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UniProtKB - O14893 (GEMI2_HUMAN)

Entry version 189 (23 Feb 2022)
Sequence version 1 (01 Jan 1998)
Previous versions | rss
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Protein

Gem-associated protein 2

Gene

GEMIN2

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

The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:18984161, PubMed:9323129).

Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core) (PubMed:18984161).

In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG (5Sm) are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161).

To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A (PubMed:18984161, PubMed:9323129).

Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP (PubMed:31799625).

Within the SMN complex, GEMIN2 constrains the conformation of 5Sm, thereby promoting 5Sm binding to snRNA containing the snRNP code (a nonameric Sm site and a 3'-adjacent stem-loop), thus preventing progression of assembly until a cognate substrate is bound (PubMed:31799625, PubMed:21816274, PubMed:16314521).

5 Publications

Caution

It is uncertain whether Met-1 or Met-12 is the initiator.Curated

<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 - Biological processi

Complete GO annotation on QuickGO ...

<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

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O14893

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-191859, snRNP Assembly

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O14893

SIGNOR Signaling Network Open Resource

More...SIGNORi		O14893

<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%5Fand%5Ftaxonomy%5Fsection">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:
Gem-associated protein 2
Short name:
Gemin-2
Alternative name(s):
Component of gems 2
Survival of motor neuron protein-interacting protein 1
Short name:
SMN-interacting protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GEMIN2Imported
Synonyms:SIP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10884, GEMIN2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602595, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O14893

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000092208

<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

Keywords - Cellular componenti

Cytoplasm, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi52Y → D: Impairs binding to Sm complex proteins. 1 Publication1
Mutagenesisi213R → D: Impairs binding to SMN1. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		8487

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		GEMIN2

MalaCards human disease database

More...MalaCardsi		GEMIN2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35784

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O14893, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GEMIN2

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000874551 – 280Gem-associated protein 2Add BLAST280

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei81PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O14893

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O14893

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O14893

MaxQB - The MaxQuant DataBase

More...MaxQBi		O14893

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

More...PaxDbi		O14893

PeptideAtlas

More...PeptideAtlasi		O14893

PRoteomics IDEntifications database

More...PRIDEi		O14893

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48281 [O14893-1]
48282 [O14893-2]
48283 [O14893-3]
48284 [O14893-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O14893, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O14893

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

More...PhosphoSitePlusi		O14893

<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		ENSG00000092208, Expressed in buccal mucosa cell and 226 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O14893, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O14893, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000092208, Low tissue specificity

<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%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (PubMed:26092730). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:11714716, PubMed:9323129, PubMed:16314521, PubMed:17178713). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:18984161, PubMed:9323129, PubMed:16314521).

Interacts with GEMIN5; the interaction is direct (PubMed:11714716).

Interacts (via C-terminus) with SMN1; the interaction is direct (PubMed:21816274, PubMed:26092730, PubMed:10500148, PubMed:31799625, PubMed:17178713, PubMed:22607171, PubMed:23022347).

Interacts with GEMIN5; the interaction is direct (PubMed:17178713).

Interacts with SNRPD1; the interaction is direct (PubMed:21816274, PubMed:31799625).

Interacts with SNRPD2; the interaction is direct (PubMed:21816274, PubMed:31799625).

Interacts (via N-terminus) with SNRPF; the interaction is direct (PubMed:21816274, PubMed:31799625).

Interacts (via N-terminus) with SNRPE; the interaction is direct (PubMed:21816274, PubMed:31799625).

Interacts (via N-terminus) with SNRPG; the interaction is direct (PubMed:21816274).

11 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114059, 109 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6031, SMN complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O14893

Database of interacting proteins

More...DIPi		DIP-32605N

Protein interaction database and analysis system

More...IntActi		O14893, 59 interactors

Molecular INTeraction database

More...MINTi		O14893

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000308533

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O14893, protein

<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

Secondary structure

1280
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		O14893

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

More...SMRi		O14893

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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>Regioni1 – 39May play a minor inhibitory role in snRNA binding to 5Sm (SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG) during snRNP assembly by inserting into the RNA binding pocket of 5Sm1 PublicationAdd BLAST39

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the gemin-2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QPK4, Eukaryota

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_053222_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O14893

Identification of Orthologs from Complete Genome Data

More...OMAi		FGEKKFT

Database of Orthologous Groups

More...OrthoDBi		1235594at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O14893

