Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7422
Gene Summary     SNPs            KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol VEGFA   Gene   UCSC   Ensembl
Aliases MVCD1, VEGF, VPF
Gene name vascular endothelial growth factor A
Alternate names vascular endothelial growth factor A, vascular endothelial growth factor A121, vascular endothelial growth factor A165, vascular permeability factor,
Gene location 6p21.1 (43770208: 43786486)     Exons: 9     NC_000006.12
Gene summary(Entrez) This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. [provided by RefSeq, Nov 2015]
OMIM 192240

SNPs

rs833061

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000006.12   g.43769749C>T
NC_000006.11   g.43737486C>T
NG_008732.1   g.4534C>T
NM_001204384.1   c.-1498C>T
NM_001204385.1   c.-958C>T
NM_001171629.1   c.-1498C>T
NM_001171630.1   c.-1498C>T
NM_001171628.1   c.-1498C>T
NM_001171627.1   c.-1498C>T
NM_001171622.1   c.-958C>T
rs2010963

Strand: +   Allele origin: germline,germline  Allele change: C/G   Mutation type: snp

  
NC_000006.12   g.43770613C>G
NC_000006.11   g.43738350C>G
NG_008732.1   g.5398C>G
NM_001033756.2   c.-94C>G
NM_001025366.2   c.-94C>G
NM_001025368.2   c.-94C>G
NM_001025367.2   c.-94C>G
NM_001025370.2   c.-94C>G
NM_001025369.2   c.-94C>G
NM_001204385.1   c.-94C>G
NM_0012043  
Clinical Significance: other

rs3025039

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NC_000006.12   g.43784799C>T
NC_000006.11   g.43752536C>T
NG_008732.1   g.19584C>T
NM_001025367.2   c.*237C>T
NM_001025366.2   c.*237C>T
NM_001025368.2   c.*237C>T
NM_001025369.2   c.*253C>T
NM_001025370.2   c.*237C>T
NM_001033756.2   c.*171C>T
NM_001171626.1   c.*237C>T
NM  
rs699947

Strand:    Allele origin: A(germline)/C(germline)  Allele change: A/C/T   Mutation type: snp

CM000668.2   g.43768652A>C
CM000668.2   g.43768652A>T
NC_000006.11   g.43736389A>C
NC_000006.12   g.43768652A>C
NC_000006.12   g.43768652A>T
NG_008732.1   g.3437A>C
NG_008732.1   g.3437A>T
NM_001025366.2   c.-2055A>C
NM_001025366.2   c.-2055A>T
NM_001025367.2   c.-2055A>C
NM_001025367.2   c.-2055A>T
NM_001025368.2   c.-2055A>C
NM_001025368.2   c.-2055A>T
NM_001025369.2   c.-2055A>C
NM_001025369.2   c.-2055A>T
NM_001025370.2   c.-2055A>C
NM_001025370.2   c.-2055A>T
NM_001033756.2   c.-2055A>C
NM_001033756.2   c.-2055A>T
NM_001171622.1   c.-2055A>C
NM_001171622.1   c.-2055A>T
NM_001171623.1   c.-2595A>C
NM_001171623.1   c.-2595A>T
NM_001171624.1   c.-2595A>C
NM_001171624.1   c.-2595A>T
NM_001171625.1   c.-2595A>C
NM_001171625.1   c.-2595A>T
NM_001171626.1   c.-2595A>C
NM_001171626.1   c.-2595A>T
NM_001171627.1   c.-2595A>C
NM_001171627.1   c.-2595A>T
NM_001171628.1   c.-2595A>C
NM_001171628.1   c.-2595A>T
NM_001171629.1   c.-2595A>C
NM_001171629.1   c.-2595A>T
NM_001171630.1   c.-2595A>C
NM_001171630.1   c.-2595A>T
NM_001204384.1   c.-2595A>C
NM_001204384.1   c.-2595A>T
NM_001204385.1   c.-2055A>C
NM_001204385.1   c.-2055A>T
NM_001317010.1   c.-2595A>C
NM_001317010.1   c.-2595A>T
NM_003376.5   c.-2055A>C
NM_003376.5   c.-2055A>T
Clinical Significance: other

