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UniProtKB - Q96E14 (RMI2_HUMAN)

Entry version 140 (25 May 2022)
Sequence version 2 (01 Mar 2004)
Previous versions | rss
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Protein

RecQ-mediated genome instability protein 2

Gene

RMI2

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

Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM.

3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi44 – 114OBAdd BLAST71

<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

Complete GO annotation on QuickGO ...

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

Molecular functionDNA-binding
Biological processDNA replication

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96E14

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation
R-HSA-69473, G2/M DNA damage checkpoint
R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function
R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function

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

More...SignaLinki		Q96E14

<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:
RecQ-mediated genome instability protein 2
Short name:
hRMI2
Alternative name(s):
BLM-associated protein of 18 kDa
Short name:
BLAP18
<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:RMI2
Synonyms:C16orf75
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28349, RMI2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612426, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96E14

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000175643

<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

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

A homozygous deletion of RMI2 has been found in a family with a Bloom-like syndrome and is probable responsible for the phenotype. Patients manifest depigmented skin lesions, multiple cafe-au-lait macules, and growth deficiency. Cells from affected individuals show a high rate of sister chromatid exchange and increased chromosomal breaks.1 Publication

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>Mutagenesisi24K → A: Abolishes interaction with RMI1, TOP3A and BLM. 1 Publication1
Mutagenesisi59W → A: According to PubMed:18923083, abolishes interaction with RMI1, TOP3A and BLM. According to PubMed:18923082, does not affects interaction with RMI1 and TOP3A. 1 Publication1
Mutagenesisi100K → A: Does not affect interaction with RMI1, TOP3A and BLM. 1 Publication1
Mutagenesisi121K → A: According to PubMed:18923083, does not affect interaction with RMI1, TOP3A and BLM. According to PubMed:18923082, affects interaction with BLM and the BMI complex. 2 Publications1
Mutagenesisi135W → A: Abolishes interaction with RMI1, TOP3A and BLM. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		116028

MalaCards human disease database

More...MalaCardsi		RMI2

Open Targets

More...OpenTargetsi		ENSG00000175643

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

More...Orphaneti		508512, Intrauterine growth restriction-congenital multiple cafe-au-lait macules-increased sister chromatid exchange syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA145149635

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96E14, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RMI2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74731517

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00002975772 – 147RecQ-mediated genome instability protein 2Add BLAST146

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 residuei2N-acetylalanineCombined sources1
Modified residuei7PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated during mitosis.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96E14

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96E14

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96E14

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96E14

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

More...PaxDbi		Q96E14

PeptideAtlas

More...PeptideAtlasi		Q96E14

PRoteomics IDEntifications database

More...PRIDEi		Q96E14

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76362 [Q96E14-1]
76363 [Q96E14-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96E14

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

More...PhosphoSitePlusi		Q96E14

<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		ENSG00000175643, Expressed in ventricular zone and 161 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96E14, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96E14, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000175643, Tissue enhanced (lymphoid)

<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

Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.

2 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		125466, 28 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3301, BTR double Holliday Junction dissolution complex

Database of interacting proteins

More...DIPi		DIP-56480N

Protein interaction database and analysis system

More...IntActi		Q96E14, 12 interactors

Molecular INTeraction database

More...MINTi		Q96E14

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000310356

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96E14, 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

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96E14

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

More...SMRi		Q96E14

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 – 20DisorderedSequence analysisAdd BLAST20

<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 RMI2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S4AN, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000001653

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_2526905_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96E14

Identification of Orthologs from Complete Genome Data

More...OMAi		RVSLVWM

Database of Orthologous Groups

More...OrthoDBi		1604165at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96E14

TreeFam database of animal gene trees

More...TreeFami		TF332971

Family and domain databases

Database of protein disorder

More...DisProti		DP02895

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.40.50.140, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00419

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012340, NA-bd_OB-fold
IPR032245, RMI2

The PANTHER Classification System

More...PANTHERi		PTHR33962, PTHR33962, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16100, RMI2, 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 (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96E14-1) [UniParc]FASTAAdd to basket

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
MAAAADSFSG GPAGVRLPRS PPLKVLAEQL RRDAEGGPGA WRLSRAAAGR 
        60         70         80         90        100
GPLDLAAVWM QGRVVMADRG EARLRDPSGD FSVRGLERVP RGRPCLVPGK 
       110        120        130        140 
YVMVMGVVQA CSPEPCLQAV KMTDLSDNPI HESMWELEVE DLHRNIP
Length:147
Mass (Da):15,865
Last modified:March 1, 2004 - v2
<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:iC385825F9AB4439E
GO
Isoform 2 (identifier: Q96E14-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MAAAADSFSG...VPRGRPCLVP → MKQTQVGSLFSLGIRNPEPGPVSGTAVPRQLAWKS

Show »
Length:84
Mass (Da):9,262
Checksum:iDAFD4A80EF28023B
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L2E0I3L2E0_HUMAN
RecQ-mediated genome instability pr...
RMI2
27Annotation 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>
A0A3B3ISX4A0A3B3ISX4_HUMAN
RecQ-mediated genome instability pr...
RMI2
111Annotation 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>

