|
Gene id |
1956 |
| Gene Summary Protein Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
EGFR Gene UCSC Ensembl |
|
Aliases |
ERBB, ERBB1, HER1, NISBD2, PIG61, mENA |
|
Gene name |
epidermal growth factor receptor |
|
Alternate names |
epidermal growth factor receptor, avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, cell growth inhibiting protein 40, cell proliferation-inducing protein 61, epidermal growth factor receptor tyrosine kinase domain, erb-b2 receptor tyrosine , |
|
Gene location |
7p11.2 (55019020: 55208079) Exons: 31 NC_000007.14
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growt
|
|
OMIM |
131550 |
Protein Summary
|
| Protein general information
| P00533
Name: Epidermal growth factor receptor (EC 2.7.10.1) (Proto oncogene c ErbB 1) (Receptor tyrosine protein kinase erbB 1)
Length: 1210 Mass: 134,277
Tissue specificity: Highly expressed in the prostate, restricted to glandular and ductal epithelial cells. Also expressed in bladder, kidney, pancreas, lung, cervix, testis and ovary. Weak expression in a subset of pancreatic islet cells, squamous epithel
|
| Sequence |
MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYD
LSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKTGLKELPMRNLQEILHGAVRF
SNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRG
KSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYV
VTDHGSCVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVA
FRGDSFTHTPPLDPQELDILKTVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGL
RSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQKTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVS
CRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHYIDGPHCVKTCPAGVM
GENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRRRHIVR
KRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREA
TSPKANKEILDEAYVMASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGM
NYLEDRRLVHRDLAARNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSY
GVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDP
QRYLVIQGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQQGFFSSPSTSRTPLLSSLSATSNNSTVACI
DRNGLQSCPIKEDSFLQRYSSDPTGALTEDSIDDTFLPVPEYINQSVPKRPAGSVQNPVYHNQPLNPAPSRDPHY
QDPHSTAVGNPEYLNTVQPTCVNSTFDSPAHWAQKGSHQISLDNPDYQQDFFPKEAKPNGIFKGSTAENAEYLRV
APQSSEFIGA
|
| Structural information |
|
| Other Databases |
GeneCards: EGFR Malacards: EGFR |
|
|
|
|
| Associated diseases |
References |
| Cancer | GAD: 21531791 |
| Cancer (Adenocarcinoma) | GAD: 19740513 |
| Cancer (Biliary tract neoplasms) | GAD: 19169683 |
| Cancer (bladder) | GAD: 19372140 |
| Cancer (brain) | GAD: 16030116 |
| Cancer (cervical) | GAD: 19563658 |
| Cancer (colon) | GAD: 18413774 |
| Cancer (colorectal) | GAD: 16098254 |
| Cancer (cystadenocarcinoma) | GAD: 20495538 |
| Cancer (endometrial) | GAD: 17644807 |
| Cancer (epithelial ovarian) | GAD: 19064572 |
| Cancer (esophageal) | GAD: 17227303 |
| Cancer (gastric) | GAD: 19362747 |
| Cancer (glioblastoma) | GAD: 21175304 |
| Cancer (glioma) | GAD: 21531791 |
| Cancer (leukemia) | GAD: 19074885 |
| Cancer (liver) | GAD: 16324836 |
| Cancer (lung) | GAD: 16376942 |
| Cancer (melanoma) | GAD: 16240846 |
| Cancer (oral) | GAD: 12915878 |
| Cancer (osteosarcoma) | GAD: 18464244 |
| Cancer (pancreatic) | GAD: 17453292 |
| Cancer (Papilary) | GAD: 19253367 |
| Cancer (prostate) | GAD: 16018936 |
| Cancer (rectal) | GAD: 19095777 |
| Cancer (Renal cell) | GAD: 20137853 |
| Cancer (Squamous cell) | GAD: 14599865 |
| Cancer (stomach) | GAD: 16032426 |
| Cancer (breast) | GAD: 14729599 |
| Cancer (salivary gland) | KEGG: H01508 |
| Cancer (oral) | KEGG: H00016 |
| Cancer (Oropharyngeal) | KEGG: H01559 |
| Cancer (bladder) | KEGG: H00022 |
| Cancer (Non-small cell lung) | KEGG: H00014 |
| CANCER (cervical) | KEGG: H00030 |
| Choriocarcinoma | KEGG: H00028 |
| Cancer (gastric) | KEGG: H00018 |
| Glioma | KEGG: H00042 |
| Cancer (Laryngeal) | KEGG: H00055 |
| Adenocarcinoma | OMIM: 131550 |
| Anaplastic astrocytoma | GAD: 11504770 |
