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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

Probable transcriptional regulator.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi81 – 811Zinc 1PROSITE-ProRule annotation
Metal bindingi87 – 871Zinc 2PROSITE-ProRule annotation
Metal bindingi91 – 911Zinc 2PROSITE-ProRule annotation
Metal bindingi118 – 1181Zinc 2PROSITE-ProRule annotation
Metal bindingi121 – 1211Zinc 2PROSITE-ProRule annotation
Metal bindingi130 – 1301Zinc 1PROSITE-ProRule annotation
Metal bindingi157 – 1571Zinc 1PROSITE-ProRule annotation
Metal bindingi159 – 1591Zinc 1PROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi19 – 174156GCMPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • 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
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-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 2
Gene namesi
Name:GCM2
Synonyms:GCMB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4198. GCM2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hypoparathyroidism, familial isolated (FIH)5 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471R → L in FIH; autosomal recessive form; abolishes normal DNA binding ability of the protein. 2 Publications
Corresponds to variant rs104893959 [ dbSNP | Ensembl ].
VAR_058044
Natural varianti63 – 631G → S in FIH; the mutation causes loss-of-function; abolishes transactivation capacity despite normal subcellular localization, protein stability and DNA-binding specificity. 1 Publication
Corresponds to variant rs104893960 [ dbSNP | Ensembl ].
VAR_058045
Natural varianti110 – 1101R → W in FIH; abolishes DNA binding ability. 2 Publications
Corresponds to variant rs780594439 [ dbSNP | Ensembl ].
VAR_065495
Natural varianti502 – 5021N → H in FIH; exerts a dominant-negative effect to abolish transactivation capacity. 1 Publication
Corresponds to variant rs533942394 [ dbSNP | Ensembl ].
VAR_065498

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiGCM2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 506506Chorion-specific transcription factor GCMbPRO_0000126650Add
BLAST

Proteomic databases

PaxDbiO75603.
PRIDEiO75603.

PTM databases

iPTMnetiO75603.
PhosphoSiteiO75603.

Expressioni

Gene expression databases

BgeeiENSG00000124827.
CleanExiHS_GCM2.
GenevisibleiO75603. HS.

Organism-specific databases

HPAiHPA031409.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CRXO431863EBI-10188645,EBI-748171
FHL3Q136433EBI-10188645,EBI-741101
HSFY2Q96LI64EBI-10188645,EBI-3957665
RBPMSQ930623EBI-10188645,EBI-740322

Protein-protein interaction databases

BioGridi114673. 6 interactions.
IntActiO75603. 4 interactions.
STRINGi9606.ENSP00000368805.

Structurei

3D structure databases

ProteinModelPortaliO75603.
SMRiO75603. Positions 19-173.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 GCM DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

InterProiIPR003902. Tscrpt_reg_GCM.
[Graphical view]
PfamiPF03615. GCM. 1 hit.
[Graphical view]
ProDomiPD014393. GCM_motif. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMiSSF90073. SSF90073. 1 hit.
PROSITEiPS50807. GCM. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471R → L in FIH; autosomal recessive form; abolishes normal DNA binding ability of the protein. 2 Publications
Corresponds to variant rs104893959 [ dbSNP | Ensembl ].
VAR_058044
Natural varianti53 – 531D → N.
Corresponds to variant rs11963186 [ dbSNP | Ensembl ].
VAR_049130
Natural varianti63 – 631G → S in FIH; the mutation causes loss-of-function; abolishes transactivation capacity despite normal subcellular localization, protein stability and DNA-binding specificity. 1 Publication
Corresponds to variant rs104893960 [ dbSNP | Ensembl ].
VAR_058045
Natural varianti110 – 1101R → W in FIH; abolishes DNA binding ability. 2 Publications
Corresponds to variant rs780594439 [ dbSNP | Ensembl ].
VAR_065495
Natural varianti117 – 1171A → V.
Corresponds to variant rs35786951 [ dbSNP | Ensembl ].
VAR_049131
Natural varianti203 – 2031G → S.
Corresponds to variant rs7744163 [ dbSNP | Ensembl ].
VAR_049132
Natural varianti227 – 2271I → V.
Corresponds to variant rs35395043 [ dbSNP | Ensembl ].
VAR_049133
Natural varianti282 – 2821Y → D.2 Publications
Corresponds to variant rs61734277 [ dbSNP | Ensembl ].
VAR_065496
Natural varianti382 – 3821V → M Does not affect expression level, transactivational capacity and DNA binding ability. 1 Publication
Corresponds to variant rs371918069 [ dbSNP | Ensembl ].
VAR_065497
Natural varianti502 – 5021N → H in FIH; exerts a dominant-negative effect to abolish transactivation capacity. 1 Publication
Corresponds to variant rs533942394 [ dbSNP | Ensembl ].
VAR_065498

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO75603.
SMRiO75603. Positions 19-173.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114673. 6 interactions.
IntActiO75603. 4 interactions.
STRINGi9606.ENSP00000368805.

PTM databases

iPTMnetiO75603.
PhosphoSiteiO75603.

Polymorphism and mutation databases

BioMutaiGCM2.

Proteomic databases

PaxDbiO75603.
PRIDEiO75603.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9247.
GeneCardsiGCM2.
HGNCiHGNC:4198. GCM2.
HPAiHPA031409.
MalaCardsiGCM2.
MIMi146200. phenotype.
603716. gene.
neXtProtiNX_O75603.
Orphaneti2239. Familial isolated hypoparathyroidism due to agenesis of parathyroid gland.
PharmGKBiPA28615.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GeneWikiiGCM2.
GenomeRNAii9247.
PROiO75603.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124827.
CleanExiHS_GCM2.
GenevisibleiO75603. HS.

Family and domain databases

InterProiIPR003902. Tscrpt_reg_GCM.
[Graphical view]
PfamiPF03615. GCM. 1 hit.
[Graphical view]
ProDomiPD014393. GCM_motif. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMiSSF90073. SSF90073. 1 hit.
PROSITEiPS50807. GCM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGCM2_HUMAN
AccessioniPrimary (citable) accession number: O75603
Secondary accession number(s): D3GDV6, Q5THN5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: November 1, 1998
Last modified: September 7, 2016
This is version 121 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

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.