NKX2-5
Gene Information
- Official Symbol: NKX2-5
- Official Name: NK2 homeobox 5
- Aliases and Previous Symbols: N/A
- Entrez ID: 1482
- UniProt: P52952
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
- UniProt Summary: Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development. {ECO:0000250|UniProtKB:P42582, ECO:0000269|PubMed:22560297, ECO:0000269|PubMed:22849347, ECO:0000269|PubMed:26926761}.
Pfam Domains GO Terms
Pfam Domains
| Homeobox |
GO Terms
| cardiac pacemaker cell fate commitment |
| Purkinje myocyte differentiation |
| atrioventricular node cell fate commitment |
| His-Purkinje system cell differentiation |
| atrioventricular node cell differentiation |
| pulmonary myocardium development |
| atrioventricular node cell development |
| atrial cardiac muscle cell development |
| atrial cardiac muscle cell differentiation |
| Purkinje myocyte development |
| cardiac septum cell differentiation |
| serum response element binding |
| right ventricular cardiac muscle tissue morphogenesis |
| septum transversum development |
| atrioventricular node development |
| septum secundum development |
| ventricular cardiac myofibril assembly |
| proepicardium development |
| positive regulation of transcription via serum response element binding |
| apoptotic process involved in heart morphogenesis |
| embryonic heart tube left/right pattern formation |
| bundle of His development |
| cardiac pacemaker cell development |
| cardiac pacemaker cell differentiation |
| His-Purkinje system development |
| cardiac muscle cell fate commitment |
| positive regulation of cardioblast differentiation |
| regulation of cardioblast differentiation |
| cardiac cell fate commitment |
| cardiac ventricle formation |
| ventricular cardiac muscle cell development |
| cardiac chamber formation |
| cardiac conduction system development |
| heart trabecula formation |
| cardiac muscle cell proliferation |
| venous blood vessel development |
| adult heart development |
| striated muscle cell proliferation |
| muscle cell fate commitment |
| ventricular trabecula myocardium morphogenesis |
| ventricular cardiac muscle cell differentiation |
| atrial septum morphogenesis |
| apoptotic process involved in morphogenesis |
| muscle cell proliferation |
| positive regulation of transcription initiation from RNA polymerase II promoter |
| negative regulation of myotube differentiation |
| cardiac right ventricle morphogenesis |
| positive regulation of stem cell differentiation |
| left/right pattern formation |
| atrial septum development |
| negative regulation of cardiac muscle cell apoptotic process |
| trabecula formation |
| thyroid gland development |
| cardiac myofibril assembly |
| negative regulation of striated muscle cell apoptotic process |
| positive regulation of DNA-templated transcription, initiation |
| pharyngeal system development |
| apoptotic process involved in development |
| regulation of transcription initiation from RNA polymerase II promoter |
| cardiac muscle tissue growth |
| positive regulation of cardiocyte differentiation |
| outflow tract septum morphogenesis |
| heart growth |
| cardiac atrium morphogenesis |
| heart trabecula morphogenesis |
| spleen development |
| positive regulation of sodium ion transport |
| cardiac atrium development |
| regulation of DNA-templated transcription, initiation |
| negative regulation of muscle cell apoptotic process |
| regulation of cardiac muscle cell apoptotic process |
| negative regulation of striated muscle cell differentiation |
| positive regulation of heart contraction |
| regulation of striated muscle cell apoptotic process |
| regulation of cardiac muscle cell proliferation |
| ventricular septum morphogenesis |
| protein-DNA complex |
| trabecula morphogenesis |
| sarcomere organization |
| ventricular cardiac muscle tissue morphogenesis |
| regulation of cardiocyte differentiation |
| negative regulation of muscle cell differentiation |
| ventricular cardiac muscle tissue development |
| regulation of myotube differentiation |
| regulation of cardiac muscle tissue growth |
| cardiac muscle cell development |
| heart looping |
| regulation of heart growth |
| cardiac cell development |
| myofibril assembly |
| determination of heart left/right asymmetry |
| embryonic heart tube morphogenesis |
| regulation of cardiac conduction |
| cardiac muscle tissue morphogenesis |
| regulation of muscle cell apoptotic process |
| vasculogenesis |
| positive regulation of blood circulation |
| RNA polymerase II transcription factor complex |
| ventricular septum development |
| cardiac septum morphogenesis |
| outflow tract morphogenesis |
| cardiac ventricle morphogenesis |
| regulation of cardiac muscle contraction |
| embryonic heart tube development |
| cardiac muscle contraction |
| regulation of cardiac muscle tissue development |
| muscle tissue morphogenesis |
| muscle organ morphogenesis |
| heart contraction |
| regulation of sodium ion transport |
| cardiac muscle cell differentiation |
| BMP signaling pathway |
| canonical Wnt signaling pathway |
| regulation of striated muscle contraction |
| regulation of organ growth |
| organ growth |
| heart process |
| regulation of striated muscle cell differentiation |
| cellular component assembly involved in morphogenesis |
| response to BMP |
| cellular response to BMP stimulus |
| striated muscle contraction |
| cardiac septum development |
| actomyosin structure organization |
| cardiocyte differentiation |
| determination of left/right symmetry |
| regulation of stem cell differentiation |
| endocrine system development |
| determination of bilateral symmetry |
| specification of symmetry |
| cardiac chamber morphogenesis |
| cardiac ventricle development |
| regulation of striated muscle tissue development |
| striated muscle cell development |
| regulation of muscle tissue development |
| regulation of muscle organ development |
| muscle cell development |
