abnormal intercellular signaling peptide or protein level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal concentration of any regulatory protein or peptide that is a signaling molecule involved in the process of paracrine communication (Mammalian Phenotype Ontology, MP_0008835)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008835
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Genes

311 gene mutations causing the abnormal intercellular signaling peptide or protein level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACE angiotensin I converting enzyme
ACKR1 atypical chemokine receptor 1 (Duffy blood group)
ACKR4 atypical chemokine receptor 4
ADAM17 ADAM metallopeptidase domain 17
ADAR adenosine deaminase, RNA-specific
ADORA2B adenosine A2b receptor
AHR aryl hydrocarbon receptor
AIM2 absent in melanoma 2
AIRE autoimmune regulator
APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ARID5A AT rich interactive domain 5A (MRF1-like)
ARRB2 arrestin, beta 2
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ATF2 activating transcription factor 2
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
B2M beta-2-microglobulin
BAG4 BCL2-associated athanogene 4
BBS12 Bardet-Biedl syndrome 12
BCL2L12 BCL2-like 12 (proline rich)
BCL6 B-cell CLL/lymphoma 6
BRD2 bromodomain containing 2
C3 complement component 3
C3AR1 complement component 3a receptor 1
C5AR1 complement component 5a receptor 1
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASP12 caspase 12 (gene/pseudogene)
CASP4 caspase 4, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCL13 chemokine (C-C motif) ligand 13
CCR1 chemokine (C-C motif) receptor 1
CCR3 chemokine (C-C motif) receptor 3
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD14 CD14 molecule
CD19 CD19 molecule
CD200 CD200 molecule
CD28 CD28 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLCA1 chloride channel accessory 1
CLEC4D C-type lectin domain family 4, member D
CLEC4E C-type lectin domain family 4, member E
CLEC7A C-type lectin domain family 7, member A
CLIC4 chloride intracellular channel 4
CPB2 carboxypeptidase B2 (plasma)
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CSF1R colony stimulating factor 1 receptor
CTSC cathepsin C
CTSE cathepsin E
CUX1 cut-like homeobox 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL16 chemokine (C-X-C motif) ligand 16
CXCL6 chemokine (C-X-C motif) ligand 6
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR3 chemokine (C-X-C motif) receptor 3
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DGKZ diacylglycerol kinase, zeta
DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58
DMD dystrophin
DTX1 deltex 1, E3 ubiquitin ligase
DUSP1 dual specificity phosphatase 1
EGR1 early growth response 1
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
F2R coagulation factor II (thrombin) receptor
F2RL1 coagulation factor II (thrombin) receptor-like 1
F3 coagulation factor III (thromboplastin, tissue factor)
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
FFAR2 free fatty acid receptor 2
FLG filaggrin
FLT3 fms-related tyrosine kinase 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXN1 forkhead box N1
FOXO1 forkhead box O1
FOXP3 forkhead box P3
FYN FYN proto-oncogene, Src family tyrosine kinase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBP5 guanylate binding protein 5
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GPR183 G protein-coupled receptor 183
GPR21 G protein-coupled receptor 21
HCK HCK proto-oncogene, Src family tyrosine kinase
HEXB hexosaminidase B (beta polypeptide)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HRH4 histamine receptor H4
HSPB8 heat shock 22kDa protein 8
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTRA2 HtrA serine peptidase 2
ICAM1 intercellular adhesion molecule 1
ICOS inducible T-cell co-stimulator
ICOSLG inducible T-cell co-stimulator ligand
IDO1 indoleamine 2,3-dioxygenase 1
IER3 immediate early response 3
IFIH1 interferon induced with helicase C domain 1
IFIT2 interferon-induced protein with tetratricopeptide repeats 2
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL12A interleukin 12A
IL12B interleukin 12B
IL12RB1 interleukin 12 receptor, beta 1
IL12RB2 interleukin 12 receptor, beta 2
IL13 interleukin 13
IL13RA1 interleukin 13 receptor, alpha 1
IL13RA2 interleukin 13 receptor, alpha 2
IL17A interleukin 17A
IL17RC interleukin 17 receptor C
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL25 interleukin 25
IL27 interleukin 27
IL27RA interleukin 27 receptor, alpha
IL31RA interleukin 31 receptor A
IL4R interleukin 4 receptor
IL5 interleukin 5
IL6 interleukin 6
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
ING4 inhibitor of growth family, member 4
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK2 interleukin-1 receptor-associated kinase 2
IRAK4 interleukin-1 receptor-associated kinase 4
IRF1 interferon regulatory factor 1
IRF3 interferon regulatory factor 3
IRF5 interferon regulatory factor 5
IRF7 interferon regulatory factor 7
ITGAD integrin, alpha D
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT1 keratin 1, type II
LAT2 linker for activation of T cells family, member 2
LBP lipopolysaccharide binding protein
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein
LGMN legumain
