PAX8 - paired box 8 Gene
Also Known as PAX-8
Species: Homo sapiens
About PAX8
This gene has 14 transcripts (splice variants), 167 orthologues, 50 paralogues and is associated with 85 phenotypes. Biased expression in thyroid (RPKM 261.2) and kidney (RPKM 40.3).
Summary
This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
PAX8 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_003466.4 | NP_003457.1 | paired box protein Pax-8 isoform PAX8A |
| NM_013952.4 | NP_039246.1 | paired box protein Pax-8 isoform PAX8C |
| NM_013953.4 | NP_039247.1 | paired box protein Pax-8 isoform PAX8D |
| NM_013992.4 | NP_054698.1 | paired box protein Pax-8 isoform PAX8E |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
8861958 | GOA |
| enables DNA binding |
IMP
IMP: Inferred from mutant phenotype
|
9590296 | GOA |
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
9388203 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
9388203 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19010321 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| enables transcription cis-regulatory region binding |
IDA
IDA: Inferred from direct assay
|
15356023 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
9388203 | GOA |
PAX8 Protein Structure
PAX: 'Paired box' domain (9 - 133)
- 0
- 100
- 200
- 300
- 398 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
paired box protein Pax-8 |
|
PAX8 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PAX8 | Q06710 | TLE5 | Homo sapiens | Q08117-2 | 32296183 | |
|
Intra
|
PAX8 | Q06710 | CDK3 | Homo sapiens | Q00526 | 32296183 | |
|
Intra
|
PAX8 | Q06710 | LONRF1 | Homo sapiens | Q17RB8 | 32296183 | |
|
Intra
|
PAX8 | Q06710 | NCL | Homo sapiens | P19338 | 20195357 | |
|
Intra
|
PAX8 | Q06710 | DOK4 | Homo sapiens | Q8TEW6 | 32296183 | |
|
Intra
|
PAX8 | Q06710 | SAE1 | Homo sapiens | Q9UBE0 | 32296183 |
Recombinant PAX8 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P74651 | PAX8 Protein, Human (His) | Q06710 (P2-S146) | ≥ 95%, as determined by reducing SDS-PAGE. |
PAX8 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83433 | PAX8 Antibody (YA3178) | WB, IHC-P, ICC/IF | Human |
| HY-P84500 | PAX8 Antibody (YA4197) | WB, IHC-P, FC, ELISA | Human |
| HY-P84500A | PAX8 Antibody (YA4197)(PBS only) | WB, IHC-P, FC, ELISA | Human |
| HY-P85779 | PAX8 Antibody (YA5471) | WB | Mouse |
| HY-P86202 | PAX8 Antibody (YA5894) | WB, IHC-P, ICC/IF, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
|
| Athyreosis |
|
|
| Thyroid Ectopia |
|
|
| Congenital Hypothyroidism |
|
|
| Differentiated Thyroid Carcinoma |
|
|
| Hypothyroidism |
|
|
| Thyroid Gland Cancer |
|
|
| Endosalpingiosis |
|
|
| Goiter |
|
|
| Follicular Adenoma |
|
|
| Thyroid Gland Anaplastic Carcinoma |
|
|
| Ovarian Mesodermal Adenosarcoma |
|
|
| Thymus Basaloid Carcinoma |
|
|
| Mucinous Cystadenofibroma |
|
|
| Sarcomatoid Renal Cell Carcinoma |
|
|
| Nephrogenic Adenoma |
|
|
| Cystadenofibroma |
|
|
| Bladder Clear Cell Adenocarcinoma |
|
|
| Urethra Clear Cell Adenocarcinoma |
|
|
| Pendred Syndrome |
|
|
| Urethra Adenocarcinoma |
|
|
| Epithelioid Type Angiomyolipoma |
|
|
| Ovarian Mucinous Neoplasm |
|
|
| Benign Teratoma |
|
|
| Fallopian Tube Carcinoma |
|
|
| Thymus Clear Cell Carcinoma |
|
|
| Renal Pelvis Adenocarcinoma |
|
|
| Ovarian Seromucinous Carcinoma |
|
|
| Chronic Salpingitis |
|
|
| Vulvar Sebaceous Carcinoma |
|
|
| Atypical Follicular Adenoma |
|
|
| Rete Testis Neoplasm |
|
|
| Rete Testis Adenocarcinoma |
|
|
| Hemangioblastoma |
|
|
| Thyroid Gland Mucoepidermoid Carcinoma |
|
|
| Thyroid Angiosarcoma |
|
|
| Angiomyolipoma |
|
|
| Thyroid Sarcoma |
|
|
| Wolffian Duct Adenocarcinoma |
|
|
| Graves' Disease |
|
|
| Thyroid Gland Follicular Carcinoma |
|
|
| Ovarian Benign Neoplasm |
|
|
| Carcinosarcoma |
|
|
| Rete Testis Adenoma |
|
