PAX8 paired box 8 [Homo sapiens] - Gene

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Summary

Official Symbol: PAX8provided by HGNC
Official Full Name: paired box 8provided by HGNC
Primary source: HGNC:8622
See related: Ensembl:ENSG00000125618; HPRD:01335; MIM:167415; Vega:OTTHUMG00000128529
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]

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Genomic context

Location :: 2q13

Sequence :: Chromosome: 2; NC_000002.11 (113973574..114036498, complement)

See PAX8 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

our data indicate that PAX8 is not expressed in benign or malignant B-cells
Title: N-terminal PAX8 polyclonal antibody shows cross-reactivity with N-terminal region of PAX5 and is responsible for reports of PAX8 positivity in malignant lymphomas.
Diagnostic utility of PAX8, TTF-1 and napsin A for discriminating metastatic carcinoma from primary adenocarcinoma of the lung.
Title: Diagnostic utility of PAX8, TTF-1 and napsin A for discriminating metastatic carcinoma from primary adenocarcinoma of the lung.
PAX8 is expressed in the majority of renal epithelial neoplasms and is a valuable marker for nephric neoplasms.
Title: PAX8 is expressed in the majority of renal epithelial neoplasms: an immunohistochemical study of 223 cases using a mouse monoclonal antibody.
PAX8 and WT1 had comparable overall detection rates in confirming ovarian origin of malignant effusion.
Title: Value of PAX8 and WT1 Immunostaining in Confirming the Ovarian Origin of Metastatic Carcinoma in Serous Effusion Specimens.
Pax8 is not expressed in the pancreas and cast doubts on the value of Pax8 as a pancreatic neuroendocrine tumor marker.
Title: Immunohistochemical assessment of Pax8 expression during pancreatic islet development and in human neuroendocrine tumors.
PAX 8 overexpression correlates with p53 expression and high-grade endometrial carcinomas but seems not to be useful as a prognostic parameter.
Title: Immunoexpression of PAX 8 in endometrial cancer: relation to high-grade carcinoma and p53.
results suggest that, in cancer, frequent and persistent expression of PAX8 is required for cell growth control through transcriptional activation of E2F1 expression and upregulation of the RB-E2F1 pathway
Title: PAX8 promotes tumor cell growth by transcriptionally regulating E2F1 and stabilizing RB protein.
PAX8 expression is often retained in anaplastic thyroid carcinomas including the squamoid variant, but it is not expressed in head and neck squamous cancers.
Title: PAX8 immunostaining of anaplastic thyroid carcinoma: a reliable means of discerning thyroid origin for undifferentiated tumors of the head and neck.
PAX8 supersedes PAX2 as probably the best epithelial marker hitherto for primary or metastatic mullerian epithelial tumors.
Title: PAX2 and PAX8 expression in primary and metastatic müllerian epithelial tumors: a comprehensive comparison.
our findings suggest that PAX8 is an additional marker for carcinomas of Mullerian origin
Title: Pax8: a marker for carcinoma of Müllerian origin in serous effusions.

Submit: New GeneRIF Correction See all (66)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia

MIM: 218700

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Products	Interactant	Other Gene	Source	Pubs	Description
Q06710	Q09472	EP300	HPRD	PubMed
Q06710	Q02363	ID2	HPRD	PubMed
Q06710	P43699	NKX2-1	HPRD	PubMed
Q06710	P84022	SMAD3	HPRD	PubMed
Q06710	Q969T9	WBP2	HPRD	PubMed
BioGRID:113604	BioGRID:112936	NKX2-1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113604	BioGRID:111446	POU2AF1	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
RNA polymerase II core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
thyroid-stimulating hormone receptor activity	TAS Traceable Author Statement more info	PubMed
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
branching involved in ureteric bud morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
cell differentiation	IEA Inferred from Electronic Annotation more info
cellular response to gonadotropin stimulus	IDA Inferred from Direct Assay more info	PubMed
central nervous system development	IEP Inferred from Expression Pattern more info	PubMed
inner ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
kidney development	IEP Inferred from Expression Pattern more info	PubMed
mesenchymal to epithelial transition involved in metanephros morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
mesonephric tubule development	IEA Inferred from Electronic Annotation more info
mesonephros development	ISS Inferred from Sequence or Structural Similarity more info
metanephric S-shaped body morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
metanephric collecting duct development	ISS Inferred from Sequence or Structural Similarity more info
metanephric comma-shaped body morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
metanephric distal convoluted tubule development	ISS Inferred from Sequence or Structural Similarity more info
metanephric epithelium development	IEP Inferred from Expression Pattern more info	PubMed
metanephric nephron tubule formation	ISS Inferred from Sequence or Structural Similarity more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
otic vesicle development	IEP Inferred from Expression Pattern more info	PubMed
positive regulation of branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of metanephric DCT cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of thyroid hormone generation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	ISS Inferred from Sequence or Structural Similarity more info
pronephric field specification	ISS Inferred from Sequence or Structural Similarity more info
pronephros development	ISS Inferred from Sequence or Structural Similarity more info
regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
regulation of metanephric nephron tubule epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
regulation of thyroid-stimulating hormone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
thyroid gland development	IEP Inferred from Expression Pattern more info	PubMed
thyroid gland development	IMP Inferred from Mutant Phenotype more info	PubMed
transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
urogenital system development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: paired box protein Pax-8

Names: paired box protein Pax-8; paired domain gene 8

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012384.1 RefSeqGene

Range

5001..67925

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003466.3 → NP_003457.1 paired box protein Pax-8 isoform PAX8A

Status: REVIEWED

Description

Transcript Variant: This variant (PAX8A) represents the longest transcript and encodes the longest isoform (PAX8A).

