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UniProtKB - Q9BZW8 (CD244_HUMAN)

Entry version 171 (07 Oct 2020)
Sequence version 2 (24 May 2004)
Previous versions | rss
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Protein

Natural killer cell receptor 2B4

Gene

CD244

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

Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor (PubMed:10359122, PubMed:8376943, PubMed:11714776). Activating function implicates association with SH2D1A and FYN (PubMed:15713798). Downstreaming signaling involves predominantly VAV1, and, to a lesser degree, INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1A is proposed to be dependent on INPP5D and to a lesser extent PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798). Stimulates NK cell cytotoxicity, production of IFN-gamma and granule exocytosis (PubMed:8376943, PubMed:11714776). Optimal expansion and activation of NK cells seems to be dependent on the engagement of CD244 with CD48 expressed on neighboring NK cells (By similarity). Acts as costimulator in NK activation by enhancing signals by other NK receptors such as NCR3 and NCR1 (PubMed:10741393). At early stages of NK cell differentiation may function as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved in the regulation of CD8+ T-cell proliferation; expression on activated T-cells and binding to CD488 provides costimulatory-like function for neighboring T-cells (By similarity). Inhibits inflammatory responses in dendritic cells (DCs) (By similarity).By similarity1 Publication6 Publications

<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

  • MHC class I protein binding Source: UniProtKB
  • signaling receptor activity Source: ProtInc
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 functionReceptor
Biological processAdaptive immunity, Immunity, Innate immunity

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BZW8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-202733, Cell surface interactions at the vascular wall

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

More...SignaLinki		Q9BZW8

<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:
Natural killer cell receptor 2B4
Alternative name(s):
NK cell activation-inducing ligand
Short name:
NAIL
NK cell type I receptor protein 2B4
Short name:
NKR2B4
Short name:
h2B4
SLAM family member 4
Short name:
SLAMF4
Signaling lymphocytic activation molecule 4
CD_antigen: CD244
<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:CD244
Synonyms:2B4
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000122223.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:18171, CD244

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605554, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZW8

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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 229ExtracellularSequence analysisAdd BLAST208
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Topological domaini251 – 370CytoplasmicSequence analysisAdd BLAST120

Keywords - Cellular componenti

Cell membrane, Membrane

<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>Mutagenesisi68K → A: Disrupts interaction with CD48; when associated with A-70. 1 Publication1
Mutagenesisi70E → A: Disrupts interaction with CD48; when associated with A-68. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		51744

MalaCards human disease database

More...MalaCardsi		CD244

Open Targets

More...OpenTargetsi		ENSG00000122223

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134905192

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BZW8, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CD244

Domain mapping of disease mutations (DMDM)

More...DMDMi		47605541

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 212 PublicationsAdd BLAST21
<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_000001466822 – 370Natural killer cell receptor 2B4Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi71N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi77N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi89N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi157 ↔ 199PROSITE-ProRule annotation
Glycosylationi164N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi181N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi200N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi213N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei271Phosphotyrosine3 Publications1
Modified residuei297Phosphotyrosine; by FYN3 Publications1
Modified residuei317Phosphotyrosine2 Publications1
Modified residuei342Phosphotyrosine; by FYN2 Publications1

<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

N-linked glycosylation is essential for the binding to its ligand CD48. Also O-glycosylated, in contrast, O-linked sialylation has a negative impact on ligand binding.1 Publication
Phosphorylated by FYN and CSK on tyrosine residues following activation. Coligation with inhibitory receptors such as KIR2DL1 inhibits phosphorylation upon contact of NK cells with sensitive target cells.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BZW8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BZW8

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

More...PaxDbi		Q9BZW8

PeptideAtlas

More...PeptideAtlasi		Q9BZW8

PRoteomics IDEntifications database

More...PRIDEi		Q9BZW8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79913 [Q9BZW8-1]
79914 [Q9BZW8-2]
79915 [Q9BZW8-3]
79916 [Q9BZW8-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9BZW8, 8 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZW8

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

More...PhosphoSitePlusi		Q9BZW8

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in spleen, PBL, followed by lung, liver, testis and small intestine. Expressed in all natural killer (NK) cells, monocytes and basophils, TCR-gamma/delta+ T-cells, monocytes, basophils, and on a subset of CD8+ T-cells.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000122223, Expressed in granulocyte and 121 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZW8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000122223, Group enriched (blood, lymphoid tissue)

<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

Interacts with CD48 (PubMed:9841922).