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_0272871 – 98MAAAA…PCLVP → MKQTQVGSLFSLGIRNPEPG PVSGTAVPRQLAWKS in isoform 2. 1 PublicationAdd BLAST98

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
AK123764 mRNA Translation: BAG53958.1
AC009121 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85155.1
BC013040 mRNA Translation: AAH13040.2
BC022427 mRNA Translation: AAH22427.1
BC031016 mRNA Translation: AAH31016.1
BC039361 mRNA Translation: AAH39361.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10548.1 [Q96E14-1]

NCBI Reference Sequences

More...RefSeqi		NP_689521.1, NM_152308.2 [Q96E14-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000312499.6; ENSP00000310356.5; ENSG00000175643.10
ENST00000572173.1; ENSP00000461206.1; ENSG00000175643.10 [Q96E14-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		116028

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:116028

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

More...MANE-Selecti		ENST00000312499.6; ENSP00000310356.5; NM_152308.3; NP_689521.1

UCSC genome browser

More...UCSCi		uc002daw.2, human [Q96E14-1]

Keywords - Coding sequence diversityi

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
AK123764 mRNA Translation: BAG53958.1
AC009121 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85155.1
BC013040 mRNA Translation: AAH13040.2
BC022427 mRNA Translation: AAH22427.1
BC031016 mRNA Translation: AAH31016.1
BC039361 mRNA Translation: AAH39361.1
CCDSiCCDS10548.1 [Q96E14-1]
RefSeqiNP_689521.1, NM_152308.2 [Q96E14-1]

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
3MXNX-ray1.55B1-147[»]
3NBHX-ray2.00B6-147[»]
4DAYX-ray3.30B1-147[»]
AlphaFoldDBiQ96E14
SMRiQ96E14
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi125466, 28 interactors
ComplexPortaliCPX-3301, BTR double Holliday Junction dissolution complex
DIPiDIP-56480N
IntActiQ96E14, 12 interactors
MINTiQ96E14
STRINGi9606.ENSP00000310356

PTM databases

iPTMnetiQ96E14
PhosphoSitePlusiQ96E14

Genetic variation databases

BioMutaiRMI2
DMDMi74731517

Proteomic databases

EPDiQ96E14
jPOSTiQ96E14
MassIVEiQ96E14
MaxQBiQ96E14
PaxDbiQ96E14
PeptideAtlasiQ96E14
PRIDEiQ96E14
ProteomicsDBi76362 [Q96E14-1]
76363 [Q96E14-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52376, 39 antibodies from 15 providers

The DNASU plasmid repository

More...DNASUi		116028

Genome annotation databases

EnsembliENST00000312499.6; ENSP00000310356.5; ENSG00000175643.10
ENST00000572173.1; ENSP00000461206.1; ENSG00000175643.10 [Q96E14-2]
GeneIDi116028
KEGGihsa:116028
MANE-SelectiENST00000312499.6; ENSP00000310356.5; NM_152308.3; NP_689521.1
UCSCiuc002daw.2, human [Q96E14-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		116028
DisGeNETi116028

GeneCards: human genes, protein and diseases

More...GeneCardsi		RMI2
HGNCiHGNC:28349, RMI2
HPAiENSG00000175643, Tissue enhanced (lymphoid)
MalaCardsiRMI2
MIMi612426, gene
neXtProtiNX_Q96E14
OpenTargetsiENSG00000175643
Orphaneti508512, Intrauterine growth restriction-congenital multiple cafe-au-lait macules-increased sister chromatid exchange syndrome
PharmGKBiPA145149635
VEuPathDBiHostDB:ENSG00000175643

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S4AN, Eukaryota
GeneTreeiENSGT00390000001653
HOGENOMiCLU_2526905_0_0_1
InParanoidiQ96E14
OMAiRVSLVWM
OrthoDBi1604165at2759
PhylomeDBiQ96E14
TreeFamiTF332971

Enzyme and pathway databases

PathwayCommonsiQ96E14
ReactomeiR-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation
R-HSA-69473, G2/M DNA damage checkpoint
R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function
R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
SignaLinkiQ96E14

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		116028, 70 hits in 1086 CRISPR screens

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

More...GenomeRNAii		116028
PharosiQ96E14, Tbio

Protein Ontology

More...PROi		PR:Q96E14
RNActiQ96E14, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000175643, Expressed in ventricular zone and 161 other tissues
ExpressionAtlasiQ96E14, baseline and differential
GenevisibleiQ96E14, HS

Family and domain databases

DisProtiDP02895
Gene3Di2.40.50.140, 1 hit
IDEALiIID00419
InterProiView protein in InterPro
IPR012340, NA-bd_OB-fold
IPR032245, RMI2
PANTHERiPTHR33962, PTHR33962, 1 hit
PfamiView protein in Pfam
PF16100, RMI2, 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 nameiRMI2_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: Q96E14
Secondary accession number(s): B3KVZ6, Q49AE2, Q8TBL0
<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: August 21, 2007
Last sequence update: March 1, 2004
Last modified: May 25, 2022
This is version 140 of the entry and version 2 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 16
    Human chromosome 16: 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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