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Protein

Chorion-specific transcription factor GCMb

Gene

GCM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi81Zinc 1PROSITE-ProRule annotation1
Metal bindingi87Zinc 2PROSITE-ProRule annotation1
Metal bindingi91Zinc 2PROSITE-ProRule annotation1
Metal bindingi118Zinc 2PROSITE-ProRule annotation1
Metal bindingi121Zinc 2PROSITE-ProRule annotation1
Metal bindingi130Zinc 1PROSITE-ProRule annotation1
Metal bindingi157Zinc 1PROSITE-ProRule annotation1
Metal bindingi159Zinc 1PROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi19 – 174GCMPROSITE-ProRule annotationAdd BLAST156

GO - Molecular functioni

  • DNA binding Source: ProtInc
  • metal ion binding Source: UniProtKB-KW
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • sequence-specific DNA binding Source: UniProtKB
  • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: GO_Central

GO - Biological processi

  • cell differentiation involved in embryonic placenta development Source: GO_Central
  • cellular calcium ion homeostasis Source: UniProtKB
  • cellular phosphate ion homeostasis Source: UniProtKB
  • gliogenesis Source: GO_Central
  • multicellular organism development Source: UniProtKB
  • parathyroid gland development Source: UniProtKB
  • transcription from RNA polymerase II promoter Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Chorion-specific transcription factor GCMb
Short name:
hGCMb
Alternative name(s):
GCM motif protein 2
Glial cells missing homolog 23 Publications
Gene namesi
Name:GCM2Imported
Synonyms:GCMB1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4198. GCM2.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hypoparathyroidism, familial isolated (FIH)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.
See also OMIM:146200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05804447R → L in FIH; autosomal recessive form; abolishes normal DNA binding ability of the protein. 2 PublicationsCorresponds to variant dbSNP:rs104893959Ensembl.1
Natural variantiVAR_05804563G → S in FIH; the mutation causes loss-of-function; abolishes transactivation capacity despite normal subcellular localization, protein stability and DNA-binding specificity. 1 PublicationCorresponds to variant dbSNP:rs104893960Ensembl.1
Natural variantiVAR_065495110R → W in FIH; abolishes DNA binding ability. 2 PublicationsCorresponds to variant dbSNP:rs780594439Ensembl.1
Natural variantiVAR_076838136 – 506Missing in FIH; transcription of mRNA, but loss of protein expression. 1 PublicationAdd BLAST371
Natural variantiVAR_065498502N → H in FIH; exerts a dominant-negative effect to abolish transactivation capacity. 1 PublicationCorresponds to variant dbSNP:rs533942394Ensembl.1
Hyperparathyroidism 4 (HRPT4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617343
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078579251Q → E in HRPT4; found on the same allele as Q-379; gain-of-function mutation; increases transcriptional activity. 1 Publication1
Natural variantiVAR_078581379L → Q in HRPT4; found on the same allele as E-251; gain-of-function mutation; increases transcriptional activity. 1 Publication1
Natural variantiVAR_065497382V → M in HRPT4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs371918069Ensembl.1
Natural variantiVAR_078582394Y → S in HRPT4; gain-of-function mutation; increases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs142287570Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9247.
MalaCardsiGCM2.
MIMi146200. phenotype.
617343. phenotype.
OpenTargetsiENSG00000124827.
Orphaneti2239. Familial isolated hypoparathyroidism due to agenesis of parathyroid gland.
PharmGKBiPA28615.

Polymorphism and mutation databases

BioMutaiGCM2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001266501 – 506Chorion-specific transcription factor GCMbAdd BLAST506

Proteomic databases

PaxDbiO75603.
PeptideAtlasiO75603.
PRIDEiO75603.

PTM databases

iPTMnetiO75603.
PhosphoSitePlusiO75603.

Expressioni

Gene expression databases

BgeeiENSG00000124827.
CleanExiHS_GCM2.
GenevisibleiO75603. HS.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi114673. 6 interactors.
IntActiO75603. 30 interactors.
STRINGi9606.ENSP00000368805.

Structurei

3D structure databases

ProteinModelPortaliO75603.
SMRiO75603.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni379 – 395C-terminal conserved inhibitory domain (CCID)1 PublicationAdd BLAST17

Domaini

The C-terminal conserved inhibitory domain (CCID) negatively regulates the transcriptional activity of the protein.1 Publication

Phylogenomic databases

eggNOGiENOG410IKM6. Eukaryota.
ENOG4110IIJ. LUCA.
GeneTreeiENSGT00390000006777.
HOGENOMiHOG000112702.
HOVERGENiHBG039461.
InParanoidiO75603.
OMAiIPCRGHS.
OrthoDBiEOG091G06SW.
PhylomeDBiO75603.
TreeFamiTF324146.

Family and domain databases

InterProiView protein in InterPro
IPR003902. Tscrpt_reg_GCM.
PfamiView protein in Pfam
PF03615. GCM. 1 hit.
ProDomiView protein in ProDom or Entries sharing at least one domain
PD014393. GCM_motif. 1 hit.
SUPFAMiSSF90073. SSF90073. 1 hit.
PROSITEiView protein in PROSITE
PS50807. GCM. 1 hit.

