Gene LocusID Title GO molecular processes Map #PFAM motif GO Biological process accession

intron or no

GO Cellular compartment Phenotype
ANAPC1 64682;285069 gene ANAPC1 encoding anaphase-promoting complex 1 (meiotic checkpoint regulator).     1        
ank.12/ ank.13 57730 gene ank.12/ ank.13 encoding KIAA1641 protein. ankyrin   1        
ArfGap.8/ glamu 255326 gene ArfGap.8 (and glamu) encoding hypothetical protein LOC255326. DNA binding   3     nucleus  
CAPRI 10156;246721 gene CAPRI encoding Ca2+-promoted Ras inactivator. DNA binding activity; GTPase activator activity;   5 intracellular signaling cascade; transcription regulation      
CES1/ CESR 1066;51716 gene CES1 and CESR, encoding carboxylesterase 1 (monocyte/macrophage serine esterase 1). serine esterase activity; hydrolase activity   1 embryogenesis and morphogenesis; metabolism; response to toxin; xenobiotic metabolism   endoplasmic reticulum; extracellular space  
CLN3 1201 gene CLN3 encoding ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease). chaperone activity   1 protein folding   mitochondrion; membrane [OMIM 204200] Ceroid, lipofuscinosis, neuronal, 3, juvenile
CPEB1 64506;

338963;6218

gene CPEB1 encoding cytoplasmic polyadenylation element binding protein 1. nucleic acid binding activity   1 protein biosynthesis   intracellular; ribosome  
CSAGE 9598;158511 gene CSAGE encoding taxol resistance associated gene 3.              
dara/ spyspee/ terswee 283768 gene dara, spyspee or terswee encoding hypothetical protein DKFZp434P162.              
DAZ.1/ DAZ3 1617;57055;

57054;57135

gene DAZ.1 encoding deleted in azoospermia; DAZ3 deleted in azoospermia 3. RNA binding activity;nucleic acid binding activity   1 fertilization (sensu Animalia); spermatogenesis      
DDX41 51428 gene DDX41 encoding DEAD (Asp-Glu-Ala-Asp) box polypeptide 41. RNA binding activity; ATP dependent helicase activity   3 apoptosis; development; RNA processing   nucleus  
deerubu/ rumeybu 343070 gene deerubu or rumeybu, encoding hypothetical protein LOC343070.              
DEFA1 1667;1668 gene DEFA1 encoding defensin, alpha 1, myeloid-related sequence. antifungal peptide activity   2 defense response; xenobiotic metabolism   extracellular  
DMRTC1 63947;203429 gene DMRTC1 encoding DMRT-like family C1.              
EIF3S8 8663 gene EIF3S8 encoding eukaryotic translation initiation factor 3, subunit 8, 110kDa. translation initiation factor activity   2 regulation of translational initiation   eukaryotic translation initiation factor 3 complex  
ENIGMA/ LIM.4 9260 gene ENIGMA encoding enigma (LIM domain protein).     2 intracellular signaling cascade; receptor mediated endocytosis      
FKBP6 / FKBP6.1/ FKBP6.2 / FKBP6.3

 

8468; 54441 gene FKBP6 or .1,.2,.3, encoding FK506 binding protein 6, 36kDa. FK506 binding activity; zinc ion binding   1 to 3 protein folding   intracellular  
Gaa1.0 96626;339692 gene Gaa1.0 encoding pinch-2.     2        
GAGE1 2543;2574;2575;

2576;2577;2578;

2579;26748;

