FERRY3 — FERRY endosomal RAB5 effector complex subunit 3

1 sources retrieved · Most recent: April 2026 · Index updated 15 days ago

20PubMed Papers

21Diseases

0Drugs

22Pathogenic Variants

CLINICAL

OMIM Disease Gene

DATA QUALITY

✓ Experimental GO Evidence✓ Swiss-Prot Reviewed

protein bindingearly endosomeprotein-containing complexcytoplasmautosomal recessive non-syndromic intellectual disabilityintellectual disability, autosomal recessive 66aortic stenosisdyshidrosis

✦AI Summary

Based on limited published evidence, FERRY3 is a component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary), a RAB5A effector that interacts directly with mRNAs and mediates their endosomal transport and localization 1. The complex recruits mRNAs and ribosomes to early endosomes, functioning in local mRNA distribution, particularly in cells with extended processes 1. FERRY3 also plays a role in mast cell degranulation 1. Mutations in FERRY3 cause autosomal recessive intellectual developmental disorder 66 2, suggesting critical neurobiological functions.

Sources cited

FERRY3 is a FERRY complex component that interacts with mRNAs and RAB5A to mediate mRNA endosomal transport, recruitment to early endosomes, and mast cell degranulation

PMID: 37267905

FERRY3 mutations cause autosomal recessive intellectual developmental disorder and represent a novel neurogenetic disease class

PMID: 40062705

⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.

autosomal recessive non-syndromic intellectual disabilityOpen Targets

0.63Moderate

intellectual disability, autosomal recessive 66Open Targets

0.54Moderate

aortic stenosisOpen Targets

0.33Weak

dyshidrosisOpen Targets

0.27Weak

Intellectual disabilityOpen Targets

0.26Weak

attention deficit hyperactivity disorderOpen Targets

0.26Weak

HypotoniaOpen Targets

0.26Weak

genetic disorderOpen Targets

0.16Weak

edemaOpen Targets

0.07Suggestive

brain compressionOpen Targets

0.06Suggestive

aortic valve diseaseOpen Targets

0.05Suggestive

dehydrated hereditary stomatocytosisOpen Targets

0.04Suggestive

sitosterolemia 1Open Targets

0.04Suggestive

Hemoglobin E - beta-thalassemiaOpen Targets

0.04Suggestive

hemoglobin E-beta-thalassemia syndromeOpen Targets

0.04Suggestive

sitosterolemiaOpen Targets

0.03Suggestive

Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets

0.03Suggestive

hemoglobin D diseaseOpen Targets

0.03Suggestive

combined oxidative phosphorylation deficiency 41Open Targets

0.03Suggestive

amegakaryocytic thrombocytopenia, congenital, 2Open Targets

0.03Suggestive

Intellectual developmental disorder, autosomal recessive 66UniProt

NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)Pathogenic

Intellectual disability, autosomal recessive 66|not provided

★★☆☆2024→ Residue 454

NM_020374.4(FERRY3):c.40_41del (p.Glu14fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2025→ Residue 14

NM_020374.4(FERRY3):c.1003C>T (p.Arg335Ter)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2025→ Residue 335

NM_020374.4(FERRY3):c.199C>T (p.Gln67Ter)Likely pathogenic

not provided

★☆☆☆2024→ Residue 67

NM_020374.4(FERRY3):c.38_41del (p.Arg13fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2024→ Residue 13

NM_020374.4(FERRY3):c.916C>T (p.Arg306Ter)Likely pathogenic

not provided

★☆☆☆2024→ Residue 306

NM_020374.4(FERRY3):c.1043_1044del (p.Thr348fs)Pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2023→ Residue 348

NM_020374.4(FERRY3):c.729-1G>ALikely pathogenic

not provided

★☆☆☆2023

NM_020374.4(FERRY3):c.670C>T (p.Gln224Ter)Likely pathogenic

C12orf4-related disorder

★☆☆☆2023→ Residue 224

NM_020374.4(FERRY3):c.527_528del (p.Lys176fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2023→ Residue 176

NM_020374.4(FERRY3):c.500_501GA[2] (p.Arg169fs)Likely pathogenic

not provided

★☆☆☆2022→ Residue 169

NM_020374.4(FERRY3):c.815_818del (p.Glu272fs)Pathogenic

not provided

★☆☆☆2022→ Residue 272

NM_020374.4(FERRY3):c.484G>T (p.Glu162Ter)Pathogenic

not provided

★☆☆☆2022→ Residue 162

NM_020374.4(FERRY3):c.1168_1169delinsC (p.Gly390fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2022→ Residue 390

NM_020374.4(FERRY3):c.1132C>T (p.Gln378Ter)Pathogenic

not provided

★☆☆☆2020→ Residue 378

NM_020374.4(FERRY3):c.187G>T (p.Glu63Ter)Pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020→ Residue 63

NM_020374.4(C12orf4):c.799_1034-429delinsTTATGALikely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020

NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020→ Residue 360

NM_020374.4(FERRY3):c.983T>C (p.Leu328Pro)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020→ Residue 328

NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2019→ Residue 401

GATD1Shared pathway50%PPP1R21Shared pathway50%CRYZL1Shared pathway50%TBCKShared pathway17%ADGRE2Shared pathway14%UNC13DShared pathway13%

