Table of Contents
CD240CE | CD240D | CD240DCE | CD241 | CD242 | CD243 | CD244 | CD245 | CD246 | CD247 | CD248 | CD249 | Diagrams / tables | Microscopic (histologic) imagesCite this page: Pernick N. CD240-249. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/cdmarkerscd240.html. Accessed December 18th, 2024.
CD240CE
- Also called RH 30 CE, Rh blood group Cc and Ee blood group antigens; encodes RhC and RhE antigens on a single polypeptide
- On #1p36.11 adjacent to RH D gene
- Rh (rhesus) blood group system is second most clinically significant blood group after ABO; is most polymorphic blood group, with variations due to deletions, gene conversions and missense mutations
- Rh antigens are carried by an oligomer of two major erythroid specific polypeptides, the Rh (D and CcEe) proteins and the RhAG glycoprotein
- Rh proteins form a core complex critical to structure of erythrocyte membrane (Blood Rev 2006;20:93)
- May play a role in ammonia transport (J Biol Chem 2002;277:12499, Transfus Clin Biol 2006;13:132)
- Discrepant or doubtful serologic results can be resolved by sequence specific primer (PCR SSP) technique (Transfusion 2007;47:54S)
- Rarely causes hemolytic disease of newborn (Transfus Med 2000;10:305)
- Uses by pathologists: blood typing
- Positive staining - normal: erythroid cells
- References: Blood 2000;95:375, OMIM 111700
CD240D
- Also called RH30 D, Rh blood group D blood group antigen; is major antigen of the Rh system
- On #1p36.11 adjacent to RHCE gene
- Rh (rhesus) blood group system is second most clinically significant blood group after ABO; is most polymorphic blood group, with variations due to deletions, gene conversions and missense mutations
- Weak D, formerly called D(u), occurs in 0.2 to 1% of whites
- Exhibits reduced expression of D antigen (Blood 1999;93:385)
- Should not be labeled as Rh negative (Curr Opin Hematol 2006;13:476)
- Individuals are classified as Rh positive or negative based on presence or absence of highly immunogenic D antigen on red cell surface
- May have arisen historically by duplication of RHCE gene (Blood 2002;99:2272)
- Discrepant or doubtful serologic results can be resolved by sequence specific primer (PCR SSP) technique (Transfusion 2007;47:54S)
- Hemolytic disease of fetus and newborn: usually due to Rh negative woman whose partner is Rh+ or heterozygous and fetus is Rh+; woman has preexisting anti-RhD antibodies that cross placenta and harm fetus (Immunohematol 2006;22:188)
- Can use maternal plasma in alloimmunized pregnancies to determine fetal RhD status or for RHD and RHCE genotyping (Fetal Diagn Ther 2006;21:404, Prenat Diagn 2005;25:1079)
- Genotyping from amniotic fluid or chorionic villi sampling was performed in past but is more invasive (N Engl J Med 1998;339:1734, Clin Exp Med 2002;2:77)
- Rh positive mothers may rarely (0.15%) develop new antibodies (other than anti-RHD) in third trimester but no clinical significance (J Matern Fetal Neonatal Med 2007;20:59)
- Having Rh negative mother may be risk factor for autistic children, due to use of mercury containing Rho-immune globulin (J Matern Fetal Neonatal Med 2007;20:385)
- Uses by pathologists: blood typing
- Positive staining - normal: erythroid cells
- References: OMIM 111680, Wikipedia, eMedicine (Rh incompatibility)
CD240DCE
CD241
- Also called RH50 glycoprotein, RHAG, Rhesus blood group associated glycoprotein
- Located at #6p21.1 - p11
- Is a strictly required posttranscriptional factor regulating Rh membrane expression (Blood 2002;100:1038)
- Also appears to be an ammonium transporter and a CO2 channel (Proc Natl Acad Sci USA 2004;101:17222, FASEB J 2008;22:64)
- Defects cause Rh-null phenotype, associated with a chronic hemolytic anemia and spherostomatocytosis (OMIM 268150, J Biol Chem 1998;273:2207)
- Uses by pathologists: blood typing
- Positive staining - normal: erythroid cells
- Reference: OMIM 180297
CD242
- Also called intercellular adhesion molecule 4 (ICAM-4), Landsteiner-Wiener (LW) blood group protein
- Discovered with antibody raised in guinea pigs injected with the cells of rhesus monkeys but Rh designation had already been taken
- Binds to CD11a / CD18, CD11b / CD18 and CD11c / CD18 (Blood 2007;109:802)
