| Supplementary Table 3 - Human and mouse
orthologous genes: functional annotations |
| Gardiner et al;
"Mouse models of Down syndrome…" |
| Gene |
Contig(s) |
Accession # |
Domain, functional
associations and similarities |
| PRED5 |
Ch21_005-1 to chr21_005-2 |
|
Lipase |
| RBM11 |
ch21_005-2 |
NM_144770 |
RNA binding motif
protein 11 |
| STCH |
ch21_006-1 |
NM_006948 |
Stress 70 protein
chaperone, microsome-associated, 60kD |
| SAMSN1 |
ch21_006-1 to
ch21_006-2 |
NM_022136 |
SAM domain, SH3
domain and nuclear localization signals, 1 |
| RIP140 |
ch21_007-2 to
ch21_008-1 |
X84373 |
Nuclear receptor
interacting protein; activated by retinoic acid |
| USP25 |
ch21_010-1 to
ch21_010-2 |
AF170562 |
Ubiquitin-specific
processing protease |
| CXADR |
ch21_015-1 to
ch21_015-2 |
NM_001338 |
Coxsackie virus and
adenovirus receptor |
| BTG3 |
ch21_015-2 |
NM_006806 |
B-cell translocation gene 3, abundant in
neuroepithelium area, anti-proliferative protein |
| C21orf68/CHODL |
ch21_017-2 |
NM_024944 |
Chondrolectin;
transmembrane protein similar to C-type lectins |
| PRSS7 |
ch21_017-2 to
ch21_018-1 |
U09860 & BF218079 |
Enterokinase |
| NCAM2 |
ch21_026-1 to
ch21_027-1 |
U75330 & AI525227 |
neural cell adhesion
protein |
| MRPL39 |
ch21_038-2 to
ch21_039-1 |
AK000458 |
Mitochondrial
ribosomal protein L39 |
| C21orf43/JAM2 |
ch21_039-1 |
AY077698 |
Vascular endothelial
junction-associated protein; immunoglobulin superfamily |
| ATP5J |
ch21_039-1 |
NM_001685 |
ATP synthase, H+
transporting, mitochondrial F0 complex, subunit F6 (ATP5J), nuclear gene
encoding mitochondrial protein |
| GABPA |
ch21_039-1 to
ch21_039-2 |
U13044 |
nuclear respiratory
factor-2 subunit alpha; ETS domain transcription factor |
| APP |
ch21_039-2 to
ch21_040-2 |
NM_000484 |
amyloid beta (A4)
precursor protein (protease nexin-II, Alzheimer disease) |
| CYYR1/C21orf95 |
Ch21_041-2 |
AK054581 |
Cysteine,
tyrosine-rich |
| ADAMTS1 |
ch21_042-2 |
AF207664 |
matrix
metalloprotease |
| ADAMTS5 |
ch21_042-2 to
ch21_043-1 |
NM_007038 |
a disintegrin-like
and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5
(aggrecanase-2) |
| N6AMT1/PRED28 |
ch21_048-2 |
NM_013240 |
Putative
N6-DNA-methyltransferase |
| ZNF294 |
ch21_048-2 to
ch21_049-1 |
AB018257 &
AK001915 |
Ring-finger domain |
| C21orf6 |
ch21_049-1 |
NM_016940 |
Ring-finger domain
and WD repeat domain |
| USP16 |
ch21_049-1 |
AF126736 |
Ubiquitin processing
protease (Ubp-M) |
| CCT8 |
ch21_049-1 |
NM_006585 |
Chaperonin containing
TCP1, subunit 8 (theta) |
| C21orf7 |
ch21_049-1 to
ch21_049-2 |
NM_020152 |
TAB2 binding domain
of TAK1; interleukin 1 signaling pathway ? |
| BACH1 |
ch21_049-2 to
ch21_050-1 |
AB002803 |
BTB-basic leucine
zipper transcription factor |
| GRIK1 |
ch21_050-2 to
ch21_051-2 |
L19058 |
Glutamate receptor
(GLUR5) |
| CLDN17 |
ch21_052-1 |
AJ250712 |
Cell adhesion
molecule at tight junctions; 4 transmembrane domains |
| CLDN8 |
ch21_052-2 |
AJ250711 |
Cell adhesion
molecule at tight junctions; 4 transmembrane domains |
| TIAM1 |
ch21_055-1 to
ch21_056-2 |
U16296 |
G-nucleotide exchange
factor for Rac |
