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CD244 CD244 molecule [ Homo sapiens (human) ]

Gene ID: 51744, updated on 14-Nov-2024

Summary

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Official Symbol
CD244provided by HGNC
Official Full Name
CD244 moleculeprovided by HGNC
Primary source
HGNC:HGNC:18171
See related
Ensembl:ENSG00000122223 MIM:605554; AllianceGenome:HGNC:18171
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
2B4; NAIL; Nmrk; NKR2B4; SLAMF4
Summary
This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Expression
Biased expression in spleen (RPKM 7.3), bone marrow (RPKM 3.3) and 12 other tissues See more
Orthologs
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Genomic context

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See CD244 in Genome Data Viewer
Location:
1q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160830160..160862887, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159967199..159999910, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160799950..160832677, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:160751105-160751606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1958 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:160759219-160759411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1961 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:160771561-160771810 Neighboring gene lymphocyte antigen 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160807002-160807516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1963 Neighboring gene peptidylprolyl isomerase A pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1964 Neighboring gene intelectin 1 Neighboring gene spermine synthase pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 2B4 inhibits the apoptosis of natural killer cells through phosphorylated extracellular signal-related kinase/B-cell lymphoma 2 signal pathway.
    Title: 2B4 inhibits the apoptosis of natural killer cells through phosphorylated extracellular signal-related kinase/B-cell lymphoma 2 signal pathway.
  2. Evaluation of mRNA Expression of CD244 and Its Adapter Molecules in CD8+ T Cells in Acute Leukemia.
    Title: Evaluation of mRNA Expression of CD244 and Its Adapter Molecules in CD8+ T Cells in Acute Leukemia.
  3. Expression and Clinical Significance of KLRG1 and 2B4 on T Cells in the Peripheral Blood and Tumour of Patients with Cervical Cancer.
    Title: Expression and Clinical Significance of KLRG1 and 2B4 on T Cells in the Peripheral Blood and Tumour of Patients with Cervical Cancer.
  4. Increased TOX expression concurrent with PD-1, Tim-3, and CD244 in T cells from patients with non-Hodgkin lymphoma.
    Title: Increased TOX expression concurrent with PD-1, Tim-3, and CD244 in T cells from patients with non-Hodgkin lymphoma.
  5. NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation.
    Title: NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation.
  6. Human innate lymphoid cell precursors express CD48 that modulates ILC differentiation through 2B4 signaling.
    Title: Human innate lymphoid cell precursors express CD48 that modulates ILC differentiation through 2B4 signaling.
  7. Brief Report: Diminished Coinhibitory Molecule 2B4 Expression Is Associated With Preserved iNKT Cell Phenotype in HIV Long-Term Nonprogressors.
    Title: Brief Report: Diminished Coinhibitory Molecule 2B4 Expression Is Associated With Preserved iNKT Cell Phenotype in HIV Long-Term Nonprogressors.
  8. CD244 represents a new therapeutic target in head and neck squamous cell carcinoma.
    Title: CD244 represents a new therapeutic target in head and neck squamous cell carcinoma.
  9. Increased attrition of memory T cells during sepsis requires 2B4.
    Title: Increased attrition of memory T cells during sepsis requires 2B4.
  10. The Emerging Role of CD244 Signaling in Immune Cells of the Tumor Microenvironment.
    Title: The Emerging Role of CD244 Signaling in Immune Cells of the Tumor Microenvironment.
Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Rheumatoid arthritis
MedGen: C0003873 OMIM: 180300 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD224 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC class I protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables MHC class I protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in natural killer cell activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in natural killer cell activation involved in immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in natural killer cell activation involved in immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of granzyme B production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of inositol phosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of interleukin-8 production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of type II interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
natural killer cell receptor 2B4
Names
CD244 molecule, natural killer cell receptor 2B4
NK cell activation inducing ligand NAIL
NK cell activation-inducing ligand
NK cell type I receptor protein 2B4
SLAM family member 4
h2B4
signaling lymphocytic activation molecule 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015991.1 RefSeqGene

    Range
    5016..37743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166663.2 → NP_001160135.1  natural killer cell receptor 2B4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001160135.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site at one of the coding exons compared to variant 1, resulting in an isoform (2) that is 5 aa longer than isoform 1.
    Source sequence(s)
    AF242540, BC028073, BC041607
    Consensus CDS
    CCDS53399.1
    UniProtKB/Swiss-Prot
    Q5VYI2, Q5VYI6, Q5VYI7, Q96T47, Q9BZW8, Q9NQD2, Q9NQD3, Q9Y288
    UniProtKB/TrEMBL
    B2R820
    Related
    ENSP00000357012.3, ENST00000368033.7
    Conserved Domains (2) summary
    pfam11465
    Location:22 → 127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam13895
    Location:153 → 215
    Ig_2; Immunoglobulin domain

  2. NM_001166664.2 → NP_001160136.1  natural killer cell receptor 2B4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001160136.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is lacking an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    BC028073, BC041607
    Consensus CDS
    CCDS53398.1
    UniProtKB/Swiss-Prot
    Q9BZW8
    Related
    ENSP00000313619.7, ENST00000322302.7
    Conserved Domains (1) summary
    cl11960
    Location:22 → 127
    Ig; Immunoglobulin domain

  3. NM_016382.4 → NP_057466.1  natural killer cell receptor 2B4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_057466.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    BC028073, BC041607
    Consensus CDS
    CCDS1210.1
    UniProtKB/TrEMBL
    B2R820
    Related
    ENSP00000357013.4, ENST00000368034.9
    Conserved Domains (3) summary
    pfam11465
    Location:22 → 127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam11669
    Location:192 → 269
    WBP-1; WW domain-binding protein 1
    pfam13895
    Location:131 → 210
    Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    160830160..160862887 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509623.4 → XP_011507925.1  natural killer cell receptor 2B4 isoform X4

  2. XM_047422535.1 → XP_047278491.1  natural killer cell receptor 2B4 isoform X1

  3. XM_011509622.3 → XP_011507924.1  natural killer cell receptor 2B4 isoform X3

    See identical proteins and their annotated locations for XP_011507924.1

    UniProtKB/TrEMBL
    B2R820
    Related
    ENSP00000432636.1, ENST00000492063.5
    Conserved Domains (2) summary
    pfam11465
    Location:22 → 127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam13895
    Location:148 → 210
    Ig_2; Immunoglobulin domain

  4. XM_011509621.3 → XP_011507923.1  natural killer cell receptor 2B4 isoform X2

    UniProtKB/TrEMBL
    B2R820
    Conserved Domains (2) summary
    pfam11465
    Location:22 → 127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam13895
    Location:153 → 215
    Ig_2; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159967199..159999910 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337010.1 → XP_054192985.1  natural killer cell receptor 2B4 isoform X4

  2. XM_054337007.1 → XP_054192982.1  natural killer cell receptor 2B4 isoform X1

  3. XM_054337009.1 → XP_054192984.1  natural killer cell receptor 2B4 isoform X3

  4. XM_054337008.1 → XP_054192983.1  natural killer cell receptor 2B4 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZW8.2 GenPept UniProtKB/Swiss-Prot:Q9BZW8

Gene LinkOut

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