EPS8L2 - EPS8 like 2 Gene
Also Known as EPS8R2; DFNB106
生物種: Homo sapiens
About EPS8L2
This gene has 31 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 41.5), small intestine (RPKM 39.9) and 18 other tissues.
Summary
EPS8L2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_022772.4 | NP_073609.2 | epidermal growth factor receptor kinase substrate 8-like protein 2 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables actin binding |
IDA
IDA: Inferred from direct assay
|
14565974 | GOA |
| contributes to guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
14565974 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14565974 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in Rho protein signal transduction |
IDA
IDA: Inferred from direct assay
|
14565974 | GOA |
| involved in positive regulation of ruffle assembly |
IGI
IGI: Inferred from genetic interaction
|
14565974 | GOA |
| involved in regulation of Rho protein signal transduction |
IDA
IDA: Inferred from direct assay
|
14565974 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
14565974 | GOA |
| located in ruffle membrane |
IDA
IDA: Inferred from direct assay
|
14565974 | GOA |
EPS8L2 Protein Structure
PTB: Phosphotyrosine-binding domain (51 - 181)
SH3_1: SH3 domain (500 - 543)
- 0
- 200
- 400
- 600
- 715 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
epidermal growth factor receptor kinase substrate 8-like protein 2 |
|
EPS8L2 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
EPS8L2 | Q9H6S3 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | DMWD | Homo sapiens | G5E9A7 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | DMWD | Homo sapiens | G5E9A7 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | DMWD | Homo sapiens | G5E9A7 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | CTSD | Homo sapiens | P07339 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | CTSD | Homo sapiens | P07339 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | CTSD | Homo sapiens | P07339 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | NEFL | Homo sapiens | P07196 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | NEFL | Homo sapiens | P07196 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | NEFL | Homo sapiens | P07196 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | GRN | Homo sapiens | P28799 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | GRN | Homo sapiens | P28799 | 32814053 | |
|
Intra
|
EPS8L2 | Q9H6S3 | GRN | Homo sapiens | P28799 | 32814053 |
EPS8L2 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P810994 | EPS8L2 Antibody | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 106 |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Deafness, Autosomal Dominant 67 |
|
|
| Deafness, Autosomal Recessive 102 |
|
|
| Autosomal Dominant Nonsyndromic Deafness 74 |
|
|
| Deafness, Autosomal Dominant 68 |
|
|
| Deafness, Autosomal Dominant 44 |
|
|
| Sensorineural Hearing Loss |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Felis catus | EPS8L2 | VGNC | VGNC:61922 |
| Rattus norvegicus | EPS8L2 | RGD | RGD:1310912 |
| Canis familiaris | EPS8L2 | VGNC | VGNC:40429 |
| Macaca mulatta | EPS8L2 | VGNC | VGNC:72081 |
| Mus musculus | EPS8L2 | MGD | MGI:2138828 |
| Bos taurus | EPS8L2 | VGNC | VGNC:58372 |
| Others | EPS8L2 | NCBI |