| SOD1 |
ch21_056-2 |
X02317 |
Superoxide dismutase |
| rA4 |
ch21_056-2 to
ch21_057-1 |
AF023142 |
Similar to pre-mRNA
splicing SR proteins |
| HUNK/MAK5 |
ch21_057-2 |
NM_014586 |
Hormonally upregulated
Neu-associated kinase |
| C21orf61 |
ch21_058-2 |
AF454915 |
Transmembrane domain;
fat cell-specific low molecular weight protein beta (FALP) |
| C21orf108 |
ch21_058-2 to
ch21_059-1 |
AF231919 |
6 transmembrane
domains |
| C21orf63 |
ch21_059-1 |
AF358258 |
2 SUEL domains
(galactose-binding lectin domains) |
| SYNJ1 |
ch21_059-2 to
ch21_060-1 |
AF009040 |
Phosphoinositol
phosphatase |
| C21orf66/GCFC |
ch21_060-1 |
AY033906 |
Spliceosomal-associated |
| C21orf62 |
ch21_060-1 |
AF231922 |
Signal sequence |
| OLIG2 |
ch21_060-2 |
AF221520 |
basic
helix-loop-helix transcription factor class B 1 (BHLHB1) |
| OLIG1 |
ch21_061-1 |
BC026989 |
basic
helix-loop-helix transcription factor |
| IFNAR2 |
ch21_061-2 |
NM_000874 |
Interferon (alpha,
beta and omega) receptor 2 |
| IL10RB |
ch21_061-2 |
Z17227 |
Cytokine receptor |
| IFNAR1 |
ch21_061-2 |
J03171 |
Interferon-alpha receptor |
| IFNGR2 |
ch21_062-1 |
U05875 |
Interferon gamma
receptor accessory factor-1 (AF-1) |
| C21orf4 |
ch21_062-1 |
AF045606 |
4 transmembrane
domains |
| C21orf55 |
ch21_062-1 |
AF462153 |
DnaJ/Hsp40 motif |
| GART |
ch21_062-1 |
X54199 |
De novo purine
biosynthesis |
| SON |
ch21_062-1 to
ch21_062-2 |
AF380179 |
G-patch and ds RNA
binding motif |
| CRYZL1 |
ch21_062-2 |
NM_005111 |
Crystallin, zeta
(quinone reductase)-like 1 |
| ITSN |
ch21_062-2 to
ch21_063-1 |
AF114487 |
2 EH, 5 SH3, RhoGef,
PH, C2 domains |
| ATP5O |
ch21_063-2 |
X83218 |
ATP synthase
oligomycin-sensitivity-conferral subunit |
| SLC5A3 |
ch21_064-1 |
AF027153 |
Na-myo-inositol
cotransporter |
| MRPS6 |
ch21_064-1 |
NM_032476 |
Mitochondrial
ribosomal protein S6 |
| KCNE2 |
ch21_064-2 |
AF302095 |
voltage-gated K+
channel; ISK-related; subunit MIRP1 |
| KCNE1 |
ch21_065-1 |
BI459541 |
Voltage-gated K+
channel, ISK-related |
| DSCR1 |
ch21_065-1 to
ch21_065-2 |
NM_004414 |
Inhibitor of
Calcineurin |
| CLIC6 |
ch21_065-2 |
BG702259 &
BF872299 & BG184920 |
Putative Chloride
channel |
| RUNX1 |
ch21_066-1 to
ch21_066-2 |
D43969 |
Runt domain
transcription factor; disrupted in Acute Myelogenous Leukemia 1 |
| CBR1 |
ch21_069-2 |
J04056 |
Carbonyl reductase |
| CBR3 |
ch21_070-1 |
NM_001236 |
Carbonyl reductase |
| KIAA0136 |
ch21_070-2 |
D50926 |
ATP-binding domains |
| CHAF1B |
ch21_070-2 |
BC021218 |
Chromatin assembly
factor |
| CLDN14 |
ch21_071-1 |
AF314090 |
Cell adhesion protein
in tight junctions |
| SIM2 |
ch21_071-2 |
U80456 |
Transcription factor;
HLH, 2 PAS, 1 PAC domain |
| HLCS |
ch21_071-2 to
ch21_072-2 |
D87328 |
Holocarboxylase
synthase |
| DSCR5 |
ch21_072-2 |
AF216305 |
2 transmembrane
domains; Down syndrome critical region protein 5 |
| TTC3 |
ch21_072-2 to
ch21_073-1 |
BG393989 & D84294 |
Tetratricopeptide
repeats |
| DSCR3 |
ch21_073-1 |
D87343 |
Vacuolar protein
sorting-associated protein (Vps) 26 motif |
| DYRK1A |
ch21_073-2 to
ch21_074-1 |
AF108830 |
serine-threonine
