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CNV
Animal Models
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Human Gene Search Results
Download Human Gene
Unique ID
Gene Symbol
Gene Name
Chromosome Loc
Genetic Category
Gene Ranking
Biallelic
# of Variants
Associated Disorders
# of Reports
Primary Reference
Display
GEN890
ADCY3
adenylate cyclase 3
2p23.3
Rare single gene variant
3
7
4
De Rubeis S , et al. 2014
Edit
GEN047
AGAP1
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
2q37.2
Rare Single Gene variant, Genetic Association
2
17
10
Wassink TH , et al. 2005
Edit
GEN015
ARHGAP15
Rho GTPase activating protein 15
2q22.2-q22.3
Rare Single Gene variant
2
5
9
O'Roak BJ , et al. 2011
Edit
GEN1039
ASAP2
ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
2p25.1
Rare single gene variant
2
10
5
De Rubeis S , et al. 2014
Edit
GEN975
BAZ2B
bromodomain adjacent to zinc finger domain 2B
2q24.2
Rare single gene variant
4
26
8
Iossifov I et al. 2014
Edit
GEN643
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
2p16.1
Rare single gene variant
4
42
26
Iossifov I , et al. 2012
Edit
GEN425
BIN1
bridging integrator 1
2q14.3
Rare single gene variant
2
6
5
Connolly JJ , et al. 2012
Edit
GEN702
BIRC6
Baculoviral IAP repeat containing 6
2p22.3
Rare single gene variant
4
50
13
Iossifov I , et al. 2012
Edit
GEN1269
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
2p23.3
Rare single gene variant
2
8
6
Wilfert AB et al. 2021
Edit
GEN752
CCT4
Chaperonin containing TCP1, subunit 4 (delta)
2p15
Rare single gene variant
2
2
3
Iossifov I et al. 2014
Edit
GEN891
CLASP1
cytoplasmic linker associated protein 1
2q14.2-q14.3
Rare single gene variant
2
5
4
De Rubeis S , et al. 2014
Edit
GEN1098
CMPK2
cytidine/uridine monophosphate kinase 2
2p25.2
Rare single gene variant
2
4
4
Iossifov I et al. 2014
Edit
GEN052
CNTNAP5
contactin associated protein-like 5
2q14.3
Genetic Association
3
24
16
Pagnamenta AT , et al. 2010
Edit
GEN1023
CTNNA2
catenin alpha 2
2p12
Syndromic
2
10
5
Schaffer AE , et al. 2018
Edit
GEN409
CUL3
Cullin 3
2q36.2
Rare single gene variant
4
56
35
O'Roak BJ , et al. 2012
Edit
GEN1017
CYP27A1
cytochrome P450 family 27 subfamily A member 1
2q35
Syndromic
0
15
6
Stelten BML , et al. 2017
Edit
GEN067
DLX1
distal-less homeobox 1
2q31.1
Genetic Association
2
5
9
Liu X , et al. 2008
Edit
GEN068
DLX2
distal-less homeobox 2
2q31.1
Genetic Association
2
11
Liu X , et al. 2008
Edit
GEN395
DNER
Delta/notch-like EGF repeat containing
2q36.3
Genetic association
2
4
3
Anney R , et al. 2012
Edit
GEN762
DNMT3A
DNA (cytosine-5-)-methyltransferase 3 alpha
2p23.3
Rare single gene variant
4
116
32
Sanders SJ , et al. 2015
Edit
GEN539
DOCK10
Dedicator of cytokinesis 10
2q36.2
Rare single gene variant
2
Yes
4
2
Nava C , et al. 2013
Edit
GEN072
DPP10
Dipeptidyl-peptidase 10
2q14.1
Rare Single Gene variant
2
16
13
Marshall CR , et al. 2008
Edit
GEN750
DPP4
