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Protein

Homeobox protein Nkx-2.2

Gene

NKX2-2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

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 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:7835. NKX2-2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31642.

Polymorphism and mutation databases

BioMutaiNKX2-2.

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.
GenevisibleiO95096. HS.

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.
GeneTreeiENSGT00800000124015.
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

Polymorphism and mutation databases

BioMutaiNKX2-2.

Proteomic databases

PaxDbiO95096.
PRIDEiO95096.

Protocols and materials databases

DNASUi4821.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4821.
GeneCardsiGC20M021491.
HGNCiHGNC:7835. NKX2-2.
HPAiHPA003468.
MIMi604612. gene.
neXtProtiNX_O95096.
PharmGKBiPA31642.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG310976.
GeneTreeiENSGT00800000124015.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiO95096.
KOiK08029.
OMAiGKPCHTL.
OrthoDBiEOG769ZK0.
PhylomeDBiO95096.
TreeFamiTF351204.

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.

Miscellaneous databases

ChiTaRSiNKX2-2. human.
GeneWikiiNKX2-2.
GenomeRNAii4821.
NextBioi18576.
PROiO95096.
SOURCEiSearch...

Gene expression databases

BgeeiO95096.
CleanExiHS_NKX2-2.
GenevisibleiO95096. HS.

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]
ProtoNetiSearch...

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: July 22, 2015
This is version 132 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.