GCM2 (glial cells missing transcription factor 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9247
Gene name Glial cells missing transcription factor 2
Gene symbol GCM2
Synonyms (NCBI Gene)
FIH2GCMBHRPT4hGCMb
Chromosome 6
Chromosome location 6p24.2
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 ac
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs104893959 C>A,T Pathogenic Coding sequence variant, missense variant
rs104893960 C>T Pathogenic Coding sequence variant, missense variant
rs142287570 T>G Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs533942394 T>C,G Likely-pathogenic Missense variant, coding sequence variant
rs759190203 ->A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT497339 hsa-miR-548b-3p PAR-CLIP 22291592
MIRT497338 hsa-miR-4511 PAR-CLIP 22291592
MIRT497337 hsa-miR-500a-5p PAR-CLIP 22291592
MIRT497336 hsa-miR-362-5p PAR-CLIP 22291592
MIRT497335 hsa-miR-500b-5p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IMP 20190276, 27745835
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603716 4198 ENSG00000124827
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75603
Protein name Chorion-specific transcription factor GCMb (hGCMb) (GCM motif protein 2) (Glial cells missing homolog 2)
Protein 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. {ECO:0000269|PubMed:20190276, ECO:0000269|PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03615 GCM 35 → 172 GCM motif protein Family
Sequence 
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRH
LSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPN
CHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMA
SFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDV
YKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPN
DTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYY
NPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPED
TGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDV
CLSGLGSAVSYSDRVGPFFTYNNEDF
Sequence length 506
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Parathyroid hormone synthesis, secretion and action  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
170
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial hypoparathyroidism Likely pathogenic; Pathogenic rs1779961435, rs748513242, rs1554103179 RCV003479434
RCV003486503
RCV000498316
GCM2-related disorder Likely pathogenic rs532834782 RCV003932060
Hyperparathyroidism 4 Likely pathogenic; Pathogenic rs2113257238, rs2113243235, rs200283922, rs532834782 RCV001729986
RCV001834555
RCV003984247
RCV005040614
Hypoparathyroidism, familial isolated, 2 Pathogenic; Likely pathogenic rs2113242469, rs2113242520, rs2113243235, rs200283922, rs104893959, rs2532749281, rs532834782, rs886037646 RCV001375923
RCV001375924
RCV001834555
RCV005042784
RCV000006464
RCV003152937
RCV005040614
RCV003991819
RCV000054809
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia Uncertain significance; Conflicting classifications of pathogenicity rs374388110, rs142287570 RCV006281189
RCV006436758
Sarcoma Benign rs6936637 RCV005899026
Show/Hide Text Mining Associations (20)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 28609842
Adenoma Inhibit 34077544
Breast Neoplasms Associate 37628841, 40691650
Calcium Metabolism Disorders Associate 33536578
Carcinogenesis Associate 28609842
Disease Associate 29108698, 29408534
Epileptic Syndromes Associate 29108698
Hypercalciuric Hypocalcemia Familial Associate 24823460
Hyperparathyroidism Associate 28609842, 36055286
Hyperparathyroidism 1 Associate 27745835, 29108698, 38130397