TreeFam database of animal gene trees

More...TreeFami		TF105864

Family and domain databases

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00524

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017364, GEMIN2
IPR035426, Gemin2/Brr1

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04938, SIP1, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF038038, SMN_Gemin2, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

This entry has 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14893-1) [UniParc]FASTAAdd to basket
Also known as: SIP1-alpha

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRRAELAGLK TMAWVPAESA VEELMPRLLP VEPCDLTEGF DPSVPPRTPQ 
        60         70         80         90        100
EYLRRVQIEA AQCPDVVVAQ IDPKKLKRKQ SVNISLSGCQ PAPEGYSPTL 
       110        120        130        140        150
QWQQQQVAQF STVRQNVNKH RSHWKSQQLD SNVTMPKSED EEGWKKFCLG 
       160        170        180        190        200
EKLCADGAVG PATNESPGID YVQIGFPPLL SIVSRMNQAT VTSVLEYLSN 
       210        220        230        240        250
WFGERDFTPE LGRWLYALLA CLEKPLLPEA HSLIRQLARR CSEVRLLVDS 
       260        270        280
KDDERVPALN LLICLVSRYF DQRDLADEPS
Length:280
Mass (Da):31,585
Last modified:January 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:i3232F410EA98EB81
GO
Isoform 2 (identifier: O14893-2) [UniParc]FASTAAdd to basket
Also known as: SIP1-beta

The sequence of this isoform differs from the canonical sequence as follows:
     173-187: Missing.

Show »
Length:265
Mass (Da):29,931
Checksum:iFE91C496F663B825
GO
Isoform 3 (identifier: O14893-3) [UniParc]FASTAAdd to basket
Also known as: SIP1-gamma

The sequence of this isoform differs from the canonical sequence as follows:
     249-250: DS → VF
     251-280: Missing.

Show »
Length:250
Mass (Da):28,155
Checksum:i4DD0F378D5B7C837
GO
Isoform 4 (identifier: O14893-4) [UniParc]FASTAAdd to basket
Also known as: SIP1-delta

The sequence of this isoform differs from the canonical sequence as follows:
     31-44: VEPCDLTEGFDPSV → DRSSSMSRCCGSSN
     45-280: Missing.

Show »
Length:44
Mass (Da):4,826
Checksum:iA7BE4D4FDDE48411
GO
Isoform 5 (identifier: O14893-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Show »
Length:269
Mass (Da):30,358
Checksum:i38141163A6765FAE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IU42A0A3B3IU42_HUMAN
Gem-associated protein 2
GEMIN2
275Annotation score:

Annotation score:2 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>
H0YEL0H0YEL0_HUMAN
Gem-associated protein 2
GEMIN2
214Annotation score:

Annotation score:1 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>
G5EA29G5EA29_HUMAN
Gem-associated protein 2
GEMIN2
138Annotation score:

Annotation score:1 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>
H0YDP6H0YDP6_HUMAN
Gem-associated protein 2
GEMIN2
194Annotation score:

Annotation score:1 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>
H0YCF4H0YCF4_HUMAN
Gem-associated protein 2
GEMIN2
38Annotation score:

Annotation score:1 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>
S4R421S4R421_HUMAN
Gem-associated protein 2
GEMIN2
22Annotation score:

Annotation score:1 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAC16117 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0614331 – 11Missing in isoform 5. Add BLAST11
Alternative sequenceiVSP_01354331 – 44VEPCD…FDPSV → DRSSSMSRCCGSSN in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_01354445 – 280Missing in isoform 4. 1 PublicationAdd BLAST236
Alternative sequenceiVSP_013545173 – 187Missing in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_013546249 – 250DS → VF in isoform 3. 1 Publication2
Alternative sequenceiVSP_013547251 – 280Missing in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF027150 mRNA Translation: AAB82297.1
AB037701 mRNA Translation: BAB03508.1
AB037702 mRNA Translation: BAB03509.1
AB037703 mRNA Translation: BAB03510.1
AJ250932 AJ250939 Genomic DNA Translation: CAC16117.2 Different initiation.
AK313947 mRNA Translation: BAG36665.1
BC104968 mRNA Translation: AAI04969.1

NCBI Reference Sequences

More...RefSeqi		NP_001009182.1, NM_001009182.1
NP_001009183.1, NM_001009183.1
NP_003607.1, NM_003616.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000250379; ENSP00000250379; ENSG00000092208
ENST00000308317; ENSP00000308533; ENSG00000092208
ENST00000396249; ENSP00000379548; ENSG00000092208
ENST00000412033; ENSP00000416827; ENSG00000092208

