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Entry version 143 (08 May 2019)
Sequence version 1 (01 Nov 1998)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi19 – 174GCMPROSITE-ProRule annotationAdd BLAST156

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O75603

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GCM2Imported
Synonyms:GCMB1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4198 GCM2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603716 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O75603

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05804447R → L in FIH; autosomal recessive form; abolishes normal DNA binding ability of the protein. 2 PublicationsCorresponds to variant dbSNP:rs104893959EnsemblClinVar.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:rs104893960EnsemblClinVar.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, a 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 PublicationCorresponds to variant dbSNP:rs1057519581EnsemblClinVar.1
Natural variantiVAR_078581379L → Q in HRPT4; found on the same allele as E-251; gain-of-function mutation; increases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1057519582EnsemblClinVar.1
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:rs142287570EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9247

MalaCards human disease database

More...
MalaCardsi
GCM2
MIMi146200 phenotype
617343 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000124827

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99879 Familial isolated hyperparathyroidism
2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28615

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GCM2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001266501 – 506Chorion-specific transcription factor GCMbAdd BLAST506

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75603

PRoteomics IDEntifications database

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PRIDEi
O75603

ProteomicsDB human proteome resource

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ProteomicsDBi
50111

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75603

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O75603

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000124827 Expressed in 6 organ(s), highest expression level in testis

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75603 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114673, 6 interactors

Protein interaction database and analysis system

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IntActi
O75603, 34 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000368805

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75603

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni379 – 395C-terminal conserved inhibitory domain (CCID)1 PublicationAdd BLAST17

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IKM6 Eukaryota
ENOG4110IIJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000006777

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112702

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O75603

KEGG Orthology (KO)

More...
KOi
K21598

Identification of Orthologs from Complete Genome Data

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OMAi
SFYQPQK

Database of Orthologous Groups

More...
OrthoDBi
396012at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O75603

TreeFam database of animal gene trees

More...
TreeFami
TF324146

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039791 GCM
IPR036115 GCM_dom_sf
IPR003902 Tscrpt_reg_GCM

The PANTHER Classification System

More...
PANTHERi
PTHR12414 PTHR12414, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03615 GCM, 1 hit

ProDom; a protein domain database

More...
ProDomi
View protein in ProDom or Entries sharing at least one domain
PD014393 GCM_motif, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF90073 SSF90073, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50807 GCM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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:rs104893959EnsemblClinVar.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:rs104893960EnsemblClinVar.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:rs7744163EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1057519581EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs1057519582EnsemblClinVar.1
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:rs142287570EnsemblClinVar.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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF079550 mRNA Translation: AAC33792.1
AF091149 mRNA Translation: AAC98097.1
FJ655849 Genomic DNA Translation: ACV69998.1
AL024498 Genomic DNA No translation available.
AL357497 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55287.1
BC069603 mRNA Translation: AAH69603.1
BC117316 mRNA Translation: AAI17317.1
BC117318 mRNA Translation: AAI17319.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4517.1

NCBI Reference Sequences

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RefSeqi
NP_004743.1, NM_004752.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379491; ENSP00000368805; ENSG00000124827

Database of genes from NCBI RefSeq genomes

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GeneIDi
9247

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9247

UCSC genome browser

More...
UCSCi
uc003mzn.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 Genomic DNA No translation available.
AL357497 Genomic DNA No translation available.
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

3D structure databases

SMRiO75603
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114673, 6 interactors
IntActiO75603, 34 interactors
STRINGi9606.ENSP00000368805

PTM databases

iPTMnetiO75603
PhosphoSitePlusiO75603

Polymorphism and mutation databases

BioMutaiGCM2

Proteomic databases

PaxDbiO75603
PRIDEiO75603
ProteomicsDBi50111

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9247
DisGeNETi9247

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GCM2
HGNCiHGNC:4198 GCM2
MalaCardsiGCM2
MIMi146200 phenotype
603716 gene
617343 phenotype
neXtProtiNX_O75603
OpenTargetsiENSG00000124827
Orphaneti99879 Familial isolated hyperparathyroidism
2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
PharmGKBiPA28615

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKM6 Eukaryota
ENOG4110IIJ LUCA
GeneTreeiENSGT00390000006777
HOGENOMiHOG000112702
InParanoidiO75603
KOiK21598
OMAiSFYQPQK
OrthoDBi396012at2759
PhylomeDBiO75603
TreeFamiTF324146

Enzyme and pathway databases

SIGNORiO75603

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GCM2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9247

Protein Ontology

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PROi
PR:O75603

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124827 Expressed in 6 organ(s), highest expression level in testis
GenevisibleiO75603 HS

Family and domain databases

InterProiView protein in InterPro
IPR039791 GCM
IPR036115 GCM_dom_sf
IPR003902 Tscrpt_reg_GCM
PANTHERiPTHR12414 PTHR12414, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGCM2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75603
Secondary accession number(s): D3GDV6, Q5THN5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: November 1, 1998
Last modified: May 8, 2019
This is version 143 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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
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