Q06710 (PAX8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Paired box protein Pax-8

Gene names

Name:

PAX8

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	450 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
Subunit structure	Interacts with WWTR1. Ref.8
Subcellular location	Nucleus.
Tissue specificity	Expressed in the excretory system, thyroid gland and Wilms tumors.
Developmental stage	In developing excretory system, during thyroid differentiation and in adult thyroid.
Involvement in disease	Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11
Sequence similarities	Contains 1 paired domain.

Ontologies

Keywords
Biological process	Differentiation Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital hypothyroidism Disease mutation
Domain	Paired box
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	branching involved in ureteric bud morphogenesis Inferred from expression pattern Ref.1. Source: UniProtKB cellular response to gonadotropin stimulus Inferred from direct assay PubMed 15961562. Source: UniProtKB central nervous system development Inferred from expression pattern PubMed 15494458. Source: UniProtKB inner ear morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB mesenchymal to epithelial transition involved in metanephros morphogenesis Inferred from expression pattern PubMed 8861958. Source: UniProtKB mesonephric tubule development Inferred from electronic annotation. Source: Compara mesonephros development Inferred from sequence or structural similarity. Source: UniProtKB metanephric S-shaped body morphogenesis Inferred from expression pattern Ref.1. Source: UniProtKB metanephric comma-shaped body morphogenesis Inferred from expression pattern Ref.1. Source: UniProtKB metanephric distal convoluted tubule development Inferred from sequence or structural similarity. Source: UniProtKB metanephric nephron tubule formation Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of apoptotic process involved in metanephric collecting duct development Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of apoptotic process involved in metanephric nephron tubule development Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB otic vesicle development Inferred from expression pattern PubMed 15494458. Source: UniProtKB positive regulation of branching involved in ureteric bud morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of metanephric DCT cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of thyroid hormone generation Inferred from mutant phenotype PubMed 15356023. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 9388203. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from direct assay PubMed 8861958PubMed 8861958PubMed 8861958. Source: UniProtKB pronephric field specification Inferred from sequence or structural similarity. Source: UniProtKB regulation of metanephric nephron tubule epithelial cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB regulation of thyroid-stimulating hormone secretion Inferred from mutant phenotype PubMed 15356023. Source: UniProtKB thyroid gland development Inferred from mutant phenotype Ref.9. Source: UniProtKB transcription, DNA-dependent Inferred from direct assay Ref.9Ref.2. Source: UniProtKB
Cellular_component	nucleoplasm Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	RNA polymerase II core promoter sequence-specific DNA binding Inferred from direct assay PubMed 9388203. Source: UniProtKB sequence-specific DNA binding transcription factor activity Inferred from direct assay PubMed 9388203Ref.9. Source: UniProtKB thyroid-stimulating hormone receptor activity Traceable author statement Ref.9. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NCL	P19338	2	EBI-2683132,EBI-346967
SERINC1	Q9NRX5	2	EBI-2683132,EBI-2683145

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q06710-1)

Also known as: Pax8a;

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

Isoform 2 (identifier: Q06710-2)

Also known as: Pax8b;

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

Isoform 3 (identifier: Q06710-3)

Also known as: Pax8c;

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

Isoform 4 (identifier: Q06710-4)

Also known as: Pax8d;

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

Isoform 5 (identifier: Q06710-5)

Also known as: Pax8e;

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 450

450

Paired box protein Pax-8

PRO_0000050197

Regions

Domain

9 – 135

127

Paired

Compositional bias

315 – 327

13

Ser-rich

Amino acid modifications

Modified residue

279

1

Phosphothreonine By similarity

Modified residue

283

1

Phosphothreonine By similarity

Natural variations

Alternative sequence

260 – 450

191

GLYPL…AFDHL → GERWWGPRCPDTHPTSPPAD RAAMPPLPSQAWWQEVNTLA MPMATPPTPPTARPGASPTP AC in isoform 4.

VSP_002374

Alternative sequence

260 – 450

191

GLYPL…AFDHL → EVNTLAMPMATPPTPPTARP GASPTPAC in isoform 5.