Dipeptidyl-peptidase 4
2q24.2
Rare single gene variant
2
Yes
6
6
Lim ET , et al. 2013
Edit
GEN365
EPC2
Enhancer of polycomb homolog 2 (Drosophila)
2q23.1
Rare single gene variant
2
7
6
Jaillard S , et al. 2008
Edit
GEN081
ERBB4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
2q34
Rare Single Gene variant
2
15
18
Pinto D , et al. 2010
Edit
GEN838
ERMN
ermin
2q24.1
Rare single gene variant
3
8
1
Homs A , et al. 2016
Edit
GEN525
EXOC6B
exocyst complex component 6B
2p13.2
Rare single gene variant
2
7
5
Frhmesser A , et al. 2013
Edit
GEN1027
FBXO11
F-box protein 11
2p16.3
Rare single gene variant
4
80
12
Krumm N , et al. 2015
Edit
GEN606
GAD1
Glutamate decarboxylase 1 (brain, 67kDa)
2q31.1
Functional
2
4
7
Yip J , et al. 2007
Edit
GEN102
GALNT13
polypeptide N-acetylgalactosaminyltransferase 13
2q23.3-q24.1
Rare Single Gene variant
2
7
5
Bucan M , et al. 2009
Edit
GEN396
GALNT14
polypeptide N-acetylgalactosaminyltransferase 14
2p23.1
Genetic association
2
11
7
Anney R , et al. 2012
Edit
GEN721
GIGYF2
GRB10 interacting GYF protein 2
2q37.1
Rare single gene variant
3
26
9
De Rubeis S , et al. 2014
Edit
GEN535
GPD2
glycerol-3-phosphate dehydrogenase 2
2q24.1
Rare single gene variant
2
Yes
6
5
Barge-Schaapveld DQ , et al. 2013
Edit
GEN117
HDAC4
histone deacetylase 4
2q37.3
Syndromic
3
19
18
Williams SR , et al. 2010
Edit
GEN1004
HDLBP
high density lipoprotein binding protein
2q37.3
Multigenic CNV
3
8
6
O'Roak BJ , et al. 2012
Edit
GEN737
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
2q32.3
Rare single gene variant
3
51
19
Krumm N , et al. 2015
Edit
GEN132
IL1R2
interleukin 1 receptor, type II
2q11.2
Rare Single Gene variant
2
5
8
O'Roak BJ , et al. 2011
Edit
GEN135
INPP1
inositol polyphosphate-1-phosphatase
2q32.2
Genetic Association
2
4
5
Serajee FJ , et al. 2003
Edit
GEN136
ITGA4
integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
2q31.3
Genetic Association
2
11
7
Ramoz N , et al. 2008
Edit
GEN1058
KCNS3
potassium voltage-gated channel modifier subfamily S member 3
2p24.2
Rare single gene variant
2
5
6
De Rubeis S , et al. 2014
Edit
GEN1386
KDM3A
lysine demethylase 3A
2p11.2
Rare single gene variant
3
18
4
De Rubeis S , et al. 2014
Edit
GEN1243
KIF1A
kinesin family member 1A
2q37.3
Rare single gene variant
3
20
14
Tomaselli PJ et al. 2017
Edit
GEN389
KIF5C
Kinesin family member 5C
2q23.1-q23.2
Rare single gene variant
3
36
14
Awadalla P , et al. 2010
Edit
GEN1311
KLF7
Kruppel like factor 7
2q33.3
Multigenic CNV
3
18
14
Powis Z et al. 2018
Edit
GEN1026
LNPK
lunapark, ER junction formation factor
2q31.1
Syndromic
15
4
Breuss MW , et al. 2018
Edit
GEN362
LRP2
LDL receptor related protein 2
2q31.1
Rare single gene variant
4
69
20
Ionita-Laza I , et al. 2012
Edit
GEN436
LRPPRC
leucine rich pentatricopeptide repeat containing
2p21
Functional
2
6
6
Anitha A , et al. 2012
Edit
GEN668
MAL
mal, T-cell differentiation protein
2q11.1
Functional
0
2
Gupta S , et al. 2014
