Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9Y2K5 (R3HD2_HUMAN)

Entry version 148 (07 Apr 2021)
Sequence version 3 (12 Jun 2007)
Previous versions | rss
Add a publicationFeedback
Protein

R3H domain-containing protein 2

Gene

R3HDM2

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

<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 ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y2K5

<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:
R3H domain-containing protein 2
<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:R3HDM2
Synonyms:KIAA1002
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29167, R3HDM2

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y2K5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000179912.20

<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

<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>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

Organism-specific databases

DisGeNET

More...DisGeNETi		22864

Open Targets

More...OpenTargetsi		ENSG00000179912

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485590

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y2K5, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		R3HDM2

Domain mapping of disease mutations (DMDM)

More...DMDMi		148887413

<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_00000507871 – 976R3H domain-containing protein 2Add BLAST976

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 residuei37PhosphoserineCombined sources1
Modified residuei143PhosphoserineBy similarity1
Modified residuei330PhosphoserineCombined sources1
Modified residuei333PhosphoserineBy similarity1
Modified residuei349PhosphoserineCombined sources1
Modified residuei853PhosphoserineCombined sources1
Modified residuei855PhosphoserineCombined sources1
Modified residuei856PhosphothreonineBy similarity1
Modified residuei860PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y2K5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y2K5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y2K5

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

More...PaxDbi		Q9Y2K5

PeptideAtlas

More...PeptideAtlasi		Q9Y2K5

PRoteomics IDEntifications database

More...PRIDEi		Q9Y2K5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		7212
85824 [Q9Y2K5-1]
85825 [Q9Y2K5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y2K5

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

More...PhosphoSitePlusi		Q9Y2K5

<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		ENSG00000179912, Expressed in cerebellum and 254 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y2K5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y2K5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000179912, 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 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		116532, 119 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y2K5, 30 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000317903

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y2K5, 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

1976
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q9Y2K5

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

More...SMRi		Q9Y2K5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9Y2K5

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini169 – 232R3HPROSITE-ProRule annotationAdd BLAST64
Domaini233 – 310SUZPROSITE-ProRule annotationAdd BLAST78

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi288 – 369Ser-richAdd BLAST82
Compositional biasi404 – 694Gln-richAdd BLAST291
Compositional biasi908 – 912Poly-Gly5

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2953, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155609

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y2K5

Database of Orthologous Groups

More...OrthoDBi		137913at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y2K5

TreeFam database of animal gene trees

More...TreeFami		TF315915

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.1370.50, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001374, R3H_dom
IPR036867, R3H_dom_sf
IPR024771, SUZ

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01424, R3H, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00393, R3H, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF82708, SSF82708, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51061, R3H, 1 hit
PS51673, SUZ, 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 (3+)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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2K5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MSNSNTTQET LEIMKESEKK LVEESVNKNK FISKTPSKEE IEKECEDTSL 
        60         70         80         90        100
RQETQRRTSN HGHARKRAKS NSKLKLVRSL AVCEESSTPF ADGPLETQDI 
       110        120        130        140        150
IQLHISCPSD KEEEKSTKDV SEKEDKDKNK EKIPRKMLSR DSSQEYTDST 
       160        170        180        190        200
GIDLHEFLVN TLKKNPRDRM MLLKLEQEIL EFINDNNNQF KKFPQMTSYH 
       210        220        230        240        250
RMLLHRVAAY FGMDHNVDQT GKAVIINKTS NTRIPEQRFS EHIKDEKNTE 
       260        270        280        290        300
FQQRFILKRD DASMDRDDNQ TGQNGYLNDI RLSKEAFSSS SHKRRQIFRG 
       310        320        330        340        350
NREGLSRTSS SRQSSTDSEL KSLEPRPWSS TDSDGSVRSM RPPVTKASSF 
       360        370        380        390        400
SGISILTRGD SIGSSKGGSA GRISRPGMAL GAPEVCNQVT SSQSVRGLLP 
       410        420        430        440        450
CTAQQQQQQQ QQQLPALPPT PQQQPPLNNH MISQADDLSN PFGQMSLSRQ 
       460        470        480        490        500
GSTEAADPSA ALFQTPLISQ HPQQTSFIMA STGQPLPTSN YSTSSHAPPT 
       510        520        530        540        550
QQVLPPQGYM QPPQQIQVSY YPPGQYPNSN QQYRPLSHPV AYSPQRGQQL 
       560        570        580        590        600
PQPSQQPGLQ PMMPNQQQAA YQGMIGVQQP QNQGLLSSQR SSMGGQMQGL 
       610        620        630        640        650
VVQYTPLPSY QVPVGSDSQN VVQPPFQQPM LVPVSQSVQG GLPAAGVPVY 
       660        670        680        690        700
YSMIPPAQQN GTSPSVGFLQ PPGSEQYQMP QSPSPCSPPQ MPQQYSGVSP 
       710        720        730        740        750
SGPGVVVMQL NVPNGPQPPQ NPSMVQWSHC KYYSMDQRGQ KPGDLYSPDS 
       760        770        780        790        800
SPQANTQMSS SPVTSPTQSP APSPVTSLSS VCTGLSPLPV LTQFPRPGGP 
       810        820        830        840        850
AQGDGRYSLL GQPLQYNLSI CPPLLHGQST YTVHQGQSGL KHGNRGKRQA 
       860        870        880        890        900
LKSASTDLGT ADVVLGRVLE VTDLPEGITR TEADKLFTQL AMSGAKIQWL 
       910        920        930        940        950
KDAQGLPGGG GGDNSGTAEN GRHSDLAALY TIVAVFPSPL AAQNASLRLN 
       960        970 
NSVSRFKLRM AKKNYDLRIL ERASSQ
Length:976
Mass (Da):106,999
Last modified:June 12, 2007 - v3
<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:iD626918F71E0F815
GO
Isoform 2 (identifier: Q9Y2K5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-295: Missing.
     296-298: QIF → MIT

