O95096 (NKX22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Nkx-2.2

Alternative name(s):
Homeobox protein NK-2 homolog B

Gene names

Name:	NKX2-2
Synonyms:	NKX2.2, NKX2B

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

General annotation (Comments)

Function	Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter By similarity.
Subunit structure	Interacts with OLIG2 By similarity.
Subcellular location	Nucleus By similarity.
Domain	The homeodomain is essential for interaction with OLIG2 By similarity.
Sequence similarities	Belongs to the NK-2 homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	astrocyte differentiation Inferred from electronic annotation. Source: Compara brain development Traceable author statement PubMed 1346742. Source: ProtInc digestive tract development Inferred from electronic annotation. Source: Compara endocrine pancreas development Traceable author statement. Source: Reactome negative regulation of neuron differentiation Inferred from electronic annotation. Source: Compara neuron fate specification Inferred from electronic annotation. Source: Compara oligodendrocyte development Inferred from electronic annotation. Source: Compara pancreatic A cell fate commitment Inferred from electronic annotation. Source: Compara pancreatic PP cell fate commitment Inferred from electronic annotation. Source: Compara positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara positive regulation of oligodendrocyte differentiation Inferred from electronic annotation. Source: Compara positive regulation of sequence-specific DNA binding transcription factor activity Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara smoothened signaling pathway Inferred from electronic annotation. Source: Compara spinal cord motor neuron differentiation Inferred from electronic annotation. Source: Compara spinal cord oligodendrocyte cell fate specification Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW type B pancreatic cell development Inferred from electronic annotation. Source: Compara type B pancreatic cell fate commitment Inferred from electronic annotation. Source: Compara ventral spinal cord interneuron fate determination Inferred from electronic annotation. Source: Compara
Cellular_component	nucleoplasm Traceable author statement. Source: Reactome
Molecular_function	chromatin binding Inferred from sequence or structural similarity. Source: UniProtKB core promoter proximal region DNA binding Inferred from sequence or structural similarity. Source: UniProtKB sequence-specific DNA binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Compara transcription coactivator activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 273	273	Homeobox protein Nkx-2.2		PRO_0000048929
Regions
	DNA binding	128 – 187	60	Homeobox

Sequences

	Sequence		Length	Mass (Da)
	O95096 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 91BDA220BAFA63D1	FASTA	273	30,133
	10 20 30 40 50 60 MSLTNTKTGF SVKDILDLPD TNDEEGSVAE GPEEENEGPE PAKRAGPLGQ GALDAVQSLP 70 80 90 100 110 120 LKNPFYDSSD NPYTRWLAST EGLQYSLHGL AAGAPPQDSS SKSPEPSADE SPDNDKETPG 130 140 150 160 170 180 GGGDAGKKRK RRVLFSKAQT YELERRFRQQ RYLSAPEREH LASLIRLTPT QVKIWFQNHR 190 200 210 220 230 240 YKMKRARAEK GMEVTPLPSP RRVAVPVLVR DGKPCHALKA QDLAAATFQA GIPFSAYSAQ 250 260 270 SLQHMQYNAQ YSSASTPQYP TAHPLVQAQQ WTW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese." Furuta H., Horikawa Y., Iwasaki N., Hara M., Sussel L., le Beau M.M., Davis E.M., Ogata M., Iwamoto Y., German M.S., Bell G.I. Diabetes 47:1356-1358(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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]	"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]. Tissue: Brain.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF019415, AF019414 Genomic DNA. Translation: AAC83132.1. AL133325 Genomic DNA. Translation: CAC00770.1. BC075092 mRNA. Translation: AAH75092.1. BC075093 mRNA. Translation: AAH75093.1.
IPI	IPI00028339.
RefSeq	NP_002500.1. NM_002509.3.
UniGene	Hs.516922.
3D structure databases
ProteinModelPortal	O95096.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000366347.
Proteomic databases
PaxDb	O95096.
PRIDE	O95096.
Protocols and materials databases
DNASU	4821.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377142; ENSP00000366347; ENSG00000125820.
GeneID	4821.
KEGG	hsa:4821.
UCSC	uc002wsi.3. human.
Organism-specific databases
CTD	4821.
GeneCards	GC20M021491.
HGNC	HGNC:7835. NKX2-2.
HPA	HPA003468.
MIM	604612. gene.
neXtProt	NX_O95096.
PharmGKB	PA31642.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG310976.
HOGENOM	HOG000231923.
HOVERGEN	HBG006689.
InParanoid	O95096.
KO	K08029.
OMA	GKPCHTL.
OrthoDB	EOG4Z36FJ.
PhylomeDB	O95096.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
Bgee	O95096.
CleanEx	HS_NKX2-2.
Genevestigator	O95096.
GermOnline	ENSG00000125820. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
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
ChiTaRS	NKX2-2. human.
GenomeRNAi	4821.
NextBio	18576.
SOURCE	Search...

Entry information

Entry name

NKX22_HUMAN

Accession

Primary (citable) accession number: O95096

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	May 1, 1999
Last modified:	May 1, 2013
This is version 117 of the entry and version 1 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.