| regulation of muscle cell differentiation |
| regulation of muscle contraction |
| cardiac muscle tissue development |
| cardiac chamber development |
| negative regulation of canonical Wnt signaling pathway |
| transmembrane receptor protein serine/threonine kinase signaling pathway |
| striated muscle cell differentiation |
| transcription factor complex |
| negative regulation of Wnt signaling pathway |
| transcription regulatory region DNA binding |
| mesenchyme development |
| regulation of muscle system process |
| regulation of heart contraction |
| muscle cell differentiation |
| cell fate commitment |
| heart morphogenesis |
| muscle contraction |
| positive regulation of ion transport |
| regulation of canonical Wnt signaling pathway |
| striated muscle tissue development |
| regulation of blood circulation |
| embryonic organ morphogenesis |
| muscle organ development |
| muscle tissue development |
| muscle system process |
| epithelial tube morphogenesis |
| regulation of developmental growth |
| regionalization |
| transcription factor binding |
| cell-cell signaling by wnt |
| Wnt signaling pathway |
| regulation of Wnt signaling pathway |
| positive regulation of neuron differentiation |
| regulation of metal ion transport |
| developmental growth |
| blood circulation |
| growth |
| chromatin binding |
| circulatory system process |
| blood vessel morphogenesis |
| gland development |
| sequence-specific DNA binding |
| cell surface receptor signaling pathway involved in cell-cell signaling |
| morphogenesis of an epithelium |
| embryonic organ development |
| pattern specification process |
| DNA-binding transcription activator activity, RNA polymerase II-specific |
| supramolecular fiber organization |
| positive regulation of neurogenesis |
| muscle structure development |
| blood vessel development |
| protein heterodimerization activity |
| actin cytoskeleton organization |
| cellular response to growth factor stimulus |
| RNA polymerase II proximal promoter sequence-specific DNA binding |
| vasculature development |
| cardiovascular system development |
| heart development |
| response to growth factor |
| positive regulation of nervous system development |
| positive regulation of cell development |
| cell population proliferation |
| hemopoiesis |
| tissue morphogenesis |
| embryonic morphogenesis |
| actin filament-based process |
| regulation of system process |
| protein-containing complex |
| hematopoietic or lymphoid organ development |
| chordate embryonic development |
| immune system development |
| embryo development ending in birth or egg hatching |
| tube morphogenesis |
| regulation of neuron differentiation |
| regulation of growth |
| DNA-binding transcription factor activity |
| regulation of ion transport |
| negative regulation of cell differentiation |
| enzyme linked receptor protein signaling pathway |
| organelle assembly |
| regulation of neurogenesis |
| cellular component morphogenesis |
| tube development |
| negative regulation of transcription by RNA polymerase II |
| circulatory system development |
| protein homodimerization activity |
| negative regulation of apoptotic process |
| anatomical structure formation involved in morphogenesis |
| negative regulation of programmed cell death |
| positive regulation of cell population proliferation |
| apoptotic process |
| regulation of nervous system development |
| regulation of cell development |
| negative regulation of developmental process |
| animal organ morphogenesis |
| positive regulation of cell differentiation |
| embryo development |
| positive regulation of transport |
| negative regulation of cell death |
| programmed cell death |
| cell death |
| cytoskeleton organization |
| epithelium development |
| cell-cell signaling |
| negative regulation of transcription, DNA-templated |
| positive regulation of transcription by RNA polymerase II |
| cellular response to endogenous stimulus |
| negative regulation of nucleic acid-templated transcription |
| negative regulation of RNA biosynthetic process |
| negative regulation of signal transduction |
| negative regulation of RNA metabolic process |
| negative regulation of cell communication |
| negative regulation of signaling |
| positive regulation of developmental process |
| negative regulation of cellular macromolecule biosynthetic process |
| negative regulation of nucleobase-containing compound metabolic process |
| DNA binding |
| negative regulation of macromolecule biosynthetic process |
| response to endogenous stimulus |
| negative regulation of cellular biosynthetic process |
| generation of neurons |
| regulation of apoptotic process |
| positive regulation of transcription, DNA-templated |
| negative regulation of biosynthetic process |
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| regulation of programmed cell death |
| regulation of cell population proliferation |
| negative regulation of response to stimulus |
| neurogenesis |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| cell development |
| regulation of cell death |
| negative regulation of gene expression |
| positive regulation of RNA metabolic process |
| positive regulation of multicellular organismal process |
| tissue development |
| regulation of cell differentiation |
| regulation of transport |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| system process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| Senexin-A 25μM R07 exp400 | -2.21 |
| Demecolcine 0.03μM R05 exp228 | -2.06 |
| Pifithrin-alpha 20μM R07 exp390 | -1.81 |
| Sulforaphane 9μM R08 exp525 | -1.73 |
| Cycloheximide 0.02μM R00 exp14 | -1.71 |
| CCT251545 0.2μM R06 exp271 | 1.89 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 1/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 1/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 11794
- Expression level (log2 read counts): -7.68
Expression Distribution
NKX2-5 Expression in NALM6 Cells: -7.68
