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Gene id 5620
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol PRM2   Gene   UCSC   Ensembl
Aliases CT94.2
Gene name protamine 2
Alternate names protamine-2, cancer/testis antigen family 94, member 2, sperm histone P2, sperm protamine P2, testicular secretory protein Li 40,
Gene location 16p13.13 (11276479: 11275638)     Exons: 2     NC_000016.10
Gene summary(Entrez) Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a v
OMIM 182890

SNPs
rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

Protein Summary
Protein general information P04554  

Name: Protamine 2 (Sperm histone P2) (Sperm protamine P2) [Cleaved into: Basic nuclear protein HPI1; Basic nuclear protein HPI2; Basic nuclear protein HPS1; Basic nuclear protein HPS2; Sperm histone HP4 (Sperm protamine P4); Sperm histone HP2 (Sperm protamine P

Length: 102  Mass: 13051

Tissue specificity: Testis.

Sequence MVRYRVRSLSERSHEVYRQQLHGQEQGHHGQEEQGLSPEHVEVYERTHGQSHYRRRHCSRRRLHRIHRRQHRSCR
RRKRRSCRHRRRHRRGCRTRKRTCRRH
Structural information
Interpro:  IPR000492  

PDB:  		 2AWR
PDBsum:   2AWR
STRING:   ENSP00000403681
Other Databases GeneCards:  PRM2  Malacards:  PRM2

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000786 nucleosome
 IEA cellular component
GO:0003677 DNA binding
 IEA molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0006323 DNA packaging
 TAS biological process
GO:0006997 nucleus organization
 IBA biological process
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007286 spermatid development
 IBA biological process
GO:0030261 chromosome condensation
 IBA biological process
GO:0000786 nucleosome
 IEA cellular component
GO:0000786 nucleosome
 IEA cellular component
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005694 chromosome
 IEA cellular component
GO:0005694 chromosome
 IEA cellular component
GO:0006323 DNA packaging
 TAS biological process
GO:0006997 nucleus organization
 IBA biological process
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0007283 spermatogenesis
 IEA biological process
GO:0007283 spermatogenesis
 IEA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007286 spermatid development
 IBA biological process
GO:0030154 cell differentiation
 IEA biological process
GO:0030261 chromosome condensation
 IBA biological process
GO:0030261 chromosome condensation
 IEA biological process
GO:0003677 DNA binding
 TAS molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0006323 DNA packaging
 TAS biological process
GO:0006997 nucleus organization
 IBA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007286 spermatid development
 IBA biological process
GO:0030261 chromosome condensation
 IBA biological process
GO:0007286 spermatid development
 IBA biological process
GO:0005634 nucleus
 IBA cellular component
GO:0006997 nucleus organization
 IBA biological process
GO:0007283 spermatogenesis
 ISS biological process
GO:0006323 DNA packaging
 IEA biological process
GO:0007286 spermatid development
 IEA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0030154 cell differentiation
 IEA biological process
GO:0000786 nucleosome
 IEA cellular component
GO:0030261 chromosome condensation
 IEA biological process
GO:0007283 spermatogenesis
 IEA biological process
GO:0005694 chromosome
 IEA cellular component
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0005654 nucleoplasm
 TAS cellular component
GO:0006323 DNA packaging
 TAS biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005694 chromosome
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0008270 zinc ion binding
 IDA molecular function
GO:0046870 cadmium ion binding
 IDA molecular function
GO:0005634 nucleus
 HDA cellular component

Diseases

Expand All | Collapse All
Associated diseases References
Asthenozoospermia MIK: 18292846
Poor fertilizing capacity, abnormalities of spermiogenesis MIK: 11451357
Teratozoospermia MIK: 25536093
Male factor infertility MIK: 16989827
Sperm motility MIK: 26392304
Cryptozoospermia MIK: 22104739
Spermatogenesis defects MIK: 19602509
Oligozoospermia MIK: 12721220
Non obstructive azoospermia MIK: 16138578
Azoospermia GAD: 20378615
Associated with decreased sperm motility MIK: 26392304
Male infertility MIK: 26392304
Associated with delayed spermatogenesis MIK: 14680821
Associated with spermatogenesis and epigenetic regulation MIK: 21674046
Asthenozoospermia MIK: 18292846
Hypospermatogenesis MIK: 28361989
Male infertility MIK: 10932193
Cryptozoospermia MIK: 22104739
Teratozoospermia MIK: 25536093
Non obstructive azoospermia MIK: 24012201
Sertoli cell only syndrome MIK: 23869807
Non-obstructive azoospermia (NOA) MIK: 16138578
Obstructive azoospermia (OA) MIK: 16138578
Oligozoospermia MIK: 21989496
Poor fertilizing capacity, abnormalities of spermiogenesis MIK: 11451357
Spermatogenic defects MIK: 19602509

