PAX8

Functionⁱ

Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	9 – 135	PairedPROSITE-ProRule annotationAdd BLAST		127

GO - Molecular functionⁱ

DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- "Expression, regulation, and function of paired-box gene 8 in the human placenta and placental cancer cell lines."
  Ferretti E., Arturi F., Mattei T., Scipioni A., Tell G., Tosi E., Presta I., Morisi R., Lacroix L., Gulino A., Russo D., Damante G., Filetti S.
  Endocrinology 146:4009-4015(2005) [PubMed] [Europe PMC] [Abstract]
- "PAX8-mediated activation of the wt1 tumor suppressor gene."
  Dehbi M., Pelletier J.
  EMBO J. 15:4297-4306(1996) [PubMed] [Europe PMC] [Abstract]
DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
DNA-binding transcription factor activity
Source: UniProtKB
Inferred from direct assayⁱ
- "PAX 8 regulates human WT1 transcription through a novel DNA binding site."
  Fraizer G.C., Shimamura R., Zhang X., Saunders G.F.
  J. Biol. Chem. 272:30678-30687(1997) [PubMed] [Europe PMC] [Abstract]
- Ref.9
  "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis."
  Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A., Busslinger M., Di Lauro R.
  Nat. Genet. 19:83-86(1998) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
RNA polymerase II cis-regulatory region sequence-specific DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- "PAX 8 regulates human WT1 transcription through a novel DNA binding site."
  Fraizer G.C., Shimamura R., Zhang X., Saunders G.F.
  J. Biol. Chem. 272:30678-30687(1997) [PubMed] [Europe PMC] [Abstract]
thyroid-stimulating hormone receptor activity
Source: ProtInc
Traceable author statementⁱ
- Ref.9
  "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis."
  Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A., Busslinger M., Di Lauro R.
  Nat. Genet. 19:83-86(1998) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
transcription regulatory region sequence-specific DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- "Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid."
  Meeus L., Gilbert B., Rydlewski C., Parma J., Roussie A.L., Abramowicz M., Vilain C., Christophe D., Costagliola S., Vassart G.
  J. Clin. Endocrinol. Metab. 89:4285-4291(2004) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding
Biological process	Differentiation, Transcription, Transcription regulation

Enzyme and pathway databases

PathwayCommonsⁱ	Q06710
SIGNORⁱ	Q06710

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Paired box protein Pax-8
Gene namesⁱ	Name:PAX8
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000125618.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:8622, PAX8
MIMⁱ	167415, gene
neXtProtⁱ	NX_Q06710

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_012769	31	R → H in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893657EnsemblClinVar.	1
Natural variantⁱVAR_012770	40	Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893656EnsemblClinVar.	1
Natural variantⁱVAR_012771	57	C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893659EnsemblClinVar.	1
Natural variantⁱVAR_012772	62	L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893658EnsemblClinVar.	1

Keywords - Diseaseⁱ

Congenital hypothyroidism, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7849
MalaCards human disease database More...MalaCardsⁱ	PAX8
MIMⁱ	218700, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000125618
Orphanetⁱ	95713, Athyreosis 146, Differentiated thyroid carcinoma 95712, Thyroid ectopia 95720, Thyroid hypoplasia
PharmGKBⁱ	PA32962

Miscellaneous databases

Pharosⁱ	Q06710, Tbio

Pharosⁱ

Q06710, Tbio

Chemistry databases

ChEMBLⁱ	CHEMBL2362980

ChEMBLⁱ

CHEMBL2362980

Polymorphism and mutation databases

BioMutaⁱ	PAX8
DMDMⁱ	215273928

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000050197	1 – 450	Paired box protein Pax-8Add BLAST		450

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	303	PhosphoserineBy similarity		1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

MassIVEⁱ	Q06710
PaxDbⁱ	Q06710
PeptideAtlas More...PeptideAtlasⁱ	Q06710
PRIDEⁱ	Q06710
ProteomicsDBⁱ	58470 [Q06710-1] 58471 [Q06710-2] 58472 [Q06710-3] 58473 [Q06710-4] 58474 [Q06710-5]

PTM databases

iPTMnetⁱ	Q06710
PhosphoSitePlusⁱ	Q06710

Expressionⁱ

Tissue specificityⁱ

Expressed in the excretory system, thyroid gland and Wilms tumors.

