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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DIAPH1
diaphanous related formin 1
Chromosome 5 Β· 5q31.3
NCBI Gene: 1729Ensembl: ENSG00000131504.18HGNC: HGNC:2876UniProt: A0A2R8Y5N1
203PubMed Papers
22Diseases
0Drugs
60Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingprotein bindingtransmembrane transporter bindingregulation of microtubule-based processprogressive microcephaly-seizures-cortical blindness-developmental delay syndromeautosomal dominant nonsyndromic hearing loss 1deafnessDIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
✦AI Summary

DIAPH1 (diaphanous related formin 1) is an actin nucleation and elongation factor that regulates F-actin assembly and cytoskeletal organization 1. Beyond its classical role in actin dynamics, DIAPH1 functions as a multifaceted signaling scaffold. It interacts with RAGE (receptor for advanced glycation end products) to regulate metabolic and inflammatory signaling, and couples with Rho signaling pathways to promote microtubule stabilization through APC localization 23. DIAPH1 also directly binds Mitofusin-2 to regulate mitochondria-ER contact sites, modulating oxidative stress and mitophagyβ€”critical during ischemic stress 4. Disease relevance is substantial: DIAPH1 mutations cause sensorineural deafness and seizures with cortical blindness and microcephaly syndrome (SCBMS) 1. Loss-of-function mutations impair T cell proliferation, activation, and STAT5 signaling, alongside diminished NK cell cytotoxicity and reduced helper ILC populations, establishing DIAPH1's critical role in lymphocyte development and function 5. Elevated DIAPH1 in extracellular vesicles from HCV patients persists after viral clearance, suggesting involvement in hepatic fibrosis progression 6. The RAGE/DIAPH1 axis contributes to obesity, cardiometabolic dysfunction, atherosclerosis, and diabetic neuropathy 237. Recent work demonstrates AGER-DIAPH1 interaction mediates macropinocytosis-dependent chemotherapy resistance in pancreatic cancer 8.

Sources cited
1
DIAPH1 mutations cause sensorineural hearing loss and other inherited disorders; formins linked to multiple human diseases
PMID: 34685534
2
DIAPH1 interacts with Mitofusin-2 to regulate mitochondria-SR/ER contact, affecting mitochondrial turnover and oxidative stress
PMID: 37903764
3
RAGE/DIAPH1 axis mediates obesity pathogenesis and cardiometabolic dysfunction through AGE signaling
PMID: 36448548
4
DIAPH1-deficient T cells show proliferation and signaling defects; NK cells display diminished cytotoxicity; helper ILC populations dramatically reduced
PMID: 39120629
5
DIAPH1 is upregulated in extracellular vesicles of HCV patients after viral cure, associated with persistent fibrogenic signals
PMID: 34271004
6
RAGE/DIAPH1 signaling contributes to atherosclerosis progression; DIAPH1 deletion attenuates atherosclerosis in mouse models
PMID: 39131441
7
RAGE and DIAPH1 interact in peripheral diabetic neuropathy pathogenesis through cytoskeletal disruption and axonal dysfunction
PMID: 34449932
8
AGER-DIAPH1 interaction drives macropinocytosis-dependent chemotherapy resistance in pancreatic cancer; dual inhibition enhances KRAS-G12D targeting
PMID: 39879317
Disease Associationsβ“˜22
progressive microcephaly-seizures-cortical blindness-developmental delay syndromeOpen Targets
0.78Strong
autosomal dominant nonsyndromic hearing loss 1Open Targets
0.75Strong
deafnessOpen Targets
0.55Moderate
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndromeOpen Targets
0.47Moderate
nonsyndromic genetic hearing lossOpen Targets
0.41Moderate
Intellectual disabilityOpen Targets
0.41Moderate
hearing lossOpen Targets
0.37Weak
Moyamoya diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
developmental disabilityOpen Targets
0.37Weak
Hearing impairmentOpen Targets
0.35Weak
Rare genetic deafnessOpen Targets
0.34Weak
MacrothrombocytopeniaOpen Targets
0.34Weak
Neonatal seizureOpen Targets
0.32Weak
microcephalyOpen Targets
0.29Weak
Pendred syndromeOpen Targets
