|
Gene id |
9083 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
BPY2 Gene UCSC Ensembl |
|
Aliases |
BPY2A, VCY2, VCY2A |
|
Gene name |
basic charge, Y-linked, 2 |
|
Alternate names |
testis-specific basic protein Y 2, basic protein on Y chromosome 2, testis-specific basic protein on Y, 2, variable charge, Y-linked, 2, variably charged protein Y 2, |
|
Gene location |
Yq11.223 (22984262: 23005464) Exons: 9 NC_000024.10
|
|
Gene summary(Entrez) |
This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nea
|
|
OMIM |
400013 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Azoospermia | MIK: 26638807 |
| Maturation arrest | MIK: 12724276 |
| Male factor infertility | MIK: 11097430 |
| Sertoli cell only syndrome (SCOS) | MIK: 17511727 |
| Oligozoospermia | MIK: 26638807 |
| Spermatogenesis defects | MIK: 19088127 |
| Spermatogenesis defects | MIK: 24935076 |
| Maturation arrest | MIK: 12724276 |
| Hypospermatogenesis | MIK: 12724276 |
| Azoospermia | MIK: 18043844 |
| Oligozoospermia | MIK: 26638807 |
| Spermatogenic defects | MIK: 24935076 |
| Male infertility | MIK: 11097430 |
| Hypospermatogenesis | MIK: 12724276 |
| Sertoli cell-only (SCO) syndrome | MIK: 17511727 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19088127 |
Spermatoge
netic defe
cts
|
gr/gr deletion, the b2/b3 deletion |
Han Chi
nese
|
1147 (756 idiop
athic infertile
Han-Chinese, 3
91 healthy Han-
Chinese)
|
Male infertility |
|
Show abstract |
| 26638807 |
Azoospermi
a, Oligozo
ospermia
|
SRY, DAZ and BPY2 genes showed copy number variation |
Indian
|
172 (34 azoospe
rmic (AZ), 43 o
ligospermic (OS
), and 40 infer
tile males with
normal spermio
gram (INS) toge
ther with 55 no
rmal fertile ma
les)
|
Male infertility |
SRY
DAZ
DYZ1 and BPY2
|
Show abstract |
| 24935076 |
Azoospermi
a, spermat
ogenic imp
airment
|
b2/b3 partial deletion (including both deletion-only and deletion-duplication), AZFc deletions |
Han Chi
nese
|
1435 (654 idiop
athic infertile
men, 781 healt
hy controls)
|
Male infertility |
DAZ
BPY2
|
Show abstract |
| 18043844 |
Azoospermi
a, Oligosp
ermia
|
AZFa, AZFb, AZFc deletions |
|
30 infertile me
n (17 were azoo
spermic, 13 wer
e severely olig
ospermic)
|
Male infertility |
DBY
sY84
RBM1
sY127
BPY2
sY254
|
Show abstract |
| 17511727 |
Sertoli ce
ll-only (S
CO) syndro
me
|
Alu sequences |
|
232 (106 infert
ile patients wi
th a Sertoli ce
ll-only (SCO) p
henotype, 126 f
ertile men)
|
Male infertility |
|
Show abstract |
| 12724276 |
Maturation
arrest, h
ypospermat
ogenesis,
male infer
tility
|
|
|
|
Male infertility |
|
Show abstract |
| 11097430 |
Male infer
tility
|
|
|
|
Male infertility |
BPY2
PRY
TTY1
TTY2
and VCY
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|