Edit
GEN150
MAP2
microtubule-associated protein 2
2q34
Rare Single Gene variant
2
5
7
Mukaetova-Ladinska EB , et al. 2004
Edit
GEN1369
MAP4K4
mitogen-activated protein kinase kinase kinase kinase 4
2q11.2
Rare single gene variant
3
4
2
Zhou X et al. 2022
Edit
GEN345
MBD5
Methyl-CpG binding domain protein 5
2q23.1
Rare single gene variant
4
125
43
Wagenstaller J , et al. 2007
Edit
GEN1000
MCM6
minichromosome maintenance complex component 6
2q21.3
Rare single gene variant
3
10
4
Iossifov I et al. 2014
Edit
GEN1091
MEMO1
mediator of cell motility 1
2p22.3
Rare single gene variant
2
1
2
Iossifov I et al. 2014
Edit
GEN438
MTX2
Metaxin 2
2q31.1
Functional
0
1
Anitha A , et al. 2012
Edit
GEN533
MYT1L
Myelin transcription factor 1-like
2p25.3
Multigenic CNV
5
147
39
Meyer KJ , et al. 2011
Edit
GEN650
NCKAP1
NCK-associated protein 1
2q32.1
Rare single gene variant
4
39
15
Iossifov I , et al. 2012
Edit
GEN492
NCKAP5
NCK-associated protein 5
2q21.2
Rare single gene variant
2
10
3
Prasad A , et al. 2013
Edit
GEN1170
NCOA1
nuclear receptor coactivator 1
2p23.3
Rare single gene variant
3
7
4
Iossifov I et al. 2014
Edit
GEN176
NPAS2
neuronal PAS domain protein 2
2q11.2
Genetic Association
3
4
Nicholas B , et al. 2007
Edit
GEN1016
NR4A2
nuclear receptor subfamily 4 group A member 2
2q24.1
Rare single gene variant
3
20
10
Lvy J , et al. 2018
Edit
GEN178
NRP2
neuropilin 2
2q33.3
Genetic Association
2
6
10
Wu S , et al. 2007
Edit
GEN179
NRXN1
neurexin 1
2p16.3
Rare Single Gene variant
5
Yes
361
113
Feng J , et al. 2006
Edit
GEN376
OTX1
orthodenticle homeobox 1
2p15
Genetic association
4
3
Liu X , et al. 2011
Edit
GEN1067
PAPOLG
poly(A) polymerase gamma
2p16.1
Rare single gene variant
3
10
6
De Rubeis S , et al. 2014
Edit
GEN391
PARD3B
Par-3 partitioning defective 3 homolog B (C. elegans)
2q33.3
Genetic association
2
13
9
Anney R , et al. 2012
Edit
GEN948
PDCD1
programmed cell death 1
2q37.3
Rare single gene variant
2
3
4
O'Roak BJ , et al. 2012
Edit
GEN276
PECR
peroxisomal trans-2-enoyl-CoA reductase
2q35
Rare Single Gene variant
0
Yes
4
3
Najmabadi H , et al. 2011
Edit
GEN899
PER2
period circadian clock 2
2q37.3
Rare single gene variant
3
14
8
Iossifov I et al. 2014
Edit
GEN1114
PLCD4
phospholipase C delta 4
2q35
Rare single gene variant
2
4
5
De Rubeis S , et al. 2014
Edit
GEN1092
POU3F3
POU class 3 homeobox 3
2q12.1
Syndromic
3
41
4
Snijders Blok L , et al. 2019
Edit
GEN1293
PTPN4
protein tyrosine phosphatase non-receptor type 4
2q14.2
Syndromic
2
10
5
Chmielewska JJ et al. 2021
Edit
GEN534
PXDN
peroxidasin
2p25.3
Multigenic CNV
2
12
8
Meyer KJ , et al. 2011
Edit
GEN370
RAB11FIP5
RAB11 family interacting protein 5
2p13.2
Rare single gene variant
2
5
6
Roohi J , et al. 2008
Edit
GEN209
RAPGEF4
Rap guanine nucleotide exchange factor (GEF) 4
2q31.1
Rare Single Gene variant, Genetic Association
3
10
18
Bacchelli E , et al. 2003
Edit
GEN1266
RIF1