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa05206  MicroRNAs in cancer
hsa05205  Proteoglycans in cancer
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa04510  Focal adhesion
hsa05418  Fluid shear stress and atherosclerosis
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04066  HIF-1 signaling pathway
hsa05323  Rheumatoid arthritis
hsa05212  Pancreatic cancer
hsa05219  Bladder cancer
hsa05211  Renal cell carcinoma
hsa04370  VEGF signaling pathway

Diseases

Associated diseases References
Adenomyosis PMID: 19197986
Alzheimer's disease PMID: 16569480
Amyotrophic lateral sclerosis (ALS) PMID: 16301496
Ankylosing spondylitis PMID: 16014410
ARDS PMID: 15741444
Asthenozoospermia PMID: 17341438
Asthma PMID: 16961715
Atherosclerosis PMID: 15937083
Avascular necrosis KEGG: H01529
Behcet's disease PMID: 15338501
Chronic obstructive pulmonary disease (COPD) PMID: 12853540
Dementia PMID: 16583410
Diabetes PMID: 18372903
Diabetic nephropathy PMID: 14988276
Ectopic pregnancy PMID: 15251976
Embryo implantation PMID: 22028446
Endometrial cancer PMID: 26101475
Endometrial polyp PMID: 24471989
Endometrial receptivity PMID: 19542542
Endometriosis PMID: 18706208
Endometriosis PMID: 19135668
Endometriosis PMID: 26059828
Extrapelvic endometriosis PMID: 11605057
Female infertility PMID: 22028446
Gential endometriosis PMID: 16027877
Henoch-Schonlein purpura PMID: 16395752
Hydrosalpinx PMID: 14585871
Implantation failure PMID: 18829023
Inflammatory bowel disease PMID: 16954806
Kawasaki disease PMID: 15470196
Kidney disease PMID: 12597245
Endometriosis associated infertility INFBASE20864099
Ovarian endometriosis INFBASE18053993
Deeply infiltrating endometriosis INFBASE17765237
Adenomyosis INFBASE16322068
Ovarian endometriosis INFBASE16048802
Endometriosis (ovarian) INFBASE16048802
External gential endometriosis INFBASE16027877
Female infertility INFBASE16019375
Polycystic ovary syndrome (PCOS) INFBASE14724102
Female infertility INFBASE12372470
Extrapelvic endometriosis INFBASE11605057
Endometriosis INFBASE8755660
Macular degeneration PMID: 16940309
Male infertility PMID: 15016771
Nephropathy PMID: 16526314
Oligozoospermia PMID: 17341438
Oocyte maturation PMID: 26411207
Ovarian endometriosis PMID: 9920107
Ovarian endometriosis PMID: 18053993
Ovarian endometriosis PMID: 18053993
Ovarian endometriosis PMID: 17296185
Ovarian endometriosis PMID: 16048802
Ovarian hyperstimulation syndrome(OHSS) PMID: 10783347
Pancreatitis PMID: 15917409
Polycystic ovary syndrome (PCOS) PMID: 25141961
Preeclampsia PMID: 14997002
Premature ovarian failure ( POF) PMID: 22872486
Preterm delivery PMID: 15059159
Psoriasis PMID: 17204151
Recurrent implantation failure (RIF) PMID: 26305668
Recurrent miscarriage PMID: 15820807
Renal disease PMID: 16421229
Respiratory distress syndrome PMID: 15741444
Retinopathy PMID: 15635051
Rheumatoid arthritis PMID: 15213335
Sarcoidosis PMID: 12740269
Sudden infant death syndrome (SIDS) PMID: 16916659
Systemic sclerosis PMID: 16740682
Ulcerative colitis PMID: 21297633
Unexplained infertility PMID: 18607827

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19135668 Endometrio
sis


EG-VEGF
Show abstract
14724102 Endometrio
sis

92 (50 women wi
th endometriosi
s (stage I-II26
cases and stag
e III-IV 24 cas
es), 42 women w
ithout endometr
iosis)
IL-18
VEGF
Show abstract
17765237 Endometrio
sis