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8487

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8487

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000308317.12; ENSP00000308533.7; NM_003616.3; NP_003607.2

UCSC genome browser

More...UCSCi		uc001wuq.4, human [O14893-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing

<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
AF027150 mRNA Translation: AAB82297.1
AB037701 mRNA Translation: BAB03508.1
AB037702 mRNA Translation: BAB03509.1
AB037703 mRNA Translation: BAB03510.1
AJ250932 AJ250939 Genomic DNA Translation: CAC16117.2 Different initiation.
AK313947 mRNA Translation: BAG36665.1
BC104968 mRNA Translation: AAI04969.1
RefSeqiNP_001009182.1, NM_001009182.1
NP_001009183.1, NM_001009183.1
NP_003607.1, NM_003616.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LEHNMR-A95-280[»]
5XJLX-ray2.5021-280[»]
5XJQX-ray3.2821-280[»]
5XJRX-ray3.12240-280[»]
5XJSX-ray3.38240-280[»]
5XJTX-ray2.9221-280[»]
5XJUX-ray2.58240-280[»]
BMRBiO14893
SMRiO14893
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114059, 109 interactors
ComplexPortaliCPX-6031, SMN complex
CORUMiO14893
DIPiDIP-32605N
IntActiO14893, 59 interactors
MINTiO14893
STRINGi9606.ENSP00000308533

PTM databases

GlyGeniO14893, 1 site, 1 O-linked glycan (1 site)
iPTMnetiO14893
PhosphoSitePlusiO14893

Genetic variation databases

BioMutaiGEMIN2

Proteomic databases

EPDiO14893
jPOSTiO14893
MassIVEiO14893
MaxQBiO14893
PaxDbiO14893
PeptideAtlasiO14893
PRIDEiO14893
ProteomicsDBi48281 [O14893-1]
48282 [O14893-2]
48283 [O14893-3]
48284 [O14893-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4218, 356 antibodies from 40 providers

The DNASU plasmid repository

More...DNASUi		8487

Genome annotation databases

EnsembliENST00000250379; ENSP00000250379; ENSG00000092208
ENST00000308317; ENSP00000308533; ENSG00000092208
ENST00000396249; ENSP00000379548; ENSG00000092208
ENST00000412033; ENSP00000416827; ENSG00000092208
GeneIDi8487
KEGGihsa:8487
MANE-SelectiENST00000308317.12; ENSP00000308533.7; NM_003616.3; NP_003607.2
UCSCiuc001wuq.4, human [O14893-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8487
DisGeNETi8487

GeneCards: human genes, protein and diseases

More...GeneCardsi		GEMIN2
GeneReviewsiGEMIN2
HGNCiHGNC:10884, GEMIN2
HPAiENSG00000092208, Low tissue specificity
MalaCardsiGEMIN2
MIMi602595, gene
neXtProtiNX_O14893
PharmGKBiPA35784
VEuPathDBiHostDB:ENSG00000092208

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QPK4, Eukaryota
HOGENOMiCLU_053222_0_0_1
InParanoidiO14893
OMAiFGEKKFT
OrthoDBi1235594at2759
PhylomeDBiO14893
TreeFamiTF105864

Enzyme and pathway databases

PathwayCommonsiO14893
ReactomeiR-HSA-191859, snRNP Assembly
SignaLinkiO14893
SIGNORiO14893

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8487, 242 hits in 1049 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GEMIN2, human

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

More...GenomeRNAii		8487
PharosiO14893, Tbio

Protein Ontology

More...PROi		PR:O14893
RNActiO14893, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000092208, Expressed in buccal mucosa cell and 226 other tissues
ExpressionAtlasiO14893, baseline and differential
GenevisibleiO14893, HS

Family and domain databases

IDEALiIID00524
InterProiView protein in InterPro
IPR017364, GEMIN2
IPR035426, Gemin2/Brr1
PfamiView protein in Pfam
PF04938, SIP1, 1 hit
PIRSFiPIRSF038038, SMN_Gemin2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiGEMI2_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: O14893
Secondary accession number(s): B2R9W8
, Q2M3B3, Q9H4F5, Q9NS77, Q9NS78, Q9NS79
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: February 23, 2022
This is version 189 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
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