- May be critical in erythroblastic island formation, where erythroid progenitors differentiate (Blood 2006;108:2064)
- May be ligand for platelet activated alpha IIb beta 3 integrin (J Biol Chem 2003;278:4892)
- In sickle cell disease, contributes to red cell endothelial cell adhesion and vasoocclusion (Transfus Clin Biol 2006;13:44)
- Uses by pathologists: no significant clinical use by pathologists
- Positive staining - normal: erythroid cells
- References: OMIM 111250
CD243
- See Stains-MDR
CD244
- Also called Natural Killer cell receptor 2B4
- Regulates NK and T cell function in multiple ways (J Immunol 2005;175:2045)
- Coexpression of 2B4 and CD160 defines a CD8+ T lymphocyte subpopulation with high cytolytic effector activity (Eur J Immunol 2006;36:2359)
- Binds to CD48 (J Immunol 2006;176:4646)
- CD244 - CD48 interactions prevent NK cells from killing each other (Blood 2007;110:2020)
- Functional changes are associated with X linked lymphoproliferative disease (J Exp Med 2000;192:337, J Immunol 2000;165:2932)
- Uses by pathologists: no significant clinical use by pathologists
- Positive staining - normal:
- NK cells
- CD8+ T cells
- Monocytes and basophils (Eur J Immunol 1999;29:1676)
- Eosinophils (J Immunol 2005;174:110)
- Spleen (Tissue Antigens 1999;54:27)
- Reference: OMIM 605554
CD245
- Also called p220 / 240
- Very little information is available for CD245 directly; appears to be identical to NPAT (nuclear protein, ataxia-telangiectasia locus)
- NPAT links S phase cyclin E / Cdk2 kinase activity to replication dependent histone gene transcription (Biochemistry 2006;45:15915, Mol Cell Biol 2005;25:6140)
- Uses by pathologists: no significant clinical use by pathologists
- Positive staining - normal: T cells (some), other white blood cells with varying intensity
CD246
- See Stains-ALK
CD247
- Also called T cell receptor zeta chain
- Forms T cell-CD3 receptor complex with TCR alpha / beta and gamma / delta heterodimers and CD3 (gamma, delta and epsilon) (Proc Natl Acad Sci USA 1988;85:9709)
- Couples antigen recognition to several intracellular signal transduction pathways; low expression causes impaired immune response
- Low expression in tumor infiltrating T cells in various disorders:
- Cancer of kidney (Cancer Invest 2004;22:871)
- Cancer of stomach (Cancer 2002;94:1437)
- Hodgkin’s lymphoma (Blood 1996;88:236)
- Active tuberculosis (J Infect Dis 2006;194:1385)
- Systemic lupus erythematosus (J Immunol 2002;169:6048, Adv Med Sci 2006;51:181)
- Normal pregnancy but not preeclampsia (Am J Obstet Gynecol 2003;189:843)
- Defects cause primary T cell immunodeficiency (OMIM 610163)
- Uses by pathologists: no significant clinical use by pathologists
- Positive staining - normal: T cells
- Reference: OMIM 186780
CD248
- Also called endosialin, tumor endothelial marker 1 (TEM1)
- Cell surface glycoprotein associated with tumors: traditionally thought present in vascular endothelial cells (Proc Natl Acad Sci USA 1992;89:10832, J Biol Chem 2001;276:7408)
- May actually be marker of stromal fibroblasts (FEBS Lett 2005;579:2569)
- Not present (or weak) in nontumor associated endothelium
- Uses by pathologists: no significant clinical use by pathologists
- Positive staining - normal:
- Endometrium
- Embryos (Cancer Res 2001;61:6649)
- Fibroblasts and pericytes during lymphoid tissue development (FEBS Lett 2007;581:3550)
- RNA at low / moderate levels in many organs
- Positive staining - disease:
- MFH and other sarcomas, some capillaries and fibroblasts in carcinomas
- Endothelium of high grade brain tumors (J Neuropathol Exp Neurol 2004;63:1274)
- RNA at low / moderate levels in carcinomas (Cancer Immun 2005;5:10)
- Reference: OMIM 606064
CD249
- Also called ENPEP, glutamyl aminopeptidase, differentiation antigen gp160, aminopeptidase A
- Regulates blood pressure via renin-angiotensin system (J Biol Chem 2006;281:23503)
- Uses by pathologists: no significant clinical use by pathologists
- Positive staining - normal: kidney; also brain, heart, liver, lung, placenta, skeletal muscle, pancreas (Genomics 1993;17:657)
- Positive staining - disease:
- Cervical neoplasia (Lab Invest 2004;84:639)
- Renal cell carcinoma-some (Proc Natl Acad Sci USA 1993;90:7069)
- Reference: OMIM 138297