small testis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Reduced volume of the testicle (the male gonad). (Human Phenotype Ontology, HP_0008734)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001147
Similar Terms
Downloads & Tools

Genes

364 gene mutations causing the small testis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACVR2A activin A receptor, type IIA
ADIPOR2 adiponectin receptor 2
ADRA1B adrenoceptor alpha 1B
AFF4 AF4/FMR2 family, member 4
AGO4 argonaute RISC catalytic component 4
AGPS alkylglycerone phosphate synthase
AGTPBP1 ATP/GTP binding protein 1
AHR aryl hydrocarbon receptor
AKAP9 A kinase (PRKA) anchor protein 9
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALKBH5 AlkB family member 5, RNA demethylase
AR androgen receptor
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL4A ADP-ribosylation factor-like 4A
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1
ATAT1 alpha tubulin acetyltransferase 1
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATR ATR serine/threonine kinase
BAX BCL2-associated X protein
BCL2L1 BCL2-like 1
BCL2L2 BCL2-like 2
BCO2 beta-carotene oxygenase 2
BGLAP bone gamma-carboxyglutamate (gla) protein
BMP4 bone morphogenetic protein 4
BMP8B bone morphogenetic protein 8b
BOLL boule-like RNA-binding protein
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
CADM1 cell adhesion molecule 1
CAMK4 calcium/calmodulin-dependent protein kinase IV
CBX3 chromobox homolog 3
CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough
CCNA1 cyclin A1
CCNB1IP1 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase
CCND2 cyclin D2
CCNE2 cyclin E2
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CENPB centromere protein B, 80kDa
CGA glycoprotein hormones, alpha polypeptide
CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
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
CNOT7 CCR4-NOT transcription complex, subunit 7
CPEB1 cytoplasmic polyadenylation element binding protein 1
CREM cAMP responsive element modulator
CRISP1 cysteine-rich secretory protein 1
CTCFL CCCTC-binding factor (zinc finger protein)-like
CTSV cathepsin V
CUL4A cullin 4A
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DAZ2 deleted in azoospermia 2
DAZAP1 DAZ associated protein 1
DDX25 DEAD (Asp-Glu-Ala-Asp) box helicase 25
DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4
DEDD death effector domain containing
DHCR24 24-dehydrocholesterol reductase
DHH desert hedgehog
DMC1 DNA meiotic recombinase 1
DMRT1 doublesex and mab-3 related transcription factor 1
DMRTC2 DMRT-like family C2
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1
DND1 DND microRNA-mediated repression inhibitor 1
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DPY19L2 dpy-19-like 2 (C. elegans)
DRD2 dopamine receptor D2
E2F1 E2F transcription factor 1
EBF2 early B-cell factor 2
EGR1 early growth response 1
EGR4 early growth response 4
EHD1 EH-domain containing 1
EHD4 EH-domain containing 4
EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa
EIF4G3 eukaryotic translation initiation factor 4 gamma, 3
ELOVL2 ELOVL fatty acid elongase 2
ENO4 enolase family member 4
EPB41L2 erythrocyte membrane protein band 4.1-like 2
ESR1 estrogen receptor 1
ETV5 ets variant 5
EWSR1 EWS RNA-binding protein 1
EXO1 exonuclease 1
FADS2 fatty acid desaturase 2
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCG Fanconi anemia, complementation group G
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGF9 fibroblast growth factor 9
FHL5 four and a half LIM domains 5
FKBP6 FK506 binding protein 6, 36kDa
FNDC3A fibronectin type III domain containing 3A
FOXC1 forkhead box C1
FOXP3 forkhead box P3
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FUS FUS RNA binding protein
FXR1 fragile X mental retardation, autosomal homolog 1
FYN FYN proto-oncogene, Src family tyrosine kinase
GAL galanin/GMAP prepropeptide
GAL3ST1 galactose-3-O-sulfotransferase 1
