Format

Send to:

Choose Destination

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

Gene ID: 4267, updated on 12-Jul-2019

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
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
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (2691133..2741309)
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

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
T cell extravasation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
homotypic cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of neutrophil extravasation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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_001122898.3NP_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, DT216927
    Consensus CDS
    CCDS48071.1
    UniProtKB/Swiss-Prot
    P14209
    Related
    ENSP00000370582.3, ENST00000381187.8
    Conserved Domains (1) summary
    pfam12301
    Location:34163
    CD99L2; CD99 antigen like protein 2
  2. NM_001321367.2NP_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_001321368.2NP_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, ENST00000624481.4
    Conserved Domains (1) summary
    pfam12301
    Location:26178
    CD99L2; CD99 antigen like protein 2
  4. NM_001321369.2NP_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_001321370.2NP_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_002414.5NP_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
    Consensus CDS
    CCDS14119.1
    UniProtKB/Swiss-Prot
    P14209
    Related
    ENSP00000370588.3, ENST00000381192.10
    Conserved Domains (1) summary
    pfam12301
    Location:26179
    CD99L2; CD99 antigen like protein 2

RNA

  1. NR_135623.2 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, 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.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 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.
Support Center