protein kinase; tyrosine phosphorylation regulated |
| KCNJ6 |
ch21_074-1 to
ch21_075-1 |
NM_002240 |
Potassium
inwardly-rectifying channel, subfamily J, member 6 |
| KCNJ15 |
ch21_076-1 |
NM_002243 |
Potassium
inwardly-rectifying channel, subfamily J, member 15 |
| ERG |
ch21_076-2 to
ch21_077-2 |
M17254 |
ETS-related;
SAM/Pointed and ETS domains; transcription factor |
| ETS2 |
ch21_077-2 to
ch21_078-1 |
NM_005239 |
v-ets
erythroblastosis virus E26 oncogene homolog 2 (avian); transcription factor |
| DSCR2 |
ch21_079-1 |
AJ006291 |
Leucine rich |
| WDR9 |
ch21_079-1 |
AJ292465 |
8 Trp-Aps domains; 2
bromo (DNA binding ) domains |
| HMG14P |
ch21_079-2 |
NM_004965 |
high-mobility group
(nonhistone chromosomal) protein 14 |
| WRB |
ch21_079-2 |
Y12478 |
Signal sequence; 2
transmembrane domains; trp-rich C terminus |
| SH3BGR |
ch21_079-2 to
ch21_080-1 |
X93498 |
Signal sequence;
Pro-rich putative SH3 domain; Glu-rich C-terminus |
| B3GALT5 |
ch21_080-1 |
AB020337 |
UDP-Gal:betaGlcNAc
beta 1,3-galactosyltransferase, polypeptide 5 |
| IGSF5 |
Ch21_080-2 |
BG740428 |
immunoglobulin superfamily, member 5 |
| PCP4 |
ch21_081-1 |
U52969 |
PEP19; brain specific
peptide |
| DSCAM |
ch21_081-2 to
ch21_083-2 |
NM_001389 |
Down syndrome cell
adhesion molecule |
| BACE2 |
ch21_084-2 to
ch21_085-1 |
AF178532 |
Asparty protease; b-site APP cleavage |
| MX2 |
ch21_085-2 |
M30818 |
Interferon-induced
cellular resistance mediator protein; Dynamin and Dynamin GTPase effector
domains |
| MX1 |
ch21_085-2 |
M33882 |
Interferon-induced
cellular resistance mediator protein; Dynamin and Dynamin GTPase effector
domains |
| TMPRSS2 |
ch21_085-2 |
NM_005656 |
1 transmembrane domain;
serine protease |
| ANKRD3 |
ch21_088-1 to
ch21_088-2 |
NM_020639 |
Kinase domain; 10 ankyrin
domains |
| ZNF298-C21orf83 |
ch21_088-2 to
ch21_090-1 |
AY078498 |
SET domain; 17 zinc
finger domains |
| C21orf25 |
ch21_090-1 |
AL050173 |
C2 calcium binding
domain |
| ZNF295 |
ch21_090-1 to
ch21_090-2 |
AB033053 |
BTB protein
interaction domain; 8 zinc finger domains |
| ABCG1 |
ch21_091-1 |
X91249 |
ATP-binding cassette
transporter G1 |
| TFF3 |
ch21_091-1 |
BC017859 |
Intestinal trefoil
factor |
| TFF2 |
ch21_091-2 |
X51698 |
Intestinal trefoil
factor |
| TFF1 |
ch21_091-2 |
X00474 |
Spasmolytic protein;
intestinal trefoil factor |
| TMPRSS3 |
ch21_091-2 |
AF267741 |
LDLa and trypsin
domains; putative serine protease |
| UBASH3A |
ch21_091-2 |
BC028138 |
UBA (ubiquitin
associated) domain; SH3 domain |
| SLC37A1 |
ch21_091-2 to
ch21_092-1 |
AJ269529 |
solute carrier family
37 (glycerol-3-phosphate transporter), member 1 |
| PDE9A |
ch21_092-1 to
ch21_092-2 |
AF067223 |
cGMP
phosphodiesterase A1 |
| WDR4 |
ch21_093-1 |
AK056343 |
4 trp-asp repeat
domains |
| NDUFV3 |
ch21_093-1 |
NM_021075 &
BC021217 |
NADH dehydrogenase
(ubiquinone) flavoprotein 3 (10kD) |
| PKNOX1 |
ch21_093-1 to
ch21_093-2 |
BE280129 & U68727 |
Homeobox-containing
protein |
| CBS |
ch21_093-2 |
L00972 |
Cystathionine-beta-synthase |
| U2AF1 |
ch21_093-2 |
M96982 |
Constitutive splicing
factor; 3’splice site selection |
| CRYAA |
ch21_093-2 |