|
| Urethral Diverticulum |
|
|
| Wolffian Duct Adenoma |
|
|
| Glycogen-Rich Clear Cell Breast Carcinoma |
|
|
| Mediastinum Sarcoma |
|
|
| Nephrogenic Adenoma Of Urinary Bladder |
|
|
| Papillary Carcinoma |
|
|
| Thyroid Malformation |
|
|
| Serous Cystadenocarcinoma |
|
|
| Kidney Benign Neoplasm |
|
|
| Fallopian Tube Adenocarcinoma |
|
|
| Thyroid Cancer, Nonmedullary, 2 |
|
|
| Ovarian Large-Cell Neuroendocrine Carcinoma |
|
|
| Bladder Benign Neoplasm |
|
|
| Endocervical Carcinoma |
|
|
| Ovarian Mixed Germ Cell Neoplasm |
|
|
| Collecting Duct Carcinoma |
|
|
| Nasal Cavity Olfactory Neuroblastoma |
|
|
| Peritoneum Cancer |
|
|
| Combined Thymoma |
|
|
| Mixed Type Thymoma |
|
|
| Benign Struma Ovarii |
|
|
| Epididymis Adenocarcinoma |
|
|
| Water-Clear Cell Adenoma |
|
|
| Epididymis Cancer |
|
|
| Thyroid Gland Disease |
|
|
| Urethra Cancer |
|
|
| Renal Adenoma |
|
|
| Peritoneal Serous Adenocarcinoma |
|
|
| Papillary Serous Adenocarcinoma |
|
|
| Thyroid Dyshormonogenesis 1 |
|
|
| Cystic Teratoma |
|
|
| Perivascular Epithelioid Cell Tumor |
|
|
| Clear Cell Hidradenoma |
|
|
| Krukenberg Carcinoma |
|
|
| Metanephric Adenoma |
|
|
| Adenofibroma |
|
|
| Endometrial Squamous Cell Carcinoma |
|
|
| Peritoneal Mesothelioma |
|
|
| Ovarian Germ Cell Teratoma |
|
|
| Clear Cell Adenocarcinoma |
|
|
| Colloid Adenoma |
|
|
| Ovarian Germ Cell Cancer |
|
|
| Thyroid Dyshormonogenesis 2a |
|
|
| Ovarian Mucinous Adenocarcinoma |
|
|
| Wilms Tumor 5 |
|
|
| Neuroendocrine Tumor |
|
|
| Thyroid Gland Medullary Carcinoma |
|
|
| Cystinuria |
|
|
| Ovarian Carcinosarcoma |
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
|
| Mixed Cell Type Cancer |
|
|
| Malignant Struma Ovarii |
|
|
| Endemic Goiter |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Prostatic Acinar Adenocarcinoma |
|
|
| Nephrogenic Adenoma Of The Urethra |
|
|
| Ovarian Endodermal Sinus Tumor |
|
|
| Multinodular Goiter |
|
|
| Ureterocele |
|
|
| Renal Oncocytoma |
|
|
| Ovarian Primitive Germ Cell Tumor |
|
|
| Glandular Cystitis |
|
|
| Endocervical Adenocarcinoma |
|
|
| Gallbladder Signet Ring Cell Adenocarcinoma |
|
|
| Papillary Adenocarcinoma |
|
|
| Thymic Carcinoma |
|
|
| Cystadenocarcinoma |
|
|
| Appendix Cancer |
|
|
| Appendix Disease |
|
|
| Appendix Adenocarcinoma |
|
|
| Ovarian Serous Carcinoma |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
|
| Perivascular Tumor |
|
|
| Uterus Perivascular Epithelioid Cell Tumor |
|
|
| Laryngeal Neuroendocrine Tumor |
|
|
| Thymus Large Cell Carcinoma |
|
|
| Papillary Adenoma |
|
|
| Mucinous Adenocarcinoma |
|
|
| Female Reproductive Endometrioid Cancer |
|
|
| Ovary Adenocarcinoma |
|
|
| Mixed Germ Cell Cancer |
|
|
| Colon Leiomyosarcoma |
|
|
| Alveolar Soft Part Sarcoma |
|
|
| Endometrial Adenocarcinoma |
|
|
| Urethral Benign Neoplasm |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Ovarian Serous Cystadenofibroma |
|
|
| Ovarian Cystadenocarcinoma |
|
|
| Malignant Ovarian Surface Epithelial-Stromal Neoplasm |
|
|
| Epithelioid Cell Synovial Sarcoma |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Lymphohistiocytoid Mesothelioma |
|
|
| Ovarian Serous Adenofibroma |
|
|
| Papillary Adenofibroma |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Fallopian Tube Endometrioid Adenocarcinoma |
|
|
| Subacute Lymphocytic Thyroiditis |
|
|
| Ovarian Serous Cystadenocarcinoma |
|
|
| Wilms Tumor 1 |
|
|
| Renal Hypodysplasia/Aplasia 1 |
|
|
| Cervix Carcinoma |
|
|
| Cakut |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | PAX8 | MGD | MGI:97492 |
| Bos taurus | PAX8 | VGNC | VGNC:32599 |
| Canis familiaris | PAX8 | VGNC | VGNC:44279 |
| Rattus norvegicus | PAX8 | RGD | RGD:620434 |
| Felis catus | PAX8 | VGNC | VGNC:68702 |
| Macaca mulatta | PAX8 | VGNC | VGNC:75767 |
| Others | PAX8 | NCBI |