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CD244 CD244 molecule [ Homo sapiens (human) ]

Gene ID: 51744, updated on 21-Dec-2019

Summary

Official Symbol
CD244provided by HGNC
Official Full Name
CD244 moleculeprovided by HGNC
Primary source
HGNC:HGNC:18171
See related
Ensembl:ENSG00000122223 MIM:605554
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

Genomic context

See CD244 in Genome Data Viewer
Location:
1q23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (160830160..160862892, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160799950..160832692, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371470 Neighboring gene lymphocyte antigen 9 Neighboring gene peptidylprolyl isomerase A pseudogene 37 Neighboring gene intelectin 1 Neighboring gene spermine synthase pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class I protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001166663.2NP_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
    Q9BZW8
    Related
    ENSP00000357012.3, ENST00000368033.7
    Conserved Domains (2) summary
    pfam11465
    Location:22127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam13895
    Location:153215
    Ig_2; Immunoglobulin domain
  2. NM_001166664.2NP_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:22127
    Ig; Immunoglobulin domain
  3. NM_016382.4NP_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/Swiss-Prot
    Q9BZW8
    Related
    ENSP00000357013.4, ENST00000368034.9
    Conserved Domains (3) summary
    pfam11465
    Location:22127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam11669
    Location:192269
    WBP-1; WW domain-binding protein 1
    pfam13895
    Location:131210
    Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    160830160..160862892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509623.3XP_011507925.1  natural killer cell receptor 2B4 isoform X3

  2. XM_011509622.2XP_011507924.1  natural killer cell receptor 2B4 isoform X2

    See identical proteins and their annotated locations for XP_011507924.1

    UniProtKB/Swiss-Prot
    Q9BZW8
    Related
    ENSP00000432636.1, ENST00000492063.5
    Conserved Domains (2) summary
    pfam11465
    Location:22127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam13895
    Location:148210
    Ig_2; Immunoglobulin domain
  3. XM_011509621.2XP_011507923.1  natural killer cell receptor 2B4 isoform X1

    Conserved Domains (2) summary
    pfam11465
    Location:22127
    Receptor_2B4; Natural killer cell receptor 2B4
    pfam13895
    Location:153215
    Ig_2; Immunoglobulin domain

RNA

  1. XR_001737229.1 RNA Sequence

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