| Anus neoplasms | GAD: 20459770 |
| Astrocytoma | GAD: 18949739 |
| Cancer (head and neck) | GAD: 15829495 |
| Cancer (esophageal) | KEGG: H00017 |
| Acute coronary syndrome | GAD: 18664296 |
| Cardiovascular disease | GAD: 18664296 |
| Polycystic kidney disease | GAD: 12653106 |
| Cleft defects | GAD: 20634891 |
| Inflammatory bowel disease | OMIM: 131550 |
| Hyperparathyroidism | GAD: 20424473 |
| Bronchial hyperreactivity | GAD: 20357714 |
| Systemic lupus erythematosus (SLE) | GAD: 15540509 |
| Asthma | GAD: 17092854 |
| Bone diseases | GAD: 19453261 |
| Psychological disorders | GAD: 19086053 |
| Several psychiatric disorders | GAD: 19086053 |
| Kidney diseases | GAD: 17303584 |
| Prostatic hyperplasia | GAD: 16461080 |
| Adenomyosis | INFBASE: 9476071 |
| Female infertility | INFBASE: 18579857 |
| Endometriosis | INFBASE: 18987482 |
| Decidualization | INFBASE: 24945252 |
| Leiomyoma | INFBASE: 15749523 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 22951915 |
| Non obstructive azoospermia | MIK: 11966576 |
| Male factor infertility | MIK: 22611165 |
| Male factor infertility | MIK: 23645088 |
| Sperm fertilization capacity | MIK: 11966576 |
| Cryptorchidism | MIK: 12508124 |
| Male factor infertility | MIK: 1772304 |
| Sertoli cell only syndrome (SCOS) | MIK: 22611165 |
| Tubal damage | MIK: 1772304 |
| Asthenozoospermia | MIK: 24931671 |
| Azoospermia | MIK: 22611165 |
| Female infertility | INFBASE: 25034535 |
| Endometriosis | GAD: 17852426 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Asthenospermia | MIK: 23645088 |
| Asthenospermia | MIK: 24931671 |
| Azoospermia | MIK: 22611165 |
| Sertoli-cell only syndrome | MIK: 22611165 |
| Cryptorchid | MIK: 12508124 |
| cryptorchid boys | MIK: 12508124 |
| Cryptorchidism | MIK: 28606200 |
| Idiopathic hypogonadotropic hypogonadism | MIK: 18591887 |
| Idiopathic hypogonadotropic hypogonadism (IHH) | MIK: 18591887 |
| Male infertility | MIK: 1772304 |
| Nonobstructive azoospermia | MIK: 11966576 |
| sperm fertilization capacity | MIK: 11966576 |
| Teratozoospermia | MIK: 17327269 |
| Tubular damage | MIK: 1772304 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 12508124 |
cryptorchi
d boys
|
|
|
|
Male infertility |
EGF
|
Show abstract |
| 1772304 |
Tubular da
mage
|
|
|
|
Male infertility |
|
Show abstract |
| 22611165 |
Azoospermi
a, Sertoli
-cell only
syndrome
|
|
|
16 (6 controls,
6 Sertoli-cell
only syndrome,
4 azoospermic m
en with normal
spermatogenesis
and epididymal
obstruction
)
|
Male infertility |
GJA1
|
Show abstract |
| 11966576 |
Nonobstruc
tive azoos
permia
|
|
|
88 Nonobstructi
ve azoospermia
|
Male infertility |
|
Show abstract |
| 1772304 |
Male infer
tility
|
|
|
12
|
Male infertility |
|
Show abstract |
| 18591887 |
Idiopathic
hypogonad
otropic hy
pogonadism
|
|
|
37 (17 IHH, 20
controls)
|
Male infertility |
FV
FX and AT III
|
Show abstract |
| 18591887 |
Idiopathic
hypogonad
otropic hy
pogonadism
(IHH)
|
|
|
37 (17 with IHH
, 20 age-matche
d healthy contr
ols)
|
Male infertility |
FV
FX
ATIII
|
Show abstract |
| 12508124 |
Cryptorchi
d
|
|
|
|
Male infertility |
EGF
EGFR
|
Show abstract |
| 11966576 |
sperm fert
ilization
capacity
|
|
|
88 patients wit
h nonobstructiv
e azoospermia
|
Male infertility |
|
Show abstract |
| 23645088 |
Asthenospe
rmia
|
(m.9387 G>A) in COXIII |
Tunisia
n
|
166 (66 inferti
le men sufferin
g from asthenos
permia (n=34) i
n comparison to
normospermic i
nfertile men (n
=32) and fertil
e men (n=100))
|
Male infertility |
cytochrome oxidase I
cytochrome oxidase II
cytochrome oxidase III
adenosine triphosphate synthase6
ATP synthase8
and cytochrome b
|
Show abstract |
| 24931671 |
Asthenospe
rmia
|
COXII gene (m.8021 G/A), tRNA(His) gene (m.12187C>A) |
Tunisia
n
|
64 (31 asthenos
permia, 33 norm
ospermic infert
ile men)
|
Male infertility |
cytochrome oxidase I
cytochrome oxidase II
cytochrome oxidase III
adenosine triphosphate synthase6
ATP synthase8
cytochrome b and tRNA(His)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|