26749;89801

gene GAGE1 encoding G antigen 1.     2 cellular defense response      
GAGED2/ GAGED2.1 9503 gene GAGED2 or GAGED2.1, encoding G antigen, family D, 2.     1        
GAGED3 / GAGED3.1 9502 gene GAGED3 or GAGED3.1, encoding G antigen, family D, 3.     1        
geefor 55747 gene geefor encoding hypothetical protein FLJ10824.              
GOLGIN-67 23015 gene GOLGIN-67 encoding golgin-67.           Golgi apparatus  
GSTT2/ DDT 2953 gene GSTT2 encoding glutathione S-transferase theta 2.     2        
GTF2H2/ GTF2H2.1 2966 gene GTF2H2.1 encoding general transcription factor IIH, polypeptide 2, 44kDa.     1 DNA repair; regulation of transcription, DNA-dependent   nucleus  
GTF2I/ GTF2I.1 2969;2970 gene GTF2I encoding general transcription factor II, i. protein binding activity; transcription factor activity   1 regulation of transcription initiation from Pol II promoter, DNA-dependent; signal transduction   nucleus  
GTF2IRD2/ GTF2I.4 54441;84163 gene GTF2IRD2 encoding DKFZp434A0131 protein./ gene GTF2I.4 encoding transcription factor GTF2IRD2.     3/2        
HEAT.2/ HEAT.4 84500 gene HEAT.2 or HEAT.4, encoding KIAA1833 protein.     1        
heyu 374676 gene heyu encoding similar to golgi autoantigen, golgin subfamily a, 2; SY11 protein.              
HIST2H4 8370 gene HIST2H4 encoding histone 2, H4. DNA binding   1        
HSFY 55410;86614;

159119;83869

gene HSFY encoding chromosome Y open reading frame 14. transcription factor activity   1 regulation of transcription, DNA-dependent   nucleus  
HSGP25L2G 54732 gene HSGP25L2G encoding gp25L2 protein. protein carrier activity   1 intracellular protein transport   membrane  
IRS.4 79930 gene IRS.4 encoding Dok-like protein. insulin receptor binding   2        
joyplaw 57234 gene joyplaw encoding KIAA0493 protein.              
kerira/ niho 54540 gene kerira or niho, encoding hypothetical protein FLJ10404.              
koby 255313 gene koby encoding hypothetical protein LOC255313.              
koharu 159110 gene koharu encoding hypothetical protein LOC159110.              
korva / koyva/ swoydoy 158852 gene korva or koyva or swoydoy, encoding hypothetical protein MGC27005.              
LAT1-3TM 81893 gene LAT1-3TM encoding LAT1-3TM protein. transcription regulator activity   2        
LGALS7 3963 genes LGALS7 encoding lectin, galactoside-binding, soluble, 7 (galectin 7). lectin;sugar binding activity   1 heterophilic cell adhesion; cell growth and/or maintenance   extracellular space  
LW-1 51402 gene LW-1 encoding LW-1. transcription factor activity   1 regulation of transcription, DNA-dependent   nucleus  
MAGE.2 81557 gene MAGE.2 encoding melanoma antigen, family D, 4.     1        
MAGEA2 9598;266740;

4101;4111

gene MAGEA2 encoding taxol resistance associated gene 3.     1 drug resistance      
MAGEA2b 266740;

4101;4105

gene MAGEA2b encoding melanoma antigen, family A, 2, copy b.     1        
MAGEA9 4108 gene MAGEA9 encoding melanoma antigen, family A, 9.     1        
MAGED4 81557 gene MAGED4 encoding melanoma antigen, family D, 4.     1        
MORN.6 222967;285927 gene MORN.6 encoding hypothetical protein LOC222967.     1        
mowaro 84771;348448;