Developmental stageⁱ

In developing excretory system, during thyroid differentiation and in adult thyroid.

Gene expression databases

Bgeeⁱ	ENSG00000125618, Expressed in right lobe of thyroid gland and 228 other tissues
ExpressionAtlasⁱ	Q06710, baseline and differential
Genevisibleⁱ	Q06710, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000125618, Group enriched (kidney, thyroid gland)

HPAⁱ

ENSG00000125618, Group enriched (kidney, thyroid gland)

Interactionⁱ

Subunit structureⁱ

Interacts with WWTR1.

1 Publication

Binary interactionsⁱ

Hide details

Q06710

With	#Exp.	IntAct
CDK3 [Q00526]	3	EBI-2683132,EBI-1245761
DOK4 [Q8TEW6]	3	EBI-2683132,EBI-6918542
GCM2 [O75603]	3	EBI-2683132,EBI-10188645
HOXC8 [P31273]	3	EBI-2683132,EBI-1752118
HOXC9 [P31274]	3	EBI-2683132,EBI-1779423
LONRF1 [Q17RB8]	3	EBI-2683132,EBI-2341787
NCL [P19338]	2	EBI-2683132,EBI-346967
SAE1 [Q9UBE0]	3	EBI-2683132,EBI-743154
SERINC1 [Q9NRX5]	2	EBI-2683132,EBI-2683145
SS18L1 - isoform 5 [O75177-5]	3	EBI-2683132,EBI-12035119
TLE5 - isoform 2 [Q08117-2]	3	EBI-2683132,EBI-11741437

Protein-protein interaction databases

BioGRIDⁱ	113604, 9 interactors
IntActⁱ	Q06710, 23 interactors
STRINGⁱ	9606.ENSP00000263334

Miscellaneous databases

RNActⁱ	Q06710, protein

RNActⁱ

Q06710, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	21 – 23	Combined sources	3
Helixⁱ	28 – 40	Combined sources	13
Helixⁱ	44 – 51	Combined sources	8
Helixⁱ	56 – 62	Combined sources	7
Helixⁱ	88 – 98	Combined sources	11
Beta strandⁱ	100 – 102	Combined sources	3
Helixⁱ	104 – 114	Combined sources	11
Turnⁱ	119 – 121	Combined sources	3
Helixⁱ	125 – 135	Combined sources	11

Show more details

3D structure databases

SMRⁱ	Q06710
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q06710

EvolutionaryTraceⁱ

Q06710

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	12 – 68	PAI subdomainPROSITE-ProRule annotationAdd BLAST		57
Regionⁱ	87 – 135	RED subdomainPROSITE-ProRule annotationAdd BLAST		49

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	315 – 327	Ser-richAdd BLAST		13

Keywords - Domainⁱ

Paired box

Phylogenomic databases

eggNOGⁱ	KOG3862, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000161868
HOGENOMⁱ	CLU_019281_1_3_1
InParanoidⁱ	Q06710
KEGG Orthology (KO) More...KOⁱ	K09293
OMAⁱ	AHQTYPV
PhylomeDBⁱ	Q06710
TreeFamⁱ	TF315397

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00131, PAX, 1 hit
Database of protein disorder More...DisProtⁱ	DP01517
Gene3Dⁱ	1.10.10.10, 2 hits
InterProⁱ	View protein in InterPro IPR009057, Homeobox-like_sf IPR043182, PAIRED_DNA_bd_dom IPR001523, Paired_dom IPR022130, Pax2_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf
PANTHERⁱ	PTHR45636, PTHR45636, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00292, PAX, 1 hit PF12403, Pax2_C, 1 hit
PRINTSⁱ	PR00027, PAIREDBOX
SMARTⁱ	View protein in SMART SM00351, PAX, 1 hit
SUPFAMⁱ	SSF46689, SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit

