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Gene id 6736
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol SRY   Gene   UCSC   Ensembl
Aliases SRXX1, SRXY1, TDF, TDY
Gene name sex determining region Y
Alternate names sex-determining region Y protein, essential protein for sex determination in human males, sex-determining region on Y, testis-determining factor on Y, truncated sex-determining region Y protein,
Gene location Yp11.2 (2787740: 2786854)     Exons: 1     NC_000024.10
Gene summary(Entrez) This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene g
OMIM 480000

Protein Summary
Protein general information Q05066  

Name: Sex determining region Y protein (Testis determining factor)

Length: 204  Mass: 23,884

Sequence MQSYASAMLSVFNSDDYSPAVQENIPALRRSSSFLCTESCNSKYQCETGENSKGNVQDRVKRPMNAFIVWSRDQR
RKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLPKNCSLLPADPA
SVLCSEVQLDNRLYRDDCTKATHSRMEHQLGHLPPINAASSPQQRDRYSHWTKL
Structural information
Interpro:  IPR009071  IPR036910  IPR017253  
Prosite:   PS50118

PDB:  		 1HRY 1HRZ 1J46 1J47 2GZK
PDBsum:   1HRY 1HRZ 1J46 1J47 2GZK
MINT:  
STRING:   ENSP00000372547
Other Databases GeneCards:  SRY  Malacards:  SRY

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological process
GO:0003677 DNA binding
 IDA molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:0003705 transcription factor acti
vity, RNA polymerase II d
istal enhancer sequence-s
pecific binding
 IDA molecular function
GO:0005516 calmodulin binding
 IEA molecular function
GO:0005634 nucleus
 NAS cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 NAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0008301 DNA binding, bending
 IEA molecular function
GO:0008584 male gonad development
 IEA biological process
GO:0016607 nuclear speck
 IEA cellular component
GO:0030154 cell differentiation
 IEA biological process
GO:0030238 male sex determination
 NAS biological process
GO:0044798 nuclear transcription fac
tor complex
 IEA cellular component
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0046982 protein heterodimerizatio
n activity
 IEA molecular function
GO:2000020 positive regulation of ma
le gonad development
 IDA biological process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological process
GO:0000981 RNA polymerase II transcr
iption factor activity, s
equence-specific DNA bind
ing
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IEA molecular function
GO:0003705 transcription factor acti
vity, RNA polymerase II d
istal enhancer sequence-s
pecific binding
 IDA molecular function
GO:0005516 calmodulin binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 NAS cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 NAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0007530 sex determination
 IEA biological process
GO:0007548 sex differentiation
 IEA biological process
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0008301 DNA binding, bending
 IEA molecular function
GO:0008584 male gonad development
 IEA biological process
GO:0010629 negative regulation of ge
ne expression
 IEA biological process
GO:0016607 nuclear speck
 IEA cellular component
GO:0030154 cell differentiation
 IEA biological process
GO:0030238 male sex determination
 IEA biological process
GO:0030238 male sex determination
 IEA biological process
GO:0030238 male sex determination
 NAS biological process
GO:0044798 nuclear transcription fac
tor complex
 IEA cellular component
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0046982 protein heterodimerizatio
n activity
 IEA molecular function
GO:2000020 positive regulation of ma
le gonad development
 IDA biological process
GO:0003677 DNA binding
 IDA molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:0003705 transcription factor acti
vity, RNA polymerase II d
istal enhancer sequence-s
pecific binding
 IDA molecular function
GO:0005634 nucleus
 NAS cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 NAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0030238 male sex determination
 NAS biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:2000020 positive regulation of ma
le gonad development
 IDA biological process