replication timing regulatory factor 1
2q23.3
Rare single gene variant
3
13
3
Wilfert AB et al. 2021
Edit
GEN1122
RNF25
ring finger protein 25
2q35
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN346
SATB2
SATB homeobox 2
2q33.1
Syndromic
4
228
45
Talkowski ME , et al. 2012
Edit
GEN223
SCN1A
sodium channel, voltage-gated, type I, alpha subunit
2q24.3
Rare Single Gene variant
4
269
99
Weiss LA , et al. 2003
Edit
GEN224
SCN2A
sodium channel, voltage-gated, type II, alpha subunit
2q24.3
Rare Single Gene variant
5
426
126
Weiss LA , et al. 2003
Edit
GEN485
SCN7A
sodium voltage-gated channel alpha subunit 7
2q24.3
Rare Single Gene variant
3
Yes
10
7
Morrow EM , et al. 2008
Edit
GEN861
SCN9A
sodium voltage-gated channel alpha subunit 9
2q24.3
Rare single gene variant
3
36
10
Rubinstein M , et al. 2016
Edit
GEN1071
SF3B1
splicing factor 3b subunit 1
2q33.1
Rare single gene variant
3
10
6
De Rubeis S , et al. 2014
Edit
GEN1125
SH3RF3
SH3 domain containing ring finger 3
2q13
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN232
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
2q31.1
Genetic Association
0
20
26
Ramoz N , et al. 2004
Edit
GEN835
SLC30A3
solute carrier family 30 member 3
2p23.3
Functional
0
2
Yoo MH , et al. 2016
Edit
GEN234
SLC4A10
solute carrier family 4, sodium bicarbonate transporter-like, member 10
2q24.2
Genetic Association
3
U
23
10
Sebat J , et al. 2007
Edit
GEN360
SNTG2
syntrophin gamma 2
2p25.3
Rare single gene variant
2
6
7
Rosenfeld JA , et al. 2010
Edit
GEN348
SPAST
Spastin
2p22.3
Rare Single Gene variant
3
16
17
Talkowski ME , et al. 2012
Edit
GEN947
SPP2
secreted phosphoprotein 2
2q37.1
Rare single gene variant
2
5
4
Neale BM , et al. 2012
Edit
GEN1244
SPTBN1
spectrin beta, non-erythrocytic 1
2p16.2
Rare single gene variant
4
55
11
Iossifov I et al. 2014
Edit
GEN556
SRD5A2
steroid 5 alpha-reductase 2
2p23.1
Genetic association
2
3
4
Zettergren A , et al. 2013
Edit
GEN842
STAT1
signal transducer and activator of transcription 1
2q32.2
Rare single gene variant
2
2
3
Filiano AJ , et al. 2016
Edit
GEN241
STK39
serine threonine kinase 39 (STE20/SPS1 homolog, yeast)
2q24.3
Genetic Association
3
5
Ramoz N , et al. 2008
Edit
GEN477
TBR1
T-box, brain, 1
2q24.2
Rare Single Gene variant
5
80
43
O'Roak BJ , et al. 2012
Edit
GEN1144
TET3
tet methylcytosine dioxygenase 3
2p13.1
Rare single gene variant
3
20
7
Beck DB , et al. 2020
Edit
GEN566
TM4SF20
Transmembrane 4 L six family member 20
2q36.3
Rare single gene variant
2
18
4
Wiszniewski W , et al. 2013
Edit
GEN381
TPO
Thyroid peroxidase
2p25.3
Genetic association
2
1
Ramos PS , et al. 2012
Edit
GEN354
TRIP12
Thyroid hormone receptor interactor 12
2q36.3
Rare single gene variant
4
Yes
131
38
Chahrour MH , et al. 2012
Edit
GEN258
TSN
translin
2q14.3
Functional
0
3
Stein JM , et al. 2006
Edit
GEN260
TTN
titin
2q31.2
Rare Single Gene variant
4
164
33
O'Roak BJ , et al. 2011
Edit
GEN873
UNC80
unc-80 homolog, NALCN activator
2q34
Rare single gene variant
3
22
12
Iossifov I et al. 2014
Edit
GEN665
VIL1
Villin 1
2q35
Rare single gene variant
2
19
4
De Rubeis S , et al. 2014
Edit
GEN1416
VPS54
VPS54subunit of GARP complex
2p15-p14
Rare single gene variant
2
4
3
Cirnigliaro M et al. 2023
Edit
GEN377
XPO1
exportin 1
2p15
Genetic association
2
10
8
Liu X , et al. 2011
Edit
GEN602
ZNF385B
Zinc finger protein 385B
2q31.2-q31.3
Genetic association
2
8
3
Maestrini E , et al. 2009
Edit
GEN1285
ZNF638
zinc finger protein 638
2p13.2
Rare single gene variant
3
8
4
Wilfert AB et al. 2021
Edit
GEN618
ZNF804A
Zinc finger protein 804A
2q32.1
Genetic association
2
24
16
Anitha A , et al. 2014
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
2p11.1
Duplication
2
2
2p11.2
Deletion-Duplication
27
2
2p11.2-p11.1
Duplication
2
2
2p11.2-q12.1
Duplication
1
2
2p12
Deletion-Duplication
20
2
2p12-p11.2
Deletion
1
2
2p13.1
Deletion-Duplication
8
2
2p13.1-p12
Duplication
5
2
2p13.2
Deletion-Duplication
10
2
2p13.3
Deletion
8
2
2p13.3-p12
Deletion
2
2
2p13.3-p13.1
Deletion
1
2
2p13.3-p13.2
Deletion
3
2
2p14
Deletion-Duplication
14
2
2p15
Deletion-Duplication
18
2
2p15-p14
Deletion-Duplication
2
2
2p16.1
Deletion-Duplication
20
2
2p16.1-p14
Deletion
1
2
2p16.1-p15
Deletion
10
2
2p16.2
Deletion-Duplication
14
2
2p16.3
Deletion-Duplication
81
2
2p16.3-p16.2
Deletion-Duplication
3
2
2p21
Deletion-Duplication
28
2
2p21-p16.3
Deletion
5
2
2p22.1
Deletion-Duplication
16
2
2p22.1-p16.1
Duplication
1
2
2p22.2
Deletion-Duplication
9
2
2p22.3
Deletion-Duplication
37
2
2p22.3-p21
Duplication
1
2
2p22.3-p22.2
Duplication
1
2
2p23.1
Deletion
7
2
2p23.1-p22.3
N/A
2
2
2p23.2
Deletion-Duplication
7
2
2p23.3
Deletion
13
2
2p23.3-p16.3
Duplication
1
2
2p24.1
Deletion-Duplication
10
2
2p24.2
Deletion-Duplication
8
2
2p24.2-p24.1
Deletion
1
2
2p24.3
Deletion-Duplication
8
2
2p25
Duplication
1
2
2p25.1
Deletion-Duplication
12
2
2p25.1-p24.2
Deletion
2
2
2p25.1-p24.3
Duplication
2
2
2p25.2
Deletion-Duplication
7
2
2p25.2-p24.3
Deletion
4
2
2p25.2-p25.1
Deletion-Duplication
4
2
2p25.3
Deletion-Duplication
45
2
2p25.3-p16.1
Duplication
1
2
2p25.3-p23.1
Duplication
1
2
2p25.3-p24.3
Duplication
1
2
2p25.3-p25.1
Duplication
3
2
2p25.3-p25.2
Duplication
4
2
2q11.1
Duplication
8
2
2q11.1-q11.2
Deletion
3
2
2q11.1-q12.1
Duplication
1
2
2q11.2
Deletion-Duplication
24
2
2q11.2-q12.3
Duplication
1
2
2q11.2-q13
Duplication
4
2
2q12.1
Deletion
2
2
2q12.1-q12.2
Deletion-Duplication
1
2
2q12.1-q12.3
Deletion
1
2
2q12.1-q13
Deletion
2
2
2q12.2
Deletion
3
2
2q12.2-q12.3
Duplication
11
2
2q12.2-q13
Duplication
2
2
2q12.2-q24.1
Duplication
1
2
2q12.3
Deletion-Duplication
4
2
2q12.3-q13
Deletion-Duplication
2
2
2q13
Deletion-Duplication
46
2
2q13-q23.3
Duplication
1
2
2q14.1
Deletion-Duplication
15
2
2q14.1-q14.2
Duplication
2
2
2q14.1-q21.3
Deletion
1
2
2q14.2
Deletion-Duplication
14
2
2q14.2-q14.3
Duplication
1
2
2q14.3
Deletion-Duplication
18
2
2q14.3-q21.1
Duplication
2
2
2q14.3-q24.3
Duplication
1
2
2q21.1
Deletion-Duplication
13
2
2q21.1-q21.2
Deletion
2
2
2q21.2
Duplication
14
2
2q21.2-q21.3
Duplication
2
2
2q21.3
Deletion
8
2
2q22.1
Deletion-Duplication
15
2
2q22.1-q22.2
Deletion
2
2
2q22.1-q22.3
Deletion
2
2
2q22.1-q23.1
Duplication
1
2
2q22.1-q24.3
Duplication
1
2
2q22.2
Deletion
5
2
2q22.2-q22.3
Deletion-Duplication
4
2
2q22.2-q23.1
Duplication
1
2
2q22.2-q24.2
Duplication
1
2
2q22.3
Deletion
5
2
2q22.3-q23.1
Deletion
7
2
2q22.3-q23.2
Duplication
2
2
2q22.3-q23.3
Deletion
5
2
2q22.3-q24.1
Deletion
1
2
2q23.1
Deletion-Duplication
26
2
2q23.1-q23.3
Deletion
2
2
2q23.1-q24.3
Deletion
1
2
2q23.2
Deletion
3
2
2q23.2-q23.3
Duplication
1
2
2q23.3
Deletion
10
2
2q23.3-q24.1
Deletion
5
2
2q23.3-q24.3
Deletion
1
2
2q24.1
Deletion-Duplication
16
2
2q24.1-q24.2
Deletion-Duplication
7
2
2q24.1-q24.3
Deletion
3
2
2q24.1-q31.1
Deletion
1
2
2q24.2
Deletion-Duplication
17
2
2q24.2-q24.3
Deletion
5
2
2q24.2-q31.1
Deletion
1
2
2q24.3
Deletion
19
2
2q24.3-q31.1
Deletion
3
2
2q24.3-q32.1
Deletion
1
2
2q31.1
Deletion-Duplication
16
2
2q31.1-q31.2
Deletion
3
2
2q31.1-q31.3
Deletion
2
2
2q31.1-q32.1
Deletion
1
2
2q31.1-q33.1
Deletion
2
2
2q31.1-q33.2
Deletion
1
2
2q31.2
Deletion-Duplication
17
2
2q31.2-q32.1
Deletion
1
2
2q31.2-q33.1
Deletion
1
2
2q31.3
Deletion-Duplication
7
2
2q31.3-q32.1
Deletion
1
2
2q31.3-q36.1
Duplication
1
2
2q32-q33
Deletion
1
2
2q32.1
Deletion-Duplication
27
2
2q32.1-q32.2
Deletion
1
2
2q32.1-q33.3
Duplication
2
2
2q32.2
Deletion
5
2
2q32.2-q37.3
Duplication
1
2
2q32.3
Deletion-Duplication
12
2
2q32.3-q33.1
Duplication
5
2
2q32.3-q37.3
Duplication
1
2
2q33.1
Deletion-Duplication
24
2
2q33.1-q33.2
Deletion
2
2
2q33.1-q34
Deletion
3
2
2q33.2
Deletion
3
2
2q33.2-q33.3
Deletion
1
2
2q33.2-q35
Deletion
1
2
2q33.3
Deletion-Duplication
10
2
2q33.3-q34
Deletion
3
2
2q34
Deletion-Duplication
25
2
2q34-q35
Duplication
3
2
2q34-q36.3
Duplication
1
2
2q35
Deletion-Duplication
14
2
2q35-q36.3
Deletion-Duplication
1
2
2q36.1
Deletion-Duplication
10
2
2q36.1-q36.2
Deletion
2
2
2q36.1-q37.1
Duplication
2
2
2q36.1-q37.3
Duplication
1
2
2q36.2
Deletion
5
2
2q36.2-q36.3
Deletion
1
2
2q36.3
Deletion-Duplication
22
2
2q36.3-q37.2
Deletion
1
2
2q36.3-q37.3
Deletion-Duplication
2
2
2q37.1
Deletion-Duplication
20
2
2q37.1-q37.2
Duplication
1
2
2q37.1-q37.3
Deletion
10
2
2q37.2
Deletion-Duplication
9
2
2q37.2-q37.3
Deletion
9
2
2q37.3
Deletion-Duplication
59
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Rapgef4
Rap guanine nucleotide exchange factor (GEF) 4
Mus musculus
Unknown
Shibasaki T , et al. 2007
2
2
Tbr1
T-box brain gene1
Mus musculus
Hevner RF , et al. 2001
10
31
Npas2
neuronal PAS domain protein 2
Mus musculus
Unknown
Garcia JA , et al. 2000
3
2
Nrp2
neuropilin 2
Mus musculus
Unknown
Giger RJ , et al. 2000
2
4
Gad1
glutamate decarboxylase 1
Mus musculus
et al.
