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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZFHX2
zinc finger homeobox 2
Chromosome 14 · 14q11.2
NCBI Gene: 85446Ensembl: ENSG00000136367.15HGNC: HGNC:20152UniProt: A0A2P1H683
16PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusregulation of sensory perception of painRNA polymerase II cis-regulatory region sequence-specific DNA bindingcongenital insensitivity to pain syndrome, Marsili typeptosisDysphagiaeyelid disease
✦AI Summary

ZFHX2 is a transcriptional regulator critical for pain perception and noxious stimulus processing. As a zinc finger homeobox protein containing three homeobox domains and 18 zinc-finger motifs, ZFHX2 functions as a DNA-binding transcription factor expressed in small diameter sensory neurons and differentiating neurons in the brain 1. ZFHX2 regulates genes implicated in peripheral pain mechanisms, with both null mutations and point mutations (p.R1913K) causing significant pain insensitivity characterized by hyposensitivity to noxious heat and painless bone fractures 1. In the brain, ZFHX2 influences emotional processing through monoaminergic neurons; Zfhx2-deficient mice display hyperactivity, enhanced depression-like behaviors, and altered anxiety phenotypes 2. Mutations in ZFHX2 cause Marsili syndrome, an autosomal dominant disorder characterized by recurrent fever, anhidrosis, pain insensitivity, and diminished corneal reflexes—clinically distinct from congenital insensitivity to pain with anhidrosis (CIPA) 3. ZFHX2-AS1, a long non-coding RNA antisense to ZFHX2, functions as a tumor suppressor in ovarian cancer and shows altered expression in various pathological conditions including hepatitis B and cirrhosis 4, 5, 6. These findings identify ZFHX2 as a human-validated analgesic drug target with potential therapeutic applications for chr14 pain management.

Sources cited
1
ZFHX2 is a transcription factor expressed in small diameter sensory neurons; mutations cause pain insensitivity and alter pain-related gene expression
PMID: 29253101
2
Zfhx2-deficient mice show hyperactivity, depression-like behaviors, and altered anxiety phenotypes related to monoaminergic neuron function
PMID: 23300874
3
ZFHX2 mutations cause Marsili syndrome, an autosomal dominant disorder with fever, anhidrosis, and pain insensitivity
PMID: 35768377
4
ZFHX2-AS1 (long non-coding RNA) functions as a tumor suppressor in ovarian cancer
PMID: 39368791
5
ZFHX2-AS1 expression is consistently lower in hepatitis B patient subgroups
PMID: 39733424
6
ZFHX2-AS1 expression is inversely associated with advanced cirrhosis and clinically significant portal hypertension
PMID: 36628818
Disease Associationsⓘ21
congenital insensitivity to pain syndrome, Marsili typeOpen Targets
0.52Moderate
DysphagiaOpen Targets
0.18Weak
ptosisOpen Targets
0.18Weak
eyelid diseaseOpen Targets
0.17Weak
neoplasmOpen Targets
0.07Suggestive
acute tonsillitisOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
schizophrenia 15Open Targets
0.03Suggestive
Phelan-McDermid syndromeOpen Targets
0.03Suggestive
age-related macular degenerationOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
hepatitis B virus infectionOpen Targets
0.01Suggestive
oculocutaneous albinismOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Marsili syndromeUniProt
Pathogenic Variants1
NM_033400.3(ZFHX2):c.5738G>A (p.Arg1913Lys)Pathogenic
Indifference to pain, congenital, autosomal dominant
☆☆☆☆2018→ Residue 1913
View on ClinVar ↗
Related Genes
SMR3BShared pathway100%SMR3AShared pathway100%OPRPNShared pathway100%PIRTShared pathway100%ACP3Shared pathway33%TMEM100Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Ovary
48%
Liver
23%
Lung
22%
Heart
20%
Bone Marrow
17%
Gene Interaction Network
Click a node to explore
ZFHX2SMR3BSMR3AOPRPNPIRTACP3TMEM100
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9C0A1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.40–0.60]
RankingsWhere ZFHX2 stands among ~20K protein-coding genes
  • #15,448of 20,598
    Most Researched16
  • #5,426of 5,498
    Most Pathogenic Variants1
  • #4,171of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedZFHX2
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
ZFHX2-AS1 interacts with DKC1 to regulate ARHGAP5 pseudouridylation and suppress ovarian cancer progression.
PMID: 39368791
Cell Signal · 2024
0.88
3
[Marsili syndrome manifested by fever: a case report and literature review].
PMID: 35768377
Zhonghua Jie He He Hu Xi Za Zhi · 2022
0.75
4
Behavioral abnormalities observed in Zfhx2-deficient mice.
PMID: 23300874
PLoS One · 2012
0.63
5
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
PMID: 29253101
Brain · 2018
0.50