Diseases

Expand All | Collapse All
Associated diseases References
Hypospadias GAD: 15266301
45, X/46,X, psu dic(Y)(pter-->q11::q11-->pter) INFBASE: 12215836
46,XX disorder of sex development INFBASE: 24496683
Ullrich-Turner syndrome (UTS) INFBASE: 10843173
Swyer syndrome INFBASE: 18990383
XY sex-reversed female with pure gonadal dysgenesis INFBASE: 10852465
46,XY pure gonadal dysgenesis MIK: 8472885
46, XY sex reversal MIK: 18304538
Male sexual development MIK: 7726236
Oligoasthenozoospermia MIK: 17762975
Mixed 46,XY gonadal dysgenesis MIK: 22441105
Testicular dysgenesis syndrome (TDS) MIK: 20849656
Oligozoospermia MIK: 26638807
Turners syndrome MIK: 20699606
Sex reversal MIK: 23378127
46,XY disorder of sex development MIK: 21344134
46,XY sex reversal MIK: 16218050
Atypical XX male MIK: 18412126
Azoospermia MIK: 26638807
Congenital adrenal hyperplasia KEGG: H00216
Disorders of sexual development (DSD) MIK: 21048976
46,XX ovotesticular DSD MIK: 27260338
46,XY sex reversal MIK: 16218050
Atypical XX male MIK: 18412126
Azoospermia MIK: 30466086
Azoospermia, Oligozoospermia MIK: 26638807
Disorders of sexual development (DSD) MIK: 21048976
Male infertility MIK: 22494750
Azoospermia MIK: 17762975
Oligozoospermia MIK: 17762975
Oligoasthenozoospermia MIK: 17762975
Male sexual differentiation MIK: 7726236
Mixed 46,XY gonadal dysgenesis MIK: 22441105
Reproductive anomalies, MIK: 29373757
Sertoli cell differentiation and testis development MIK: 23034159
Sex reversal syndrome MIK: 23378127
Teratozoospermia MIK: 17327269
Pure gonadal dysgenesis MIK: 19531589
Testicular dysgenesis MIK: 19531589
Turners syndrome MIK: 20699606
Mixed gonadal dysgenesis (MGD) MIK: 20699606
Microphallus MIK: 30055081
Hypospadias MIK: 30055081
Bifid scrotum MIK: 30055081
Exstrophic perineal tissue identified as a rectal duplication MIK: 30055081
Lumbar vertebral anomalies MIK: 30055081
Scoliosis MIK: 30055081
Dysmorphic sacrum MIK: 30055081
Epispadias with the urethral meatus close to the penopubic junction MIK: 30055081

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16218050 46,XY sex
reversal
 three base pair deletion in one of the Sp1 binding sites in SRY promoter
1
 Male infertility
Show abstract
16218050 46,XY sex
reversal
17 patients wit
h variable degr
ees of 46,XY se
x reversal
 Male infertility
Show abstract
21048976 Disorders
of sexual
developmen
t (DSD)
9067 (116 with
idiopathic DSD,
8951 controls)
 Male infertility SRY
DMRT1
FGFR2
KANK1
ADCY2 and ZEB2
 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
20699606 Turners sy
ndrome, mi
xed gonada
l dysgenes
is (MGD)
27 (14 with TS
and 13 with mix
ed gonadal dysg
enesis (MGD))
 Male infertility, Female infertility
Show abstract
22441105 Mixed 46,X
Y gonadal
dysgenesis
1 46,XY gonadal
dysgenesis (GD
)
 Male infertility
Show abstract
23378127 Sex revers
al syndrom
e
11 males
 Male infertility
Show abstract
17762975 Male infer
tility, az
oospermia,
oligozoos
permia, ol
igoastheno
zoospermia

Male infertility AZFb
AZFc and SRY14
 Show abstract
7726236 Male sexua
l differen
tiation
 46,XX male Mexican
 1 46,XX male pa
tient without g
enital ambiguit
ies
 Male infertility SRY
 Show abstract
18412126 Atypical X
X male
 chromosome 1 and a 1qter microdeletion
1 46,XX karyoty
pe
 Male infertility SRY
 Show abstract
22494750 Male infer
tility

Male infertility SRY
 Show abstract
29373757 Reproducti
ve anomali
es, Male i
nfertility

Male infertility
Show abstract
30466086 Azoospermi
a
 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10)
1 patient with
Azoospermia
 Male infertility
Show abstract
23034159 Sertoli ce
ll differe
ntiation a
nd testis
developmen
t

Male infertility
Show abstract
30055081  microphal
lus, hypos
padias, bi
fid scrotu
m, exstrop
hic perine
al tissue
identified
as a rect
al duplica
tion, lumb
ar vertebr
al anomali
es, scolio
sis, and a
dysmorphi
c sacrum,
epispadias
with the
urethral m
eatus clos
e to the p
enopubic j
unction
 SRY deletion
3 cases
 Male infertility
Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
27260338 46,XX ovot
esticular
DSD
 SRY-negative
1 case
 Male infertility
Show abstract
19531589 Testicular
dysgenesi
s,XY sex r
eversal an
d pure gon
adal dysge
nesis
 Deletion (c.71delA)
3 (2 cases)
 Male infertility
Show abstract