Interacts (via phosphorylated ITSM 1-4) with SH2D1A (via SH2 domain); SH2D1A probably mediates association with FYN.

Interacts (via phosphorylated ITSM 3) with PTPN11/SHP-2, INPP5D/SHIP1, PTPN6/SHP-1 and CSK; binding of SH2D1A/SAP prevents association with PTPN11, PTPN6 and CSK; conflictingly a similar association has been described for phosphorylated ITSM 1 also including GRB2 and PLCG1.

Interacts weakly (via phosphorylated ITSM 2) with PTPN11/SHP-2 and CSK (PubMed:10358138, PubMed:10934222, PubMed:12458214, PubMed:24642916, PubMed:26221972, PubMed:15713798).

Interacts with SH2D1B (PubMed:12458214, PubMed:24642916).

Interacts with PIK3R1; PI3K recruits SH2D1A (PubMed:11815622).

Interacts with MHC class I proteins; the interaction is proposed to prevent self-killing of NK cells.

By similarity12 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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119709, 25 interactors

Database of interacting proteins

More...DIPi		DIP-40331N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9BZW8

Protein interaction database and analysis system

More...IntActi		Q9BZW8, 33 interactors

Molecular INTeraction database

More...MINTi		Q9BZW8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000357012

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BZW8, 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

3D structure databases

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

More...SMRi		Q9BZW8

Database of comparative protein structure models

More...ModBasei		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

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>Domaini22 – 127Ig-like 1Add BLAST106
Domaini131 – 215Ig-like 2Add BLAST85

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi269 – 274ITSM 1By similarity6
Motifi295 – 300ITSM 2By similarity6
Motifi315 – 320ITSM 3By similarity6
Motifi340 – 345ITSM 4By similarity6

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

The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain-containing binding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A 'three-pronged' mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).By similarity2 Publications

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S7N7, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00990000203564

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_065827_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZW8

KEGG Orthology (KO)

More...KOi		K06582

Identification of Orthologs from Complete Genome Data

More...OMAi		TCFCVWR

Database of Orthologous Groups

More...OrthoDBi		1532935at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZW8

TreeFam database of animal gene trees

More...TreeFami		TF334964

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR024304, NK_rcpt_2B4
IPR024303, NK_rcpt_2B4_Ig_dom

The PANTHER Classification System

More...PANTHERi		PTHR12080:SF56, PTHR12080:SF56, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13895, Ig_2, 1 hit
PF11465, Receptor_2B4, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726, SSF48726, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50835, IG_LIKE, 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 (4)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 4 <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
Isoform 1 (identifier: Q9BZW8-1) [UniParc]FASTAAdd to basket
Also known as: H2B4-B

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
MLGQVVTLIL LLLLKVYQGK GCQGSADHVV SISGVPLQLQ PNSIQTKVDS 
        60         70         80         90        100
IAWKKLLPSQ NGFHHILKWE NGSLPSNTSN DRFSFIVKNL SLLIKAAQQQ 
       110        120        130        140        150
DSGLYCLEVT SISGKVQTAT FQVFVFESLL PDKVEKPRLQ GQGKILDRGR 
       160        170        180        190        200
CQVALSCLVS RDGNVSYAWY RGSKLIQTAG NLTYLDEEVD INGTHTYTCN 
       210        220        230        240        250
VSNPVSWESH TLNLTQDCQN AHQEFRFWPF LVIIVILSAL FLGTLACFCV 
       260        270        280        290        300
WRRKRKEKQS ETSPKEFLTI YEDVKDLKTR RNHEQEQTFP GGGSTIYSMI 
       310        320        330        340        350
QSQSSAPTSQ EPAYTLYSLI QPSRKSGSRK RNHSPSFNST IYEVIGKSQP 
       360        370
KAQNPARLSR KELENFDVYS
Length:370
Mass (Da):41,616
Last modified:May 24, 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:i959FF8DBB0BACC87
GO
Isoform 2 (identifier: Q9BZW8-2) [UniParc]FASTAAdd to basket
Also known as: H2B4-A

The sequence of this isoform differs from the canonical sequence as follows:
     127-131: Missing.