62 (30 women wi
th endometriosi
s (10 ovarian,
10 bladder, 10
rectal), 32 con
trol women (10
proliferative e
ndometrium, 10
secretory endom
etrium, 4 norma
l ovary, 4 norm
al bladder, 4 n
ormal rectum))
VEGF
Flk-1
Show abstract
24901401 Endometrio
sis

39 cases of the
ectopic endome
trial tissues w
ithin the fallo
pian tubes
Cox-2
NF-KB
VEGF
Show abstract
25255852 Endometrio
sis
VEGF -1154G?>?A Brazili
an
294 (182 patien
ts with endomet
riosis, 112 con
trols)

Show abstract
17854531 Endometrio
sis

91 (laparoscopi
c diagnosis of
endometriosis (
n = 48) or who
had normal lapa
roscopic findin
gs with unexpla
ined infertilit
y (n = 43))
TNFalpha
Show abstract
20041256 Endometrio
sis
(-460 C/T and +405 C/G) Turkish
98 affected wom
en with endomet
riosis and 94 w
omen with no la
paroscopic evid
ence of disease

Show abstract
16019375 Endometrio
sis

28 (14 patients
with endometri
osis, 14 women
without endomet
riosis)
Female infertility
Show abstract
15746194 Endometrio
sis
(-460C>T and +405G>C, in the 5'-untranslated region of the VEGF ) South I
ndian
425 (215 women
with endometrio
sis, 210 contro
ls)

Show abstract
12372470 Endometrio
sis

34 (17 patients
with stage IV
endometriosis,
17 patients wit
h tubal inferti
lity and no end
ometriosis )
Female infertility
Show abstract
10632434 Endometrio
sis

66 (34 with and
32 without end
ometriosis, 10
oral contracept
ive users under
going tubal lig
ation)
Female infertility VEGF
IL-6
Show abstract
24520470 Endometrio
sis

179 (endometrio
sis patients (n
=90), non-endom
etriosis patien
ts (n=89))
Female infertility
Show abstract
19401003 Endometrio
sis

72 (34 with end
ometriosis, 38
without endomet
riosis)
AMH
FSH
TNF
GM-CSF
VEGF
Show abstract
24133580 Endometrio
sis


NME1
VEGF
IL-8
Show abstract
19945964 Endometrio
sis


VEGF-A
uPA
MMP-3
thrombospondin-1
PAI-1
TIMP-1
Show abstract
17609243 Endometrio
sis

121 (71 women w
ith endometrios
is, 50 controls
)
VEGF
uPA and MMP-3
Show abstract
16179118 Endometrio
sis

157 (37 specime
ns of entopic e
ndometrium, 34
specimens of ov
arian chocolate
cyst, 34 speci
mens of ovarian
chocolate cyst
, 15 specimens
of red peritone
al endometriosi
s lesions, 4 ab
dominal wall en
dometriosis les
ions, 33 patien
ts with other g
ynecological di

Show abstract
25218120 Endometrio
sis

17 (10 women wi
th endometriosi
s, 7 women with
out endometrios
is)
Female infertility TNF
VEGFA
Show abstract
25864257 Endometrio
sis

40 (21 patients
who received l
aparoscopic int
ervention due t
o endometriosis
, 19 patients w
ho were operate
d due to extra-
endometrial ben
ign cyst were i
ncluded in the
control group)

Show abstract
26773192 Endometrio
sis
PLGF (rs2268613), HIF-1? (rs11549465), VEGFR1 (rs9582036), Caucasi
an
1931 (1109 pati
ents with endom
etriosis and 82
2 controls)
VEGF
PLGF
VEGFR1
VEGFR2
HIF-1?
Show abstract
25984730 Endometrio
sis
VEGF (-460 C/T, +405 G/C, and +936 C/T) Tunisia
n
255 (105 women
with endometrio
sis, 150 women
with no laparos
copic evidence
of disease)

Show abstract
23061744 Endometrio
sis
VEGF gene -460C/T (rs833061), +405G/C (rs2010963), +936T/C (rs3025039) polymorphisms Asians,
Caucas
ians
5493 (2690 case
s, 2803 control
s)