Show »
Length:681
Mass (Da):72,554
Checksum:i632BDEE04C6798F9
GO
Isoform 3 (identifier: Q9Y2K5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-339: Missing.
     434-434: Q → QPVPALQPSPQPVQFSPSSCPQVLLPVSPPQQYNM

Show »
Length:671
Mass (Da):71,384
Checksum:i56CF1DD7EE634B0F
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
B5MCG9B5MCG9_HUMAN
R3H domain-containing protein 2
R3HDM2
1,010Annotation 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>
B5MCU0B5MCU0_HUMAN
R3H domain-containing protein 2
R3HDM2
990Annotation 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>
A0A0U1RRA6A0A0U1RRA6_HUMAN
R3H domain-containing protein 2
R3HDM2
966Annotation 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>
H0YIX9H0YIX9_HUMAN
R3H domain-containing protein 2
R3HDM2
280Annotation 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>
H7C0E9H7C0E9_HUMAN
R3H domain-containing protein 2
R3HDM2
741Annotation 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>
C9J7N6C9J7N6_HUMAN
R3H domain-containing protein 2
R3HDM2
29Annotation 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 AAI04996 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI12227 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA76846 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti359G → S in AAH41857 (PubMed:15489334).Curated1

Natural variant

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_05971335T → A. Corresponds to variant dbSNP:rs11832661Ensembl.1

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_0573911 – 339Missing in isoform 3. 1 PublicationAdd BLAST339
Alternative sequenceiVSP_0260871 – 295Missing in isoform 2. 1 PublicationAdd BLAST295
Alternative sequenceiVSP_026088296 – 298QIF → MIT in isoform 2. 1 Publication3
Alternative sequenceiVSP_057392434Q → QPVPALQPSPQPVQFSPSSC PQVLLPVSPPQQYNM in isoform 3. 1 Publication1

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
AB023219 mRNA Translation: BAA76846.2 Frameshift.
AC126614 Genomic DNA No translation available.
AC137834 Genomic DNA No translation available.
BC041857 mRNA Translation: AAH41857.1
BC104995 mRNA Translation: AAI04996.2 Different initiation.
BC112226 mRNA Translation: AAI12227.2 Different initiation.
BC143605 mRNA Translation: AAI43606.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8937.2 [Q9Y2K5-1]

NCBI Reference Sequences

More...RefSeqi		NP_001317050.1, NM_001330121.1
NP_001317051.1, NM_001330122.1
NP_001317052.1, NM_001330123.1
NP_055740.3, NM_014925.4 [Q9Y2K5-1]
XP_016874520.1, XM_017019031.1 [Q9Y2K5-3]
XP_016874521.1, XM_017019032.1
XP_016874522.1, XM_017019033.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000347140; ENSP00000317903; ENSG00000179912 [Q9Y2K5-1]
ENST00000358907; ENSP00000351784; ENSG00000179912 [Q9Y2K5-1]
ENST00000441731; ENSP00000408536; ENSG00000179912 [Q9Y2K5-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		22864