LIF leukemia inhibitory factor
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LRRC4C leucine rich repeat containing 4C
LTA lymphotoxin alpha
LYN LYN proto-oncogene, Src family tyrosine kinase
MAGED1 melanoma antigen family D1
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase
MAVS mitochondrial antiviral signaling protein
MB21D1 Mab-21 domain containing 1
MC4R melanocortin 4 receptor
MCAM melanoma cell adhesion molecule
MEFV Mediterranean fever
MEP1A meprin A, alpha (PABA peptide hydrolase)
MERTK MER proto-oncogene, tyrosine kinase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MINA MYC induced nuclear antigen
MIR122 microRNA 122
MMP19 matrix metallopeptidase 19
MMP9 matrix metallopeptidase 9
MPL MPL proto-oncogene, thrombopoietin receptor
MST1R macrophage stimulating 1 receptor
MSTN myostatin
MTA2 metastasis associated 1 family, member 2
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYD88 myeloid differentiation primary response 88
NCKAP1L NCK-associated protein 1-like
NCOA3 nuclear receptor coactivator 3
NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein
NFE2L2 nuclear factor, erythroid 2-like 2
NFIL3 nuclear factor, interleukin 3 regulated
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NGFR nerve growth factor receptor
NLRC3 NLR family, CARD domain containing 3
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NLRP6 NLR family, pyrin domain containing 6
NLRX1 NLR family member X1
NMU neuromedin U
NOD2 nucleotide-binding oligomerization domain containing 2
NPY1R neuropeptide Y receptor Y1
OASL 2'-5'-oligoadenylate synthetase-like
OLFM4 olfactomedin 4
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OSMR oncostatin M receptor
PACSIN1 protein kinase C and casein kinase substrate in neurons 1
PARG poly (ADP-ribose) glycohydrolase
PARP1 poly (ADP-ribose) polymerase 1
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE4D phosphodiesterase 4D, cAMP-specific
PELI1 pellino E3 ubiquitin protein ligase 1
PGLYRP2 peptidoglycan recognition protein 2
PILRB paired immunoglobin-like type 2 receptor beta
PLA2G10 phospholipase A2, group X
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLAUR plasminogen activator, urokinase receptor
PLCD1 phospholipase C, delta 1
POMC proopiomelanocortin
PPIA peptidylprolyl isomerase A (cyclophilin A)
PPT1 palmitoyl-protein thioesterase 1
PRF1 perforin 1 (pore forming protein)
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKCE protein kinase C, epsilon
PTGDR2 prostaglandin D2 receptor 2
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PYCARD PYD and CARD domain containing
RAB27A RAB27A, member RAS oncogene family
RAMP1 receptor (G protein-coupled) activity modifying protein 1
RC3H1 ring finger and CCCH-type domains 1
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RHBDD3 rhomboid domain containing 3
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RNF128 ring finger protein 128, E3 ubiquitin protein ligase
RORC RAR-related orphan receptor C
RSAD2 radical S-adenosyl methionine domain containing 2
RUNX3 runt-related transcription factor 3
S100A9 S100 calcium binding protein A9
S1PR3 sphingosine-1-phosphate receptor 3
SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1
SARM1 sterile alpha and TIR motif containing 1
SCARB1 scavenger receptor class B, member 1
SELK selenoprotein K
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SFTPA1 surfactant protein A1
SFTPD surfactant protein D
SH3BP2 SH3-domain binding protein 2
SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin
SIRT3 sirtuin 3
SIRT7 sirtuin 7
SLAMF6 SLAM family member 6
SLPI secretory leukocyte peptidase inhibitor
SMAD3 SMAD family member 3
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SOCS1 suppressor of cytokine signaling 1
SOCS2 suppressor of cytokine signaling 2
SORT1 sortilin 1
SPHK1 sphingosine kinase 1
SPON2 spondin 2, extracellular matrix protein
SPP1 secreted phosphoprotein 1
SRA1 steroid receptor RNA activator 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT4 signal transducer and activator of transcription 4
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STX11 syntaxin 11
TBC1D23 TBC1 domain family, member 23
TBK1 TANK-binding kinase 1
TBX21 T-box 21
TGIF1 TGFB-induced factor homeobox 1
THBD thrombomodulin
TICAM1 toll-like receptor adaptor molecule 1
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TMEM173 transmembrane protein 173
TNF tumor necrosis factor
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TOLLIP toll interacting protein
TP53 tumor protein p53
TRADD TNFRSF1A-associated via death domain
TRAF2 TNF receptor-associated factor 2
TRAFD1 TRAF-type zinc finger domain containing 1
TREM2 triggering receptor expressed on myeloid cells 2
TRIM21 tripartite motif containing 21
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TSLP thymic stromal lymphopoietin
TWIST2 twist family bHLH transcription factor 2
TXNDC2 thioredoxin domain containing 2 (spermatozoa)
TYK2 tyrosine kinase 2
UNC93B1 unc-93 homolog B1 (C. elegans)
USP18 ubiquitin specific peptidase 18
USP21 ubiquitin specific peptidase 21
VAV1 vav 1 guanine nucleotide exchange factor
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
ZC3H12A zinc finger CCCH-type containing 12A
ZFPM1 zinc finger protein, FOG family member 1