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CD99 CD99 molecule [ Homo sapiens (human) ]

Gene ID: 4267, updated on 8-May-2016
Official Symbol
CD99provided by HGNC
Official Full Name
CD99 moleculeprovided by HGNC
Primary source
HGNC:HGNC:7082
See related
Ensembl:ENSG00000002586 HPRD:02434; HPRD:02465; 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]
Orthologs
Location:
Xp22.32 and Yp11.3
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (2691187..2741309)
107 current GRCh38.p2 (GCF_000001405.28) Y NC_000024.10 (2691187..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 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 sex determining region Y

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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

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, OTTHUMP00000022842, ENST00000381187, OTTHUMT00000055626
    Conserved Domains (1) summary
    pfam12301
    Location:26160
    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
    Conserved Domains (1) summary
    pfam12301
    Location:26158
    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
    Conserved Domains (1) summary
    pfam12301
    Location:26175
    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
    Conserved Domains (1) summary
    pfam12301
    Location:26159
    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:26159
    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, OTTHUMP00000022840, ENST00000381192, OTTHUMT00000055624
    Conserved Domains (1) summary
    pfam12301
    Location:26176
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    2691187..2741309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274532.2XP_005274589.1  

    See identical proteins and their annotated locations for XP_005274589.1

    Conserved Domains (1) summary
    pfam12301
    Location:26148
    CD99L2; CD99 antigen like protein 2
  2. XM_005274534.3XP_005274591.1  

    Conserved Domains (1) summary
    pfam12301
    Location:26159
    CD99L2; CD99 antigen like protein 2
  3. XM_005274530.1XP_005274587.1  

    See identical proteins and their annotated locations for XP_005274587.1

    Conserved Domains (1) summary
    pfam12301
    Location:26164
    CD99L2; CD99 antigen like protein 2
  4. XM_005274533.1XP_005274590.1  

    UniProtKB/TrEMBL
    A0A096LP69
    Related
    ENSP00000485427, OTTHUMP00000277775, ENST00000624481, OTTHUMT00000478890
    Conserved Domains (1) summary
    pfam12301
    Location:26175
    CD99L2; CD99 antigen like protein 2
  5. XM_005274535.2XP_005274592.1  

    UniProtKB/Swiss-Prot
    P14209
    Related
    ENSP00000370579, OTTHUMP00000022843, ENST00000381184, OTTHUMT00000055627
    Conserved Domains (1) summary
    pfam12301
    Location:26158
    CD99L2; CD99 antigen like protein 2

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p2 Primary Assembly

    Range
    2691187..2741309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274796.2XP_005274853.1  

    See identical proteins and their annotated locations for XP_005274853.1

    Conserved Domains (1) summary
    pfam12301
    Location:26148
    CD99L2; CD99 antigen like protein 2
  2. XM_005274798.3XP_005274855.1  

    Conserved Domains (1) summary
    pfam12301
    Location:26159
    CD99L2; CD99 antigen like protein 2
  3. XM_005274794.1XP_005274851.1  

    See identical proteins and their annotated locations for XP_005274851.1

    Conserved Domains (1) summary
    pfam12301
    Location:26164
    CD99L2; CD99 antigen like protein 2
  4. XM_005274797.1XP_005274854.1  

    UniProtKB/TrEMBL
    A0A096LP69
    Conserved Domains (1) summary
    pfam12301
    Location:26175
    CD99L2; CD99 antigen like protein 2
  5. XM_005274799.2XP_005274856.1  

    UniProtKB/Swiss-Prot
    P14209
    Conserved Domains (1) summary
    pfam12301
    Location:26158
    CD99L2; CD99 antigen like protein 2

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    2639584..2689681
    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.