PAX8 (paired box 8)

Gene Basic Information

Gene Basic Information

symbol
PAX8
locus group
protein-coding gene
location
2q14.1
gene_family
PRD class homeoboxes and pseudogenes|Paired boxes
alias symbol
PAX-8
alias name
None
entrez id
7849
ensembl gene id
ENSG00000125618
ucsc gene id
uc010yxt.3
refseq accession
NM_003466
hgnc_id
HGNC:8622
approved reserved
1998-11-16

Chromosome Location

Chromosome Location

2q14.1

Gene Summary

Gene Summary

ChineseEnglish

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]

OMIM entry for PAX8     Wikipedia entry for PAX8

Gene Sequence

Gene Sequence

Nucleotide sequence of PAX8:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ
41GVRPCDISRQ LRVSHGCVSK ILGRYYETGS IRPGVIGGSK
81 PKVATPKVV EKIGDYKRQN PTMFAWEIRD RLLAEGVCDN
121DTVPSVSSIN RIIRTKVQQP FNLPMDSCVA TKSLSPGHTL
161I PSSAVTPP ESPQSDSLGS TYSINGLLGI AQPGSDKRKM
201DDSDQDSCRL SIDSQSSSSG PRKHLRTDAF SQHHLEPLEC
241PF ERQHYPE AYASPSHTKG EQGLYPLPLL NSTLDDGKAT
281LTPSNTPLGR NLSTHQTYPV VADPHSPFAI KQETPEVSSS
321SST PSSLSS SAFLDLQQVG SGVPPFNAFP HAASVYGQFT
361GQALLSGREM VGPTLPGYPP HIPTSGQGSY ASSAIAGMVA
401GSEY SGNAY GHTPYSSYSE AWRFPNSSLL SSPYYYSSTS
441RPSAPPTTAT AFDHL
Structure predicted by AlphaFold DB(UniProt: Q06710). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of PAX8:           Showing partial SNPs
rs708633       rs745912       rs877201       rs877202       rs895411       rs895414       rs895415       rs895416       rs895417       rs895418       rs895419       rs902691       rs935365       rs1021409       rs1110839       rs1139015       rs1374163      

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
ATCCTTGGCAGGTACTACG
59
ATCTTCTCCACCACCTTGG
59
ATTGACTCACAGAGCAGCA
59
GTATTCACTTCCTGCTCGC
59
ATCCTTGGCAGGTACTACG
59
ATCTTCTCCACCACCTTGG
59
CAACCTCTCGACTCACCAG
60
CAGAGTATTCACTTCCTGCCA
60
TACTCCTCCTACAGCGAGG
60
CTACAGATGGTCAAAGGCC
58
TTTGGATCTGCAGCAAGTC
59
AGTATTCACTTCCTGCCAC
57
ATCCTTGGCAGGTACTACG
59
ATCTTCTCCACCACCTTGG
59
GAAGTATTGGAGCAAGGAAGTG
59
TCGCTGTAGGAGGAGTAGG
60
TCCACCTACTCCATCAATGG
59
ATCCTGATCACTGTCATCCA
58
ATCCTTGGCAGGTACTACG
59
ATCTTCTCCACCACCTTGG
59

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
EZH2
PAX8
Unknown
21289264
PAX8
E2F1
Activation
21602887
PAX8
NCAM1
Activation
8071351
PAX8
SLC3A1
Activation
15673291
PAX8
SLC5A5
Activation
14630715; 17614769
PAX8
TG
Repression
17614769
PAX8
TP53
Repression
8521821
PAX8
TSHR
Repression
17614769
PAX8
WT1
Activation
15961562; 8861958

Gene Ontology

Subcellular localization of PAX8 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for PAX8:

