Q96NM4 (TOX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
TOX high mobility group box family member 2

Alternative name(s):
Granulosa cell HMG box protein 1
Short name=GCX-1

Gene names

Name:	TOX2
Synonyms:	C20orf100, GCX1

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	488 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system.
Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 1 HMG box DNA-binding domain.
Caution	It is uncertain whether Met-1 or Met-52 is the initiator.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96NM4-1)

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: Q96NM4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     302-302: Q → QAYKRKTEAAKKEYLKALAAYRASLVSK

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96NM4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.
     302-302: Q → QAYKRKTEAAKKEYLKALAAYRASLVSK
     372-372: P → PP

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 488	488	TOX high mobility group box family member 2		PRO_0000048571
Regions
	DNA binding	255 – 323	69	HMG box
	Region	76 – 114	39	Required for transcriptional activation By similarity
	Motif	223 – 252	30	Nuclear localization signal By similarity
	Compositional bias	245 – 250	6	Poly-Lys
	Compositional bias	372 – 456	85	Pro-rich
Natural variations
	Alternative sequence	1 – 51	51	Missing in isoform 3.		VSP_045645
	Alternative sequence	302	1	Q → QAYKRKTEAAKKEYLKALAA YRASLVSK in isoform 2 and isoform 3.		VSP_002187
	Alternative sequence	372	1	P → PP in isoform 3.		VSP_045646
	Natural variant	223	1	V → A. Corresponds to variant rs6103584 [ dbSNP | Ensembl ].		VAR_049560
Experimental info
	Sequence conflict	482	1	D → N in BAB70860. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 19, 2002. Version 2. Checksum: 687FD144CF30731A	FASTA	488	51,604
	10 20 30 40 50 60 MQQTRTEAVA GAFSRCLGFC GMRLGLLLLA RHWCIAGVFP QKFDGDSAYV GMSDGNPELL 70 80 90 100 110 120 STSQTYNGQS ENNEDYEIPP ITPPNLPEPS LLHLGDHEAS YHSLCHGLTP NGLLPAYSYQ 130 140 150 160 170 180 AMDLPAIMVS NMLAQDSHLL SGQLPTIQEM VHSEVAAYDS GRPGPLLGRP AMLASHMSAL 190 200 210 220 230 240 SQSQLISQMG IRSSIAHSSP SPPGSKSATP SPSSSTQEEE SEVHFKISGE KRPSADPGKK 250 260 270 280 290 300 AKNPKKKKKK DPNEPQKPVS AYALFFRDTQ AAIKGQNPSA TFGDVSKIVA SMWDSLGEEQ 310 320 330 340 350 360 KQSSPDQGET KSTQANPPAK MLPPKQPMYA MPGLASFLTP SDLQAFRSGA SPASLARTLG 370 380 390 400 410 420 SKSLLPGLSA SPPPPPSFPL SPTLHQQLSL PPHAQGALLS PPVSMSPAPQ PPVLPTPMAL 430 440 450 460 470 480 QVQLAMSPSP PGPQDFPHIS EFPSSSGSCS PGPSNPTSSG DWDSSYPSGE CGISTCSLLP RDKSLYLT
	Isoform 2 [UniParc]. Checksum: 5B9ED0A9228B1449	FASTA	515	54,645
	10 20 30 40 50 60 MQQTRTEAVA GAFSRCLGFC GMRLGLLLLA RHWCIAGVFP QKFDGDSAYV GMSDGNPELL 70 80 90 100 110 120 STSQTYNGQS ENNEDYEIPP ITPPNLPEPS LLHLGDHEAS YHSLCHGLTP NGLLPAYSYQ 130 140 150 160 170 180 AMDLPAIMVS NMLAQDSHLL SGQLPTIQEM VHSEVAAYDS GRPGPLLGRP AMLASHMSAL 190 200 210 220 230 240 SQSQLISQMG IRSSIAHSSP SPPGSKSATP SPSSSTQEEE SEVHFKISGE KRPSADPGKK 250 260 270 280 290 300 AKNPKKKKKK DPNEPQKPVS AYALFFRDTQ AAIKGQNPSA TFGDVSKIVA SMWDSLGEEQ 310 320 330 340 350 360 KQAYKRKTEA AKKEYLKALA AYRASLVSKS SPDQGETKST QANPPAKMLP PKQPMYAMPG 370 380 390 400 410 420 LASFLTPSDL QAFRSGASPA SLARTLGSKS LLPGLSASPP PPPSFPLSPT LHQQLSLPPH 430 440 450 460 470 480 AQGALLSPPV SMSPAPQPPV LPTPMALQVQ LAMSPSPPGP QDFPHISEFP SSSGSCSPGP 490 500 510 SNPTSSGDWD SSYPSGECGI STCSLLPRDK SLYLT
	Isoform 3 [UniParc]. Checksum: E11E9C5F38846697	FASTA	465	49,210
	10 20 30 40 50 60 MSDGNPELLS TSQTYNGQSE NNEDYEIPPI TPPNLPEPSL LHLGDHEASY HSLCHGLTPN 70 80 90 100 110 120 GLLPAYSYQA MDLPAIMVSN MLAQDSHLLS GQLPTIQEMV HSEVAAYDSG RPGPLLGRPA 130 140 150 160 170 180 MLASHMSALS QSQLISQMGI RSSIAHSSPS PPGSKSATPS PSSSTQEEES EVHFKISGEK 190 200 210 220 230 240 RPSADPGKKA KNPKKKKKKD PNEPQKPVSA YALFFRDTQA AIKGQNPSAT FGDVSKIVAS 250 260 270 280 290 300 MWDSLGEEQK QAYKRKTEAA KKEYLKALAA YRASLVSKSS PDQGETKSTQ ANPPAKMLPP 310 320 330 340 350 360 KQPMYAMPGL ASFLTPSDLQ AFRSGASPAS LARTLGSKSL LPGLSASPPP PPPSFPLSPT 370 380 390 400 410 420 LHQQLSLPPH AQGALLSPPV SMSPAPQPPV LPTPMALQVQ LAMSPSPPGP QDFPHISEFP 430 440 450 460 SSSGSCSPGP SNPTSSGDWD SSYPSGECGI STCSLLPRDK SLYLT