Sequences (5+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 5 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q06710-1) [UniParc]FASTA Add to basket

Also known as: Pax8a

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD 
       310        320        330        340        350
PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS 
       360        370        380        390        400
VYGQFTGQAL LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY 
       410        420        430        440        450
SGNAYGHTPY SSYSEAWRFP NSSLLSSPYY YSSTSRPSAP PTTATAFDHL

Length:450

Mass (Da):48,218

Last modified:November 25, 2008 - v2

Checksum:ⁱ7FDAFA8CEAF20A0E

GO

Isoform 2 (identifier: Q06710-2) [UniParc]FASTA Add to basket

Also known as: Pax8b

The sequence of this isoform differs from the canonical sequence as follows:
300-362: Missing.

« Hide

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAG 
       310        320        330        340        350
REMVGPTLPG YPPHIPTSGQ GSYASSAIAG MVAGSEYSGN AYGHTPYSSY 
       360        370        380 
SEAWRFPNSS LLSSPYYYSS TSRPSAPPTT ATAFDHL

Show »

Length:387

Mass (Da):41,741

Checksum:ⁱ8618767656E83C39

GO

Isoform 3 (identifier: Q06710-3) [UniParc]FASTA Add to basket

Also known as: Pax8c

The sequence of this isoform differs from the canonical sequence as follows:
300-450: DPHSPFAIKQ...PTTATAFDHL → APPFWICSKS...RPGASPTPAC

« Hide

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAA 
       310        320        330        340        350
PPFWICSKSA PGSRPSMPFP MLPPCTGSSR ARPSSQGERW WGPRCPDTHP 
       360        370        380        390 
TSPPADRAAM PPLPSQAWWQ EVNTLAMPMA TPPTPPTARP GASPTPAC

Show »

Length:398

Mass (Da):43,028

Checksum:ⁱB8A48B2C8916723C

GO

Isoform 4 (identifier: Q06710-4) [UniParc]FASTA Add to basket

Also known as: Pax8d

The sequence of this isoform differs from the canonical sequence as follows:
260-450: GLYPLPLLNS...PTTATAFDHL → GERWWGPRCP...RPGASPTPAC

« Hide

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG ERWWGPRCPD THPTSPPADR AAMPPLPSQA WWQEVNTLAM 
       310        320 
PMATPPTPPT ARPGASPTPA C

Show »

Length:321

Mass (Da):34,909

Checksum:ⁱDE1BC715C6C75532

GO

Isoform 5 (identifier: Q06710-5) [UniParc]FASTA Add to basket

Also known as: Pax8e

The sequence of this isoform differs from the canonical sequence as follows:
260-450: GLYPLPLLNS...PTTATAFDHL → EVNTLAMPMATPPTPPTARPGASPTPAC

« Hide

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280 
SPSHTKGEQE VNTLAMPMAT PPTPPTARPG ASPTPAC

Show »

