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Gene id 283120
Gene Summary    Diseases    PubMed    

Gene Summary
Gene Symbol H19   Gene   UCSC   Ensembl
Aliases ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, WT2
Gene name H19, imprinted maternally expressed transcript (non-protein coding)
Alternate names H19, imprinted maternally expressed untranslated mRNA, long intergenic non-protein coding RNA 8,
Gene location 11p15.5 (2001465: 1995175)     Exons: 6     NC_000011.10
Gene summary(Entrez) This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome.
OMIM 103280

Diseases

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Associated diseases References
Cancer GAD: 19843670
Cancer (bladder) GAD: 18262338
Cancer (breast) GAD: 19843670
Beckwith-Wiedemann syndrome OMIM: 103280
Russell-Silver syndrome KEGG: H00711
Wilms tumor OMIM: 103280
Preeclampsia GAD: 19342096
Pregnancy loss GAD: 18573128
Recurrent pregnancy loss (RPL) INFBASE: 22959455
Unexplained infertility INFBASE: 20042264
Male factor infertility MIK: 19880108
Defective human spermatozoa MIK: 26804237
Male factor infertility MIK: 19878521
Sperm concentration MIK: 23862228
Obstructive azoospermia MIK: 21389080
Oligozoospermia MIK: 18178607
Spermatogenesis defects MIK: 23975186
Oligozoospermia MIK: 19880108
Asthenozoospermia MIK: 23862228
Oligozoospermia MIK: 23862228
Abortion GAD: 20587610
Endometriosis INFBASE: 26089099
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Spermatogenic defects MIK: 26804237
Hypospermatogenesis MIK: 28361989
Male infertility MIK: 19878521
Recurrent spontaneous miscarriage MIK: 22959455
Obstructive azoospermia MIK: 21389080
Oligozoospermia MIK: 19880108
Sertoli cell-only syndrome MIK: 30478911
Asthenozoospermia MIK: 23862228
Sperm concentration MIK: 23862228
Spermatogenic defects MIK: 31037746

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26804237 Defective
human sper
matozoa
95 (46 Asthenoz
oospermia patie
nts, 49 age-mat
ched normal con
trols)
 Male infertility MEST
 FAM50B
LINE-1
P16
GNAS and H19
 Show abstract
19880108 Male facto
r infertil
ity
25 (10 oligozoo
spermic, 10 abn
ormal protamine
replacement pa
tients, 5 known
fertile donors
)
 Male infertility LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
 Show abstract
23975186 Male infer
tility, Sp
ermatogeni
c defects

Male infertility
Show abstract
19880108 Oligozoosp
ermic

Male infertility LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
 Show abstract
19878521 Idiopathic
male infe
rtility
 Aberrant imprinting
181 (148 idiopa
thic infertile
men, 33 normozo
ospermic contro
ls)
 Male infertility  IGF2/H19 ICR1
MEST
 Show abstract
22959455 Idiopathic
recurrent
spontaneo
us miscarr
iage

Male infertility
Show abstract
23862228 Sperm conc
entration,
oligozoos
permia and
asthenozo
ospermia
38 (18 cases of
single factor-
induced oligozo
ospermia (sperm
concentration
< 15 x 10(6)/ml
), 20 cases of
single factor-i
nduced asthenoz
oospermia (prog
ressively motil
e sperm <32%))
 Male infertility
Show abstract
21389080 Obstructiv
e azoosper
mia
60 (18 azoosper
mia, 10 onstruc
tive azoospermi
a, 5 NOA, 3 unk
nown pathology,
17 men undergo
ing vasectomy r
eversal, 9 fert
ile men)
 Male infertility H19
 Show abstract
18178607 Oligosperm
ia
15 patients wit
h a sperm count
below 10 x 10(
6)/ml
 Male infertility H19
MEST
 Show abstract
30478911 Sertoli ce
ll-only sy
ndrome, Ma
le inferti
lity
39 Sertoli cell
-only syndrome
infertile patie
nts
 Male infertility HOXD9
SYCE1
COL1A1
H19 and KCNQ1
 Show abstract
30373665 Idiopathic
male infe
rtility
 Han Chi
nese
 135 (normozoosp
ermia (n?=?39),
moderate oligo
zoospermia (n?=
?45), and sever
e oligozoosperm
ia (n?=?51), an
d fertile contr
ols (n?=?59))
 Male infertility NGS (Methylation pattern)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28361989 Hyposperma
togenesis
6 (3 controls,
3 Klienfelter s
yndrome
 Male infertility Microarray
 Show abstract
31037746 Spermatoge
nic defect
s
16 (1 control,
15 cases)
 Male infertility GSE6023 analyzed using GEO2R
 Show abstract