349338;349410

gene mowaro encoding hypothetical protein MGC13005.              
MRC1 4360 gene MRC1 encoding mannose receptor, C type 1. sugar binding activity; mannose binding activity; calcium ion binding activity; receptor activity   3 heterophilic cell adhesion; pinocytosis; receptor mediated endocytosis   integral to plasma membrane  
nawfu 252946 gene nawfu encoding chromosome Y open reading frame 16.              
NBR2.1/ arf.11 51326;10230 gene NBR2.1 encoding ARF protein./gene arf.11 encoding ARF protein.     1        
novar 51402 gene novar encoding LW-1. transcription factor activity   1 regulation of transcription, DNA-dependent   nucleus  
NXF2/ NXF2.1 56001 gene NXF2 or NXF2.1 encoding nuclear RNA export factor 2. protein transporter activity; RNA binding activity   4 protein-nucleus import; mRNA processing; mRNA-nucleus export;   intracellular; nuclear RNA export factor complex; nucleus  
PEPP-2 84528 gene PEPP-2 encoding PEPP subfamily gene 2. transcription factor activity   1 regulation of transcription, DNA-dependent   nucleus  
PLGL.1 112597;5342 gene PLGL.1 encoding hypothetical protein MGC4677. plasmin activity   3        
PM5 / Cna_B.0 283820;23420 gene PM5 (or Cna_B.0) encoding hypothetical protein LOC283820.     1        
PRO0659/ hiri 29057 gene PRO0659 (or hiri), encoding PRO0659 protein.              
RANBP2L1/ RANBP2L1.1/ RANBP2L1.2 84220 gene RANBP2L1 encoding RAN binding protein 2-like 1. RAN protein binding activity   1 or 3        
RBMY1A1.2/ RBMY1A1.3 5940; 159163 gene RBMY1A1.2/3 encoding RNA binding motif protein, Y-linked, family 1, member A1. RNA binding activity   1 RNA processing; spermatogenesis   nucleus  
resa 339091 gene resa encoding hypothetical protein LOC339091.              
reyara 151009 gene reyara encoding hypothetical protein FLJ38359.              
risi/ rusi 80154 gene risi or rusi, encoding hypothetical protein FLJ22795.              
RPS17 6218 gene RPS17 encoding ribosomal protein S17. RNA binding activity   1 protein biosynthesis; cytosolic small ribosomal subunit (sensu Eukarya)   intracellular; ribosome; cytosolic small ribosomal subunit (sensu Eukarya)  
SCP.0/ SCP.7 283971;348174 gene SCP.0 or 7, encoding hypothetical protein MGC34761. sugar binding   4     extracellular  
SERF1A.1 8293;6606;6607 gene SERF1A.1 encoding small EDRK-rich factor 1A (telomeric).     2        
SFTPA1/ SFTPA1.1 6435 gene SFTPA1 encoding surfactant, pulmonary-associated protein A1. sugar binding   2     extracellular space  
shardawbu/ shodawbu 150527 gene shardawbu or shodawbu encoding hypothetical protein LOC150527.              
skerzar 80154 gene skerzar encoding hypothetical protein FLJ22795.              
skeyplar 84771;348448;

349410

gene skeyplar encoding hypothetical protein MGC13005.              
SMN1 6606 gene SMN1 encoding survival of motor neuron 1, telomeric.     1       [OMIM 158590] Spinal muscular atrophy, 4
SMN2 6606;6607 gene SMN2 encoding survival of motor neuron 2.     1        
SMP1/ UPF0220.0 23585 gene SMP1 or UPF0220.0, encoding small membrane protein 1.     1     integral to membrane  
sneera/ storar 348162 gene sneera or storar encoding hypothetical protein MGC9515.              
SSX1 6756;6759 gene SSX1 encoding synovial sarcoma, X breakpoint 1. nucleic acid binding activity; transcription co-repressor activity   1 regulation of transcription, DNA-dependent; cell growth and/or maintenance   intracellular/ nucleus [OMIM 300326] Sarcoma, synovial
SSX2 6757 gene SSX2 encoding synovial sarcoma, X breakpoint 2. nucleic acid binding   1 regulation of transcription, DNA-dependent   intracellular [OMIM 300192] Sarcoma, synovial
SSX4 6759 gene SSX4 encoding synovial sarcoma, X breakpoint 4. nucleic acid binding   1 regulation of transcription, DNA-dependent   intracellular  
steeju 24150 gene steeju encoding TP53TG3 protein.              
stovy 340618 gene stovy encoding hypothetical protein LOC340618.              
STRC 161497 gene STRC encoding stereocilin.             [OMIM 603720] Deafness, autosomal recessive 16
SULT1A3 79008;6818 gene SULT1A3 encoding hypothetical protein MGC5178. aryl sulfotransferase activity; transferase activity   2 steroid metabolism; synaptic transmission   cytoplasm  
TBC1D3 339284;84218 gene TBC1D3 encoding hypothetical protein FLJ11822. membrane alanyl aminopeptidase activity   2 proteolysis and peptidolysis      
THOC3 84321 gene THOC3 encoding THO complex 3. RNA binding activity   1 mRNA-nucleus export; nuclear mRNA splicing, via spliceosome; transport   nucleus  
titori 55911 gene titori encoding apolipoprotein B48 receptor.              
TTTY8 84673 gene TTTY8 encoding testis-specific transcript, Y-linked 8.              
VCY 9084 gene VCY encoding variable charge, Y-linked.              
waneri 9677 gene waneri encoding KIAA0377 gene product.     1        
WBSCR16 81554 gene WBSCR16 encoding Williams-Beuren syndrome chromosome region 16.     1        
Y_phosphatase.7/ kloraby 26095 gene Y_phosphatase.7 or kloraby, encoding DKFZP566K0524 protein. protein tyrosine phosphatase activity   1 protein amino acid dephosphorylation      

