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GCM2 (glial cells missing transcription factor 2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9247
Gene nameGene Name - the full gene name approved by the HGNC.
Glial cells missing transcription factor 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GCM2
SynonymsGene synonyms aliases
FIH2, GCMB, HRPT4, hGCMb
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.2
SummarySummary of gene provided in NCBI Entrez 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 ac
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Parathyroid hormone synthesis, secretion and action  
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Chondrocalcinosis Calcium pyrophosphate deposition disease rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Hypercalcemia Hypercalcemia rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hyperparathyroidism Hyperparathyroidism, Primary, HYPERPARATHYROIDISM 4, Familial Isolated Hyperparathyroidism rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170 27745835, 29199197, 27745835
Unknown
Disease name Disease term dbSNP ID References
Congenital hypoparathyroidism Congenital hypoparathyroidism
Hyperphosphatemia Hyperphosphatemia (disorder)
Hypocalcemic seizures Hypocalcemic seizures
Nephrocalcinosis Nephrocalcinosis

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