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O95096

- NKX22_HUMAN

UniProt

O95096 - NKX22_HUMAN

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
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    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

    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

    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.
    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

    MSLTNTKTGF SVKDILDLPD TNDEEGSVAE GPEEENEGPE PAKRAGPLGQ    50
    GALDAVQSLP LKNPFYDSSD NPYTRWLAST EGLQYSLHGL AAGAPPQDSS 100
    SKSPEPSADE SPDNDKETPG GGGDAGKKRK RRVLFSKAQT YELERRFRQQ 150
    RYLSAPEREH LASLIRLTPT QVKIWFQNHR YKMKRARAEK GMEVTPLPSP 200
    RRVAVPVLVR DGKPCHALKA QDLAAATFQA GIPFSAYSAQ SLQHMQYNAQ 250
    YSSASTPQYP TAHPLVQAQQ WTW 273
    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.
    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

    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 1, 2014
    This is version 126 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