NM_000394 |
Crystallin, alpha A |
| SNF1LK |
ch21_096-1 |
NM_173354 |
serine/threonine
kinase similar to Snf1 protein kinase of S. cerevisiae, involved in the response to nutritional
stress |
| HSF2BP |
ch21_096-2 to
ch21_097-1 |
AB007131 |
Heat shock
transcription factor binding protein |
| PDXK |
ch21_097-1 |
NM_003681 |
Pyridoxal
(pyridoxine, vitamin B6) kinase |
| CSTB |
ch21_097-1 |
NM_000100 |
cystatin B (stefin B) |
| AGPAT3 |
ch21_097-2 to
ch21_098-1 |
AF156774 |
Lysophosphatidic acid
acyltransferase-gamma1 (LPAAT-gamma1) |
| TMEM1 |
ch21_098-1 |
NM_003274 |
3 transmembrane
domains |
| PWP2H |
ch21_098-1 to
ch21_098-2 |
X95263 |
Periodic tryptophan
protein |
| C21orf33/HES1 |
ch21_098-2 |
NM_004649 |
Signal peptide; ThiJ
domain |
| KIAA0653 |
ch21_098-2 |
AB014553 |
IG and transmembrane
domain |
| DNMT3L |
ch21_098-2 |
AF194032 |
Cytosine-5-methyltransferase
3-like protein |
| AIRE |
ch21_099-1 |
NM_000383 |
Autoimmune regulator
(autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) |
| PFKL |
ch21_099-1 |
X15573 |
liver-type
1-phosphofructokinase |
| C21orf2 |
ch21_099-1 |
Y11392 |
Leu-rich |
| TRPM2/TRPC7 |
ch21_099-1 |
AB001535 |
Transient receptor
potential cation channel; putative Ca channel |
| LRRC3-C21orf102 |
ch21_099-2 |
NM_030891 |
leucine-rich
repeat-containing 3 |
| TSPEAR/C21orf29 |
ch21_099-2 |
AJ487962 |
TSPN (heparin binding
and cell adhesion domain of thrombospondin); 7 EAR (epilepsy-associated
repeats) |
| UBE2G2 |
ch21_100-1 to
ch21_100-2 |
AF032456 |
Ubiquitin conjugating
enzyme G2 |
| SMT3H1 |
ch21_100-2 |
X99584 |
Ubiquitin-like |
| C21orf1/PTTG1IP |
ch21_100-2 |
Z50022 |
Pituitary
tumor-transforming gene; signal peptide, PSI and transmembrane domains |
| ITGB2 |
ch21_100-2 |
M15395 |
Leukocyte adhesion
protein (LFA-1/Mac-1/p150,95 family); integrin beta subunit |
| C21orf70 |
ch21_100-2 to
ch21_101-1 |
NM_058190 |
Spliceosome-associated |
| ADAR2 |
ch21_101-1 to
ch21_101-2 |
U76421 |
dsRNA adenosine
deaminase DRADA2b |
| KIAA0958-c21orf80 |
ch21_101-2 |
AB023175 |
Signal sequence |
| COL18A1 |
ch21_102-1 to
ch21_102-2 |
AF018081 |
type XVIII collagen |
| SLC19A1 |
ch21_102-2 |
U19720 |
Reduced folate
carrier (RFC) |
| PCBP3 |
ch21_103-2 |
NM_020528 |
poly(rC) binding
protein 3 |
| COL6A1 |
ch21_103-2 to
ch21_104-1 |
NM_001848 |
Collagen, type VI,
alpha 1 |
| COL6A2 |
ch21_104-1 |
NM_001849 |
Collagen, type VI,
alpha 2 |
| FTCD |
ch21_104-1 to
ch21_104-2 |
AF289022 |
Formiminotransferase
cyclodeaminase form C |
| LSS |
ch21_104-2 |
D63807 |
2,3-oxidosqualene-lanosterol
cyclase |
| MCM3AP/GANP |
ch21_104-2 |
AJ010089 |
MCM3-associated
protein in G1 phase |
| PCNT2 |
ch21_105-1 |
U52962 |
Centrosomal protein
kendrin |
| KIAA0184 |
ch21_105-1 to
ch21_105-2 |
AF490768 |
3 AMP binding domains |
| S100B |
ch21_105-2 |
NM_006272 |
S100 calcium binding
protein, beta (neural) |
| HRMT1L1 |
ch21_105-2 to
ch21_106 |
U80213 |
protein arginine
N-methyltransferase 2 (PRMT2) |
|
Gene: current gene
name and, for reference, if changed, the previous gene name is given. 
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