Note: Binds to CD48 with a sronger affinity than isoform 1, and interactions induces greater cytotoxicity and intracellular calcium release.Curated
Show »
Length:365
Mass (Da):41,077
Checksum:i7DEDD0EBF2E19322
GO
Isoform 3 (identifier: Q9BZW8-3) [UniParc]FASTAAdd to basket
Also known as: H2B4

The sequence of this isoform differs from the canonical sequence as follows:
     127-131: Missing.
     326-334: SGSRKRNHS → GDRFYSFSG
     335-370: Missing.

Show »
Length:329
Mass (Da):36,987
Checksum:i639FE10EA76F074E
GO
Isoform 4 (identifier: Q9BZW8-4) [UniParc]FASTAAdd to basket
Also known as: H2B4b

The sequence of this isoform differs from the canonical sequence as follows:
     128-224: Missing.

Show »
Length:273
Mass (Da):30,784
Checksum:i036514F046E2099C
GO

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 conflicti127 – 133ESLLPDK → GMAMCPM in AAK50015 (PubMed:15489334).Curated7

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_05603689N → D. Corresponds to variant dbSNP:rs34846692Ensembl.1
Natural variantiVAR_056037323S → F. Corresponds to variant dbSNP:rs12064925Ensembl.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_010397127 – 131Missing in isoform 2 and isoform 3. 7 Publications5
Alternative sequenceiVSP_010398128 – 224Missing in isoform 4. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_010399326 – 334SGSRKRNHS → GDRFYSFSG in isoform 3. 1 Publication9
Alternative sequenceiVSP_010400335 – 370Missing in isoform 3. 1 PublicationAdd BLAST36

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
AF105261 mRNA Translation: AAD32538.1
AF117711 mRNA Translation: AAF28833.1
AF145782 mRNA Translation: AAD38951.1
AF107761 mRNA Translation: AAD37838.1
AF242540 mRNA Translation: AAK00233.1
AJ245376 mRNA Translation: CAC00648.1
AJ245377 mRNA Translation: CAC00649.1
AJ245375 mRNA Translation: CAC00647.1
AL354714 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52691.1
CH471121 Genomic DNA Translation: EAW52692.1
CH471121 Genomic DNA Translation: EAW52693.1
BC028073 mRNA Translation: AAH28073.1
BC053985 mRNA Translation: AAH53985.1
AF363452 mRNA Translation: AAK50015.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1210.1 [Q9BZW8-2]
CCDS53398.1 [Q9BZW8-4]
CCDS53399.1 [Q9BZW8-1]

NCBI Reference Sequences

More...RefSeqi		NP_001160135.1, NM_001166663.1 [Q9BZW8-1]
NP_001160136.1, NM_001166664.1 [Q9BZW8-4]
NP_057466.1, NM_016382.3 [Q9BZW8-2]
XP_011507924.1, XM_011509622.2 [Q9BZW8-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000322302; ENSP00000313619; ENSG00000122223 [Q9BZW8-4]
ENST00000368033; ENSP00000357012; ENSG00000122223 [Q9BZW8-1]
ENST00000368034; ENSP00000357013; ENSG00000122223 [Q9BZW8-2]
ENST00000492063; ENSP00000432636; ENSG00000122223 [Q9BZW8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51744

