absent gametes Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote (Mammalian Phenotype Ontology, MP_0001117)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001117
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Genes

150 gene mutations causing the absent gametes phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR2A activin A receptor, type IIA
ADRM1 adhesion regulating molecule 1
AFF4 AF4/FMR2 family, member 4
AGPS alkylglycerone phosphate synthase
AGTPBP1 ATP/GTP binding protein 1
AK7 adenylate kinase 7
AKAP9 A kinase (PRKA) anchor protein 9
APAF1 apoptotic peptidase activating factor 1
AR androgen receptor
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BOLL boule-like RNA-binding protein
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BSG basigin (Ok blood group)
CCDC79 coiled-coil domain containing 79
CCNB1IP1 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CIB1 calcium and integrin binding 1 (calmyrin)
CKS2 CDC28 protein kinase regulatory subunit 2
CLCN2 chloride channel, voltage-sensitive 2
CLDN11 claudin 11
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNBD2 cyclic nucleotide binding domain containing 2
CUL4A cullin 4A
DHH desert hedgehog
DMC1 DNA meiotic recombinase 1
DMRTC2 DMRT-like family C2
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
EHD1 EH-domain containing 1
EIF4G3 eukaryotic translation initiation factor 4 gamma, 3
ETV5 ets variant 5
FADS2 fatty acid desaturase 2
FANCM Fanconi anemia, complementation group M
FKBP6 FK506 binding protein 6, 36kDa
FOXP3 forkhead box P3
FSHR follicle stimulating hormone receptor
GAL3ST1 galactose-3-O-sulfotransferase 1
GJA1 gap junction protein, alpha 1, 43kDa
GNPAT glyceronephosphate O-acyltransferase
GOLGA3 golgin A3
GTF2A1 general transcription factor IIA, 1, 19/37kDa
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HORMAD1 HORMA domain containing 1
HORMAD2 HORMA domain containing 2
HOXA10 homeobox A10
HOXA11 homeobox A11
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INSL6 insulin-like 6
IP6K1 inositol hexakisphosphate kinase 1
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KL klotho
LHB luteinizing hormone beta polypeptide
LHX3 LIM homeobox 3
LIPE lipase, hormone-sensitive
LMNA lamin A/C
LMTK2 lemur tyrosine kinase 2
LOC101929327
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAP2 microtubule-associated protein 2
MCM8 minichromosome maintenance complex component 8
MEI1 meiosis inhibitor 1
MEI4 meiosis-specific 4 homolog (S. cerevisiae)
MEIG1 meiosis/spermiogenesis associated 1
MEIOB meiosis specific with OB domains
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MORC1 MORC family CW-type zinc finger 1
MOV10L1 Mov10 RISC complex RNA helicase like 1
MSH4 mutS homolog 4
MSH5 mutS homolog 5
MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1
NANOS2 nanos homolog 2 (Drosophila)
NANOS3 nanos homolog 3 (Drosophila)
NBN nibrin
NHLH2 nescient helix loop helix 2
NME5 NME/NM23 family member 5
NOBOX NOBOX oogenesis homeobox
NUP210L nucleoporin 210kDa-like
NUPR1 nuclear protein, transcriptional regulator, 1
P2RX1 purinergic receptor P2X, ligand gated ion channel, 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PANK2 pantothenate kinase 2
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PIWIL1 piwi-like RNA-mediated gene silencing 1
PIWIL2 piwi-like RNA-mediated gene silencing 2
PLD6 phospholipase D family, member 6
POLG polymerase (DNA directed), gamma
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme
PRDM1 PR domain containing 1, with ZNF domain
PRDM9 PR domain containing 9
PROKR2 prokineticin receptor 2
PSMC3IP PSMC3 interacting protein
RAD21L1 RAD21-like 1 (S. pombe)
RANBP1 RAN binding protein 1
RANBP9 RAN binding protein 9
RBM5 RNA binding motif protein 5
REC8 REC8 meiotic recombination protein
RNF17 ring finger protein 17
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RXFP1 relaxin/insulin-like family peptide receptor 1
RXFP2 relaxin/insulin-like family peptide receptor 2
SAFB scaffold attachment factor B
SBF1 SET binding factor 1
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SIAH1 siah E3 ubiquitin protein ligase 1
SIX5 SIX homeobox 5
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLX4 SLX4 structure-specific endonuclease subunit
SMC1B structural maintenance of chromosomes 1B
SPATA22 spermatogenesis associated 22
SPO11 SPO11 meiotic protein covalently bound to DSB
STAG3 stromal antigen 3
STRA8 stimulated by retinoic acid 8
STX2 syntaxin 2
SUN1 Sad1 and UNC84 domain containing 1
SYCE1 synaptonemal complex central element protein 1
SYCE3 synaptonemal complex central element protein 3
SYCP1 synaptonemal complex protein 1
SYCP2 synaptonemal complex protein 2
SYCP3 synaptonemal complex protein 3
TASP1 taspase, threonine aspartase, 1
TBPL1 TBP-like 1
TDRD1 tudor domain containing 1
TDRD6 tudor domain containing 6
TDRD9 tudor domain containing 9
TDRKH tudor and KH domain containing
THEG theg spermatid protein
TPST2 tyrosylprotein sulfotransferase 2
TSC22D3 TSC22 domain family, member 3
UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
VRK1 vaccinia related kinase 1
WT1 Wilms tumor 1
YBX2 Y box binding protein 2
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1