Gene Gene information from NCBI Gene database.
Entrez ID 4821
Gene name NK2 homeobox 2
Gene symbol NKX2-2
Synonyms (NCBI Gene)
NKX2.2NKX2B
Chromosome 20
Chromosome location 20p11.22
Summary 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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604612 7835 ENSG00000125820
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
YKMKR
ARAEKGMEVTPLPSPRRVAVPVLVRDGKPCHALKAQDLAAATFQAGIPFSAYSAQ
SLQHMQYNAQYSSASTPQYPTAHPLVQAQQWTW
Sequence length 273
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Maturity onset diabetes of the young   Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEONATAL DIABETES MELLITUS Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NKX2-2-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 30680064
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 17146289
★☆☆☆☆
Found in Text Mining only
Desmoplastic Small Round Cell Tumor Desmoplastic Tumor BEFREE 26847175
★☆☆☆☆
Found in Text Mining only
Ewings sarcoma Ewing sarcoma BEFREE 26847175, 30093639
★☆☆☆☆
Found in Text Mining only
Hodgkin Disease Hodgkin Disease BEFREE 30680064
★☆☆☆☆
Found in Text Mining only
Mesenchymal Chondrosarcoma Mesenchymal Chondrosarcoma BEFREE 26847175
★☆☆☆☆
Found in Text Mining only
Neonatal diabetes mellitus Diabetes Mellitus BEFREE 24411943
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neonatal diabetes mellitus Diabetes Mellitus GENOMICS_ENGLAND_DG 24411943
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 17146289, 18056173, 26847175, 30210629
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 20830616
★☆☆☆☆
Found in Text Mining only