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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CYRIA
CYFIP related Rac1 interactor A
Chromosome 2 · 2p24.2
NCBI Gene: 81553Ensembl: ENSG00000197872.12HGNC: HGNC:25373UniProt: Q9H0Q0
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of actin filament polymerizationsmall GTPase bindingmembranecleft lipbasal cell carcinomaorofacial clefttype 2 diabetes mellitus
✦AI Summary

CYRIA (CYFIP-related Rac1 interactor A) is a negative regulator of RAC1 signaling that controls actin-based cell protrusions and migration. CYRIA binds activated RAC1 through a conserved DUF1394 domain and acts as a 'local inhibitor' by suppressing Scar/WAVE complex-mediated actin polymerization 1. This inhibitory mechanism restricts protrusion size and duration; CYRIA-depleted cells exhibit broader lamellipodia with prolonged pseudopods, while CYRIA overexpression produces short-lived, unproductive protrusions 1. Beyond protrusion control, CYRIA-A regulates macropinosome formation and integrin trafficking; CYRIA depletion enhances migration, invasion, and anchorage-independent growth 2. Structurally, CYRIA proteins form autoinhibited homo- and heterodimers that provide additional regulatory layers for RAC1 signaling 3. Clinically, CYRIA variants are associated with non-syndromic orofacial clefts (NSOFCs), a common craniofacial birth defect. Multiple GWAS and replication studies have identified CYRIA SNPs (rs7552, rs3821949, rs3917201) as contributing risk factors for NSOFCs across different populations 456. Additionally, a CYRIA variant (rs12613255) shows significant association with developmental stuttering 7. These findings establish CYRIA as functionally important for craniofacial and neural development.

Sources cited
1
CYRIA binds activated Rac1 via DUF1394 domain and acts as local inhibitor of Scar/WAVE-induced actin polymerization to regulate protrusion size, duration, and cell migration
PMID: 30250061
2
CYRIA-A regulates macropinosome formation and integrin trafficking; CYRIA depletion enhances migration and invasion
PMID: 34165494
3
CYRIA proteins undergo conformational changes upon Rac1 binding and can form autoinhibited homo- and heterodimers
PMID: 33217330
4
CYRIA variants rs7552, rs3821949, and rs3917201 show positive association with non-syndromic orofacial clefts in Kuwaiti population
PMID: 39442823
5
CYRIA SNP rs7552 is associated with non-syndromic orofacial clefts in Chinese population
PMID: 29949196
6
FAM49A (CYRIA) rs7552 interacts with GRHL3 and other genes in non-syndromic orofacial cleft pathogenesis in Brazilian population
PMID: 31564061
7
CYRIA variant rs12613255 is associated with developmental stuttering risk
PMID: 34861174
8
CYRIA is located in genomic region associated with orofacial cleft risk but is not required during craniofacial development in chicken embryos
PMID: 40250422
Disease Associationsⓘ20
cleft lipOpen Targets
0.45Moderate
basal cell carcinomaOpen Targets
0.43Moderate
orofacial cleftOpen Targets
0.42Moderate
type 2 diabetes mellitusOpen Targets
0.40Moderate
agingOpen Targets
0.39Weak
cleft palateOpen Targets
0.39Weak
skin neoplasmOpen Targets
0.38Weak
urinary bladder cancerOpen Targets
0.37Weak
adolescent idiopathic scoliosisOpen Targets
0.34Weak
skin cancerOpen Targets
0.32Weak
cervical carcinomaOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.31Weak
auditory system diseaseOpen Targets
0.31Weak
postinflammatory pulmonary fibrosisOpen Targets
0.30Weak
osteoarthritisOpen Targets
0.29Weak
PainOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.28Weak
exostosisOpen Targets
0.28Weak
Hammer Toe SyndromeOpen Targets
0.27Weak
diabetic neuropathyOpen Targets
0.27Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMIM46Shared pathway50%C8orf90Shared pathway50%SMIM44Shared pathway50%C21orf140Shared pathway50%CIMIP7Shared pathway50%ZNF862Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
92%
Lung
39%
Ovary
26%
Heart
17%
Liver
8%
Gene Interaction Network
Click a node to explore
CYRIASMIM46C8orf90SMIM44C21orf140CIMIP7ZNF862
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H0Q0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.59Intermediate
Observed/Expected LoF0.38 [0.24–0.61]
RankingsWhere CYRIA stands among ~20K protein-coding genes
  • #12,540of 20,598
    Most Researched27
  • #4,292of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedCYRIA
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.
PMID: 40250422
Am J Hum Genet · 2025
1.00
2
Association of selected gene variants with nonsyndromic orofacial clefts in Kuwait.
PMID: 39442823
Gene · 2025
0.88
3
Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering.
PMID: 34861174
Am J Hum Genet · 2021
0.75
4
Fam49/CYRI interacts with Rac1 and locally suppresses protrusions.
PMID: 30250061
Nat Cell Biol · 2018
0.63
5
CYRI-A limits invasive migration through macropinosome formation and integrin uptake regulation.
PMID: 34165494
J Cell Biol · 2021
0.50