Q9C056 (NKX62_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Nkx-6.2

Alternative name(s):
Homeobox protein NK-6 homolog B

Gene names

Name:	NKX6-2
Synonyms:	GTX, NKX6B

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

General annotation (Comments)

Subcellular location	Nucleus Probable.
Tissue specificity	Highest expression in brain. Ref.1
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	central nervous system myelination Inferred from electronic annotation. Source: Compara endocrine pancreas development Inferred from electronic annotation. Source: Compara negative regulation of cell fate commitment Inferred from electronic annotation. Source: Compara negative regulation of glial cell differentiation Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara neuromuscular process controlling balance Inferred from electronic annotation. Source: Compara positive regulation of cell fate commitment Inferred from electronic annotation. Source: Compara positive regulation of glial cell differentiation Inferred from electronic annotation. Source: Compara regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Inferred from electronic annotation. Source: Compara regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: UniProtKB transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 277	277	Homeobox protein Nkx-6.2		PRO_0000300635
Regions
	DNA binding	148 – 207	60	Homeobox
Natural variations
	Natural variant	209	1	V → A. Ref.1 Ref.3 Ref.4 Corresponds to variant rs2804003 [ dbSNP | Ensembl ].		VAR_034878

Sequences

	Sequence		Length	Mass (Da)
	Q9C056 [UniParc]. Last modified September 11, 2007. Version 2. Checksum: 4B8EE650EC35D4A9	FASTA	277	29,263
	10 20 30 40 50 60 MDTNRPGAFV LSSAPLAALH NMAEMKTSLF PYALQGPAGF KAPALGGLGA QLPLGTPHGI 70 80 90 100 110 120 SDILGRPVGA AGGGLLGGLP RLNGLASSAG VYFGPAAAVA RGYPKPLAEL PGRPPIFWPG 130 140 150 160 170 180 VVQGAPWRDP RLAGPAPAGG VLDKDGKKKH SRPTFSGQQI FALEKTFEQT KYLAGPERAR 190 200 210 220 230 240 LAYSLGMTES QVKVWFQNRR TKWRKRHAVE MASAKKKQDS DAEKLKVGGS DAEDDDEYNR 250 260 270 PLDPNSDDEK ITRLLKKHKP SNLALVSPCG GGAGDAL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, expression and chromosomal location of NKX6B to 10q26, a region frequently deleted in brain tumors." Lee S.-H., Davison J.A., Vidal S.M., Belouchi A. Mamm. Genome 12:157-162(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-209, TISSUE SPECIFICITY.
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-209.
[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], VARIANT ALA-209. Tissue: Brain cortex.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF184215 Genomic DNA. Translation: AAK13251.1. AL392043 Genomic DNA. Translation: CAI39943.1. CH471211 Genomic DNA. Translation: EAW61308.1. BC101635 mRNA. Translation: AAI01636.1. BC104823 mRNA. Translation: AAI04824.1.
IPI	IPI00028161.
RefSeq	NP_796374.1. NM_177400.2.
UniGene	Hs.134013.
3D structure databases
HSSP	HSSP built from PDB template 1IG7 based on UniProtKB P13297.
ProteinModelPortal	Q9C056.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000357581.
PTM databases
PhosphoSite	Q9C056.
Polymorphism databases
DMDM	158564033.
Proteomic databases
PaxDb	Q9C056.
PRIDE	Q9C056.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368592; ENSP00000357581; ENSG00000148826.
GeneID	84504.
KEGG	hsa:84504.
UCSC	uc001llr.2. human.
Organism-specific databases
CTD	84504.
GeneCards	GC10M134598.
HGNC	HGNC:19321. NKX6-2.
MIM	605955. gene.
neXtProt	NX_Q9C056.
PharmGKB	PA134896334.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG265304.
HOGENOM	HOG000060127.
HOVERGEN	HBG070987.
InParanoid	Q9C056.
KO	K09350.
OMA	GPAGFKA.
OrthoDB	EOG4JT064.
PhylomeDB	Q9C056.
Gene expression databases
Bgee	Q9C056.
CleanEx	HS_NKX6-2.
Genevestigator	Q9C056.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX. PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	84504.
NextBio	74300.
SOURCE	Search...

Entry information

Entry name

NKX62_HUMAN

Accession

Primary (citable) accession number: Q9C056
Secondary accession number(s): Q5JSF3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	September 11, 2007
Last modified:	May 1, 2013
This is version 83 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.