NKX2-2 (NK2 homeobox 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4821
Gene name Gene Name - the full gene name approved by the HGNC.
NK2 homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NKX2-2
Synonyms (NCBI Gene) Gene synonyms aliases
NKX2.2, NKX2B
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.22
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form o
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(315)
miRTarBase ID miRNA Experiments Reference
MIRT021435 hsa-miR-9-5p Microarray 17612493
MIRT029734 hsa-miR-26b-5p Microarray 19088304
MIRT455111 hsa-miR-5193 PAR-CLIP 20371350
MIRT455104 hsa-miR-4651 PAR-CLIP 20371350
MIRT455103 hsa-miR-608 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0000987 Function Cis-regulatory region sequence-specific DNA binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604612 7835 ENSG00000125820
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95096
Protein name Homeobox protein Nkx-2.2 (Homeobox protein NK-2 homolog B)
Protein function Transcriptional activator involved in the development of insulin-producting beta cells in the endocrine pancreas (By similarity). May also be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 129 → 185 Homeodomain Domain
Sequence 
MSLTNTKTGFSVKDILDLPDTNDEEGSVAEGPEEENEGPEPAKRAGPLGQGALDAVQSLP
LKNPFYDSSDNPYTRWLASTEGLQYSLHGLAAGAPPQDSSSKSPEPSADESPDNDKETPG
GGGDAGKKRKRRVLFSKAQTYELERRFRQQRYLSAPEREHLASLIRLTPTQVKIWFQNHR
YKMKRARAEKGMEVTPLPSPRRVAVPVLVRDGKPCHALKAQDLAAATFQAGIPFSAYSAQ
SLQHMQYNAQYSSASTPQYPTAHPLVQAQQWTW
Sequence length 273
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Maturity onset diabetes of the young   Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Neonatal diabetes mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
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