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PAX8

GENERAL INFORMATION

Gene name

 PAX8

Gene description

 Paired box 8

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 9
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (thyroid gland)
GTEx:Group enriched (kidney, thyroid gland)
FANTOM5:Group enriched (kidney, thyroid gland)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (thyroid gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, thyroid gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, thyroid gland)

GENE INFORMATION

Gene name

 PAX8

Synonyms

Description

 Paired box 8 (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 q14.1

Chromosome location (bp)

 113215997 - 113278950

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000125618 (version 83.38)

Entrez gene

 7849

UniProt

 Q06710 (UniProt - Evidence at protein level)

neXtProt

 NX_Q06710

Antibodypedia

 PAX8 antibodies

PROTEIN BROWSER
PAX8-001
PAX8-002
PAX8-003
PAX8-004
PAX8-006
PAX8-008
PAX8-009
PAX8-012
PAX8-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PAX8-001
ENSP00000395498
ENST00000429538
Q06710 [Direct mapping]
Paired box protein Pax-8
R9W7C9 [Target identity:100%; Query identity:100%]
Paired box 8 transcript variant F; Paired box gene 8, isoform CRA_a
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0001655 [urogenital system development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001822 [kidney development]
GO:0001823 [mesonephros development]
GO:0003337 [mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004996 [thyroid-stimulating hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007417 [central nervous system development]
GO:0009653 [anatomical structure morphogenesis]
GO:0030878 [thyroid gland development]
GO:0038194 [thyroid-stimulating hormone signaling pathway]
GO:0039003 [pronephric field specification]
GO:0042472 [inner ear morphogenesis]
GO:0042981 [regulation of apoptotic process]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048793 [pronephros development]
GO:0071371 [cellular response to gonadotropin stimulus]
GO:0071599 [otic vesicle development]
GO:0072108 [positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0072207 [metanephric epithelium development]
GO:0072221 [metanephric distal convoluted tubule development]
GO:0072278 [metanephric comma-shaped body morphogenesis]
GO:0072284 [metanephric S-shaped body morphogenesis]
GO:0072289 [metanephric nephron tubule formation]
GO:0072305 [negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis]
GO:0072307 [regulation of metanephric nephron tubule epithelial cell differentiation]
GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis]
GO:1900212 [negative regulation of mesenchymal cell apoptotic process involved in metanephros development]
GO:1900215 [negative regulation of apoptotic process involved in metanephric collecting duct development]
GO:1900218 [negative regulation of apoptotic process involved in metanephric nephron tubule development]
GO:2000594 [positive regulation of metanephric DCT cell differentiation]
GO:2000611 [positive regulation of thyroid hormone generation]
GO:2000612 [regulation of thyroid-stimulating hormone secretion]
Show all
 450 aa
48.2 kDa 		No 0
PAX8-002
ENSP00000263335
ENST00000263335
Q06710 [Direct mapping]
Paired box protein Pax-8
A0A024R4X8 [Target identity:100%; Query identity:100%]
Paired box gene 8, isoform CRA_c
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0001655 [urogenital system development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001822 [kidney development]
GO:0001823 [mesonephros development]
GO:0003337 [mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004996 [thyroid-stimulating hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007417 [central nervous system development]
GO:0009653 [anatomical structure morphogenesis]
GO:0030878 [thyroid gland development]
GO:0038194 [thyroid-stimulating hormone signaling pathway]
GO:0039003 [pronephric field specification]
GO:0042472 [inner ear morphogenesis]
GO:0042981 [regulation of apoptotic process]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048793 [pronephros development]
GO:0071371 [cellular response to gonadotropin stimulus]
GO:0071599 [otic vesicle development]
GO:0072108 [positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0072207 [metanephric epithelium development]
GO:0072221 [metanephric distal convoluted tubule development]
GO:0072278 [metanephric comma-shaped body morphogenesis]
GO:0072284 [metanephric S-shaped body morphogenesis]
GO:0072289 [metanephric nephron tubule formation]
GO:0072305 [negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis]
GO:0072307 [regulation of metanephric nephron tubule epithelial cell differentiation]
GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis]
GO:1900212 [negative regulation of mesenchymal cell apoptotic process involved in metanephros development]
GO:1900215 [negative regulation of apoptotic process involved in metanephric collecting duct development]
GO:1900218 [negative regulation of apoptotic process involved in metanephric nephron tubule development]
GO:2000594 [positive regulation of metanephric DCT cell differentiation]
GO:2000611 [positive regulation of thyroid hormone generation]
GO:2000612 [regulation of thyroid-stimulating hormone secretion]
Show all
 321 aa
34.9 kDa 		No 0
PAX8-003
ENSP00000380768
ENST00000397647
Q06710 [Direct mapping]
Paired box protein Pax-8
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0001655 [urogenital system development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001822 [kidney development]
GO:0001823 [mesonephros development]
GO:0003337 [mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004996 [thyroid-stimulating hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007417 [central nervous system development]
GO:0009653 [anatomical structure morphogenesis]
GO:0030878 [thyroid gland development]
GO:0038194 [thyroid-stimulating hormone signaling pathway]
GO:0039003 [pronephric field specification]
GO:0042472 [inner ear morphogenesis]
GO:0042981 [regulation of apoptotic process]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048793 [pronephros development]
GO:0071371 [cellular response to gonadotropin stimulus]
GO:0071599 [otic vesicle development]