Sequencei

Sequence statusi: Complete.

O75603-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPAAAVQEAV GVCSYGMQLS WDINDPQMPQ ELALFDQFRE WPDGYVRFIY
60 70 80 90 100
SSDEKKAQRH LSGWAMRNTN NHNGHILKKS CLGVVVCTQA CTLPDGSRLQ
110 120 130 140 150
LRPAICDKAR LKQQKKACPN CHSALELIPC RGHSGYPVTN FWRLDGNAIF
160 170 180 190 200
FQAKGVHDHP RPESKSETEA RRSAIKRQMA SFYQPQKKRI RESEAEENQD
210 220 230 240 250
SSGHFSNIPP LENPEDFDIV TETSFPIPGQ PCPSFPKSDV YKATCDLATF
260 270 280 290 300
QGDKMPPFQK YSSPRIYLPR PPCSYELANP GYTNSSPYPT LYKDSTSIPN
310 320 330 340 350
DTDWVHLNTL QCNVNSYSSY ERSFDFTNKQ HGWKPALGKP SLVERTNHGQ
360 370 380 390 400
FQAMATRPYY NPELPCRYLT TPPPGAPALQ TVITTTTKVS YQAYQPPAMK
410 420 430 440 450
YSDSVREVKS LSSCNYAPED TGMSVYPEPW GPPVTVTRAA SPSGPPPMKI
460 470 480 490 500
AGDCRAIRPT VAIPHEPVSS RTDEAETWDV CLSGLGSAVS YSDRVGPFFT

YNNEDF
Length:506
Mass (Da):56,610
Last modified:November 1, 1998 - v1
Checksum:i1B3864F65F54DA0F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05804447R → L in FIH; autosomal recessive form; abolishes normal DNA binding ability of the protein. 2 PublicationsCorresponds to variant dbSNP:rs104893959Ensembl.1
Natural variantiVAR_04913053D → N. Corresponds to variant dbSNP:rs11963186Ensembl.1
Natural variantiVAR_05804563G → S in FIH; the mutation causes loss-of-function; abolishes transactivation capacity despite normal subcellular localization, protein stability and DNA-binding specificity. 1 PublicationCorresponds to variant dbSNP:rs104893960Ensembl.1
Natural variantiVAR_065495110R → W in FIH; abolishes DNA binding ability. 2 PublicationsCorresponds to variant dbSNP:rs780594439Ensembl.1
Natural variantiVAR_049131117A → V. Corresponds to variant dbSNP:rs35786951Ensembl.1
Natural variantiVAR_076838136 – 506Missing in FIH; transcription of mRNA, but loss of protein expression. 1 PublicationAdd BLAST371
Natural variantiVAR_049132203G → S Shows normal transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs7744163Ensembl.1
Natural variantiVAR_049133227I → V Shows normal transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs35395043Ensembl.1
Natural variantiVAR_078579251Q → E in HRPT4; found on the same allele as Q-379; gain-of-function mutation; increases transcriptional activity. 1 Publication1
Natural variantiVAR_065496282Y → D Shows normal transcriptional activity. 3 PublicationsCorresponds to variant dbSNP:rs61734277Ensembl.1
Natural variantiVAR_078580315N → D Shows normal transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs114070356Ensembl.1
Natural variantiVAR_078581379L → Q in HRPT4; found on the same allele as E-251; gain-of-function mutation; increases transcriptional activity. 1 Publication1
Natural variantiVAR_065497382V → M in HRPT4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs371918069Ensembl.1
Natural variantiVAR_078582394Y → S in HRPT4; gain-of-function mutation; increases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs142287570Ensembl.1
Natural variantiVAR_065498502N → H in FIH; exerts a dominant-negative effect to abolish transactivation capacity. 1 PublicationCorresponds to variant dbSNP:rs533942394Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF079550 mRNA. Translation: AAC33792.1.
AF091149 mRNA. Translation: AAC98097.1.
FJ655849 Genomic DNA. Translation: ACV69998.1.
AL024498, AL357497 Genomic DNA. Translation: CAI20518.1.
AL357497, AL024498 Genomic DNA. Translation: CAI16225.1.
CH471087 Genomic DNA. Translation: EAW55287.1.
BC069603 mRNA. Translation: AAH69603.1.
BC117316 mRNA. Translation: AAI17317.1.
BC117318 mRNA. Translation: AAI17319.1.
CCDSiCCDS4517.1.
RefSeqiNP_004743.1. NM_004752.3.
UniGeneiHs.227098.

Genome annotation databases

EnsembliENST00000379491; ENSP00000368805; ENSG00000124827.
GeneIDi9247.
KEGGihsa:9247.
UCSCiuc003mzn.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiGCM2_HUMAN
AccessioniPrimary (citable) accession number: O75603
Secondary accession number(s): D3GDV6, Q5THN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: November 1, 1998
Last modified: July 5, 2017
This is version 129 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot