abnormal brain size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from the average range of brain size for an organism (Mammalian Phenotype Ontology, MP_0000771)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000771
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Genes

206 gene mutations causing the abnormal brain size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AATK apoptosis-associated tyrosine kinase
ADIPOR2 adiponectin receptor 2
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKAP13 A kinase (PRKA) anchor protein 13
AKT3 v-akt murine thymoma viral oncogene homolog 3
APAF1 apoptotic peptidase activating factor 1
APP amyloid beta (A4) precursor protein
ARHGAP33 Rho GTPase activating protein 33
ARID1A AT rich interactive domain 1A (SWI-like)
ARL4D ADP-ribosylation factor-like 4D
ARNT aryl hydrocarbon receptor nuclear translocator
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASS1 argininosuccinate synthase 1
ATF2 activating transcription factor 2
ATR ATR serine/threonine kinase
ATXN1 ataxin 1
ATXN7 ataxin 7
AXIN1 axin 1
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BCKDK branched chain ketoacid dehydrogenase kinase
BDNF brain-derived neurotrophic factor
BHLHE22 basic helix-loop-helix family, member e22
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC88A coiled-coil domain containing 88A
CCNF cyclin F
CD81 CD81 molecule
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CENPJ centromere protein J
CERS1 ceramide synthase 1
CIT citron rho-interacting serine/threonine kinase
CLCN3 chloride channel, voltage-sensitive 3
CNBP CCHC-type zinc finger, nucleic acid binding protein
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSF cathepsin F
CUX2 cut-like homeobox 2
CXORF56 chromosome X open reading frame 56
CYCS cytochrome c, somatic
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DDIT3 DNA-damage-inducible transcript 3
DEDD death effector domain containing
DHCR7 7-dehydrocholesterol reductase
DISC1 disrupted in schizophrenia 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLG5 discs, large homolog 5 (Drosophila)
DRD1 dopamine receptor D1
DUSP3 dual specificity phosphatase 3
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFNA5 ephrin-A5
EGFR epidermal growth factor receptor
EIF4E2 eukaryotic translation initiation factor 4E family member 2
EIF4H eukaryotic translation initiation factor 4H
EN1 engrailed homeobox 1
ERF Ets2 repressor factor
ESR2 estrogen receptor 2 (ER beta)
FBXO45 F-box protein 45
FBXW8 F-box and WD repeat domain containing 8
FGFR2 fibroblast growth factor receptor 2
FOXG1 forkhead box G1
FOXP2 forkhead box P2
FRS2 fibroblast growth factor receptor substrate 2
GCM2 glial cells missing homolog 2 (Drosophila)
GHR growth hormone receptor
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GNPAT glyceronephosphate O-acyltransferase
GPR85 G protein-coupled receptor 85
HAP1 huntingtin-associated protein 1
HDAC2 histone deacetylase 2
HESX1 HESX homeobox 1
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGA2 high mobility group AT-hook 2
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HTRA2 HtrA serine peptidase 2
HTT huntingtin
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IFT88 intraflagellar transport 88
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IGF2R insulin-like growth factor 2 receptor
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
ITSN1 intersectin 1 (SH3 domain protein)
KAT6B K(lysine) acetyltransferase 6B
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KDM2B lysine (K)-specific demethylase 2B
KIDINS220 kinase D-interacting substrate, 220kDa
KIF14 kinesin family member 14
KIF1B kinesin family member 1B
KIF20B kinesin family member 20B
KIF5C kinesin family member 5C
KLF3 Kruppel-like factor 3 (basic)
LAMA2 laminin, alpha 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LHX2 LIM homeobox 2
LIAS lipoic acid synthetase
LMNB1 lamin B1
LMNB2 lamin B2
LMX1A LIM homeobox transcription factor 1, alpha
LPPR4 lipid phosphate phosphatase-related protein type 4
LRP6 low density lipoprotein receptor-related protein 6
MAGOH mago-nashi homolog, proliferation-associated (Drosophila)
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARCKS myristoylated alanine-rich protein kinase C substrate
MARCKSL1 MARCKS-like 1
MARK2 MAP/microtubule affinity-regulating kinase 2
MBD1 methyl-CpG binding domain protein 1
MBD5 methyl-CpG binding domain protein 5
MBOAT7 membrane bound O-acyltransferase domain containing 7
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NBEA neurobeachin
NCAM1 neural cell adhesion molecule 1
NDE1 nudE neurodevelopment protein 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NLGN3 neuroligin 3
NPC1 Niemann-Pick disease, type C1
NR2E1 nuclear receptor subfamily 2, group E, member 1
NRD1 nardilysin (N-arginine dibasic convertase)
OPHN1 oligophrenin 1
OTC ornithine carbamoyltransferase
OTP orthopedia homeobox
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAK1IP1 PAK1 interacting protein 1
PAPPA2 pappalysin 2
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDPK1 3-phosphoinositide dependent protein kinase 1
PEX2 peroxisomal biogenesis factor 2
PFDN5 prefoldin subunit 5
PHF2 PHD finger protein 2
PHGDH phosphoglycerate dehydrogenase
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIKFYVE phosphoinositide kinase, FYVE finger containing
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PPARD peroxisome proliferator-activated receptor delta
PPP1R9B protein phosphatase 1, regulatory subunit 9B
PPT1 palmitoyl-protein thioesterase 1
PPT2 palmitoyl-protein thioesterase 2
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PTEN phosphatase and tensin homolog
PTHLH parathyroid hormone-like hormone
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PTPRS protein tyrosine phosphatase, receptor type, S
PURA purine-rich element binding protein A
PYGO2 pygopus family PHD finger 2
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RERE arginine-glutamic acid dipeptide (RE) repeats
SCN1A sodium channel, voltage gated, type I alpha subunit
SELENBP1 selenium binding protein 1
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SETD2 SET domain containing 2
SFRP1 secreted frizzled-related protein 1
SHH sonic hedgehog
SIRT1 sirtuin 1
SIX3 SIX homeobox 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOX11 SRY (sex determining region Y)-box 11
SPEF2 sperm flagellar 2
SPTB spectrin, beta, erythrocytic
SSBP3 single stranded DNA binding protein 3
SYN2 synapsin II
SYNGAP1 synaptic Ras GTPase activating protein 1
TBR1 T-box, brain, 1
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TDGF1 teratocarcinoma-derived growth factor 1
TERT telomerase reverse transcriptase
TG thyroglobulin
TKT transketolase
TMEM67 transmembrane protein 67
TOP2B topoisomerase (DNA) II beta 180kDa
TP53 tumor protein p53
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TUBB2B tubulin, beta 2B class IIb
TULP3 tubby like protein 3
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VAMP7 vesicle-associated membrane protein 7
VCL vinculin
WASF1 WAS protein family, member 1
WWOX WW domain containing oxidoreductase
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC17 zinc finger, DHHC-type containing 17
ZIC2 Zic family member 2
ZNF24 zinc finger protein 24
ZNF423 zinc finger protein 423