GO:0072108 [positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0072207 [metanephric epithelium development]
GO:0072221 [metanephric distal convoluted tubule development]
GO:0072278 [metanephric comma-shaped body morphogenesis]
GO:0072284 [metanephric S-shaped body morphogenesis]
GO:0072289 [metanephric nephron tubule formation]
GO:0072305 [negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis]
GO:0072307 [regulation of metanephric nephron tubule epithelial cell differentiation]
GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis]
GO:1900212 [negative regulation of mesenchymal cell apoptotic process involved in metanephros development]
GO:1900215 [negative regulation of apoptotic process involved in metanephric collecting duct development]
GO:1900218 [negative regulation of apoptotic process involved in metanephric nephron tubule development]
GO:2000594 [positive regulation of metanephric DCT cell differentiation]
GO:2000611 [positive regulation of thyroid hormone generation]
GO:2000612 [regulation of thyroid-stimulating hormone secretion]
Show all
 287 aa
31 kDa 		No 0
PAX8-004
ENSP00000314750
ENST00000348715
Q06710 [Direct mapping]
Paired box protein Pax-8
A0A024R524 [Target identity:100%; Query identity:100%]
Paired box gene 8, isoform CRA_d
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0001655 [urogenital system development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001822 [kidney development]
GO:0001823 [mesonephros development]
GO:0003337 [mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004996 [thyroid-stimulating hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007417 [central nervous system development]
GO:0009653 [anatomical structure morphogenesis]
GO:0030878 [thyroid gland development]
GO:0038194 [thyroid-stimulating hormone signaling pathway]
GO:0039003 [pronephric field specification]
GO:0042472 [inner ear morphogenesis]
GO:0042981 [regulation of apoptotic process]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048793 [pronephros development]
GO:0071371 [cellular response to gonadotropin stimulus]
GO:0071599 [otic vesicle development]
GO:0072108 [positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0072207 [metanephric epithelium development]
GO:0072221 [metanephric distal convoluted tubule development]
GO:0072278 [metanephric comma-shaped body morphogenesis]
GO:0072284 [metanephric S-shaped body morphogenesis]
GO:0072289 [metanephric nephron tubule formation]
GO:0072305 [negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis]
GO:0072307 [regulation of metanephric nephron tubule epithelial cell differentiation]
GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis]
GO:1900212 [negative regulation of mesenchymal cell apoptotic process involved in metanephros development]
GO:1900215 [negative regulation of apoptotic process involved in metanephric collecting duct development]
GO:1900218 [negative regulation of apoptotic process involved in metanephric nephron tubule development]
GO:2000594 [positive regulation of metanephric DCT cell differentiation]
GO:2000611 [positive regulation of thyroid hormone generation]
GO:2000612 [regulation of thyroid-stimulating hormone secretion]
Show all
 398 aa
43 kDa 		No 0
PAX8-006
ENSP00000451240
ENST00000468980
H0YJD1 [Direct mapping]
Paired box protein Pax-8
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Show all
 173 aa
18.5 kDa 		No 0
PAX8-008
ENSP00000451618
ENST00000497038
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Show all
 85 aa
8.9 kDa 		No 0
PAX8-009
ENSP00000452547
ENST00000465084
H0YJZ5 [Direct mapping]
Paired box protein Pax-8
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Show all
 98 aa
9.9 kDa 		No 0
PAX8-012
ENSP00000451213
ENST00000554830
G3V3F3 [Direct mapping]
Paired box protein Pax-8
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Show all
 116 aa
12.5 kDa 		No 0
PAX8-201
ENSP00000263334
ENST00000263334
Q06710 [Direct mapping]
Paired box protein Pax-8
R9W7C9 [Target identity:100%; Query identity:100%]
Paired box 8 transcript variant F; Paired box gene 8, isoform CRA_a
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001655 [urogenital system development]
GO:0001656 [metanephros development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001822 [kidney development]
GO:0001823 [mesonephros development]
GO:0003337 [mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004996 [thyroid-stimulating hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006790 [sulfur compound metabolic process]
GO:0007417 [central nervous system development]
GO:0009653 [anatomical structure morphogenesis]
GO:0030154 [cell differentiation]
GO:0030878 [thyroid gland development]
GO:0038194 [thyroid-stimulating hormone signaling pathway]
GO:0039003 [pronephric field specification]
GO:0042472 [inner ear morphogenesis]
GO:0042981 [regulation of apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048793 [pronephros development]
GO:0071371 [cellular response to gonadotropin stimulus]
GO:0071599 [otic vesicle development]
GO:0072050 [S-shaped body morphogenesis]
GO:0072073 [kidney epithelium development]
GO:0072108 [positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis]
GO:0072164 [mesonephric tubule development]
GO:0072207 [metanephric epithelium development]
GO:0072221 [metanephric distal convoluted tubule development]
GO:0072278 [metanephric comma-shaped body morphogenesis]
GO:0072284 [metanephric S-shaped body morphogenesis]
GO:0072289 [metanephric nephron tubule formation]
GO:0072305 [negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis]
GO:0072307 [regulation of metanephric nephron tubule epithelial cell differentiation]
GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis]
GO:1900212 [negative regulation of mesenchymal cell apoptotic process involved in metanephros development]
GO:1900215 [negative regulation of apoptotic process involved in metanephric collecting duct development]
GO:1900218 [negative regulation of apoptotic process involved in metanephric nephron tubule development]
GO:2000594 [positive regulation of metanephric DCT cell differentiation]
GO:2000611 [positive regulation of thyroid hormone generation]
GO:2000612 [regulation of thyroid-stimulating hormone secretion]
Show all
 450 aa
48.2 kDa 		No 0

Contact

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The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.