VSP_002375

Alternative sequence

300 – 450

151

DPHSP…AFDHL → APPFWICSKSAPGSRPSMPF PMLPPCTGSSRARPSSQGER WWGPRCPDTHPTSPPADRAA MPPLPSQAWWQEVNTLAMPM ATPPTPPTARPGASPTPAC in isoform 3.

VSP_002373

Alternative sequence

300 – 362

63

Missing in isoform 2.

VSP_002372

Natural variant

31

1

R → H in CHNG2; loss of activity. Ref.9

VAR_012769

Natural variant

40

1

Q → P in CHNG2; loss of activity. Ref.11

VAR_012770

Natural variant

57

1

C → Y in CHNG2; loss of activity. Ref.10

VAR_012771

Natural variant

62

1

L → R in CHNG2; loss of activity. Ref.9

VAR_012772

Natural variant

329

1

F → L. Ref.1
Corresponds to variant rs3188996 [ dbSNP | Ensembl ].

VAR_012773

Experimental info

Sequence conflict

305

1

F → L in X69699. Ref.1

Sequence conflict

322

1

S → C in X69699. Ref.1

Sequence conflict

418

1

R → G in X69699. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

450

Helix Strand Turn

Details...

Beta strand

21 – 23

3

Helix

28 – 40

13

Helix

44 – 51

8

Helix

56 – 62

7

Helix

88 – 98

11

Beta strand

100 – 102

3

Helix

104 – 114

11

Turn

119 – 121

3

Helix

125 – 135

11

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Pax8a) [UniParc]. Last modified November 25, 2008. Version 2. Checksum: 7FDAFA8CEAF20A0E	FASTA	450	48,218
	10 20 30 40 50 60 MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK 70 80 90 100 110 120 ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND 130 140 150 160 170 180 TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY 190 200 210 220 230 240 SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF 250 260 270 280 290 300 ERQHYPEAYA SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD 310 320 330 340 350 360 PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS VYGQFTGQAL 370 380 390 400 410 420 LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY SGNAYGHTPY SSYSEAWRFP 430 440 450 NSSLLSSPYY YSSTSRPSAP PTTATAFDHL
	Isoform 2 (Pax8b) [UniParc]. Checksum: 8618767656E83C39	FASTA	387	41,741
	10 20 30 40 50 60 MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK 70 80 90 100 110 120 ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND 130 140 150 160 170 180 TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY 190 200 210 220 230 240 SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF 250 260 270 280 290 300 ERQHYPEAYA SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAG 310 320 330 340 350 360 REMVGPTLPG YPPHIPTSGQ GSYASSAIAG MVAGSEYSGN AYGHTPYSSY SEAWRFPNSS 370 380 LLSSPYYYSS TSRPSAPPTT ATAFDHL
	Isoform 3 (Pax8c) [UniParc]. Checksum: B8A48B2C8916723C	FASTA	398	43,028
	10 20 30 40 50 60 MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK 70 80 90 100 110 120 ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND 130 140 150 160 170 180 TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY 190 200 210 220 230 240 SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF 250 260 270 280 290 300 ERQHYPEAYA SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAA 310 320 330 340 350 360 PPFWICSKSA PGSRPSMPFP MLPPCTGSSR ARPSSQGERW WGPRCPDTHP TSPPADRAAM 370 380 390 PPLPSQAWWQ EVNTLAMPMA TPPTPPTARP GASPTPAC
	Isoform 4 (Pax8d) [UniParc]. Checksum: DE1BC715C6C75532	FASTA	321	34,909
	10 20 30 40 50 60 MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK 70 80 90 100 110 120 ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND 130 140 150 160 170 180 TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY 190 200 210 220 230 240 SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF 250 260 270 280 290 300 ERQHYPEAYA SPSHTKGEQG ERWWGPRCPD THPTSPPADR AAMPPLPSQA WWQEVNTLAM 310 320 PMATPPTPPT ARPGASPTPA C
	Isoform 5 (Pax8e) [UniParc]. Checksum: 418320AD43B1237E	FASTA	287	31,044
	10 20 30 40 50 60 MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK 70 80 90 100 110 120 ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND 130 140 150 160 170 180 TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY 190 200 210 220 230 240 SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF 250 260 270 280 ERQHYPEAYA SPSHTKGEQE VNTLAMPMAT PPTPPTARPG ASPTPAC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors." Poleev A., Fickenscher H., Mundlos S., Winterpacht A., Zabel B., Fidler A., Gruss P., Plachov D. Development 116:611-623(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-329. Tissue: Kidney.
[2]	"Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties." Kozmik Z., Kurzbauer R., Doerfler P., Busslinger M. Mol. Cell. Biol. 13:6024-6035(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING. Tissue: Kidney.
[3]	"Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors." Poleev A., Wendler F., Fickenscher H., Zannini M.S., Yaginuma K., Abbott C., Plachov D. Eur. J. Biochem. 228:899-911(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 4 AND 5).
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Cervix.
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Kidney.
[8]	"TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation." Di Palma T., D'Andrea B., Liguori G.L., Liguoro A., de Cristofaro T., Del Prete D., Pappalardo A., Mascia A., Zannini M. Exp. Cell Res. 315:162-175(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH WWTR1.
[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.
[10]	"Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8." Vilain C., Rydlewski C., Duprez L., Heinrichs C., Abramowicz M., Malvaux P., Renneboog B., Parma J., Costagliola S., Vassart G. J. Clin. Endocrinol. Metab. 86:234-238(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CHNG2 TYR-57.
[11]	"A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child." Congdon T., Nguyen L.Q., Nogueira C.R., Habiby R.L., Medeiros-Neto G., Kopp P. J. Clin. Endocrinol. Metab. 86:3962-3967(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CHNG2 PRO-40.
+	Additional computationally mapped references.