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51744

UCSC genome browser

More...UCSCi		uc001fxa.4, human [Q9BZW8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF105261 mRNA Translation: AAD32538.1
AF117711 mRNA Translation: AAF28833.1
AF145782 mRNA Translation: AAD38951.1
AF107761 mRNA Translation: AAD37838.1
AF242540 mRNA Translation: AAK00233.1
AJ245376 mRNA Translation: CAC00648.1
AJ245377 mRNA Translation: CAC00649.1
AJ245375 mRNA Translation: CAC00647.1
AL354714 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52691.1
CH471121 Genomic DNA Translation: EAW52692.1
CH471121 Genomic DNA Translation: EAW52693.1
BC028073 mRNA Translation: AAH28073.1
BC053985 mRNA Translation: AAH53985.1
AF363452 mRNA Translation: AAK50015.1
CCDSiCCDS1210.1 [Q9BZW8-2]
CCDS53398.1 [Q9BZW8-4]
CCDS53399.1 [Q9BZW8-1]
RefSeqiNP_001160135.1, NM_001166663.1 [Q9BZW8-1]
NP_001160136.1, NM_001166664.1 [Q9BZW8-4]
NP_057466.1, NM_016382.3 [Q9BZW8-2]
XP_011507924.1, XM_011509622.2 [Q9BZW8-3]

3D structure databases

SMRiQ9BZW8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119709, 25 interactors
DIPiDIP-40331N
ELMiQ9BZW8
IntActiQ9BZW8, 33 interactors
MINTiQ9BZW8
STRINGi9606.ENSP00000357012

PTM databases

GlyGeniQ9BZW8, 8 sites
iPTMnetiQ9BZW8
PhosphoSitePlusiQ9BZW8

Polymorphism and mutation databases

BioMutaiCD244
DMDMi47605541

Proteomic databases

jPOSTiQ9BZW8
MassIVEiQ9BZW8
PaxDbiQ9BZW8
PeptideAtlasiQ9BZW8
PRIDEiQ9BZW8
ProteomicsDBi79913 [Q9BZW8-1]
79914 [Q9BZW8-2]
79915 [Q9BZW8-3]
79916 [Q9BZW8-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2392, 754 antibodies

The DNASU plasmid repository

More...DNASUi		51744

Genome annotation databases

EnsembliENST00000322302; ENSP00000313619; ENSG00000122223 [Q9BZW8-4]
ENST00000368033; ENSP00000357012; ENSG00000122223 [Q9BZW8-1]
ENST00000368034; ENSP00000357013; ENSG00000122223 [Q9BZW8-2]
ENST00000492063; ENSP00000432636; ENSG00000122223 [Q9BZW8-3]
GeneIDi51744
KEGGihsa:51744
UCSCiuc001fxa.4, human [Q9BZW8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51744
DisGeNETi51744
EuPathDBiHostDB:ENSG00000122223.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		CD244
HGNCiHGNC:18171, CD244
HPAiENSG00000122223, Group enriched (blood, lymphoid tissue)
MalaCardsiCD244
MIMi605554, gene
neXtProtiNX_Q9BZW8
OpenTargetsiENSG00000122223
PharmGKBiPA134905192

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S7N7, Eukaryota
GeneTreeiENSGT00990000203564
HOGENOMiCLU_065827_0_0_1
InParanoidiQ9BZW8
KOiK06582
OMAiTCFCVWR
OrthoDBi1532935at2759
PhylomeDBiQ9BZW8
TreeFamiTF334964

Enzyme and pathway databases

PathwayCommonsiQ9BZW8
ReactomeiR-HSA-202733, Cell surface interactions at the vascular wall
SignaLinkiQ9BZW8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51744, 10 hits in 863 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CD244

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

More...GenomeRNAii		51744
PharosiQ9BZW8, Tbio

Protein Ontology

More...PROi		PR:Q9BZW8
RNActiQ9BZW8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122223, Expressed in granulocyte and 121 other tissues
GenevisibleiQ9BZW8, HS

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR024304, NK_rcpt_2B4
IPR024303, NK_rcpt_2B4_Ig_dom
PANTHERiPTHR12080:SF56, PTHR12080:SF56, 1 hit
PfamiView protein in Pfam
PF13895, Ig_2, 1 hit
PF11465, Receptor_2B4, 1 hit
SUPFAMiSSF48726, SSF48726, 2 hits
PROSITEiView protein in PROSITE
PS50835, IG_LIKE, 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 nameiCD244_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: Q9BZW8
Secondary accession number(s): Q5VYI2
, Q5VYI6, Q5VYI7, Q96T47, Q9NQD2, Q9NQD3, Q9Y288
<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: May 24, 2004
Last sequence update: May 24, 2004
Last modified: October 7, 2020
This is version 171 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

Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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