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O95096

- NKX22_HUMAN

UniProt

O95096 - NKX22_HUMAN

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Protein

Homeobox protein Nkx-2.2

Gene

NKX2-2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi128 – 18760HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: UniProtKB
  2. core promoter proximal region DNA binding Source: UniProtKB
  3. sequence-specific DNA binding Source: Ensembl
  4. sequence-specific DNA binding transcription factor activity Source: Ensembl
  5. transcription coactivator activity Source: UniProtKB

GO - Biological processi

  1. astrocyte differentiation Source: Ensembl
  2. brain development Source: ProtInc
  3. digestive tract development Source: Ensembl
  4. endocrine pancreas development Source: Reactome
  5. negative regulation of neuron differentiation Source: Ensembl
  6. neuron fate specification Source: Ensembl
  7. oligodendrocyte development Source: Ensembl
  8. optic nerve development Source: Ensembl
  9. pancreatic A cell fate commitment Source: Ensembl
  10. pancreatic PP cell fate commitment Source: Ensembl
  11. positive regulation of neuron differentiation Source: Ensembl
  12. positive regulation of oligodendrocyte differentiation Source: Ensembl
  13. positive regulation of sequence-specific DNA binding transcription factor activity Source: UniProtKB
  14. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  15. response to glucose Source: Ensembl
  16. response to progesterone Source: Ensembl
  17. smoothened signaling pathway Source: Ensembl
  18. spinal cord motor neuron differentiation Source: Ensembl
  19. spinal cord oligodendrocyte cell fate specification Source: Ensembl
  20. transcription, DNA-templated Source: UniProtKB-KW
  21. type B pancreatic cell development Source: Ensembl
  22. type B pancreatic cell fate commitment Source: Ensembl
  23. ventral spinal cord interneuron fate determination Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_13650. Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells.
REACT_13819. Regulation of gene expression in beta cells.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Nkx-2.2
Alternative name(s):
Homeobox protein NK-2 homolog B
Gene namesi
Name:NKX2-2
Synonyms:NKX2.2, NKX2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:7835. NKX2-2.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31642.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 273273Homeobox protein Nkx-2.2PRO_0000048929Add
BLAST

Proteomic databases

PaxDbiO95096.
PRIDEiO95096.

Expressioni

Gene expression databases

BgeeiO95096.
CleanExiHS_NKX2-2.
GenevestigatoriO95096.

Organism-specific databases

HPAiHPA003468.

Interactioni

Subunit structurei

Interacts with OLIG2.By similarity

Protein-protein interaction databases

BioGridi110886. 3 interactions.
IntActiO95096. 1 interaction.
STRINGi9606.ENSP00000366347.

Structurei

3D structure databases

ProteinModelPortaliO95096.
SMRiO95096. Positions 127-189.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The homeodomain is essential for interaction with OLIG2.By similarity

Sequence similaritiesi

Belongs to the NK-2 homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG310976.
GeneTreeiENSGT00760000118779.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiO95096.
KOiK08029.
OMAiGKPCHTL.
OrthoDBiEOG769ZK0.
PhylomeDBiO95096.
TreeFamiTF351204.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95096-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSLTNTKTGF SVKDILDLPD TNDEEGSVAE GPEEENEGPE PAKRAGPLGQ
60 70 80 90 100
GALDAVQSLP LKNPFYDSSD NPYTRWLAST EGLQYSLHGL AAGAPPQDSS
110 120 130 140 150
SKSPEPSADE SPDNDKETPG GGGDAGKKRK RRVLFSKAQT YELERRFRQQ
160 170 180 190 200
RYLSAPEREH LASLIRLTPT QVKIWFQNHR YKMKRARAEK GMEVTPLPSP
210 220 230 240 250
RRVAVPVLVR DGKPCHALKA QDLAAATFQA GIPFSAYSAQ SLQHMQYNAQ
260 270
YSSASTPQYP TAHPLVQAQQ WTW
Length:273
Mass (Da):30,133
Last modified:May 1, 1999 - v1
Checksum:i91BDA220BAFA63D1
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF019415, AF019414 Genomic DNA. Translation: AAC83132.1.
AL133325 Genomic DNA. Translation: CAC00770.1.
BC075092 mRNA. Translation: AAH75092.1.
BC075093 mRNA. Translation: AAH75093.1.
CCDSiCCDS13145.1.
RefSeqiNP_002500.1. NM_002509.3.
UniGeneiHs.516922.

Genome annotation databases

EnsembliENST00000377142; ENSP00000366347; ENSG00000125820.
GeneIDi4821.
KEGGihsa:4821.
UCSCiuc002wsi.3. human.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF019415 , AF019414 Genomic DNA. Translation: AAC83132.1 .
AL133325 Genomic DNA. Translation: CAC00770.1 .
BC075092 mRNA. Translation: AAH75092.1 .
BC075093 mRNA. Translation: AAH75093.1 .
CCDSi CCDS13145.1.
RefSeqi NP_002500.1. NM_002509.3.
UniGenei Hs.516922.

3D structure databases

ProteinModelPortali O95096.
SMRi O95096. Positions 127-189.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110886. 3 interactions.
IntActi O95096. 1 interaction.
STRINGi 9606.ENSP00000366347.

Proteomic databases

PaxDbi O95096.
PRIDEi O95096.

Protocols and materials databases

DNASUi 4821.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377142 ; ENSP00000366347 ; ENSG00000125820 .
GeneIDi 4821.
KEGGi hsa:4821.
UCSCi uc002wsi.3. human.

Organism-specific databases

CTDi 4821.
GeneCardsi GC20M021491.
HGNCi HGNC:7835. NKX2-2.
HPAi HPA003468.
MIMi 604612. gene.
neXtProti NX_O95096.
PharmGKBi PA31642.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310976.
GeneTreei ENSGT00760000118779.
HOGENOMi HOG000231923.
HOVERGENi HBG006689.
InParanoidi O95096.
KOi K08029.
OMAi GKPCHTL.
OrthoDBi EOG769ZK0.
PhylomeDBi O95096.
TreeFami TF351204.

Enzyme and pathway databases

Reactomei REACT_13650. Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells.
REACT_13819. Regulation of gene expression in beta cells.

Miscellaneous databases

ChiTaRSi NKX2-2. human.
GeneWikii NKX2-2.
GenomeRNAii 4821.
NextBioi 18576.
PROi O95096.
SOURCEi Search...

Gene expression databases

Bgeei O95096.
CleanExi HS_NKX2-2.
Genevestigatori O95096.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiNKX22_HUMAN
AccessioniPrimary (citable) accession number: O95096
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1999
Last modified: October 29, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3