 

Genes repeated in the pseudo-autosomal region: (none has been associated to a phenotype in OMIM as of december 03)

Gene LocusID Title GO molecular processes Map #PFAM motif GO Biological process accession

intron or no

GO Cellular compartment
ALTE 9189;207063 gene ALTE encoding Ac-like transposable element. transposase activity; DNA binding activity; oxidoreductase activity XY 3 metabolism   nuclear chromosome
ASMT 438;8227 gene ASMT encoding acetylserotonin O-methyltransferase. neuropeptide hormone activity; acetylserotonin O-methyltransferase activity XY 1 B-cell activation; melatonin biosynthesis; regulation of transcription, DNA-dependent; signal transduction; rhythmic behavior; protein biosynthesis   membrane  
ASMTL 8623 gene ASMTL encoding acetylserotonin O-methyltransferase-like. acetylserotonin O-methyltransferase activity XY 2 melatonin biosynthesis      
CD99 4267 gene CD99 encoding CD99 antigen. cell adhesion molecule activity XY   cell adhesion   proteoglycan integral to plasma membrane
ELK4 2005;80306 gene ELK4 encoding ETS-domain protein (SRF accessory protein 1). transcription cofactor activity; protein binding activity XY 1 regulation of transcription, DNA-dependent, from Pol II promoter   nucleus
IL3RA / IL3RA.1 3563 gene IL3RA encoding interleukin 3 receptor, alpha (low affinity). interleukin-3 receptor activity; receptor signaling protein activity; hematopoietin/interferon-class (D200-domain) cytokine receptor activity XY   development; protein amino acid phosphorylation   integral to membrane
IL9R/ IL9R.1 3581;349410 gene IL9R encoding interleukin 9 receptor.   XY          
mura/ muru 55344 gene mura or muru, encoding hypothetical protein FLJ11323. phospholipase C activity XY   intracellular signaling cascade    
P2RY8 286530 gene P2RY8 encoding purinergic receptor P2Y, G-protein coupled, 8. rhodopsin-like receptor activity; purinergic nucleotide receptor activity, G-protein coupled XY 1 G-protein coupled receptor protein signaling pathway   integral to membrane
PR48 28227 gene PR48 encoding protein phosphatase 2A 48 kDa regulatory subunit. protein phosphatase type 2A, regulator activity;calcium ion binding activity XY   cell cycle arrest; DNA replication initiation   nucleus
SLC25A6 293 gene SLC25A6 encoding solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6. binding activity; transporter activity XY 1 mitochondrial transport;  ATP/ADP exchange;   integral to mitochondrial inner membrane; pre-sequence translocase complex
SPRY3/ SPRY3.1 10251 gene SPRY3 or SPRY3.1, encoding sprouty homolog 3 (Drosophila).   XY 1 development   membrane
SYBL1/ SYBL1.1 6845 gene SYBL1 encoding synaptobrevin-like 1.   XY 1      
TXNRD1 7296 gene TXNRD1 encoding thioredoxin reductase 1. thioredoxin reductase (NADPH) activity; disulfide oxidoreductase activity; metal ion binding activity; electron transporter activity XY 3 electron transport; signal transduction   cytoplasm