Source sequence(s)

AC016683, AU141429, BC001060, BM726535

Consensus CDS

CCDS46398.1

UniProtKB/Swiss-Prot

Q06710

Related

ENSP00000395498, OTTHUMP00000203723, ENST00000429538, OTTHUMT00000250353

Conserved Domains (3) summary

cd00131
Location:9 – 135
Blast Score: 590

PAX; Paired Box domain

smart00351
Location:9 – 133
Blast Score: 646

PAX; Paired Box domain

pfam12403
Location:334 – 421
Blast Score: 338

Pax2_C; Paired-box protein 2 C terminal
NM_013952.3 → NP_039246.1 paired box protein Pax-8 isoform PAX8C

Status: REVIEWED

Description

Transcript Variant: This variant (PAX8C) uses an alternate splice site in the 3' coding region, compared to variant PAX8A, that results in a frameshift and an early stop codon. It encodes isoform PAX8C which has a shorter and distinct C-terminus compared to isoform PAX8A.

Source sequence(s)

AC016683, AU141429, BC001060, BM726535, S77904

Consensus CDS

CCDS46399.1

UniProtKB/Swiss-Prot

Q06710

Related

ENSP00000314750, OTTHUMP00000203724, ENST00000348715, OTTHUMT00000250356

Conserved Domains (2) summary

cd00131
Location:9 – 135
Blast Score: 576

PAX; Paired Box domain

smart00351
Location:9 – 133
Blast Score: 631

PAX; Paired Box domain
NM_013953.3 → NP_039247.1 paired box protein Pax-8 isoform PAX8D

Status: REVIEWED

Description

Transcript Variant: This variant (PAX8D) lacks two alternate exons, compared to variant PAX8A, that results in a frameshift and an early stop codon. The encoded isoform (PAX8D) is shorter and has a distinct C-terminus compared to isoform PAX8A.

Source sequence(s)

AC016683, AU141429, BC001060, BM726535, S77905

Consensus CDS

CCDS42736.1

UniProtKB/Swiss-Prot

Q06710

Related

ENSP00000263335, OTTHUMP00000158659, ENST00000263335, OTTHUMT00000250354

Conserved Domains (2) summary

cd00131
Location:9 – 135
Blast Score: 574

PAX; Paired Box domain

smart00351
Location:9 – 133
Blast Score: 628

PAX; Paired Box domain
NM_013992.3 → NP_054698.1 paired box protein Pax-8 isoform PAX8E

Status: REVIEWED

Description

Transcript Variant: This variant (PAX8E) lacks three alternate exons, compared to variant PAX8A, that results in a frameshift and an early stop codon. The encoded isoform (PAX8E) is shorter and has a distinct C-terminus compared to isoform PAX8A.

Source sequence(s)

AC016683, AU141429, BC001060, BM726535, S77906

Consensus CDS

CCDS42735.1

UniProtKB/Swiss-Prot

Q06710

Related

ENSP00000380768, OTTHUMP00000158660, ENST00000397647, OTTHUMT00000250355

Conserved Domains (2) summary

cd00131
Location:9 – 135
Blast Score: 572

PAX; Paired Box domain

smart00351
Location:9 – 133
Blast Score: 623

PAX; Paired Box domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

113973574..114036498, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

106427614..106522962, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_013951.3: Suppressed sequence

Description

NM_013951.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC016683.7	AAX88880.1
genomic	CH471217.1	EAW73629.1
		EAW73630.1
		EAW73631.1
		EAW73632.1
		EAW73633.1
		EAW73634.1
		EAW73635.1
		EAW73636.1
		EAW73637.1
		EAW73638.1
		EAW73639.1
genomic	FJ695202.1	None
genomic	X99590.1	CAA67903.1
mRNA	AK023855.1	None
mRNA	AK225538.1	None
mRNA	AK292191.1	BAF84880.1
mRNA	AK307173.1	None
mRNA	AK309154.1	None
mRNA	AU141429.1	None
mRNA	BC001060.2	AAH01060.1
mRNA	BG398792.1	None
mRNA	BM726535.1	None
mRNA	CR936798.1	None
mRNA	L19606.1	AAA03539.1
mRNA	S77904.1	AAB34216.1
mRNA	S77905.1	AAB34217.2
mRNA	S77906.2	AAB34218.2
mRNA	X69699.1	None
other-genetic	DQ892280.2	ABM83206.1
other-genetic	DQ895480.2	ABM86406.1