1
1
Hem
HEM-protein
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Slc4a10
solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
Mus musculus
Unknown
Jacobs S , et al. 2008
1
1
Hdac4
Histone deacetylase 4
Mus musculus
Unknown
Vega RB , et al. 2004
1
2
SPTBN1
Spectrin beta, non-erythrocytic 1
Mus musculus
NA
Lorenzo DN et al. 2019
2
4
Nrx-1
Neurexin 1
Drosophila melanogaster
Larkin A , et al. 2015
3
60
Nrxn1
Neurexin 1
Mus musculus
Unknown
Geppert M , et al. 1998
3
7
Nrxn1
neurexin 1
Rattus norvegicus
Unknown
Esclassan F , et al. 2014
3
2
Gyf
Gigyf
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Stat1
Signal transducer and activator of transcription 1
Mus musculus
Filiano AJ , et al. 2016
1
2
Stk39
Seine/threonin kinase 39, STE20/SPS1 homolog (yeast)
Mus musculus
Unknown
Geng Y , et al. 2009
1
1
baz
bazooka
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Slc25a12
solute carrier family 25 (Mitochondrial carrier, Aralar), member 12
Mus musculus
Unknown
Jalil MA , et al. 2005
2
4
Scn1a
sodium channel, voltage-gated, type I, alpha
Mus musculus
Unknown
Ogiwara I , et al. 2007
7
19
Scn1a
sodium channel, voltage-gated, type I, alpha
Rattus norvegicus
Unknown
Ohmori I , et al. 2014
1
2
para
paralytic
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Scn2a
sodium channel, voltage-gated, type II, alpha I
Mus musculus
Unknown
Planells-Cases R , et al. 2000
6
9
Slc30a3
Solute carrier family 30 (zinc transporter), member 3
Mus musculus
2p23.3
Yoo MH , et al. 2016
1
2
myt1la
myelin transcription factor 1-like, a
Danio rerio
Blanchet P , et al. 2017
1
2
Myt1l
Myelin transcription factor 1-like protein
Mus musculus
Na
Chen J et al. 2021
3
5
Cul3
cullin 3
Mus musculus
et al.
5
17
Dnmt3a
DNA methyltransferase 3A
Mus musculus
NA
Okano M et al. 1999
3
4
Klf7
Kruppel-like factor 7 (ubiquitous)
Mus musculus
Tian H et al. 2022
2
7
Spast
Spastin
Mus musculus
Tarrade A , et al. 2006
1
1
Bcl11a
B cell CLL/lymphoma 11A (zinc finger protein)
Mus musculus
2p16.1
Dias C , et al. 2016
3
4
ctrip
circadian trip
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Erbb4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
Mus musculus
Unknown
Fisahn A , et al. 2008
3
2
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
AGAP1
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
15
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
42
BIN1
bridging integrator 1
10
BIRC6
baculoviral IAP repeat containing 6
22
CNTNAP5
contactin associated protein-like 5
1
CUL3
cullin 3
1281
DLX1
distal-less homeobox 1
2
DLX2
distal-less homeobox 2
20
DPP10
dipeptidyl-peptidase 10 (non-functional)
3
EPC2
enhancer of polycomb homolog 2 (Drosophila)
25
ERBB4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
2
ERMN
Ermin
3
GALNT13
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
3
HDAC4
histone deacetylase 4
52
INPP1
Inositol polyphosphate 1-phosphatase
12
KIF5C
kinesin family member 5C
12
LRP2
low density lipoprotein receptor-related protein 2
78
LRPPRC
leucine-rich pentatricopeptide repeat containing
3
MAP2
Microtubule-associated protein 2
6
MBD5
methyl-CpG binding domain protein 5
20
MTX2
metaxin 2
10
NCKAP1
NCK-associated protein 1
43
NPAS2
neuronal PAS domain protein 2
14
NRP2
neuropilin 2
43
NRXN1
neurexin 1
76
PXDN
peroxidasin homolog (Drosophila)
21
RAPGEF4
Rap guanine nucleotide exchange factor (GEF) 4
17
SATB2
SATB homeobox 2
51
SCN1A
Sodium channel protein type 1 subunit alpha
3
SCN2A
sodium channel, voltage-gated, type II, alpha subunit
17
SLC25A12
solute carrier family 25 (aspartate/glutamate carrier), member 12
11
SLC4A10
solute carrier family 4, sodium bicarbonate transporter, member 10
3
SNTG2
syntrophin, gamma 2
18
STK39
serine threonine kinase 39
13
TBR1
T-box, brain, 1
82
TRIP12
thyroid hormone receptor interactor 12
30
TSN
translin
4
XPO1
exportin 1 (CRM1 homolog, yeast)
6
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