GBA2 glucosidase, beta (bile acid) 2
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GOLGA3 golgin A3
GPRC6A G protein-coupled receptor, class C, group 6, member A
GTF2A1 general transcription factor IIA, 1, 19/37kDa
GTF2I general transcription factor IIi
GTSF1 gametocyte specific factor 1
H2AFX H2A histone family, member X
HDAC2 histone deacetylase 2
HELQ helicase, POLQ-like
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIP1 huntingtin interacting protein 1
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HMOX1 heme oxygenase 1
HORMAD1 HORMA domain containing 1
HORMAD2 HORMA domain containing 2
HOXA10 homeobox A10
HOXA11 homeobox A11
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSF2 heat shock transcription factor 2
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA2 heat shock 70kDa protein 2
HSPA4 heat shock 70kDa protein 4
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
ING2 inhibitor of growth family, member 2
INHBA inhibin, beta A
INSL3 insulin-like 3 (Leydig cell)
INSL6 insulin-like 6
IP6K1 inositol hexakisphosphate kinase 1
JAM3 junctional adhesion molecule 3
JMJD1C jumonji domain containing 1C
KATNAL1 katanin p60 subunit A-like 1
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KDM3A lysine (K)-specific demethylase 3A
KIF18A kinesin family member 18A
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KL klotho
KLHL10 kelch-like family member 10
LAMA2 laminin, alpha 2
LEP leptin
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX3 LIM homeobox 3
LIMK2 LIM domain kinase 2
LIPE lipase, hormone-sensitive
LMNA lamin A/C
LMTK2 lemur tyrosine kinase 2
LOC101929327
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
M1AP meiosis 1 associated protein
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAEL maelstrom spermatogenic transposon silencer
MAN2A2 mannosidase, alpha, class 2A, member 2
MAP2 microtubule-associated protein 2
MAP7 microtubule-associated protein 7
MARK2 MAP/microtubule affinity-regulating kinase 2
MCM8 minichromosome maintenance complex component 8
MCM9 minichromosome maintenance complex component 9
MCPH1 microcephalin 1
MDC1 mediator of DNA-damage checkpoint 1
MEI1 meiosis inhibitor 1
MEI4 meiosis-specific 4 homolog (S. cerevisiae)
MEIOB meiosis specific with OB domains
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNS1 meiosis-specific nuclear structural 1
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)
NCOA1 nuclear receptor coactivator 1
NCOA2 nuclear receptor coactivator 2
NDC1 NDC1 transmembrane nucleoporin
NEK1 NIMA-related kinase 1
NHLH2 nescient helix loop helix 2
NKD1 naked cuticle homolog 1 (Drosophila)
NKX2-1 NK2 homeobox 1
NOS1 nitric oxide synthase 1 (neuronal)
NPEPPS aminopeptidase puromycin sensitive
NPHP1 nephronophthisis 1 (juvenile)
NPPC natriuretic peptide C
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR2C2 nuclear receptor subfamily 2, group C, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NXF2 nuclear RNA export factor 2
OCA2 oculocutaneous albinism II
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
OVOL1 ovo-like zinc finger 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
PANK2 pantothenate kinase 2
PAPOLB poly(A) polymerase beta (testis specific)
PARL presenilin associated, rhomboid-like
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX8 paired box 8
PCSK1 proprotein convertase subtilisin/kexin type 1
PCYT1B phosphate cytidylyltransferase 1, choline, beta
PDPK1 3-phosphoinositide dependent protein kinase 1
PEG3 paternally expressed 3
PEPD peptidase D
PEX7 peroxisomal biogenesis factor 7
PFDN5 prefoldin subunit 5
PHF13 PHD finger protein 13
PICK1 protein interacting with PRKCA 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
PIWIL4 piwi-like RNA-mediated gene silencing 4
PLD6 phospholipase D family, member 6
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PLK4 polo-like kinase 4
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
