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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EVX1
even-skipped homeobox 1
Chromosome 7 · 7p15.2
NCBI Gene: 2128Ensembl: ENSG00000106038.13HGNC: HGNC:3506UniProt: B4DRC0
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingregulation of transcription by RNA polymerase IIAbnormality of the skeletal systemhypertensionessential hypertensionulcerative colitis
✦AI Summary

EVX1 (even-skipped homeobox 1) is a transcription factor that plays critical roles in early embryonic development and respiratory system formation. The protein contains a homeodomain closely related to the Drosophila even-skipped gene and functions as a transcriptional repressor through its carboxyl-terminal proline/alanine-rich region 1. EVX1 is essential for early post-implantation development, as targeted disruption in mice causes embryonic lethality shortly after implantation, with failure to form proper extraembryonic tissues and egg cylinders 2. In respiratory development, EVX1 is required for specification of the pre-Bötzinger complex neurons, which are crucial for respiratory rhythm generation 3. The gene is located on chromosome 7 at the 5' end of the HOX1 locus and is transcribed in opposite orientation to adjacent HOX genes 4. In cancer contexts, EVX1 shows tumor suppressor characteristics in esophageal squamous cell carcinoma (ESCC), where its underexpression correlates with lymph node metastasis and tumor invasiveness 56. Additionally, genome-wide association studies have identified EVX1 variants associated with resistant hypertension, suggesting roles in cardiovascular pathways 7.

Sources cited
1
EVX1 functions as a transcriptional repressor through its carboxyl-terminal proline/alanine-rich region
PMID: 7499236
2
EVX1 is essential for early post-implantation development and embryonic survival
PMID: 7958869
3
EVX1 is required for specification of pre-Bötzinger complex neurons involved in respiratory rhythm generation
PMID: 21527363
4
EVX1 is located on chromosome 7 at the 5' end of HOX1 locus and transcribed opposite to HOX genes
PMID: 1684419
5
EVX1 underexpression correlates with lymph node metastasis and tumor invasion in ESCC
PMID: 26552663
6
EVX1 underexpression is associated with ESCC invasiveness and metastasis
PMID: 36337061
7
EVX1 variants are associated with resistant hypertension in genome-wide association studies
PMID: 41404655
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.30Weak
hypertensionOpen Targets
0.23Weak
essential hypertensionOpen Targets
0.21Weak
ulcerative colitisOpen Targets
0.19Weak
prostate carcinomaOpen Targets
0.15Weak
alopecia areataOpen Targets
0.13Weak
Increased blood pressureOpen Targets
0.13Weak
heart failureOpen Targets
0.11Weak
cardiovascular diseaseOpen Targets
0.10Suggestive
alcohol drinkingOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
amyotrophic lateral sclerosisOpen Targets
0.07Suggestive
potassium deficiency diseaseOpen Targets
0.06Suggestive
endometriosisOpen Targets
0.06Suggestive
major depressive disorderOpen Targets
0.06Suggestive
ovarian dysfunctionOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
hereditary neuropathy with liability to pressure palsiesOpen Targets
0.04Suggestive
amyotrophic lateral sclerosis type 22Open Targets
0.04Suggestive
posterior cortical atrophyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ISL1Protein interaction76%LHX1Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
17%
Ovary
17%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
EVX1ISL1LHX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P49640
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.52–1.10]
RankingsWhere EVX1 stands among ~20K protein-coding genes
  • #16,155of 20,598
    Most Researched13
  • #11,190of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedEVX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Isolation and mapping of EVX1, a human homeobox gene homologous to even-skipped, localized at the 5' end of HOX1 locus on chromosome 7.
PMID: 1684419
Nucleic Acids Res · 1991
1.00
2
Contribution of TWIST1-EVX1 Axis in Invasiveness of Esophageal Squamous Cell Carcinoma; a Functional Study.
PMID: 36337061
Iran J Biotechnol · 2022
0.90
3
GWAS and Replication Analysis of Apparent Treatment-Resistant Hypertension.
PMID: 41404655
Hypertension · 2026
0.80
4
Transcriptional repression by the human homeobox protein EVX1 in transfected mammalian cells.
PMID: 7499236
J Biol Chem · 1995
0.70
5
Targeted disruption of the even-skipped gene, evx1, causes early postimplantation lethality of the mouse conceptus.
PMID: 7958869
Genes Dev · 1994
0.60