germline Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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Genes

304 genes co-occuring with the biological term germline in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ACTN4 actinin, alpha 4
ADRB2 adrenoceptor beta 2, surface
AGO1 argonaute RISC catalytic component 1
AIP aryl hydrocarbon receptor interacting protein
ALK anaplastic lymphoma receptor tyrosine kinase
AMER1 APC membrane recruitment protein 1
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A
APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B
AR androgen receptor
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL11 ADP-ribosylation factor-like 11
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
AXIN2 axin 2
BABAM1 BRISC and BRCA1 A complex member 1
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BARD1 BRCA1 associated RING domain 1
BCCIP BRCA2 and CDKN1A interacting protein
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD7 bromodomain containing 7
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CASR calcium-sensing receptor
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCM2 cerebral cavernous malformation 2
CD14 CD14 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD44 CD44 molecule (Indian blood group)
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK4 cyclin-dependent kinase 4
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CLSPN claspin
COL18A1 collagen, type XVIII, alpha 1
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CTAGE1 cutaneous T-cell lymphoma-associated antigen 1
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DAZL deleted in azoospermia-like
DEFB4A defensin, beta 4A
DICER1 dicer 1, ribonuclease type III
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DMBT1 deleted in malignant brain tumors 1
DND1 DND microRNA-mediated repression inhibitor 1
DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1)
DPPA3 developmental pluripotency associated 3
DUX4L1 double homeobox 4 like 1
E2F3 E2F transcription factor 3
EGFR epidermal growth factor receptor
ELANE elastase, neutrophil expressed
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
EPHB2 EPH receptor B2
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR1 estrogen receptor 1
ETV6 ets variant 6
F5 coagulation factor V (proaccelerin, labile factor)
F8 coagulation factor VIII, procoagulant component
FANCA Fanconi anemia, complementation group A
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FASN fatty acid synthase
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FEN1 flap structure-specific endonuclease 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFR4 fibroblast growth factor receptor 4
FH fumarate hydratase
FLCN folliculin
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FOXP3 forkhead box P3
FSHR follicle stimulating hormone receptor
FZD4 frizzled class receptor 4
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HAND1 heart and neural crest derivatives expressed 1
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HOXB13 homeobox B13
HPN hepsin
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGF1R insulin-like growth factor 1 receptor
IGF2-AS IGF2 antisense RNA
IGF2R insulin-like growth factor 2 receptor
IGHE immunoglobulin heavy constant epsilon
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL32 interleukin 32
IL4 interleukin 4
IL4R interleukin 4 receptor
INHBA inhibin, beta A
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KERA keratocan
KIF1B kinesin family member 1B
KIF21A kinesin family member 21A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF6 Kruppel-like factor 6
KLK3 kallikrein-related peptidase 3
KLLN killin, p53-regulated DNA replication inhibitor
KMT2C lysine (K)-specific methyltransferase 2C
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT17 keratin 17, type I
L3MBTL1 l(3)mbt-like 1 (Drosophila)
LAMB3 laminin, beta 3
LEMD3 LEM domain containing 3
LGALS3 lectin, galactoside-binding, soluble, 3
LHX4 LIM homeobox 4
LMO2 LIM domain only 2 (rhombotin-like 1)
LUM lumican
LZTR1 leucine-zipper-like transcription regulator 1
LZTS1 leucine zipper, putative tumor suppressor 1
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MADD MAP-kinase activating death domain
MAGEA3 melanoma antigen family A3
MAGEA6 melanoma antigen family A6
MALT1 MALT1 paracaspase
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAX MYC associated factor X
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEN1 multiple endocrine neoplasia I
MET MET proto-oncogene, receptor tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MIR125A microRNA 125a
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MLH1 mutL homolog 1
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-TL1 tRNA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUC19 mucin 19, oligomeric
MUTYH mutY homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NBN nibrin
NCF4 neutrophil cytosolic factor 4, 40kDa
NF1 neurofibromin 1
NKAIN2 Na+/K+ transporting ATPase interacting 2
NKX2-5 NK2 homeobox 5
NKX3-1 NK3 homeobox 1
NLRP3 NLR family, pyrin domain containing 3
NLRP7 NLR family, pyrin domain containing 7
NOD2 nucleotide-binding oligomerization domain containing 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OGG1 8-oxoguanine DNA glycosylase
OPN3 opsin 3
PALB2 partner and localizer of BRCA2
PARK2 parkin RBR E3 ubiquitin protein ligase
PDCD10 programmed cell death 10
PDE11A phosphodiesterase 11A
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PDK2 pyruvate dehydrogenase kinase, isozyme 2
PEBP1 phosphatidylethanolamine binding protein 1
PHOX2B paired-like homeobox 2b
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLB polymerase (DNA directed), beta
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLE polymerase (DNA directed), epsilon, catalytic subunit
PPARG peroxisome proliferator-activated receptor gamma
PPP2R2A protein phosphatase 2, regulatory subunit B, alpha
PRF1 perforin 1 (pore forming protein)
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCSH protein kinase C substrate 80K-H
PRLR prolactin receptor
PSEN2 presenilin 2
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRD protein tyrosine phosphatase, receptor type, D
PTPRG protein tyrosine phosphatase, receptor type, G
PTTG1 pituitary tumor-transforming 1
RAD50 RAD50 homolog (S. cerevisiae)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAD51D RAD51 paralog D
RAD52 RAD52 homolog (S. cerevisiae)
RAD54L RAD54-like (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASAL1 RAS protein activator like 1 (GAP1 like)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RB1 retinoblastoma 1
RBL1 retinoblastoma-like 1
RET ret proto-oncogene
RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RNF31 ring finger protein 31
RP1 retinitis pigmentosa 1 (autosomal dominant)
RUNX1 runt-related transcription factor 1
RUNX3 runt-related transcription factor 3
RYR1 ryanodine receptor 1 (skeletal)
SBF2 SET binding factor 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC63 SEC63 homolog (S. cerevisiae)
SFTPA2 surfactant protein A2
SH2D1A SH2 domain containing 1A
SH3BP2 SH3-domain binding protein 2
SHH sonic hedgehog
SIAE sialic acid acetylesterase
SIPA1 signal-induced proliferation-associated 1
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SNAI1 snail family zinc finger 1
SOS1 son of sevenless homolog 1 (Drosophila)
SPI1 Spi-1 proto-oncogene
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
SUFU suppressor of fused homolog (Drosophila)
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
THRB thyroid hormone receptor, beta
TMEM127 transmembrane protein 127
TNC tenascin C
TP53 tumor protein p53
TP73 tumor protein p73
TPMT thiopurine S-methyltransferase
TRA T cell receptor alpha locus
TRAF3 TNF receptor-associated factor 3
TRB T cell receptor beta locus
TSC2 tuberous sclerosis 2
TSG101 tumor susceptibility 101
TSHR thyroid stimulating hormone receptor
TTF1 transcription termination factor, RNA polymerase I
TYMS thymidylate synthetase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIM vimentin
WNT5B wingless-type MMTV integration site family, member 5B
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XBP1 X-box binding protein 1
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
ZBTB16 zinc finger and BTB domain containing 16