GO ID
Protein
Source DB
GO:0000978
Q06710 (UniProtKB)
IEA
GO:0000979
Q06710 (UniProtKB)
IDA
GO:0001077
Q06710 (UniProtKB)
IEA
GO:0001655
Q06710 (UniProtKB)
ISS
GO:0001658
Q06710 (UniProtKB)
IEP
GO:0001822
Q06710 (UniProtKB)
IEP
GO:0001823
Q06710 (UniProtKB)
ISS
GO:0003337
Q06710 (UniProtKB)
IEP
GO:0003677
Q06710 (UniProtKB)
IDA
GO:0003677
Q06710 (UniProtKB)
IDA
GO:0003677
Q06710 (UniProtKB)
IMP
GO:0003700
Q06710 (UniProtKB)
IDA
GO:0003700
Q06710 (UniProtKB)
IDA
GO:0004996
Q06710 (UniProtKB)
TAS
GO:0005515
Q06710 (UniProtKB)
IPI
GO:0005515
Q06710 (UniProtKB)
IPI
GO:0005515
Q06710 (UniProtKB)
IPI
GO:0005634
Q06710 (UniProtKB)
IDA
GO:0005634
Q06710 (UniProtKB)
IDA
GO:0005634
Q06710 (UniProtKB)
IDA
GO:0005654
Q06710 (UniProtKB)
ISS
GO:0005654
Q06710 (UniProtKB)
IDA
GO:0006351
Q06710 (UniProtKB)
IDA
GO:0006351
Q06710 (UniProtKB)
IDA
GO:0006351
Q06710 (UniProtKB)
IDA
GO:0006366
Q06710 (UniProtKB)
IEA
GO:0006790
Q06710 (UniProtKB)
IEA
GO:0007417
Q06710 (UniProtKB)
IEP
GO:0009653
Q06710 (UniProtKB)
TAS
GO:0030878
Q06710 (UniProtKB)
IEP
GO:0030878
Q06710 (UniProtKB)
IEP
GO:0030878
Q06710 (UniProtKB)
IMP
GO:0038194
Q06710 (UniProtKB)
IEA
GO:0039003
Q06710 (UniProtKB)
ISS
GO:0042472
Q06710 (UniProtKB)
ISS
GO:0042981
Q06710 (UniProtKB)
ISS
GO:0044212
Q06710 (UniProtKB)
IDA
GO:0045893
Q06710 (UniProtKB)
ISS
GO:0045893
Q06710 (UniProtKB)
IDA
GO:0045893
Q06710 (UniProtKB)
IDA
GO:0045893
Q06710 (UniProtKB)
IDA
GO:0045893
Q06710 (UniProtKB)
IDA
GO:0045893
Q06710 (UniProtKB)
IDA
GO:0045893
Q06710 (UniProtKB)
IDA
GO:0045944
Q06710 (UniProtKB)
IDA
GO:0048793
Q06710 (UniProtKB)
ISS
GO:0071371
Q06710 (UniProtKB)
IDA
GO:0071599
Q06710 (UniProtKB)
IEP
GO:0072108
Q06710 (UniProtKB)
ISS
GO:0072207
Q06710 (UniProtKB)
IEP
GO:0072221
Q06710 (UniProtKB)
ISS
GO:0072278
Q06710 (UniProtKB)
IEP
GO:0072284
Q06710 (UniProtKB)
IEP
GO:0072289
Q06710 (UniProtKB)
ISS
GO:0072305
Q06710 (UniProtKB)
ISS
GO:0072307
Q06710 (UniProtKB)
ISS
GO:0090190
Q06710 (UniProtKB)
ISS
GO:1900212
Q06710 (UniProtKB)
ISS
GO:1900215
Q06710 (UniProtKB)
ISS
GO:1900218
Q06710 (UniProtKB)
ISS
GO:2000594
Q06710 (UniProtKB)
ISS
GO:2000611
Q06710 (UniProtKB)
IMP
GO:2000612
Q06710 (UniProtKB)
IMP

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 0.32 3 0 CTD_human_MGD_UNIPROT
Papillary thyroid carcinoma 0.122985861 11 0 BeFree_ORPHANET
Thyroid Hypoplasia 0.122171535 8 1 BeFree_ORPHANET
Colorectal Neoplasms 0.120271442 1 0 BeFree_CTD_human
Thyroid cancer, follicular 0.12 1 0 CTD_human
Congenital Hypothyroidism 0.013430135 22 1 BeFree_GAD_LHGDN
Thyroid Neoplasm 0.011430353 15 0 BeFree_LHGDN
Adenoma 0.010616028 10 0 BeFree_LHGDN
Follicular thyroid carcinoma 0.00868614 32 0 BeFree
Thyroid Dysgenesis 0.007338862 18 0 BeFree_LHGDN

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