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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HMX2
H6 family homeobox 2
Chromosome 10 · 10q26.13
NCBI Gene: 3167Ensembl: ENSG00000188816.4HGNC: HGNC:5018UniProt: A2RU54
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleuschromatinDNA-binding transcription factor activity, RNA polymerase II-specificplacental retentionpremature birththyroid cancerdiverticular disease
✦AI Summary

HMX2 is a transcription factor belonging to the NKL homeobox gene family that functions as a sequence-specific DNA-binding regulator of RNA polymerase II-dependent transcription 1. Its primary role involves specification of intercalated cell subtypes in the kidney collecting duct, where it directs type B intercalated cell differentiation through mutually antagonistic interactions with the transcription factor Dmrt2 23. HMX2 expression is restricted to type B and non-A/non-B intercalated cells, where it activates subtype-specific bicarbonate transporter genes (Slc26a4) essential for systemic acid-base homeostasis 2. Additionally, HMX2 participates in inner ear and hypothalamus development 4. Disease relevance includes acute myeloid leukemia (AML), where aberrant HMX2 expression occurs in ~31% of patients with KMT2A/MLL rearrangements, promoting myeloid differentiation arrest through suppression of differentiation genes and activation of oncogenic pathways 5. HMX2 variants have also been implicated in Ménière's disease, affecting inner ear structural integrity 4. As a transcriptional regulator with significant trans-eQTL effects on multiple genes 1, HMX2 represents a potential therapeutic target for kidney acid-base disorders and hematologic malignancies.

Sources cited
1
HMX2 directs type B intercalated cell differentiation through antagonistic interactions with Dmrt2 and activates Slc26a4 expression
PMID: 40354537
2
HMX2 is required for type B intercalated cell differentiation and has mutually exclusive expression with Dmrt2
PMID: 41051882
3
HMX2 functions as a transcription factor with significant trans-eQTL effects on multiple genes
PMID: 25010687
4
Aberrant HMX2 expression in AML (~31% in KMT2A-rearranged cases) promotes myeloid differentiation arrest and activates oncogenic pathways
PMID: 33048949
5
HMX2 variant p.Y273N is associated with Ménière's disease and affects inner ear development
PMID: 31106404
6
HMX2 is essential for intercalated cell subtype specification downstream of Foxp1
PMID: 40466010
Disease Associationsⓘ20
placental retentionOpen Targets
0.24Weak
premature birthOpen Targets
0.24Weak
thyroid cancerOpen Targets
0.22Weak
diverticular diseaseOpen Targets
0.22Weak
alcohol drinkingOpen Targets
0.22Weak
liver diseaseOpen Targets
0.11Weak
insomniaOpen Targets
0.11Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
subarachnoid hemorrhageOpen Targets
0.11Weak
nail anomalyOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.07Suggestive
hearing loss, autosomal recessiveOpen Targets
0.06Suggestive
hearing loss, autosomal dominant 87Open Targets
0.06Suggestive
hearing loss, autosomal dominant 80Open Targets
0.06Suggestive
deafnessOpen Targets
0.06Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.05Suggestive
hearing loss, autosomal dominant 86Open Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 4Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HMX3Co-mentioned in literature40%DMRT2Co-mentioned in literature30%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Lung
0%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HMX2HMX3DMRT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A2RU54
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.53–1.21]
RankingsWhere HMX2 stands among ~20K protein-coding genes
  • #16,186of 20,598
    Most Researched13
  • #12,776of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedHMX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dmrt2 and Hmx2 direct intercalated cell diversity in the mammalian kidney through antagonistic and supporting regulatory processes.
PMID: 40354537
Proc Natl Acad Sci U S A · 2025
1.00
2
Cis and trans effects of human genomic variants on gene expression.
PMID: 25010687
PLoS Genet · 2014
0.90
3
Hmx2 and Dmrt2 Coordinate the Differentiation of Intercalated Cell Subtypes in Kidney.
PMID: 41051882
J Am Soc Nephrol · 2026
0.80
4
Novel insights in the regulation of intercalated cell differentiation.
PMID: 40466010
Curr Opin Nephrol Hypertens · 2025
0.70
5
Unveiling the whole genomic features and potential probiotic characteristics of novel
PMID: 39611087
Front Microbiol · 2024
0.60