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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DMXL2
Dmx like 2
Chromosome 15 Β· 15q21.2
NCBI Gene: 23312Ensembl: ENSG00000104093.14HGNC: HGNC:2938UniProt: H0YLM8
47PubMed Papers
23Diseases
0Drugs
61Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
small GTPase bindingGO:0005615synaptic vesicleRAVE complexgenetic developmental and epileptic encephalopathyautosomal dominant nonsyndromic hearing losspolyendocrine-polyneuropathy syndromedeafness
✦AI Summary

DMXL2 is a scaffold protein that assembles the metazoan V-ATPase complex, functioning as part of the mRAVE (metazoan RAVE) complex alongside ROGDI and WDR7 1. Within this complex, DMXL2 interacts with V1 and VO subunits to facilitate their association upon proton gradient dissipation, enabling lysosomal acidification and synaptic vesicle function 1. In hair cells, DMXL2 is essential for synaptic vesicle endocytosis and recycling at ribbon synapses, maintaining the reserve pool of vesicles critical for sustained neurotransmission 2. Additionally, DMXL2 promotes V1-ATPase recruitment to lysosomes in response to TRPML1 activation, with DMXL2-deficient cells showing reduced V1 recruitment, increased lysosomal pH, and diminished hydrolytic capacity 3. In the hypothalamus, DMXL2 expression increases during postnatal development and pubertal transition, suggesting a role in neuroendocrine regulation of reproduction 4. Disease associations include autosomal dominant nonsyndromic sensorineural hearing loss (DFNA71) 25, developmental and epileptic encephalopathy 81, and neurodevelopmental disorders including autism spectrum disorder 6. Mutations cause impaired synaptic function and disrupted homeostatic processes, highlighting DMXL2's critical role in neuronal and endocrine function.

Sources cited
1
DMXL2 is a core component of the metazoan RAVE complex that assembles V-ATPase by facilitating V1-VO association
PMID: 40646309
2
DMXL2 is recruited to lysosomes and required for TRPML1-dependent V1-ATPase recruitment and lysosomal acidification
PMID: 40527988
3
DMXL2 is essential for synaptic endocytosis and recycling of synaptic vesicles in hair cells; mutations cause DFNA71 hearing loss
PMID: 39147590
4
DMXL2 expression increases during postnatal development and puberty in the hypothalamus, suggesting involvement in reproductive neuroendocrine regulation
PMID: 27957681
5
DMXL2 missense variants cause autosomal dominant non-syndromic sensorineural hearing impairment
PMID: 33715530
6
DMXL2 disruption through CNVs and loss-of-function variants is associated with neurodevelopmental disorders including autism spectrum disorder
PMID: 30732576
7
DMXL2 mutations have been identified in patients with phenotypic expansion beyond initially reported disease associations
PMID: 30237576
Disease Associationsβ“˜23
genetic developmental and epileptic encephalopathyOpen Targets
0.66Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.57Moderate
polyendocrine-polyneuropathy syndromeOpen Targets
0.51Moderate
deafnessOpen Targets
0.47Moderate
early-infantile DEEOpen Targets
0.46Moderate
sensorineural hearing lossOpen Targets
0.42Moderate
hearing loss, autosomal recessiveOpen Targets
0.42Moderate
autism spectrum disorderOpen Targets
0.41Moderate
intelligenceOpen Targets
0.36Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
insomniaOpen Targets
0.29Weak
malignant renal pelvis neoplasmOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
cardiac transplantOpen Targets
0.28Weak
osteoarthritis, kneeOpen Targets
0.27Weak
medical procedureOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.23Weak
stricture or kinking of ureterOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
Deafness, autosomal dominant, 71UniProt
Developmental and epileptic encephalopathy 81UniProt
Polyendocrine-polyneuropathy syndromeUniProt
Pathogenic Variants61
NM_001378457.1(DMXL2):c.3759_3760del (p.Trp1254fs)Pathogenic
not provided|DMXL2-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1254
NM_001378457.1(DMXL2):c.2620_2621del (p.Glu874fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 874
NM_001378457.1(DMXL2):c.4177C>T (p.Arg1393Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1393
NM_001378457.1(DMXL2):c.6550C>T (p.Gln2184Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2184
NM_001378457.1(DMXL2):c.6412C>T (p.Arg2138Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2138
NM_001378457.1(DMXL2):c.7710del (p.Asn2571fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2571
NM_001378457.1(DMXL2):c.2729G>A (p.Trp910Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 910
NM_001378457.1(DMXL2):c.6222_6223del (p.Tyr2074_Asn2075delinsTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2074
NM_001378457.1(DMXL2):c.4876C>T (p.Gln1626Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1626
NM_001378457.1(DMXL2):c.8508_8509insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATATGAACTCATCATTTTTTATGGCTGCATAGTATTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTAGATTATATTTT (p.Asn2837delinsPhePhePhePhePhePheXaaXaaXaaXaaIleTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2837
NM_001378457.1(DMXL2):c.655C>T (p.Gln219Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 219
NM_001378457.1(DMXL2):c.5691C>A (p.Cys1897Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1897
NC_000015.10:g.51451683_51451698delPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001378457.1(DMXL2):c.1737dup (p.His580fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 580
NM_001378457.1(DMXL2):c.697C>T (p.Arg233Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 233
NM_001378457.1(DMXL2):c.8527-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001378457.1(DMXL2):c.5294C>G (p.Ser1765Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1765
NM_001378457.1(DMXL2):c.2992+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001378457.1(DMXL2):c.710del (p.Gly237fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 237
NM_001378457.1(DMXL2):c.7417_7418dup (p.Ile2475fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 2475
View on ClinVar β†—
Related Genes
MADDProtein interaction99%RAB3GAP1Protein interaction94%RAB3GAP2Protein interaction85%ATP6V1E1Protein interaction73%WDR7Protein interaction72%DMXL1Shared pathway68%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
25%
Lung
18%
Ovary
12%
Liver
10%
Heart
8%
Gene Interaction Network
Click a node to explore
DMXL2MADDRAB3GAP1RAB3GAP2ATP6V1E1WDR7DMXL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TDJ6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.30 [0.25–0.36]
RankingsWhere DMXL2 stands among ~20K protein-coding genes
  • #9,196of 20,598
    Most Researched47
  • #1,159of 5,498
    Most Pathogenic Variants61 Β· top quartile
  • #1,615of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedDMXL2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
DMXL1 promotes recruitment of V1-ATPase to lysosomes upon TRPML1 activation.
PMID: 40527988
Nat Struct Mol Biol Β· 2025
1.00
2
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
0.90
3
DMXL2 Is Required for Endocytosis and Recycling of Synaptic Vesicles in Auditory Hair Cells.
PMID: 39147590
J Neurosci Β· 2024
0.80
4
Dynamic Regulation of Hypothalamic DMXL2, KISS1, and RFRP Expression During Postnatal Development in Non-Human Primates.
PMID: 27957681
Mol Neurobiol Β· 2017
0.70
5
Epileptic encephalopathies and progressive neurodegeneration.
PMID: 38582661
Rev Neurol (Paris) Β· 2024
0.60