Length:287

Mass (Da):31,044

Checksum:ⁱ418320AD43B1237E

GO

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

G3V3F3	G3V3F3_HUMAN	Paired box protein Pax-8 Paired box protein Pax-8	PAX8	116	Annotation score:
H0YJZ5	H0YJZ5_HUMAN	Paired box protein Pax-8 Paired box protein Pax-8	PAX8	98	Annotation score:
H0YJD1	H0YJD1_HUMAN	Paired box protein Pax-8 Paired box protein Pax-8	PAX8	173	Annotation score:
A0A140TA56	A0A140TA56_HUMAN	Paired box protein Pax-8 Paired box protein Pax-8	PAX8	85	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	305	F → L in X69699 (PubMed:1337742).Curated	1
Sequence conflictⁱ	322	S → C in X69699 (PubMed:1337742).Curated	1
Sequence conflictⁱ	418	R → G in X69699 (PubMed:1337742).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_012769	31	R → H in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893657EnsemblClinVar.	1
Natural variantⁱVAR_012770	40	Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893656EnsemblClinVar.	1
Natural variantⁱVAR_012771	57	C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893659EnsemblClinVar.	1
Natural variantⁱVAR_012772	62	L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893658EnsemblClinVar.	1
Natural variantⁱVAR_012773	329	F → L1 PublicationCorresponds to variant dbSNP:rs3188996EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_002374	260 – 450	GLYPL…AFDHL → GERWWGPRCPDTHPTSPPAD RAAMPPLPSQAWWQEVNTLA MPMATPPTPPTARPGASPTP AC in isoform 4. 1 PublicationAdd BLAST	191
Alternative sequenceⁱVSP_002375	260 – 450	GLYPL…AFDHL → EVNTLAMPMATPPTPPTARP GASPTPAC in isoform 5. 1 PublicationAdd BLAST	191
Alternative sequenceⁱVSP_002373	300 – 450	DPHSP…AFDHL → APPFWICSKSAPGSRPSMPF PMLPPCTGSSRARPSSQGER WWGPRCPDTHPTSPPADRAA MPPLPSQAWWQEVNTLAMPM ATPPTPPTARPGASPTPAC in isoform 3. 1 PublicationAdd BLAST	151
Alternative sequenceⁱVSP_002372	300 – 362	Missing in isoform 2. 1 PublicationAdd BLAST	63

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X69699 mRNA No translation available. L19606 mRNA Translation: AAA03539.1 S77904 mRNA Translation: AAB34216.1 S77905 mRNA Translation: AAB34217.2 S77906 mRNA Translation: AAB34218.2 AK292191 mRNA Translation: BAF84880.1 AC016683 Genomic DNA Translation: AAX88880.1 CH471217 Genomic DNA Translation: EAW73629.1 BC001060 mRNA Translation: AAH01060.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS42735.1 [Q06710-5] CCDS42736.1 [Q06710-4] CCDS46398.1 [Q06710-1] CCDS46399.1 [Q06710-3]
PIRⁱ	A54429 I53340
NCBI Reference Sequences More...RefSeqⁱ	NP_003457.1, NM_003466.3 [Q06710-1] NP_039246.1, NM_013952.3 [Q06710-3] NP_039247.1, NM_013953.3 [Q06710-4] NP_054698.1, NM_013992.3 [Q06710-5]

Genome annotation databases

Ensemblⁱ	ENST00000263334; ENSP00000263334; ENSG00000125618 [Q06710-1] ENST00000263335; ENSP00000263335; ENSG00000125618 [Q06710-4] ENST00000348715; ENSP00000314750; ENSG00000125618 [Q06710-3] ENST00000397647; ENSP00000380768; ENSG00000125618 [Q06710-5] ENST00000429538; ENSP00000395498; ENSG00000125618 [Q06710-1]
GeneIDⁱ	7849
KEGGⁱ	hsa:7849
UCSC genome browser More...UCSCⁱ	uc002tjm.4, human [Q06710-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q06710	Paired box 8 isoform 1		HUMAN		450	UniRef100_Q06710
Paired box gene 8, isoform CRA_b		HUMAN		307
Q06710-2	Paired box 8 isoform 2		HUMAN		387	UniRef100_A0A024R531
Q06710-3	Paired box gene 8, isoform CRA_d		HUMAN		398	UniRef100_A0A024R524
Q06710-4	Paired box gene 8, isoform CRA_c		HUMAN		321	UniRef100_A0A024R4X8
PAX8 isoform 5		PONAB		321
Paired box 8		PANTR		321
Paired domain-containing protein		CERAT		321
Paired domain-containing protein		PAPAN		321
+6
Q06710-5	PAX8 isoform 2		PONAB		287	UniRef100_A0A2J8SH54
Paired box 8		PANTR		287
Paired domain-containing protein		CERAT		287
Paired domain-containing protein		PAPAN		287
Paired domain-containing protein		PANPA		287
+5