Web resources

GeneReviews

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00183926.
IPI00221027.
IPI00306346.
IPI00335892.
IPI00790594.

PIR

A54429.
I53340.

RefSeq

NP_003457.1. NM_003466.3.
NP_039246.1. NM_013952.3.
NP_039247.1. NM_013953.3.
NP_054698.1. NM_013992.3.

UniGene

Hs.469728.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2K27	NMR	-	A	1-146	[»]

ProteinModelPortal

Q06710.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q06710. 13 interactions.

STRING

9606.ENSP00000395498.

PTM databases

PhosphoSite

Q06710.

Polymorphism databases

DMDM

215273928.

Proteomic databases

PaxDb

Q06710.

PRIDE

Q06710.

Protocols and materials databases

DNASU

7849.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000263334; ENSP00000263334; ENSG00000125618.
ENST00000263335; ENSP00000263335; ENSG00000125618.
ENST00000348715; ENSP00000314750; ENSG00000125618.
ENST00000397647; ENSP00000380768; ENSG00000125618.
ENST00000429538; ENSP00000395498; ENSG00000125618.

GeneID

7849.

KEGG

hsa:7849.

UCSC

uc002tjm.3. human.
uc002tjn.3. human.
uc010fku.1. human.
uc010yxu.2. human.

Organism-specific databases

CTD

7849.

GeneCards

GC02M113973.

HGNC

HGNC:8622. PAX8.

HPA

HPA030062.

MIM

167415. gene.
218700. phenotype.

neXtProt

NX_Q06710.

Orphanet

95713. Athyreosis.
95720. Thyroid hypoplasia.

PharmGKB

PA32962.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG326044.

HOVERGEN

HBG009115.

InParanoid

Q06710.

KO

K09293.

OMA

EQGLYPL.

Gene expression databases

ArrayExpress

Q06710.

Bgee

Q06710.

CleanEx

HS_PAX8.

Genevestigator

Q06710.

GermOnline

ENSG00000125618. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.10. 2 hits.

InterPro

IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]

Pfam

PF00292. PAX. 1 hit.
PF12403. Pax2_C. 1 hit.
[Graphical view]

PRINTS

PR00027. PAIREDBOX.

SMART

SM00351. PAX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

ProtoNet

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Other

ChiTaRS

PAX8. human.

EvolutionaryTrace

Q06710.

GenomeRNAi

7849.

NextBio

30264.

SOURCE

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Entry information

Entry name

PAX8_HUMAN

Accession

Primary (citable) accession number: Q06710
Secondary accession number(s): Q09155 , Q16337, Q16338, Q16339, Q4ZG35, Q96J49

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	November 25, 2008
Last modified:	May 29, 2013
This is version 135 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.