:
Minus strand
chr6:10,873,456-10,882,174
(GRCh37/hg19)
Size:
8,719 bases
Orientation:
Minus strand

Genomic View for GCM2 Gene

Genes around GCM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GCM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GCM2 Gene

Domains & Families for GCM2 Gene

Gene Families for GCM2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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 :
  • The C-terminal conserved inhibitory domain (CCID) negatively regulates the transcriptional activity of the protein.
Domain:
  • The C-terminal conserved inhibitory domain (CCID) negatively regulates the transcriptional activity of the protein.
genes like me logo Genes that share domains with GCM2: view

Function for GCM2 Gene

Molecular function for GCM2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development.

Phenotypes From GWAS Catalog for GCM2 Gene

Gene Ontology (GO) - Molecular Function for GCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0003677 DNA binding TAS 10343099
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding IMP 20190276
genes like me logo Genes that share ontologies with GCM2: view
genes like me logo Genes that share phenotypes with GCM2: view

Human Phenotype Ontology for GCM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCM2 Gene

MGI Knock Outs for GCM2:

Animal Model Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCM2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GCM2 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GCM2 Gene

Pathways & Interactions for GCM2 Gene

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

Pathways by source for GCM2 Gene

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:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II IMP 20190276
GO:0006874 cellular calcium ion homeostasis IMP 15728199
genes like me logo Genes that share ontologies with GCM2: view

No data available for 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
genes like me logo Genes that share compounds with GCM2: view

Transcripts for GCM2 Gene

mRNA/cDNA for GCM2 Gene

(1) 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for GCM2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GCM2 Gene:

GCM2

SOURCE GeneReport for Unigene cluster for GCM2 Gene:

Hs.227098

Evidence on tissue expression from TISSUES for GCM2 Gene

  • Nervous system(4.2)
  • Thyroid gland(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GCM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GCM2: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GCM2 34 33
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GCM2 34 33
  • 85.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GCM2 34 33
  • 80.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gcm2 16 34 33
  • 77.31 (n)
rat
(Rattus norvegicus)
Mammalia Gcm2 33
  • 76.72 (n)
oppossum
(Monodelphis domestica)
Mammalia GCM2 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCM2 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCM2 34 33
  • 65.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCM2 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcm2 33
  • 64.4 (n)
zebrafish
(Danio rerio)
Actinopterygii gcm2 34 33
  • 59.76 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gcm 34
  • 27 (a)
ManyToMany
gcm2 34
  • 24 (a)
ManyToMany
Species where no ortholog for GCM2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GCM2: view image

Paralogs for GCM2 Gene

Paralogs for GCM2 Gene

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

  • GCM2_HUMAN
  • D3GDV5_HUMAN
  • D3GDV6_HUMAN
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 Variation AA Info Type
rs1018739748 uncertain-significance, Hypoparathyroidism familial isolated 10,873,346(-) A/G 3_prime_UTR_variant
rs1033260761 uncertain-significance, Hypoparathyroidism familial isolated 10,877,218(-) G/C coding_sequence_variant, missense_variant
rs104893959 pathogenic, Hypoparathyroidism familial isolated, Hypoparathyroidism, familial isolated (FIH) [MIM:146200] 10,877,343(-) C/A/T coding_sequence_variant, missense_variant
rs104893960 pathogenic, Hypoparathyroidism familial isolated, Hypoparathyroidism, familial isolated (FIH) [MIM:146200] 10,877,296(-) C/T coding_sequence_variant, missense_variant
rs1057519581 pathogenic, Hyperparathyroidism 4, 4 (HRPT4) [MIM:617343] 10,874,765(-) G/C coding_sequence_variant, missense_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: 86.8% 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)

Additional Variant Information for GCM2 Gene

Human Gene Mutation Database (HGMD)
GCM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCM2

SNP Genotyping and Copy Number Assay Products

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

Disorders for GCM2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for GCM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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 PubMed:23155703, ECO:0000269 Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperparathyroidism 4 (HRPT4) [MIM:617343]: A form of familial primary hyperparathyroidism, an hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. {ECO:0000269 PubMed:27745835}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GCM2

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

No data available for Genatlas for GCM2 Gene

Publications for GCM2 Gene

  1. 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 (European journal of endocrinology 2010) 3 22 44 58
  2. GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. (PMID: 15728199) Thomée C … Abramowicz MJ (The Journal of clinical endocrinology and metabolism 2005) 3 4 22 58
  3. Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene. (PMID: 9928992) Kanemura Y … Yoshimine T (FEBS letters 1999) 2 3 4 58
  4. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. (PMID: 27745835) Guan B … Agarwal SK (American journal of human genetics 2016) 3 4 58
  5. A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism. (PMID: 23155703) Doyle D … Levine MA (Journal of pediatric endocrinology & metabolism : JPEM 2012) 3 4 58

Products for GCM2 Gene

Sources for GCM2 Gene

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