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FLASH GENE
Symbol CD99 contributors: mct - updated : 05-03-2015
HGNC name CD99 molecule
HGNC id 7082
DNA
TYPE functioning gene
SPECIAL FEATURE escaping inactivation
text lack of methylation
STRUCTURE 50.12 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure
  • HTF associated with the promoter region
  • NFKB2 represses Sp1-mediated transcription at the CD99 promoter
  • MAPPING cloned Y linked Y status confirmed
    Map see GCX
    Physical map
    LOC392564 X similar to ribosomal protein L24 PR48 Xp22.33; protein phosphatase 2A 48 kDa regulatory subunit LOC392566 X similar to testis expressed sequence 13A LOC392567 X similar to filamin-binding LIM protein-1; migfilin LOC392421 X LOC392421 LOC392422 X LOC392422 LOC392568 X similar to bA203I16.1 (KIAA0970 protein) LOC392569 X similar to Phosphoglycerate kinase 1 (Primer recognition protein 2) (PRP 2) SHOX Xp22.3 short stature homeobox LOC392570 X similar to Menkes Disease (ATP7A) LOC389912 X similar to Putative phosphoglycerate mutase 3 LOC389837 X LOC389837 IL3RA Xp22.3 interleukin 3 receptor, alpha (low affinity) SLC25A6 Xp22.32 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 FLJ13330 Xp22.33; hypothetical protein FLJ13330 ASMTL Xp22.3 acetylserotonin O-methyltransferase-like P2RY8 Xp22.33; purinergic receptor P2Y, G-protein coupled, 8 DXYS155E Xp22.32 DNA segment on chromosome X and Y (unique) 155 expressed sequence ASMT Xp22.3 acetylserotonin O-methyltransferase LOC203604 Xp22.33 similar to trophinin; melanoma antigen, family D, 3; trophinin-2; magphinin-alpha; magphinin-gamma; magphinin-beta 2; necdin and trophinin like; melanoma antigen, family D, 3-like ALTE Xp22.33, Ac-like transposable element LOC389838 X hypothetical gene supported by AK125149; BC019893 CD99 Xp22.32 CD99 antigen XG Xp22.32 Xg blood group (pseudoautosomal boundary-divided on the X chromosome) GYG2 Xp22.3 glycogenin 2 ARSD Xp22.3 arylsulfatase D ARSE Xp22.32 arylsulfatase E (chondrodysplasia punctata 1) LOC347527 Xp22.33 similar to arylsulfatase ARSF Xp22.32 arylsulfatase F DKFZp564I1922 Xp22.33 adlican ASSP4 Xpter-p22 argininosuccinate synthetase pseudogene 4 PRKX Xp22.3 protein kinase, X-linked LOC392423 X similar to ubiquitin and ribosomal protein S27a precursor; ubiquitin carboxyl extension protein 80; 40S ribosomal protein S27a; ubiquitin; ubiquitin-CEP80
    regionally located located in the pseudoautosomal region (PAR) at the end of the short arm
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 1255 32 185 - 2007 17471235
    9 splicing 1207 - 169 - 2007 17471235
    10 - 1270 - 160 - 2007 17471235
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Endocrinepancreas   highly
    Lymphoid/Immunetonsils   highly
    Nervousnerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiens
    Lymphoid/ImmuneT cell
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • a single long hydrophobic region rich in proline residues
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to C.elegans co6a8.3
    intraspecies paralog to CD99L2
    Homologene
    FAMILY
  • CD99 family
  • CATEGORY adhesion , antigen , tumor suppressor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    text type I membrane protein
    basic FUNCTION
  • cell surface glycoprotein whose engagement has been implicated in cell proliferation as well as upregulation and transport of several transmembrane proteins in hematopoietic cells
  • cell surface glycoprotein whose engagement has been implicated in cell proliferation as well as upregulation and transport of several transmembrane proteins in hematopoietic cells
  • involved in T cell adhesion processes
  • involved in crucial processes of cancer malignancy, serving as a curtain raiser for this, so far neglected molecule
  • plays a pivotal role in the reversion of the malignant phenotype
  • acting as a potent suppressor of malignancy in osteosarcoma
  • is essential for leukocyte diapedesis
  • CD99 and CD99L2 act independently of PECAM1 in leukocyte extravasation and cooperate in an independent way to help neutrophils overcome the endothelial basement membrane
  • PECAM1 and CD99 are involved in the reverse transmigration (RT) of tissue-resident dendritic cells (DCs) across lymphatic endothelial cells (LECs) and similar mechanisms promote both diapedesis and RT
  • SEPTIN2-mediated cytoskeletal rearrangement and STMN1-mediated differentiation may contribute to changes in cell morphology and differentiation of Hodgkin and Reed-Sternberg (H/RS) cells with CD99 upregulation in Hodgkin lymphoma (HL)
  • endothelial CD99 signals through soluble adenylyl cyclase and PRKAA to regulate leukocyte transendothelial migration
  • CD99 and SLC3A2 oppositely regulate ITGB1 signaling
  • CD99-induced dephosphorylation of PTK2 was apparently mediated by the recruitment of PTPN11 to the plasma membrane and subsequent activation of its phosphatase activity
  • important role for CD99 in the pathogenesis of CNS autoimmunity
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS immunity/defense
    text anti-pathogen response
    PATHWAY
    metabolism
    signaling signal transduction
    mediated death signaling (novel death pathway)
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CD99 also binds GOLGA4 9)
  • NFKB2 represses Sp1-mediated transcription at the CD99 promoter
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    may have a role in osteosarcoma development and progression
    tumoral     --over  
    contribute to the malignant properties of Ewing's sarcoma cells by promoting growth and migration of tumor cells
    tumoral     --other  
    aberrantly expressed in anaplastic large cell lymphoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS