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Cd247 CD247 antigen [ Mus musculus (house mouse) ]

Gene ID: 12503, updated on 2-Nov-2024

Summary

Official Symbol
Cd247provided by MGI
Official Full Name
CD247 antigenprovided by MGI
Primary source
MGI:MGI:88334
See related
Ensembl:ENSMUSG00000005763 AllianceGenome:MGI:88334
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cd3; T3z; Cd3h; Cd3z; Tcrk; Tcrz; Cd3-eta; Cd3zeta; Cd3-zeta; 4930549J05Rik; A430104F18Rik
Summary
Predicted to enable protein heterodimerization activity; protein homodimerization activity; and protein tyrosine kinase binding activity. Acts upstream of or within T cell receptor signaling pathway and positive regulation of protein localization to cell surface. Located in Golgi apparatus and plasma membrane. Part of alpha-beta T cell receptor complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in immunodeficiency 25. Orthologous to human CD247 (CD247 molecule). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in thymus adult (RPKM 43.2), spleen adult (RPKM 5.1) and 2 other tissues See more
Orthologs
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Genomic context

See Cd247 in Genome Data Viewer
Location:
1 H2.3; 1 73.14 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (165607514..165698722)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (165779952..165871153)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11104 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:167648574-167648683 Neighboring gene STARR-positive B cell enhancer ABC_E1572 Neighboring gene predicted gene, 51752 Neighboring gene STARR-positive B cell enhancer ABC_E4374 Neighboring gene STARR-positive B cell enhancer ABC_E7771 Neighboring gene STARR-positive B cell enhancer ABC_E9064 Neighboring gene cellular repressor of E1A-stimulated genes 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:167732146-167732347 Neighboring gene predicted gene, 23402 Neighboring gene STARR-seq mESC enhancer starr_02912 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:167775596-167775783 Neighboring gene predicted gene, 32999 Neighboring gene POU domain, class 2, transcription factor 1 Neighboring gene STARR-seq mESC enhancer starr_02913 Neighboring gene STARR-positive B cell enhancer ABC_E3324 Neighboring gene STARR-positive B cell enhancer ABC_E9065 Neighboring gene STARR-positive B cell enhancer ABC_E2581 Neighboring gene STARR-positive B cell enhancer ABC_E4375 Neighboring gene STARR-positive B cell enhancer ABC_E4376 Neighboring gene STARR-positive B cell enhancer mm9_chr1:167878460-167878761 Neighboring gene heat shock protein 8 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E2582 Neighboring gene STARR-seq mESC enhancer starr_02914 Neighboring gene STARR-positive B cell enhancer ABC_E798 Neighboring gene STARR-seq mESC enhancer starr_02915 Neighboring gene STARR-seq mESC enhancer starr_02916 Neighboring gene predicted gene, 53642

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (2) 
  • Targeted (7)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables protein tyrosine kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of Fc-gamma receptor III complex ISO
Inferred from Sequence Orthology
more info
 
part_of Fc-gamma receptor III complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
part_of T cell receptor complex ISO
Inferred from Sequence Orthology
more info
 
part_of alpha-beta T cell receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of alpha-beta T cell receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of alpha-beta T cell receptor complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
PubMed 

General protein information

Preferred Names
CD247 antigen
Names
CD3 antigen, zeta polypeptide
CD3-zeta/eta
T-cell receptor T3 eta chain
T-cell surface glycoprotein CD3 zeta chain

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.

mRNA and Protein(s)

  1. NM_001113391.2NP_001106862.1  CD247 antigen isoform zeta precursor

    See identical proteins and their annotated locations for NP_001106862.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (zeta) encodes the shortest isoform (zeta).
    Source sequence(s)
    AC093371, AK138774, BC052824, BM240376
    Consensus CDS
    CCDS48427.1
    UniProtKB/Swiss-Prot
    P24161, P29020, Q9D3G3
    Related
    ENSMUSP00000005907.6, ENSMUST00000005907.12
    Conserved Domains (3) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam02189
    Location:139158
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
  2. NM_001113392.2NP_001106863.1  CD247 antigen isoform iota precursor

    See identical proteins and their annotated locations for NP_001106863.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (iota) has alternate exon structure in the 3' coding region and 3' UTR, compared to variant zeta. The resulting isoform (iota) has a distinct C-terminus and is longer than isoform zeta.
    Source sequence(s)
    AC093371, AK138774
    Consensus CDS
    CCDS48429.1
    UniProtKB/TrEMBL
    Q3UU54
    Related
    ENSMUSP00000124297.2, ENSMUST00000161971.8
    Conserved Domains (2) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
  3. NM_001113393.2NP_001106864.2  CD247 antigen isoform theta precursor

    See identical proteins and their annotated locations for NP_001106864.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (theta) uses an alternate in-frame splice site in the central coding region, and has alternate exon structure in the 3' coding region and 3' UTR, compared to variant zeta. The resulting isoform (theta) has a distinct C-terminus and is longer than isoform zeta.
    Source sequence(s)
    AC093371, AC124587
    Consensus CDS
    CCDS48428.2
    UniProtKB/TrEMBL
    A2MZG6, E7EXC2, J3QMU3
    Related
    ENSMUSP00000124299.3, ENSMUST00000161559.3
    Conserved Domains (2) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
  4. NM_031162.4NP_112439.1  CD247 antigen isoform eta precursor

    See identical proteins and their annotated locations for NP_112439.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (eta) has alternate exon structure in the 3' coding region and 3' UTR, compared to variant zeta. The resulting isoform (eta) has a distinct C-terminus and is longer than isoform zeta. Variants eta and kappa encode the same isoform.
    Source sequence(s)
    AC093371, AC124587, BF020526
    Consensus CDS
    CCDS15443.1
    UniProtKB/TrEMBL
    J3QMU3
    Related
    ENSMUSP00000027849.5, ENSMUST00000027849.11
    Conserved Domains (2) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain

RNA

  1. NR_103716.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (kappa) differs at the 3' end compared to variant zeta. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant zeta, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093371, AC124587

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    165607514..165698722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011238745.4XP_011237047.1  CD247 antigen isoform X1

    See identical proteins and their annotated locations for XP_011237047.1

    UniProtKB/Swiss-Prot
    P24161, P29020, Q9D3G3
    Conserved Domains (3) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam02189
    Location:139158
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
  2. XM_011238746.2XP_011237048.1  CD247 antigen isoform X2

    Conserved Domains (2) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
  3. XM_036156509.1XP_036012402.1  CD247 antigen isoform X1

    UniProtKB/Swiss-Prot
    P24161, P29020, Q9D3G3
    Conserved Domains (3) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam02189
    Location:139158
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
  4. XM_017313285.2XP_017168774.1  CD247 antigen isoform X1

    UniProtKB/Swiss-Prot
    P24161, P29020, Q9D3G3
    Conserved Domains (3) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam02189
    Location:139158
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
  5. XM_036156498.1XP_036012391.1  CD247 antigen isoform X1

    UniProtKB/Swiss-Prot
    P24161, P29020, Q9D3G3
    Conserved Domains (3) summary
    smart00077
    Location:6989
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam02189
    Location:139158
    ITAM; Immunoreceptor tyrosine-based activation motif
    pfam11628
    Location:2858
    TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001113394.2: Suppressed sequence

    Description
    NM_001113394.2: This RefSeq was permanently suppressed because the transcript is a nonsense-mediated mRNA decay (NMD) candidate when it uses a supported upstream start codon.