|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5036
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Proliferation-associated 2G4 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PA2G4 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
EBP1, HG4-1, ITAF45, p38-2G4 |
|
Chromosome
Chromosome number
|
12 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q13.2 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA process |
| UniProt ID |
Q9UQ80
|
| Protein name |
Proliferation-associated protein 2G4 (Cell cycle protein p38-2G4 homolog) (hG4-1) (ErbB3-binding protein 1) |
| Protein function |
May play a role in a ERBB3-regulated signal transduction pathway. Seems be involved in growth regulation. Acts a corepressor of the androgen receptor (AR) and is regulated by the ERBB3 ligand neuregulin-1/heregulin (HRG). Inhibits transcription |
| PDB |
2Q8K
,
3J2I
,
6CHT
,
6LSR
,
6SXO
,
6WM8
,
6Z6L
,
6Z6M
,
6Z6N
,
6ZM7
,
6ZME
,
6ZMI
,
6ZMO
,
7BHP
,
8K2C
,
8XSX
,
8XSY
,
8XSZ
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF00557
|
Peptidase_M24 |
19 → 295 |
Metallopeptidase family M24 |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Isoform 2 is undetectable whereas isoform 1 is strongly expressed in cancer cells (at protein level). Isoform 1 and isoform 2 are widely expressed, including heart, brain, lung, pancreas, skeletal muscle, kidney, placenta and liver. {E |
| Sequence |
|
| Sequence length |
394 |
| Interactions |
View interactions
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Anodontia |
Associate
|
31828582 |
| Autoimmune Diseases |
Stimulate
|
34113340 |
| Breast Neoplasms |
Inhibit
|
18355957 |
| Breast Neoplasms |
Associate
|
23361053 |
| Carcinoma Adenoid Cystic |
Associate
|
23110497 |
| Carcinoma Hepatocellular |
Associate
|
34257558 |
| Carcinoma Non Small Cell Lung |
Associate
|
24998263 |
| Carcinoma Pancreatic Ductal |
Associate
|
26088450 |
| Colorectal Neoplasms |
Associate
|
20421926, 31828582, 37604903 |
| Dermatitis Herpetiformis |
Associate
|
22991566 |
| Diabetes Mellitus |
Associate
|
31362984 |
| Diabetes Mellitus Type 1 |
Associate
|
35594935 |
| Gallbladder Neoplasms |
Associate
|
31752867 |
| Hepatitis B Chronic |
Associate
|
34113340 |
| Inflammation |
Stimulate
|
34113340 |
| Liver Failure |
Associate
|
34113340 |
| Lymphatic Metastasis |
Inhibit
|
23110497 |
| Lymphatic Metastasis |
Associate
|
26088450 |
| Lymphatic Metastasis |
Stimulate
|
33605574 |
| Metabolic Diseases |
Associate
|
31362984 |
| Muscle Weakness |
Associate
|
28025995 |
| Nasopharyngeal Carcinoma |
Associate
|
33605574, 36606322 |
| Neoplasm Metastasis |
Inhibit
|
20048076, 23110497 |
| Neoplasm Metastasis |
Stimulate
|
33605574 |
| Neoplasms |
Associate
|
17641068, 23110497, 26081906, 26088450, 31828582, 33605574, 34257558, 36606322 |
| Neoplasms |
Inhibit
|
26008146 |
| Prostatic Neoplasms |
Associate
|
15583694, 21965718, 25876877 |
| Prostatic Neoplasms |
Inhibit
|
20048076, 20159994 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
21965718 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
28025995 |
| Sleep Apnea Obstructive |
Associate
|
35132330 |
| Thyroid Cancer Papillary |
Associate
|
26008146 |
| Thyroid Neoplasms |
Inhibit
|
26008146 |
| Uterine Cervical Neoplasms |
Associate
|
26125746 |
|