References

[1]	"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] (ISOFORMS 1 AND 3). Tissue: Brain and Corpus callosum.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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 2). Tissue: Muscle.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK055135 mRNA. Translation: BAB70860.1. AK289906 mRNA. Translation: BAF82595.1. AL121587, AL034419 Genomic DNA. Translation: CAI21559.1. AL121587, AL034419 Genomic DNA. Translation: CAI21560.1. AL121587, AL034419 Genomic DNA. Translation: CAI21561.1. AL034419, AL121587 Genomic DNA. Translation: CAI42198.1. AL034419, AL121587 Genomic DNA. Translation: CAI42200.1. AL034419, AL121587 Genomic DNA. Translation: CAI42201.1. AL035089 Genomic DNA. No translation available. AL353797 Genomic DNA. No translation available. CH471077 Genomic DNA. Translation: EAW75944.1. CH471077 Genomic DNA. Translation: EAW75945.1. BC007636 mRNA. No translation available.
IPI	IPI00043748. IPI00219264. IPI00412463.
RefSeq	NP_001092266.1. NM_001098796.1. NP_001092268.1. NM_001098798.1. NP_116272.1. NM_032883.2.
UniGene	Hs.26608.
3D structure databases
ProteinModelPortal	Q96NM4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000344724.
PTM databases
PhosphoSite	Q96NM4.
Polymorphism databases
DMDM	24211591.
Proteomic databases
PaxDb	Q96NM4.
PRIDE	Q96NM4.
Protocols and materials databases
DNASU	84969.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358131; ENSP00000350849; ENSG00000124191. ENST00000372999; ENSP00000362090; ENSG00000124191. ENST00000423191; ENSP00000390278; ENSG00000124191. ENST00000442881; ENSP00000396584; ENSG00000124191.
GeneID	84969.
KEGG	hsa:84969.
UCSC	uc002xlf.4. human. uc010ggo.3. human.
Organism-specific databases
CTD	84969.
GeneCards	GC20P042543.
HGNC	HGNC:16095. TOX2.
HPA	HPA049900.
MIM	611163. gene.
neXtProt	NX_Q96NM4.
PharmGKB	PA162406727.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG291143.
HOGENOM	HOG000230949.
HOVERGEN	HBG051183.
Gene expression databases
ArrayExpress	Q96NM4.
Bgee	Q96NM4.
CleanEx	HS_TOX2.
Genevestigator	Q96NM4.
GermOnline	ENSG00000124191. Homo sapiens.
Family and domain databases
Gene3D	1.10.30.10. 1 hit.
InterPro	IPR009071. HMG_box_dom. [Graphical view]
Pfam	PF00505. HMG_box. 1 hit. [Graphical view]
SMART	SM00398. HMG. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS50118. HMG_BOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	84969.
NextBio	35463834.
SOURCE	Search...

Entry information

Entry name

TOX2_HUMAN

Accession

Primary (citable) accession number: Q96NM4
Secondary accession number(s): A8K1J1 , E1P5X0, Q5TE33, Q5TE34, Q5TE35, Q96IC9, Q9BQN5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	October 19, 2002
Last modified:	May 1, 2013
This is version 107 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.