|
Gene id |
3486 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
IGFBP3 Gene UCSC Ensembl |
|
Aliases |
BP-53, IBP3 |
|
Gene name |
insulin like growth factor binding protein 3 |
|
Alternate names |
insulin-like growth factor-binding protein 3, IBP-3, IGF-binding protein 3, IGFBP-3, acid stable subunit of the 140 K IGF complex, binding protein 29, binding protein 53, growth hormone-dependent binding protein, |
|
Gene location |
7p12.3 (45921271: 45912244) Exons: 5 NC_000007.14
|
|
Gene summary(Entrez) |
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (I
|
|
OMIM |
146732 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04115 | p53 signaling pathway | | hsa04218 | Cellular senescence | | hsa05202 | Transcriptional misregulation in cancer | |
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| Associated diseases |
References |
| Cancer | GAD: 14693733 |
| Brain ischemia | GAD: 18624627 |
| Thyroid diseases | GAD: 19064126 |
| Alzheimer's disease | GAD: 19141999 |
| Schizophrenia | GAD: 17044098 |
| Fetal Growth Retardation | GAD: 19217707 |
| Endometriosis | INFBASE: 10785227 |
| Female infertility | INFBASE: 16047582 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 7515389 |
| Endometriosis | INFBASE: 8921126 |
| Uterine leiomyomas | INFBASE: 15051037 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Connective tissue diseases | GAD: 19527514 |
| Growth disorders | GAD: 18984657 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Hypospadias | MIK: 25108383 |
| Play key roles in the coordinated regulation of testicular germ cell homeostasis | MIK: 19952275 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19952275 |
Play key r
oles in th
e coordina
ted regula
tion of te
sticular g
erm cell h
omeostasis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 25108383 |
Hypospadia
s
|
rs7811653 |
|
1,006 boys who
underwent surge
ry for hypospad
ias and 5,486 i
ndividuals (2,3
90 males and 3,
096 females)
|
Male infertility |
GWAS
|
Show abstract |
|