Show abstract
22805978 Endometrio
sis


VEGF
Show abstract
22230112 Endometrio
sis


VEGF
VEGF
Show abstract
22128802 Endometrio
sis
-460T>C, +405G>C Iran
1080 (480 patie
nts with endome
triosis, 600 no
rmal controls)

Show abstract
20829186 Endometrio
sis


MIF
VEGF
IL-8
MCP-1
Show abstract
20685027 Endometrio
sis
VEGF (-2578 A/C, -1154 G/A, -634 G/C and 936 C/T), ACE (-240 A/T and 2350 A/G) Estonia
n
349 (150 women
with endometrio
sis, 199 contro
l subjects)
VEGF
Show abstract
20555002 Endometrio
sis
VEGF (-460 C/T, +405 G/C)
112 (60 with no
endometriosis,
11 had mild or
early-stage en
dometriosis, 41
had severe end
ometriosis)
VEGF
Show abstract
20137818 Endometrio
sis


Bax
VEGF
IL-1beta
Show abstract
19531502 Endometrio
sis
VEGF (-460C/T, -1154G/A, -2578C/A and +936C/T) Chinese
704 (344 women
with endometrio
sis, 360 health
y women without
endometriosis)
VEGF
Show abstract
18930211 Endometrio
sis
VEGF 936C/T Caucasi
an
366 (186 with e
ndometriosis, 1
80 controls wit
hout the diseas
e)
VEGF
Show abstract
18644593 Endometrio
sis

60 (30 women wi
th endometriosi
s, 30 endometri
um biopsy sampl
es from 30 heal
thy women)
ANGPT1
ANGPT2
MMP-1
MMP-2
MMP-9
VEGF
Show abstract
17977866 Endometrio
sis
VEGF(+405G>C ) Italian
343 (203 Italia
n women affecte
d by endometrio
sis, 140 women
without laparos
copic evidence
of the disease)
VEGF
Show abstract
17963063 Endometrio
sis
VEGF (-460 C/T, +405 G/C, +936 C/T polymorphisms )
328 (147 endome
triosis cases d
iagnosed by lap
arotomy or lapa
roscopy at a un
iversity hospit
al, and 181 con
trols)
VEGF
Show abstract
16136892 Endometrio
sis

63 (38 patients
with endometri
osis, 25 specim
ens of endometr
ium were biopsi
ed from women w
ithout endometr
iosis)
TSP-1
VEGF
Show abstract
15979997 Endometrio
sis
VEGF (+405 C/G polymorphism, -460 C/T polymorphism)
504 (215 women
with advanced s
tage endometrio
sis, 219 contro
l women without
endometriosis,
70 fertile wom
en)
VEGF
Show abstract
15958314 Endometrio
sis

159 (35 specime
ns of normal en
dometrium, 48 e
utopic endometr
ium of endometr
iosis, 76 ectop
ic endometrium)
NF-kappaB
VEGF
Show abstract
15283056 Endometrio
sis
VEGF-460
253 (122 patien
ts with endomet
riosis, 131 pat
ients without e
ndometriosis)
VEGF
Show abstract
12095505 Endometrio
sis


VEGF
TSP-1
Show abstract
26656198 Endometrio
sis

6 endometriosis
patients
MMP9
TIMP1
VEGFA
Show abstract
22736326 Endometrio
sis

353 (121 contro
ls without endo
metriosis at la
paroscopy and f
rom 232 women w
ith endometrios
is (minimal-mil
d n = 148; mode
rate-severe n =
84))
Annexin V
VEGF
CA-125 and sICAM-1
glycodelin
Show abstract
18976754 Endometrio
sis


VEGF
Show abstract
20385382 Endometrio
sis

66 (46 nonobese
women with lap
aroscopically a
nd histopatholo
gically confirm
ed endometriosi
s, 20 control w
omen without pe
lvic pathology)
Ghrelin
VEGF
Show abstract
17602688 Endometrio
sis

46 (32 with sus
pected endometr
iosis, 14 with
confirmed endom
etriosis)
VEGF
Show abstract
15641695 Endometrio
sis

