Table 1 Chromosome 21 functional gene categories

Transcription factors, regulators,

GABPA, BACH1, RUNX1, SIM2, ERG, ETS2 (transcription factors); ZNF294, ZNF295, Pred65,

and modulators

^*ZNF298, APECED (zinc fingers); KIAA0136 (leucine zipper); GCFC (GC-rich binding protein);

SON (DNA binding domain); PKNOX1 (homeobox); HSF2BP (heat shock transcription factor

binding protein); NRIP1 (modulator of transcriptional activation by estrogen)

Chromatin structure

H2BFS (histone 2B), HMG14 (high mobility group), CHAF1B (chromatin assembly factor), PCNT

(pericentrin, an integral component of the pericentriolar matrix of the centrosome)

Proteases and protease inhibitors

BACE (beta-site APP cleaving enzyme); TMPRSS2, TMPRSS3 (transmembrane serine proteases);

ADAMTS1, ADAMTS5 (metalloproteinases); CSTB (protease inhibitor)

Ubiquitin pathway

USP25, USP16 (ubiquitin proteases); UBE2G2 (ubiquitin conjugating enzyme); SMT3A (ubiquitin-like)

Interferons and immune response

IFNAR1, IFNAR2, IL10RB, IFNGR2 (receptors/auxilliary factors); MX1, MX2 (interferon-induced);

CCT8 (T-complex subunit), TIAM1 (T-lymphoma invasion and metastasis inducing protein),

TCP10L (T-complex protein 10 like)

Kinases

ENK (enterokinase); MAKV, MNB, KID2 (serine/threonine); PHK (pyridoxal kinase), PFKL

(phosphofructokinase); ^*ANKRD3 (ankyrin-like with kinase domains); PRKCBP2 (protein kinase C

binding protein)

Phosphatases

SYNJ1 (polyphosphinositide phosphatase); PDE9A (cyclicphosphodiesterase)

RNA processing

rA4 (SR protein), U2AF35 (splicing factor), RED1 (editase), PCBP3 (poly(C)-binding protein);

^*RBM11 (RNA-binding motif)

Adhesion molecules

NCAM2 (neural cell), DSCAM; ITGB2 (lymphocyte); c21orf43 (similar to endothelial tight junction

molecule)

Channels

GRIK1 (glutamate receptor, calcium channel); KCNE1, KCNE2, KNCJ6, KCNJ15 (potassium);

^*CLIC1l (chloride); TRPC7 (calcium)

Receptors

CXADR (Coxsackie and adenovirus); Claudins 8, 14, 17 (Claustridia); Pred12 (mannose)

Transporters

SLC5A3 (Na-myoinositol); ABCG1 (ATP-binding cassette)

Energy metabolism

ATP50 (ATP synthase oligomycin-sensitivity conferral protein); ATP5A (ATPase-coupling factor 6);

NDUFV3 (NADH-ubiquinone oxoreductase subunit precursor); CRYZL1 (quinone

oxidoreductase)

Structural

CRYA (lens protein); COL18, COL6A1, COL6A2 (collagens)

Methyl transferases

DNMT3L (cytosine methyl transferase), HRMTIII (protein arginine methyl transferase); Pred28

(AF139682) (N6-DNA methyltransferase)

SH3 domain

ITSN, SH3BGR, UBASH3A

One carbon metabolism

GART (purine biosynthesis), CBS (cystathionine-ß -synthetase), FTCD (formiminotransferase

cyclodeaminase), SLC19A1 (reduced folate carrier)

Oxygen metabolism

SOD1 (superoxide dismutase); CBR1, CBR3 (carbonyl reductases)

Miscellaneous

HLCS (holocarboxylase synthase); LSS (lanosterol synthetase); B3GALT5 (galactosyl transferase);

^*AGPAT3 (acyltransferase); STCH (microsomal stress protein); ANA/BTG3 (cell cycle control);

MCM3 (DNA replication associated factor); APP (Alzheimer's amyloid precursor); WDR4, WDR9

(WD repeat containing proteins); TFF1, 2, 3 (trefoil proteins); UMODL1 (uromodulin); ^*Pred5

(lipase); ^*Pred3 (keratinocyte growth factor); KIAA0653, ^*IgSF5 (Ig domain); TMEM1, ^*Pred44

(transmembrane domains); TRPD (tetratricopeptide repeat containing); S100b (Ca binding); PWP2

(periodic tryptophan protein); DSCR1 (proline rich); DSCR2 (leucine rich); WRB (tryptophan rich

protein); Pred22 (tRNA synthetase); SCL37A1 (glycerol phosphate permease)