abnormal leydig cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH); Leydig cells are polyhedral in shape, display a large prominent nucleus, an eosinophilic cytoplasm and numerous lipid-filled vesicles (Mammalian Phenotype Ontology, MP_0002786)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002786
Similar Terms
Downloads & Tools

Genes

62 gene mutations causing the abnormal leydig cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSBG1 acyl-CoA synthetase bubblegum family member 1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
AR androgen receptor
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
BCL2L2 BCL2-like 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDKRB2 bradykinin receptor B2
BGLAP bone gamma-carboxyglutamate (gla) protein
BMP8B bone morphogenetic protein 8b
CDK4 cyclin-dependent kinase 4
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CLCN2 chloride channel, voltage-sensitive 2
CNOT7 CCR4-NOT transcription complex, subunit 7
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DDX25 DEAD (Asp-Glu-Ala-Asp) box helicase 25
DHH desert hedgehog
E2F1 E2F transcription factor 1
E2F6 E2F transcription factor 6
EGR1 early growth response 1
EGR4 early growth response 4
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FANCG Fanconi anemia, complementation group G
FANCM Fanconi anemia, complementation group M
FGF9 fibroblast growth factor 9
GATA4 GATA binding protein 4
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
ING2 inhibitor of growth family, member 2
INS insulin
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
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
MAP7 microtubule-associated protein 7
MEN1 multiple endocrine neoplasia I
NHLH2 nescient helix loop helix 2
NKX2-1 NK2 homeobox 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PROKR2 prokineticin receptor 2
PTDSS2 phosphatidylserine synthase 2
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
SAFB scaffold attachment factor B
SGPL1 sphingosine-1-phosphate lyase 1
SH2B1 SH2B adaptor protein 1
SIRT1 sirtuin 1
SIX5 SIX homeobox 5
STAR steroidogenic acute regulatory protein
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
ZBTB16 zinc finger and BTB domain containing 16