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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
  • Glial Cells Missing (Drosophila) Homolog B 2
  • Glial Cells Missing Homolog 2 (Drosophila) 2
  • Chorion-Specific Transcription Factor GCMb 3
  • 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 Hypoparathyroidism, X-Linked. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCM2 Gene

Genomics for GCM2 Gene

Regulatory Elements for GCM2 Gene

Enhancers for GCM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G011010 1.5 Ensembl ENCODE dbSUPER 9.9 -125.5 -125547 3.3 FOXA2 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 DEK ELOVL2-AS1 SYCP2L ELOVL2 GCM2 ENSG00000235051 LOC100421248 LOC101928191
GH06G010425 1.5 Ensembl ENCODE dbSUPER 9.3 +457.5 457503 7.0 PKNOX1 ATF1 CREB3L1 ZFP64 ZNF48 YY1 ZNF766 ZMIZ1 DEK REST GCNT2 ENSG00000235051 GCM2 SYCP2L ENSG00000228478 MIR5689HG
GH06G011241 1.5 Ensembl ENCODE dbSUPER 9.3 -355.4 -355390 0.4 FOXA2 ZFP64 ARID4B DMAP1 ZNF48 YY1 ZNF143 SP5 NFYC MXD4 NEDD9 SYCP2L GCM2 ENSG00000235051 GC06M011208 LOC105374925
GH06G010837 1.1 ENCODE 10.9 +48.2 48197 2.3 HDGF FOXA2 PKNOX1 ARNT AGO1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ENSG00000235051 GCM2 SYCP2L GCNT2 MAK RNA5SP203
GH06G010954 1 ENCODE 10.8 -68.3 -68293 0.2 ATF1 MLX WRNIP1 ARID4B ZNF2 ZNF48 YY1 ZNF143 SP5 YY2 ELOVL2 ELOVL2-AS1 GCM2 SYCP2L ENSG00000235051 LOC101928191 LOC100421248
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GCM2 on UCSC Golden Path with GeneCards custom track

Promoters for GCM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000193042 -670 1001 PKNOX1 CREB3L1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 CBX5 ZNF548

Genomic Location for GCM2 Gene

10,872,724 bp from pter
10,886,430 bp from pter
13,707 bases
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:
    Recommended name:
    Chorion-specific transcription factor GCMb
    Protein Accession:
    Secondary Accessions:
    • D3GDV6
    • Q5THN5

    Protein attributes for GCM2 Gene

    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

Protein Domains for GCM2 Gene


Suggested Antigen Peptide Sequences for GCM2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IMP 20190276
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IBA --
GO:0003677 DNA binding TAS 10343099
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding IDA,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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GCM2

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

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 NAS 9928992
genes like me logo Genes that share ontologies with GCM2: view

Pathways & Interactions 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:0006366 transcription from RNA polymerase II promoter IMP,IEA 20190276
GO:0006874 cellular calcium ion homeostasis IMP 15728199
GO:0007275 multicellular organism development NAS 9928992
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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GCM2

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
ECgene alternative splicing isoforms for

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, PaxDb, and MOPED for GCM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GCM2 Gene:


SOURCE GeneReport for Unigene cluster for GCM2 Gene:


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
  • cardiovascular
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • pelvis
  • 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
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GCM2: view

Primer Products

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
(Pan troglodytes)
Mammalia GCM2 34 35
  • 99.34 (n)
(Canis familiaris)
Mammalia GCM2 34 35
  • 85.7 (n)
(Bos Taurus)
Mammalia GCM2 34 35
  • 80.3 (n)
(Mus musculus)
Mammalia Gcm2 16 35 34
  • 77.31 (n)
(Rattus norvegicus)
Mammalia Gcm2 34
  • 76.72 (n)
(Monodelphis domestica)
Mammalia GCM2 35
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia GCM2 35
  • 61 (a)
(Gallus gallus)
Aves GCM2 34 35
  • 65.24 (n)
(Anolis carolinensis)
Reptilia GCM2 35
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gcm2 34
  • 64.4 (n)
(Danio rerio)
Actinopterygii gcm2 34 35
  • 59.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta gcm 35
  • 27 (a)
gcm2 35
  • 24 (a)
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

Gene Tree for GCM2 (if available)
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
rs104893959 Pathogenic, Hypoparathyroidism, familial isolated (FIH) [MIM:146200] 10,877,343(-) TGTGC(A/G/T)CTTCA reference, missense
rs104893960 Pathogenic, Hypoparathyroidism, familial isolated (FIH) [MIM:146200] 10,877,296(-) TGAGC(A/G)GCTGG reference, missense
rs533942394 Likely pathogenic, Hypoparathyroidism, familial isolated (FIH) [MIM:146200] 10,874,012(+) ATTGT(C/G/T)GTAGG reference, missense
rs780594439 Hypoparathyroidism, familial isolated (FIH) [MIM:146200] 10,877,155(+) CAGCC(A/G)TGCCT reference, missense
rs1057519581 Pathogenic 10,874,765(-) CCTTT(C/G)AAGGA reference, missense

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)

Relevant External Links for GCM2 Gene

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

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

Disorders for GCM2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypoparathyroidism, familial isolated
  • hypoparathyroidism, autosomal dominant
hypoparathyroidism, x-linked
  • hypoparathyroidism x-linked
gcm2-related familial isolated hypoparathyroidism
  • hypoparathyroidism, idiopathic
hypocalcemia, autosomal dominant
  • hypocalcemia, autosomal dominant, with bartter syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GCM2 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for GCM2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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. (Eur. J. Endocrinol. 2010) 3 22 46 64
  2. GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. (PMID: 15728199) Thomee C. … Abramowicz M.J. (J. Clin. Endocrinol. Metab. 2005) 3 4 22 64
  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 Lett. 1999) 2 3 4 64
  4. A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism. (PMID: 23155703) Doyle D. … Levine M.A. (J. Pediatr. Endocrinol. Metab. 2012) 3 4 64
  5. Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism. (PMID: 21642377) Mannstadt M. … Juppner H. (J. Endocrinol. 2011) 3 4 64

Products for GCM2 Gene

Sources for GCM2 Gene

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