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:22864

UCSC genome browser

More...UCSCi		uc001sns.3, human [Q9Y2K5-1]
uc001snu.3, human

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
AB023219 mRNA Translation: BAA76846.2 Frameshift.
AC126614 Genomic DNA No translation available.
AC137834 Genomic DNA No translation available.
BC041857 mRNA Translation: AAH41857.1
BC104995 mRNA Translation: AAI04996.2 Different initiation.
BC112226 mRNA Translation: AAI12227.2 Different initiation.
BC143605 mRNA Translation: AAI43606.1
CCDSiCCDS8937.2 [Q9Y2K5-1]
RefSeqiNP_001317050.1, NM_001330121.1
NP_001317051.1, NM_001330122.1
NP_001317052.1, NM_001330123.1
NP_055740.3, NM_014925.4 [Q9Y2K5-1]
XP_016874520.1, XM_017019031.1 [Q9Y2K5-3]
XP_016874521.1, XM_017019032.1
XP_016874522.1, XM_017019033.1

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
1WHRNMR-A147-257[»]
BMRBiQ9Y2K5
SMRiQ9Y2K5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116532, 119 interactors
IntActiQ9Y2K5, 30 interactors
STRINGi9606.ENSP00000317903

PTM databases

iPTMnetiQ9Y2K5
PhosphoSitePlusiQ9Y2K5

Genetic variation databases

BioMutaiR3HDM2
DMDMi148887413

Proteomic databases

EPDiQ9Y2K5
jPOSTiQ9Y2K5
MassIVEiQ9Y2K5
PaxDbiQ9Y2K5
PeptideAtlasiQ9Y2K5
PRIDEiQ9Y2K5
ProteomicsDBi7212
85824 [Q9Y2K5-1]
85825 [Q9Y2K5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28556, 51 antibodies

Genome annotation databases

EnsembliENST00000347140; ENSP00000317903; ENSG00000179912 [Q9Y2K5-1]
ENST00000358907; ENSP00000351784; ENSG00000179912 [Q9Y2K5-1]
ENST00000441731; ENSP00000408536; ENSG00000179912 [Q9Y2K5-3]
GeneIDi22864
KEGGihsa:22864
UCSCiuc001sns.3, human [Q9Y2K5-1]
uc001snu.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		22864
DisGeNETi22864

GeneCards: human genes, protein and diseases

More...GeneCardsi		R3HDM2
HGNCiHGNC:29167, R3HDM2
HPAiENSG00000179912, Low tissue specificity
neXtProtiNX_Q9Y2K5
OpenTargetsiENSG00000179912
PharmGKBiPA143485590
VEuPathDBiHostDB:ENSG00000179912.20

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2953, Eukaryota
GeneTreeiENSGT00940000155609
InParanoidiQ9Y2K5
OrthoDBi137913at2759
PhylomeDBiQ9Y2K5
TreeFamiTF315915

Enzyme and pathway databases

PathwayCommonsiQ9Y2K5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		22864, 12 hits in 995 CRISPR screens

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

More...ChiTaRSi		R3HDM2, human
EvolutionaryTraceiQ9Y2K5

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

More...GenomeRNAii		22864
PharosiQ9Y2K5, Tdark

Protein Ontology

More...PROi		PR:Q9Y2K5
RNActiQ9Y2K5, protein

Gene expression databases

BgeeiENSG00000179912, Expressed in cerebellum and 254 other tissues
ExpressionAtlasiQ9Y2K5, baseline and differential
GenevisibleiQ9Y2K5, HS

Family and domain databases

Gene3Di3.30.1370.50, 1 hit
InterProiView protein in InterPro
IPR001374, R3H_dom
IPR036867, R3H_dom_sf
IPR024771, SUZ
PfamiView protein in Pfam
PF01424, R3H, 1 hit
SMARTiView protein in SMART
SM00393, R3H, 1 hit
SUPFAMiSSF82708, SSF82708, 1 hit
PROSITEiView protein in PROSITE
PS51061, R3H, 1 hit
PS51673, SUZ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiR3HD2_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: Q9Y2K5
Secondary accession number(s): B7ZL65, Q2M1T9, Q3ZCT5
<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: October 19, 2002
Last sequence update: June 12, 2007
Last modified: April 7, 2021
This is version 148 of the entry and version 3 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again