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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MYO1A
myosin IA
Chromosome 12 Β· 12q13.3
NCBI Gene: 4640Ensembl: ENSG00000166866.14HGNC: HGNC:7595UniProt: B2R643
45PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
filamentous actinmicrovillusbrush bordersensory perception of sounddiarrhea 15, congenitalcongenital diarrheaautosomal dominant nonsyndromic hearing lossinsomnia
✦AI Summary

MYO1A encodes myosin IA, an actin-based motor protein primarily localized to intestinal brush border microvilli 1. The protein mediates actin filament-based movement and organelle transport through a C-terminal tail homology 1 (TH1) domain that binds phosphatidylserine and phosphoinositol 4,5-bisphosphate on microvillar membranes 1. MYO1A functions in multiple tissues beyond the intestine, including osteoblasts where it regulates cell differentiation independent of calcium transport 2, and in trophoblasts where it promotes proliferation and migration through SMURF2/Hedgehog signaling 3. MYO1A has well-established tumor suppressor activity in colorectal cancer, with frameshift mutations occurring in 32% of microsatellite-instable tumors and promoter methylation inactivating the gene in a significant proportion of cases 4. Low MYO1A expression independently predicts shorter disease-free and overall survival in colorectal cancer patients 4. MYO1A inactivation also occurs at high frequency in gastric tumors (46.8%) with mechanistic consequences including reduced protein stability and loss of membrane localization 5. Recently, MYO1A variants were functionally characterized as novel genetic causes of congenital diarrhea and enteropathy (CODE) in infants 6. However, MYO1A appears dispensable for hearing; mutations previously attributed to DFNA48 deafness co-segregate with other deafness genes and occur at population frequencies incompatible with dominant inheritance 7.

Sources cited
1
MYO1A identified as novel gene associated with congenital diarrhea and enteropathy disorders
PMID: 40174224
2
MYO1A-TH1 domain mediates microvillar membrane targeting through phosphatidylserine and phosphoinositol 4,5-bisphosphate binding
PMID: 22367206
3
MYO1A regulates osteoblast differentiation independent of intestinal calcium transport
PMID: 31620669
4
MYO1A downregulation inhibits trophoblast proliferation and migration via SMURF2/Hedgehog signaling, associated with fetal growth restriction
PMID: 40147359
5
MYO1A has tumor suppressor activity in colorectal cancer with independent prognostic significance
PMID: 22307608
6
MYO1A frameshift mutations occur in 46.8% of gastric tumors with microsatellite instability and promoter hypermethylation inactivates expression
PMID: 23002058
7
MYO1A mutations do not cause DFNA48 deafness; mutations co-segregate with other deafness genes and appear dispensable for hearing
PMID: 24616153
Disease Associationsβ“˜21
diarrhea 15, congenitalOpen Targets
0.42Moderate
congenital diarrheaOpen Targets
0.30Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.18Weak
insomniaOpen Targets
0.14Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
Barrett's esophagusOpen Targets
0.08Suggestive
Meckel's diverticulumOpen Targets
0.07Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cellsOpen Targets
0.06Suggestive
Genetic intractable diarrhea of infancyOpen Targets
0.06Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.06Suggestive
Diarrhea, InfantileOpen Targets
0.05Suggestive
atresia of small intestineOpen Targets
0.05Suggestive
esophageal adenocarcinomaOpen Targets
0.05Suggestive
corneal endothelial dystrophyOpen Targets
0.05Suggestive
duodenal atresiaOpen Targets
0.05Suggestive
annular pancreasOpen Targets
0.05Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.05Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.05Suggestive
Diarrhea 15, congenitalUniProt
Pathogenic Variants1
NM_005379.4(MYO1A):c.718G>A (p.Asp240Asn)Likely pathogenic
Diarrhea 15, congenital|Congenital diarrhea
β˜…β˜†β˜†β˜†2024β†’ Residue 240
View on ClinVar β†—
Related Genes
CALML4Protein interaction100%CALML5Protein interaction100%CALML3Protein interaction100%CALML6Protein interaction100%ACTR1AProtein interaction99%ACTBProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
28%
Liver
28%
Brain
17%
Heart
15%
Ovary
13%
Gene Interaction Network
Click a node to explore
MYO1ACALML4CALML5CALML3CALML6ACTR1AACTB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UBC5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.75–1.00]
RankingsWhere MYO1A stands among ~20K protein-coding genes
  • #9,486of 20,598
    Most Researched45
  • #5,133of 5,498
    Most Pathogenic Variants1
  • #9,657of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedMYO1A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
PMID: 40174224
N Engl J Med Β· 2025
1.00
2
Brush border myosin Ia inactivation in gastric but not endometrial tumors.
PMID: 23002058
Int J Cancer Β· 2013
0.90
3
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
PMID: 24616153
Hum Mutat Β· 2014
0.80
4
Down-regulation of MYO1A inhibits trophoblast cell proliferation and migration through SMURF2/Hedgehog signaling pathway and leads to fetal growth restriction.
PMID: 40147359
Placenta Β· 2025
0.70
5
Myosin 1a Regulates Osteoblast Differentiation Independent of Intestinal Calcium Transport.
PMID: 31620669
J Endocr Soc Β· 2019
0.60