NKX2-5

GENE INFORMATION

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Gene name

NKX2-5 (HGNC Symbol)

Synonyms

CSX, CSX1, NKX2.5, NKX2E, NKX4-1

Description

NK2 homeobox 5 (HGNC Symbol)

Entrez gene 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]

Chromosome

5

Cytoband

q35.1

Chromosome location (bp)

173232109 - 173235357

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183072 (version 78.38)

Entrez gene

1482

UniProt

P52952 (UniProt - Evidence at protein level)

neXtProt

NX_P52952

Antibodypedia

NKX2-5 antibodies
 

PROTEIN VIEW

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NKX2-5-001
 
NKX2-5-002
 
NKX2-5-003
 
NKX2-5-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NKX2-5-001 ENSP00000327758
ENST00000329198
P52952
Show all »
Show » Show » 324 34.9 No 0
NKX2-5-002 ENSP00000429905
ENST00000517440
E5RH49
Show all »
Show » 142 15 No 0
NKX2-5-003 ENSP00000395378
ENST00000424406
P52952
Show all »
Show » Show » 112 11.7 No 0
NKX2-5-004 ENSP00000427906
ENST00000521848
P52952
Show all »
Show » Show » 151 16.1 No 0