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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DCHS2
dachsous cadherin-related 2
Chromosome 4 · 4q31.3
NCBI Gene: 54798Ensembl: ENSG00000197410HGNC: HGNC:23111UniProt: A0A0A0MRC0
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingaxonogenesisepithelial cell differentiationplasma membraneauditory system diseasethyrotoxic periodic paralysisGraves diseasetrigeminal nerve disease
✦AI Summary

DCHS2 (dachsous cadherin-related 2) is a calcium-dependent cell-adhesion protein that plays critical roles in development and disease through regulation of cellular morphogenesis and differentiation. DCHS2 functions in partnership with Fat protocadherins to control polarized cell-cell intercalation during craniofacial development, coordinating cartilage differentiation through Sox9 regulation 1. The protein is essential for normal hypothalamic-pituitary development, with DCHS2 deficiency causing anterior pituitary hypoplasia and infundibular defects in mouse models 2. In cardiac tissue, DCHS2 acts as a molecular switch determining pathological versus physiological cardiac growth - overexpression promotes pathological hypertrophy and impaired regeneration, while deletion induces beneficial physiological hypertrophy and cardiomyogenesis through Hippo/Yap1 signaling modulation 3. DCHS2 variants are associated with multiple human conditions including facial morphology variation 4, bone metabolism affecting compressive strength and lean mass 5, cognitive impairment and Alzheimer's disease 6, epilepsy susceptibility 7, and pituitary developmental defects 2. Additionally, frameshift mutations in DCHS2 occur specifically in microsatellite-unstable gastric and colorectal cancers, potentially disrupting cell adhesion functions 8. These findings establish DCHS2 as a multifunctional developmental regulator with significant clinical implications.

Sources cited
1
DCHS2 acts as molecular switch in cardiac growth, with overexpression causing pathological hypertrophy and deletion promoting physiological hypertrophy
PMID: 35114812
2
DCHS2 is required for normal hypothalamic-pituitary development, with deficiency causing anterior pituitary hypoplasia
PMID: 33108146
3
DCHS2 partners with Fat3 to control polarized cell-cell intercalation and cartilage differentiation through Sox9 regulation
PMID: 25340762
4
DCHS2 variants are associated with human facial morphology variation
PMID: 27193062
5
DCHS2 variants influence bone compressive strength index and appendicular lean mass
PMID: 22960237
6
DCHS2 gene variants are associated with mild cognitive impairment and Alzheimer's disease
PMID: 26876984
7
DCHS2 locus is associated with epilepsy risk in north Indian population
PMID: 39904507
8
DCHS2 frameshift mutations occur specifically in microsatellite-unstable gastric and colorectal cancers
PMID: 24898286
Disease Associationsⓘ20
auditory system diseaseOpen Targets
0.48Moderate
thyrotoxic periodic paralysisOpen Targets
0.31Weak
Graves diseaseOpen Targets
0.30Weak
trigeminal nerve diseaseOpen Targets
0.29Weak
secondary malignant neoplasmOpen Targets
0.27Weak
mastodyniaOpen Targets
0.25Weak
prostatitisOpen Targets
0.21Weak
pituitary stalk interruption syndromeOpen Targets
0.19Weak
bone remodeling diseaseOpen Targets
0.16Weak
crystal arthropathyOpen Targets
0.16Weak
subarachnoid hemorrhageOpen Targets
0.14Weak
multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
deep vein thrombosisOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.06Suggestive
head injuryOpen Targets
0.06Suggestive
venous thromboembolismOpen Targets
0.06Suggestive
VertigoOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DCHS1Protein interaction91%CDHR2Shared pathway67%FAT4Shared pathway44%FAT2Shared pathway33%CELSR3Shared pathway33%DSC3Shared pathway30%
Tissue Expression6 tissues
Brain
100%
Ovary
64%
Lung
8%
Liver
5%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
DCHS2DCHS1CDHR2FAT4FAT2CELSR3DSC3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6V1P8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.69–0.91]
RankingsWhere DCHS2 stands among ~20K protein-coding genes
  • #13,883of 20,598
    Most Researched21
  • #8,282of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedDCHS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
lncExACT1 and DCHS2 Regulate Physiological and Pathological Cardiac Growth.
PMID: 35114812
Circulation · 2022
1.00
2
Association between DCHS2 gene and mild cognitive impairment and Alzheimer's disease in an elderly Brazilian sample.
PMID: 26876984
Int J Geriatr Psychiatry · 2016
0.90
3
Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
PMID: 33108146
JCI Insight · 2020
0.80
4
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.
PMID: 27193062
Nat Commun · 2016
0.70
5
Frameshift mutations of cadherin genes DCHS2, CDH10 and CDH24 genes in gastric and colorectal cancers with high microsatellite instability.
PMID: 24898286
Pathol Oncol Res · 2015
0.60