0.27Weak
auditory neuropathyOpen Targets
0.26Weak
epilepsyOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
Failure to thriveOpen Targets
0.26Weak
Deafness, autosomal dominant 1, with or without thrombocytopeniaUniProt
Seizures, cortical blindness, and microcephaly syndromeUniProt
Pathogenic Variants60
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)Pathogenic
Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 1|not provided|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1213
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|not provided|Deafness|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1049
NM_005219.5(DIAPH1):c.145-1G>ALikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜…β˜†β˜†2025
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 704
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1|not provided|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 351
NM_005219.5(DIAPH1):c.991C>T (p.Arg331Ter)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 331
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)Pathogenic
Failure to thrive;Global developmental delay;Microcephaly;Epilepsy|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Autosomal dominant nonsyndromic hearing loss 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 778
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 847
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)Pathogenic
not provided|Hearing impairment|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 1090
NM_005219.5(DIAPH1):c.1396+1G>ALikely pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜†β˜†β˜†2026
NM_005219.5(DIAPH1):c.3149-2A>GLikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β˜…β˜†β˜†β˜†2025
NM_005219.5(DIAPH1):c.1016del (p.Met339fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 339
NM_005219.5(DIAPH1):c.118-1G>TLikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β˜…β˜†β˜†β˜†2025
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β˜…β˜†β˜†β˜†2025β†’ Residue 784
NM_005219.5(DIAPH1):c.3149-1G>ALikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β˜…β˜†β˜†β˜†2025
NM_005219.5(DIAPH1):c.3516del (p.Glu1173fs)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β˜…β˜†β˜†β˜†2025β†’ Residue 1173
NM_005219.5(DIAPH1):c.2108del (p.Pro703fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 703
NM_005219.5(DIAPH1):c.1609del (p.Leu537fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 537
NM_005219.5(DIAPH1):c.811C>T (p.Gln271Ter)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 271
NM_005219.5(DIAPH1):c.533+1G>TLikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
ACTBProtein interaction100%SAV1Protein interaction99%AGERProtein interaction97%ACTG1Protein interaction97%RHOCProtein interaction97%PFN1Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Lung
82%
Bone Marrow
54%
Heart
41%
Brain
39%
Ovary
18%
Gene Interaction Network
Click a node to explore
DIAPH1ACTBSAV1AGERACTG1RHOCPFN1
PROTEIN STRUCTURE
Preparing viewer…
PDB8FG1 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.37Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.28 [0.21–0.37]
RankingsWhere DIAPH1 stands among ~20K protein-coding genes
  • #2,066of 20,598
    Most Researched203 Β· top quartile
  • #1,162of 5,498
    Most Pathogenic Variants60 Β· top quartile
  • #1,680of 17,882
    Most Constrained (LOEUF)0.37 Β· top 10%
Genes detectedDIAPH1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress.
PMID: 37903764
Nat Commun Β· 2023
1.00
2
The RAGE/DIAPH1 axis: mediator of obesity and proposed biomarker of human cardiometabolic disease.
PMID: 36448548
Cardiovasc Res Β· 2024
0.90
3
Fibrogenic signals persist in DAA-treated HCV patients after sustained virological response.
PMID: 34271004
J Hepatol Β· 2021
0.80
4
Mechanisms of actin filament severing and elongation by formins.
PMID: 38843827
Nature Β· 2024
0.76
5
AGER-dependent macropinocytosis drives resistance to KRAS-G12D-targeted therapy in advanced pancreatic cancer.
PMID: 39879317
Sci Transl Med Β· 2025
0.70