CD244 CD244 molecule [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160830160..160862887, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159967199..159999910, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160799950..160832677, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
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.
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.
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.
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.
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.
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.
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.
Increased attrition of memory T cells during sepsis requires 2B4.
Title: Increased attrition of memory T cells during sepsis requires 2B4.
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	Compare labs

EBI GWAS Catalog

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2348 (e-PCR)
- UniSTS:2333

SHGC-80670 (e-PCR)
- UniSTS:102225

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	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
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 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

NG_015991.1 RefSeqGene

Range

5016..37743

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

160830160..160862887 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509623.4 → XP_011507925.1 natural killer cell receptor 2B4 isoform X4
XM_047422535.1 → XP_047278491.1 natural killer cell receptor 2B4 isoform X1
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
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