Protein	Similar proteins		Species	Score	Length	Source
Q06710	Paired box protein Pax-8		PONAB		457	UniRef90_Q06710
Paired box 8 isoform 1		HUMAN		450
Paired domain-containing protein		MACNE		544
Paired domain-containing protein		CERAT		452
Paired box 8		NOMLE		488
+62
Q06710-2	Paired domain-containing protein		MACFA		387	UniRef90_A0A2K5X838
Paired box protein Pax-8		HETGA		483
paired box protein Pax-8 isoform X2		ERIEU		457
Paired domain-containing protein		AOTNA		387
Paired box 8 isoform 2		HUMAN		387
+8
Q06710-3	Paired box gene 8, isoform CRA_d		HUMAN		398	UniRef90_A0A024R524
Paired box 8		NOMLE		321
Q06710-4	Paired domain-containing protein		Cebus capucinus imitator		321	UniRef90_A0A2K5SIA9
Paired box gene 8, isoform CRA_c		HUMAN		321
PAX8 isoform 5		PONAB		321
Paired box 8		PANTR		321
Paired domain-containing protein		CERAT		321
+27

Protein	Similar proteins		Species	Score	Length	Source
Q06710	Paired box protein Pax-8		PONAB		457	UniRef50_Q06710
Paired box protein Pax-8		MOUSE		457
Paired box 8 isoform 1		HUMAN		450
Paired domain-containing protein		MACNE		544
Paired domain-containing protein		CERAT		452
+184
Q06710-2	Isoform 8 of Paired box protein Pax-2a		DANRE		404	UniRef50_Q90268-8
Paired box protein Pax-2-B		XENLA		494
Paired domain-containing protein		pinecone soldierfish		399
Paired box 8		RABIT		448
Paired box protein Pax-2a		LARCR		425
+507
Q06710-3	Paired domain-containing protein		ICTTR		322	UniRef50_A0A287DFP9
paired box protein Pax-8 isoform X3		ODORO		322
Paired box 8		HORSE		322
Paired box 8		LYNCA		322
Paired box 8		FELCA		322
+51
Q06710-4	Paired domain-containing protein		Cebus capucinus imitator		321	UniRef50_A0A2K5SIA9
Paired domain-containing protein		RHIRO		321
Paired domain-containing protein		RHIBE		321
Paired domain-containing protein		AOTNA		321
Paired box 8		SAIBB		321
+56

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X69699 mRNA No translation available. L19606 mRNA Translation: AAA03539.1 S77904 mRNA Translation: AAB34216.1 S77905 mRNA Translation: AAB34217.2 S77906 mRNA Translation: AAB34218.2 AK292191 mRNA Translation: BAF84880.1 AC016683 Genomic DNA Translation: AAX88880.1 CH471217 Genomic DNA Translation: EAW73629.1 BC001060 mRNA Translation: AAH01060.1
CCDSⁱ	CCDS42735.1 [Q06710-5] CCDS42736.1 [Q06710-4] CCDS46398.1 [Q06710-1] CCDS46399.1 [Q06710-3]
PIRⁱ	A54429 I53340
RefSeqⁱ	NP_003457.1, NM_003466.3 [Q06710-1] NP_039246.1, NM_013952.3 [Q06710-3] NP_039247.1, NM_013953.3 [Q06710-4] NP_054698.1, NM_013992.3 [Q06710-5]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2K27	NMR	-	A	1-143	[»]
SMRⁱ	Q06710
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	113604, 9 interactors
IntActⁱ	Q06710, 23 interactors
STRINGⁱ	9606.ENSP00000263334

Chemistry databases

ChEMBLⁱ	CHEMBL2362980

ChEMBLⁱ

CHEMBL2362980

PTM databases

iPTMnetⁱ	Q06710
PhosphoSitePlusⁱ	Q06710

Polymorphism and mutation databases

BioMutaⁱ	PAX8
DMDMⁱ	215273928

Proteomic databases

MassIVEⁱ	Q06710
PaxDbⁱ	Q06710
PeptideAtlasⁱ	Q06710
PRIDEⁱ	Q06710
ProteomicsDBⁱ	58470 [Q06710-1] 58471 [Q06710-2] 58472 [Q06710-3] 58473 [Q06710-4] 58474 [Q06710-5]