PORCN porcupine homolog (Drosophila)
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme
PRDM1 PR domain containing 1, with ZNF domain
PRDM9 PR domain containing 9
PRDX4 peroxiredoxin 4
PROKR2 prokineticin receptor 2
PSAP prosaposin
PSIP1 PC4 and SFRS1 interacting protein 1
PSMC3IP PSMC3 interacting protein
PTDSS2 phosphatidylserine synthase 2
PTH2 parathyroid hormone 2
PTP4A2 protein tyrosine phosphatase type IVA, member 2
PTTG1 pituitary tumor-transforming 1
PUM1 pumilio RNA-binding family member 1
PUM2 pumilio RNA-binding family member 2
RABL2A RAB, member of RAS oncogene family-like 2A
RAD18 RAD18 E3 ubiquitin protein ligase
RAD21L1 RAD21-like 1 (S. pombe)
RAD23B RAD23 homolog B (S. cerevisiae)
RAD51C RAD51 paralog C
RANBP9 RAN binding protein 9
REC8 REC8 meiotic recombination protein
RLN1 relaxin 1
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF17 ring finger protein 17
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
ROR2 receptor tyrosine kinase-like orphan receptor 2
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
SEPT12 septin 12
SGOL2 shugoshin-like 2 (S. pombe)
SGPL1 sphingosine-1-phosphate lyase 1
SH2B1 SH2B adaptor protein 1
SH2D3C SH2 domain containing 3C
SIAH1 siah E3 ubiquitin protein ligase 1
SIRT1 sirtuin 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
SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLX4 SLX4 structure-specific endonuclease subunit
SMAD1 SMAD family member 1
SMC1B structural maintenance of chromosomes 1B
SNAI2 snail family zinc finger 2
SNORD50A small nucleolar RNA, C/D box 50A
SNORD50B small nucleolar RNA, C/D box 50B
SNRPE small nuclear ribonucleoprotein polypeptide E
SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX8 SRY (sex determining region Y)-box 8
SP4 Sp4 transcription factor
SPAG16 sperm associated antigen 16
SPATA22 spermatogenesis associated 22
SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
SPO11 SPO11 meiotic protein covalently bound to DSB
STC2 stanniocalcin 2
STRBP spermatid perinuclear RNA binding protein
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STX2 syntaxin 2
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
SUN1 Sad1 and UNC84 domain containing 1
SYCE1 synaptonemal complex central element protein 1
SYCE2 synaptonemal complex central element protein 2
SYCE3 synaptonemal complex central element protein 3
SYCP1 synaptonemal complex protein 1
SYCP2 synaptonemal complex protein 2
SYCP3 synaptonemal complex protein 3
TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa
TASP1 taspase, threonine aspartase, 1
TBC1D20 TBC1 domain family, member 20
TBPL1 TBP-like 1
TCTE3 t-complex-associated-testis-expressed 3
TDRD1 tudor domain containing 1
TDRD5 tudor domain containing 5
TDRD6 tudor domain containing 6
TDRD7 tudor domain containing 7
TDRD9 tudor domain containing 9
TDRKH tudor and KH domain containing
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TEX14 testis expressed 14
TEX15 testis expressed 15
TGFB2 transforming growth factor, beta 2
THEG theg spermatid protein
TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TKT transketolase
TMF1 TATA element modulatory factor 1
TNF tumor necrosis factor
TP53 tumor protein p53
TPST2 tyrosylprotein sulfotransferase 2
TRIP13 thyroid hormone receptor interactor 13
UBB ubiquitin B
UBE2B ubiquitin-conjugating enzyme E2B
UBE3A ubiquitin protein ligase E3A
UBR2 ubiquitin protein ligase E3 component n-recognin 2
USP1 ubiquitin specific peptidase 1
UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
VGF VGF nerve growth factor inducible
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
WDR48 WD repeat domain 48
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
YBX2 Y box binding protein 2
YBX3 Y box binding protein 3
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1
ZFP42 ZFP42 zinc finger protein
ZGLP1 zinc finger, GATA-like protein 1
ZNF148 zinc finger protein 148
ZNF274 zinc finger protein 274
ZNF384 zinc finger protein 384