GCM2 | ENSG00000124827 | NCBI 9247

Details for: GCM2

Gene ID: 9247

Symbol: GCM2

Ensembl ID: ENSG00000124827

Description: glial cells missing transcription factor 2

Associated with

Chromatin
(GO:0000785)
Dna-binding transcription activator activity, rna polymerase ii-specific
(GO:0001228)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna binding
(GO:0003677)
Gliogenesis
(GO:0042063)
Intracellular calcium ion homeostasis
(GO:0006874)
Intracellular phosphate ion homeostasis
(GO:0030643)
Metal ion binding
(GO:0046872)
Nucleus
(GO:0005634)
Parathyroid gland development
(GO:0060017)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein binding
(GO:0005515)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Sequence-specific dna binding
(GO:0043565)
Sequence-specific double-stranded dna binding
(GO:1990837)
Transcription by rna polymerase ii
(GO:0006366)

Other Information

Proteins

Chorion-specific transcription factor GCMb

Genular Protein ID: 1322644167

Symbol: GCM2_HUMAN

Name: Chorion-specific transcription factor GCMb

UniProtKB Accession Codes:

O75603 D3GDV6 Q5THN5

Database IDs:

Citations:

PubMed ID: 9928992

Title: Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene.

PubMed ID: 9928992

DOI: 10.1016/s0014-5793(98)01650-0

PubMed ID: 10343099

Title: GCMB, a second human homolog of the fly glide/gcm gene.

PubMed ID: 10343099

DOI: 10.1159/000015210

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15728199

Title: GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

PubMed ID: 15728199

DOI: 10.1210/jc.2004-2450

PubMed ID: 15863676

Title: Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

PubMed ID: 15863676

DOI: 10.1136/jmg.2004.026898

PubMed ID: 20190276

Title: Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

PubMed ID: 20190276

DOI: 10.1093/hmg/ddq084

PubMed ID: 20463099

Title: A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

PubMed ID: 20463099

DOI: 10.1210/jc.2009-2532

PubMed ID: 21642377

Title: Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.

PubMed ID: 21642377

DOI: 10.1530/joe-10-0247

PubMed ID: 23155703

Title: A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

PubMed ID: 23155703

DOI: 10.1515/jpem-2012-0080

PubMed ID: 27745835

Title: GCM2-activating mutations in familial isolated hyperparathyroidism.

PubMed ID: 27745835

DOI: 10.1016/j.ajhg.2016.08.018

Sequence Information:

Length: 506
Mass: 56610
Checksum: 1B3864F65F54DA0F
Sequence:

MPAAAVQEAV GVCSYGMQLS WDINDPQMPQ ELALFDQFRE WPDGYVRFIY SSDEKKAQRH 
LSGWAMRNTN NHNGHILKKS CLGVVVCTQA CTLPDGSRLQ LRPAICDKAR LKQQKKACPN 
CHSALELIPC RGHSGYPVTN FWRLDGNAIF FQAKGVHDHP RPESKSETEA RRSAIKRQMA 
SFYQPQKKRI RESEAEENQD SSGHFSNIPP LENPEDFDIV TETSFPIPGQ PCPSFPKSDV 
YKATCDLATF QGDKMPPFQK YSSPRIYLPR PPCSYELANP GYTNSSPYPT LYKDSTSIPN 
DTDWVHLNTL QCNVNSYSSY ERSFDFTNKQ HGWKPALGKP SLVERTNHGQ FQAMATRPYY 
NPELPCRYLT TPPPGAPALQ TVITTTTKVS YQAYQPPAMK YSDSVREVKS LSSCNYAPED 
TGMSVYPEPW GPPVTVTRAA SPSGPPPMKI AGDCRAIRPT VAIPHEPVSS RTDEAETWDV 
CLSGLGSAVS YSDRVGPFFT YNNEDF

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: GCM2

Associated with

Other Information

Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene. PubMed ID: 9928992

GCMB, a second human homolog of the fly glide/gcm gene. PubMed ID: 10343099

The DNA sequence and analysis of human chromosome 6. PubMed ID: 14574404

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. PubMed ID: 15728199

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. PubMed ID: 15863676

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. PubMed ID: 20190276

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. PubMed ID: 20463099

Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism. PubMed ID: 21642377

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism. PubMed ID: 23155703

GCM2-activating mutations in familial isolated hyperparathyroidism. PubMed ID: 27745835