Protocols and materials databases

Antibodypediaⁱ	9626, 839 antibodies
The DNASU plasmid repository More...DNASUⁱ	7849

Genome annotation databases

Ensemblⁱ	ENST00000263334; ENSP00000263334; ENSG00000125618 [Q06710-1] ENST00000263335; ENSP00000263335; ENSG00000125618 [Q06710-4] ENST00000348715; ENSP00000314750; ENSG00000125618 [Q06710-3] ENST00000397647; ENSP00000380768; ENSG00000125618 [Q06710-5] ENST00000429538; ENSP00000395498; ENSG00000125618 [Q06710-1]
GeneIDⁱ	7849
KEGGⁱ	hsa:7849
UCSCⁱ	uc002tjm.4, human [Q06710-1]

Organism-specific databases

CTDⁱ	7849
DisGeNETⁱ	7849
EuPathDBⁱ	HostDB:ENSG00000125618.16
GeneCardsⁱ	PAX8
HGNCⁱ	HGNC:8622, PAX8
HPAⁱ	ENSG00000125618, Group enriched (kidney, thyroid gland)
MalaCardsⁱ	PAX8
MIMⁱ	167415, gene 218700, phenotype
neXtProtⁱ	NX_Q06710
OpenTargetsⁱ	ENSG00000125618
Orphanetⁱ	95713, Athyreosis 146, Differentiated thyroid carcinoma 95712, Thyroid ectopia 95720, Thyroid hypoplasia
PharmGKBⁱ	PA32962
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3862, Eukaryota
GeneTreeⁱ	ENSGT00940000161868
HOGENOMⁱ	CLU_019281_1_3_1
InParanoidⁱ	Q06710
KOⁱ	K09293
OMAⁱ	AHQTYPV
PhylomeDBⁱ	Q06710
TreeFamⁱ	TF315397

Enzyme and pathway databases

PathwayCommonsⁱ	Q06710
SIGNORⁱ	Q06710

Miscellaneous databases

BioGRID-ORCSⁱ	7849, 46 hits in 894 CRISPR screens
ChiTaRSⁱ	PAX8, human
EvolutionaryTraceⁱ	Q06710
GeneWikiⁱ	PAX8
GenomeRNAiⁱ	7849
Pharosⁱ	Q06710, Tbio
Protein Ontology More...PROⁱ	PR:Q06710
RNActⁱ	Q06710, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000125618, Expressed in right lobe of thyroid gland and 228 other tissues
ExpressionAtlasⁱ	Q06710, baseline and differential
Genevisibleⁱ	Q06710, HS

Family and domain databases

CDDⁱ	cd00131, PAX, 1 hit
DisProtⁱ	DP01517
Gene3Dⁱ	1.10.10.10, 2 hits
InterProⁱ	View protein in InterPro IPR009057, Homeobox-like_sf IPR043182, PAIRED_DNA_bd_dom IPR001523, Paired_dom IPR022130, Pax2_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf
PANTHERⁱ	PTHR45636, PTHR45636, 1 hit
Pfamⁱ	View protein in Pfam PF00292, PAX, 1 hit PF12403, Pax2_C, 1 hit
PRINTSⁱ	PR00027, PAIREDBOX
SMARTⁱ	View protein in SMART SM00351, PAX, 1 hit
SUPFAMⁱ	SSF46689, SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PAX8_HUMAN
Accessionⁱ	Q06710Primary (citable) accession number: Q06710 Secondary accession number(s): Q09155 , Q16337, Q16338, Q16339, Q4ZG35, Q96J49
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
	Last sequence update:	November 25, 2008
	Last modified:	August 12, 2020
	This is version 194 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM

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UniProtKB - Q06710 (PAX8_HUMAN)

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Paired box protein Pax-8

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Q06710

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Compositional bias

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