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12721220 Oligozoosp
ermic, ast
henospermi
c, Male in
fertility
35 (10 men of p
roven fertility
, 12 oligozoosp
ermic men, and
13 asthenozoosp
ermic men)
 Male infertility
Show abstract
16989827 Male infer
tility
288 (96 fertile
men, 96 severe
ly infertile me
n, and 96 infer
tility patients
)
 Male infertility
Show abstract
18003625 Male infer
tility
196 ((TB; 74 in
fertile men ver
sus 17 controls
), ejaculates (
E; 95 infertile
men versus 10
controls))
 Male infertility
Show abstract
15705617 Male infer
tility
359 (272 infert
ility patients,
87 fertile don
ors)
 Male infertility protamine-1
protamine-2
 Show abstract
11451357 Poor ferti
lizing cap
acity, abn
ormalities
of spermi
ogenesis
125 (75 patient
s undergoing in
vitro fertiliz
ation (IVF), 50
donors of know
n fertility)
 Male infertility
Show abstract
26392304 Sperm moti
lity
134 (70 men wit
h idiopathic in
fertility, 64 f
ertile men)
 Male infertility
Show abstract
18292846 Asthenozoo
spermic
170 (70 normozo
ospermic, 100 a
sthenozoospermi
c)
 Male infertility PRM1
PRM2
 Show abstract
16138578 Non-obstru
ctive azoo
spermia (N
OA), obstr
uctive azo
ospermia (
OA)
38 cases of azo
ospermia at the
mean age of 32
.4 (ranging 24
- 42) years wer
e divided into
a nonobstructiv
e (NOA) group,o
bstructive (OA)
group
 Male infertility
Show abstract
25536093 Male infer
tility, te
ratozoospe
rmic
138 (72 teratoz
oospermia, 66 n
ormozoospermic)
 Male infertility PRM1
PRM2
and TNP2 
 Show abstract
26472740 Male infer
tility
 rs35576928, rs737008, rs35262993, rs2301365, rs1646022, rs2070923
13517 (7350 cas
es, 6167 contro
ls)
 Male infertility protamine 1
protamine 2
 Show abstract
22104739 Male infer
tility, te
ratozoospe
rmia, azo
ospermia,
cryptozoos
permia
 PRM1 (G54A, G102T, C230A), PRM2 (C246T, G288C, G298C, C373A)
163 (53 normozo
ospermic, 60 te
ratozoospermic,
50 azoospermic
)
 Male infertility PRM2
 Show abstract
21425891 Male infer
tility
 PRM2 (c.443C?>?A), TNP1 ((c.396_397InsT) at the 3' UTR)
200 (100 oligoz
oospermic infer
tile men, 100 f
ertile controls
)
 Male infertility PRM2
 Show abstract
19863670 Male infer
tility
 c.54G>A, c.102G>T, c.230A>C Caucasi
an
 248 (88 patient
s with idiopath
ic teratozoospe
rmia, 83 normal
or reduced spe
rm concentratio
n, 77 men with
a high percent
age of normal s
perm morphology
and normal con
centrations)
 Male infertility PRM1
PRM2
 Show abstract
19602509 Spermatoge
nic failur
e
 PRM1(c.65G>A -> p.S22N), PRM2 (-67C>T)
285 (160 contro
l individuals,
125 infertile m
en with either
idiopathic azoo
spermia or olig
ozoospermia)
 Male infertility PRM2
 Show abstract
16632464 Male infer
tility
224 infertile p
atients
 Male infertility Protamine2 
 Show abstract
12771233 Male infer
tility
51 infertile ma
les
 Male infertility Prm1
Prm2
 Show abstract
12569175 Male infer
tility
 PRM2 (c248t alteration)
496 (226 steril
e male patients
, 270 proven-fe
rtile male volu
nteers)
 Male infertility PRM1
PRM2
 Show abstract
16870950 Male infer
tility

Male infertility Protamine-1 (P1)
Protamine-2 (P2)
 Show abstract
11451357 Poor ferti
lizing cap
acity, abn
ormalities
of spermi
ogenesis
125 (75 patient
s undergoing in
vitro fertiliz
ation (IVF), 50
donors of know
n fertility)
 Male infertility protamine 2 (P2)
 Show abstract
14680821 Associated
with dela
yed sperma
togenesis

Male infertility
Show abstract
10932193 Male infer
tility

Male infertility
Show abstract
27833122 Male infer
tility

Male infertility
Show abstract
26817310 Male infer
tility
 rs1646022

Male infertility
Show abstract
24012201 Non obstru
ctive azoo
spermia
31 (4 controls,
27 cases)
 Male infertility GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
23869807 Non obstru
ctive azoo
spermia, S
ertoli cel
l only syn
drome
20 (4 controls,
16 cases)
 Male infertility GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Associated
with sper
matogenesi
s and epig
enetic reg
ulation
18
 Male infertility GSE26881
 Show abstract
28361989 Hyposperma
togenesis
6 (3 controls,
3 Klienfelter s
yndrome
 Male infertility Microarray
 Show abstract
21989496 Oligozoosp
ermia
11 (8 infertile
and 3 fertile
men)
 Male infertility Microarray
 Show abstract