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    CD99 CD99 molecule (Xg blood group) [ Homo sapiens (human) ]

    Gene ID: 4267, updated on 5-Aug-2018

    Summary

    Official Symbol
    CD99provided by HGNC
    Official Full Name
    CD99 molecule (Xg blood group)provided by HGNC
    Primary source
    HGNC:HGNC:7082
    See related
    Ensembl:ENSG00000002586 MIM:313470; MIM:450000; Vega:OTTHUMG00000021073
    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
    MIC2; HBA71; MIC2X; MIC2Y; MSK5X
    Summary
    The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. There is a related pseudogene located immediately adjacent to this locus. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in fat (RPKM 38.2), gall bladder (RPKM 35.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See CD99 in Genome Data Viewer
    Location:
    Xp22.33 and Yp11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (2691133..2741309)
    109 current GRCh38.p12 (GCF_000001405.38) Y NC_000024.10 (2691133..2741309)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2609228..2659350)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (2559228..2609350)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 102 Neighboring gene microRNA 6089 Neighboring gene CD99 molecule pseudogene 1 Neighboring gene Xg glycoprotein (Xg blood group) Neighboring gene glycogenin 2

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 102 Neighboring gene microRNA 6089 Neighboring gene CD99 molecule pseudogene 1 Neighboring gene XG pseudogene, Y-linked 2 Neighboring gene RNA, U6 small nuclear 1334, 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD99 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    focal adhesion HDA PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CD99 antigen
    Names
    E2 antigen
    MIC2 (monoclonal antibody 12E7)
    T-cell surface glycoprotein E2
    antigen identified by monoclonal 12E7, Y homolog
    antigen identified by monoclonal antibodies 12E7, F21 and O13
    cell surface antigen 12E7
    cell surface antigen HBA-71
    cell surface antigen O13
    surface antigen MIC2

    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_009174.1 RefSeqGene

      Range
      5001..55123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001122898.2NP_001116370.1  CD99 antigen isoform b precursor

      See identical proteins and their annotated locations for NP_001116370.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) is shorter compared to isoform a.
      Source sequence(s)
      BC010109, CX869233, DT216927
      Consensus CDS
      CCDS48071.1
      UniProtKB/Swiss-Prot
      P14209
      Related
      ENSP00000370582.3, OTTHUMP00000022842, ENST00000381187.8, OTTHUMT00000055626
      Conserved Domains (1) summary
      pfam12301
      Location:34163
      CD99L2; CD99 antigen like protein 2
    2. NM_001321367.1NP_001308296.1  CD99 antigen isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR compared to variant 1, and encodes an isoform (c, also known as CD99sh) with a distinct, shorter C-terminus compared to isoform a.
      Source sequence(s)
      AC006209, BX402830, CX869233
      Consensus CDS
      CCDS75947.1
      UniProtKB/Swiss-Prot
      P14209
      Related
      ENSP00000494027.1, ENST00000482405.7
      Conserved Domains (1) summary
      pfam12301
      Location:26160
      CD99L2; CD99 antigen like protein 2
    3. NM_001321368.1NP_001308297.1  CD99 antigen isoform d precursor

      Status: REVIEWED

      Source sequence(s)
      AC006209, BC002584, BI757712, CX869233
      Consensus CDS
      CCDS83452.1
      UniProtKB/Swiss-Prot
      P14209
      UniProtKB/TrEMBL
      A0A096LP69
      Related
      ENSP00000485427.1, OTTHUMP00000277775, ENST00000624481.4, OTTHUMT00000478890
      Conserved Domains (1) summary
      pfam12301
      Location:26178
      CD99L2; CD99 antigen like protein 2
    4. NM_001321369.1NP_001308298.1  CD99 antigen isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes an isoform (e) of the same length but different sequence than the isoform (f) encoded by variant 7.
      Source sequence(s)
      BC002584, CN299062, CX869233
      UniProtKB/Swiss-Prot
      P14209
      Conserved Domains (1) summary
      pfam12301
      Location:34162
      CD99L2; CD99 antigen like protein 2
    5. NM_001321370.1NP_001308299.1  CD99 antigen isoform f precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) encodes an isoform (f) of the same length but different sequence than the isoform (e) encoded by variant 6.
      Source sequence(s)
      AC006209
      Conserved Domains (1) summary
      pfam12301
      Location:26162
      CD99L2; CD99 antigen like protein 2
    6. NM_002414.4NP_002405.1  CD99 antigen isoform a precursor

      See identical proteins and their annotated locations for NP_002405.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as type I) encodes the longest isoform (a, also known as CD99wt).
      Source sequence(s)
      BC010109, CX869233
      Consensus CDS
      CCDS14119.1
      UniProtKB/Swiss-Prot
      P14209
      Related
      ENSP00000370588.3, OTTHUMP00000022840, ENST00000381192.9, OTTHUMT00000055624
      Conserved Domains (1) summary
      pfam12301
      Location:26179
      CD99L2; CD99 antigen like protein 2

    RNA

    1. NR_135623.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as type II) contains an alternate exon and uses an alternate splice junction in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC010109, CX869233, U82164

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      2691133..2741309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p12 Primary Assembly

      Range
      2691133..2741309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001277710.1: Suppressed sequence

      Description
      NM_001277710.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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