60 (20 women wi
th endometriosi
s, 20 women wit
hout endometrio
sis, 20 control
s)
VEGF
Show abstract
15169657 Endometrio
sis

24 (14 patients
with endometri
osis (endometri
osis group), 10
normal women (
control group)
)
VEGF
Show abstract
14653093 Endometrio
sis

67 (19 women wi
th endometriosi
s, 21 non-endom
etriosis, 15 eu
topic endometri
um collected fr
om women with e
ndometriosis, 1
2 non-endometri
osis)
VEGF
Show abstract
16940291 Endometrio
sis

39 (25 women wi
th endometriosi
s, 14 women wit
hout endometrio
sis)
VEGF
VEGFR-2
Show abstract
8755660 Endometrio
sis


FLT1
KDR
VEGFA
Show abstract
14667896 Endometrio
sis


VEGF
Show abstract
9688413 Endometrio
sis

53 (10 women wi
thout endometri
osis (group I),
43 women with
endometriosis (
group II))
VEGF
Show abstract
22392487 Endometrio
sis
VEGF (+936TC, -460CT, +405CG, -2578AC, -1154GA)
11 studies
VEGF
Show abstract
20864099 Endometrio
sis


Female infertility VEGF
Show abstract
19957608 Endometrio
sis


VEGF
Show abstract
19350508 Endometrio
sis
VEGF -1154G/A, -460C/T
1077 (344 endom
etriosis patien
ts, 174 adenomy
osis patients,
360 frequency-m
atched control
women of endome
triosis, 199 fr
equency-matched
control women
of adenomyosis)
Female infertility VEGF
Show abstract
16027877 Endometrio
sis (Genit
al)


Female infertility IL-1beta
IL-2
IL-6
TGFbeta
VEGF
Show abstract
11605057 Endometrio
sis (extra
pelvic)


VEGF
COX-2
Show abstract
24845415 Endometrio
sis

81 (50 patients
with endometri
osis, 31 had no
endometriosis
)
Female infertility IL-6
Show abstract
18053993 Endometrio
sis (ovari
an)

50 patients wit
h ovarian endom
etriotic cysts
Cox-2
VEGF
Show abstract
16048802 Endometrio
sis (ovari
an)

73 (36 with ser
ous cystoadenom
a, 30 with ovar
ian endometrios
is, 7 with cyst
oadenocarcinoma
)
VEGF
s-VEGFR-1
Show abstract
16322068 Endometrio
sis


IL-8
CXCR1
CXCR2
Show abstract
22542989 Endometrio
sis

142 (65 women w
ith laparoscopi
cally and histo
pathologically
confirmed endom
etriosis, 40 wo
men with pelvic
adhesions, 37
control women w
ithout pelvic p
athology)

Show abstract
23332132 Endometrio
sis

18 patients wit
h endometriosis
Female infertility CXCR4
EpCAM
ER
PR
VEGF-A
FR-?
HIF-1?
Show abstract
26577912 Endometrio
sis

29 women with e
ndometriosis

Show abstract
21335415 Endometrio
sis

96 (58 women wi
th endometriosi
s, 38 control w
omen)
miR-125a
miR-222
VEGF-A
miR-17-5p
TSP-1
Show abstract
15668894 Endometrio
sis

178 (10 eutopic
endometrial, 2
3 normal perito
neal, and 62 en
dometriotic tis
sues surgically
obtained from
47 women with e
ndometriosis (g
roup 2) were co
mpared with tho
se in 12 contro
l eutopic endom
etrial and 9 no
rmal peritoneal
tissues from 1
5 women without
VEGF-A
VEGF-C
Show abstract
19821100 Endometrio
sis

86 (46 patients
with surgicall
y confirmed end
ometriosis, 40
controls with n
o clinical evid
ence of the dis
ease or detecta
ble endometriot
ic lesions)
VEGF-A
Show abstract
28397725 Endometrio
sis



Show abstract
27836223 Endometrio
sis
VEGF (-2578C>A, -460T>C, -1154G>A, +405G>C and +936C>T), VEGFR2 (-604T>C, 1192C>T) Brazili
an
516 (293 endome
triosis patient
s, 223 controls
)

Show abstract