Bone Marrow

100%

Heart

95%

Brain

66%

Lung

54%

Ovary

52%

Liver

47%

1 sources retrieved · Most recent: April 2026 · Index updated 15 days ago

20PubMed Papers

21Diseases

0Drugs

22Pathogenic Variants

CLINICAL

OMIM Disease Gene

DATA QUALITY

✓ Experimental GO Evidence✓ Swiss-Prot Reviewed

protein bindingearly endosomeprotein-containing complexcytoplasmautosomal recessive non-syndromic intellectual disabilityintellectual disability, autosomal recessive 66aortic stenosisdyshidrosis

✦AI Summary

Sources cited

FERRY3 is a FERRY complex component that interacts with mRNAs and RAB5A to mediate mRNA endosomal transport, recruitment to early endosomes, and mast cell degranulation

PMID: 37267905

FERRY3 mutations cause autosomal recessive intellectual developmental disorder and represent a novel neurogenetic disease class

PMID: 40062705

⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.

autosomal recessive non-syndromic intellectual disabilityOpen Targets

0.63Moderate

intellectual disability, autosomal recessive 66Open Targets

0.54Moderate

aortic stenosisOpen Targets

0.33Weak

dyshidrosisOpen Targets

0.27Weak

Intellectual disabilityOpen Targets

0.26Weak

attention deficit hyperactivity disorderOpen Targets

0.26Weak

HypotoniaOpen Targets

0.26Weak

genetic disorderOpen Targets

0.16Weak

edemaOpen Targets

0.07Suggestive

brain compressionOpen Targets

0.06Suggestive

aortic valve diseaseOpen Targets

0.05Suggestive

dehydrated hereditary stomatocytosisOpen Targets

0.04Suggestive

sitosterolemia 1Open Targets

0.04Suggestive

Hemoglobin E - beta-thalassemiaOpen Targets

0.04Suggestive

hemoglobin E-beta-thalassemia syndromeOpen Targets

0.04Suggestive

sitosterolemiaOpen Targets

0.03Suggestive

Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets

0.03Suggestive

hemoglobin D diseaseOpen Targets

0.03Suggestive

combined oxidative phosphorylation deficiency 41Open Targets

0.03Suggestive

amegakaryocytic thrombocytopenia, congenital, 2Open Targets

0.03Suggestive

Intellectual developmental disorder, autosomal recessive 66UniProt

NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)Pathogenic

Intellectual disability, autosomal recessive 66|not provided

★★☆☆2024→ Residue 454

NM_020374.4(FERRY3):c.40_41del (p.Glu14fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2025→ Residue 14

NM_020374.4(FERRY3):c.1003C>T (p.Arg335Ter)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2025→ Residue 335

NM_020374.4(FERRY3):c.199C>T (p.Gln67Ter)Likely pathogenic

not provided

★☆☆☆2024→ Residue 67

NM_020374.4(FERRY3):c.38_41del (p.Arg13fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2024→ Residue 13

NM_020374.4(FERRY3):c.916C>T (p.Arg306Ter)Likely pathogenic

not provided

★☆☆☆2024→ Residue 306

NM_020374.4(FERRY3):c.1043_1044del (p.Thr348fs)Pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2023→ Residue 348

NM_020374.4(FERRY3):c.729-1G>ALikely pathogenic

not provided

★☆☆☆2023

NM_020374.4(FERRY3):c.670C>T (p.Gln224Ter)Likely pathogenic

C12orf4-related disorder

★☆☆☆2023→ Residue 224

NM_020374.4(FERRY3):c.527_528del (p.Lys176fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2023→ Residue 176

NM_020374.4(FERRY3):c.500_501GA[2] (p.Arg169fs)Likely pathogenic

not provided

★☆☆☆2022→ Residue 169

NM_020374.4(FERRY3):c.815_818del (p.Glu272fs)Pathogenic

not provided

★☆☆☆2022→ Residue 272

NM_020374.4(FERRY3):c.484G>T (p.Glu162Ter)Pathogenic

not provided

★☆☆☆2022→ Residue 162

NM_020374.4(FERRY3):c.1168_1169delinsC (p.Gly390fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2022→ Residue 390

NM_020374.4(FERRY3):c.1132C>T (p.Gln378Ter)Pathogenic

not provided

★☆☆☆2020→ Residue 378

NM_020374.4(FERRY3):c.187G>T (p.Glu63Ter)Pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020→ Residue 63

NM_020374.4(C12orf4):c.799_1034-429delinsTTATGALikely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020

NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020→ Residue 360

NM_020374.4(FERRY3):c.983T>C (p.Leu328Pro)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2020→ Residue 328

NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)Likely pathogenic

Intellectual disability, autosomal recessive 66

★☆☆☆2019→ Residue 401

GATD1Shared pathway50%PPP1R21Shared pathway50%CRYZL1Shared pathway50%TBCKShared pathway17%ADGRE2Shared pathway14%UNC13DShared pathway13%

Bone Marrow

100%

Heart

95%

Brain

66%

Lung

54%

Ovary

52%

Liver

47%