PAX8 paired box 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAX8provided by HGNC
Official Full Name: paired box 8provided by HGNC
Primary source: HGNC:HGNC:8622
See related: Ensembl:ENSG00000125618 MIM:167415; AllianceGenome:HGNC:8622
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
Also known as: PAX-8
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]
Expression: Biased expression in thyroid (RPKM 261.2) and kidney (RPKM 40.3) See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q14.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (113215997..113278921, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (113642573..113705473, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (113973574..114036498, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia.
Title: Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia.
Evaluation of Lineage/Site-specific Nuclear Immunohistochemical Markers SATB2, Cyclin D1, SALL4, and BCOR in High-grade Endometrial Carcinomas.
Title: Evaluation of Lineage/Site-specific Nuclear Immunohistochemical Markers SATB2, Cyclin D1, SALL4, and BCOR in High-grade Endometrial Carcinomas.
Two Cases of Biphasic Synovial Sarcoma With Expression of PAX8 and ER: A Diagnostic Pitfall.
Title: Two Cases of Biphasic Synovial Sarcoma With Expression of PAX8 and ER: A Diagnostic Pitfall.
Significance analysis of PAX8 expression in endometrial carcinoma.
Title: Significance analysis of PAX8 expression in endometrial carcinoma.
The utility of PAX8 in comparison with PAX5 immunohistochemical staining in the diagnosis of Hodgkin lymphoma.
Title: The utility of PAX8 in comparison with PAX5 immunohistochemical staining in the diagnosis of Hodgkin lymphoma.
Oncogenic Signaling in Kidney Cancer Requires Renal Lineage Factor PAX8.
Title: Oncogenic Signaling in Kidney Cancer Requires Renal Lineage Factor PAX8.
The renal lineage factor PAX8 controls oncogenic signalling in kidney cancer.
Title: The renal lineage factor PAX8 controls oncogenic signalling in kidney cancer.
Unusual staining of immunohistochemical markers PAX8 and CDX2 in breast carcinoma: a potential diagnostic pitfall.
Title: Unusual staining of immunohistochemical markers PAX8 and CDX2 in breast carcinoma: a potential diagnostic pitfall.
SOX17 and PAX8 constitute an actionable lineage-survival transcriptional complex in ovarian cancer.
Title: SOX17 and PAX8 constitute an actionable lineage-survival transcriptional complex in ovarian cancer.
A combination of immunohistochemical markers, MUC1, MUC5AC, PAX8 and growth pattern for characterization of mucinous neoplasm of the ovary.
Title: A combination of immunohistochemical markers, MUC1, MUC5AC, PAX8 and growth pattern for characterization of mucinous neoplasm of the ovary.

Submit: New GeneRIF Correction See all GeneRIFs (208)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypothyroidism, congenital, nongoitrous, 2 MedGen: C1869118 OMIM: 218700 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2021-11-09) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-11-09) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH45733 (e-PCR)
- UniSTS:79616

PAX8__1200 (e-PCR)
- UniSTS:277556

PAX8__v328 (e-PCR)
- UniSTS:277556

WI-19770 (e-PCR)
- UniSTS:28488

RH94024 (e-PCR)
- UniSTS:89437

RH79182 (e-PCR)
- UniSTS:31336

D11Bir2 (e-PCR), detects polymorphism
- UniSTS:141710

RH80705 (e-PCR)
- UniSTS:85135

SHGC-52928 (e-PCR)
- UniSTS:64915

D2S1597E (e-PCR)
- UniSTS:150681

D2S1963 (e-PCR)
- UniSTS:67546

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables thyroid-stimulating hormone receptor activity	TAS Traceable Author Statement more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

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

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: paired box protein Pax-8

Names: paired domain gene 8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_003466.4 → NP_003457.1 paired box protein Pax-8 isoform PAX8A

See identical proteins and their annotated locations for NP_003457.1

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, Q09155, Q16337, Q16338, Q16339, Q4ZG35, Q96J49

UniProtKB/TrEMBL

A0A024R4X3, A0A7P0T907, R9W7C9

Related

ENSP00000395498.3, ENST00000429538.8

Conserved Domains (2) summary

smart00351
Location:9 → 133

PAX; Paired Box domain

pfam12403
Location:337 → 448

Pax2_C; Paired-box protein 2 C terminal
NM_013952.4 → NP_039246.1 paired box protein Pax-8 isoform PAX8C

See identical proteins and their annotated locations for NP_039246.1

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

Related

ENSP00000314750.5, ENST00000348715.9

Conserved Domains (1) summary

smart00351
Location:9 → 133

PAX; Paired Box domain
NM_013953.4 → NP_039247.1 paired box protein Pax-8 isoform PAX8D

See identical proteins and their annotated locations for NP_039247.1

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

Related

ENSP00000263335.7, ENST00000263335.11

Conserved Domains (1) summary

smart00351
Location:9 → 133

PAX; Paired Box domain
NM_013992.4 → NP_054698.1 paired box protein Pax-8 isoform PAX8E

See identical proteins and their annotated locations for NP_054698.1

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

ENSP00000380768.3, ENST00000397647.7

Conserved Domains (1) summary

smart00351
Location:9 → 133

PAX; Paired Box domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

113215997..113278921 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

113642573..113705473 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.