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GeneE
2 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.
LRRIQ1
leucine rich repeats and IQ motif containing 1
Chromosome 12 Β· 12q21.31
NCBI Gene: 84125Ensembl: ENSG00000133640.20HGNC: HGNC:25708UniProt: A0A140VJN5
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule cytoskeletonregulation of signal transductionhair colorgestational diabetesCerebral degenerationTrichiasis
✦AI Summary

Based on limited published evidence, LRRIQ1 is a leucine-rich repeat and IQ motif-containing protein associated with microtubule cytoskeleton organization. A genome-wide association study identified a locus at 12q21.31 containing LRRIQ1 associated with plasma inhibin B levels 1. The gene resides in a genomic region containing a distal enhancer (Alx1-DE1) that regulates ALX1 expression during craniofacial development, though this enhancer's presence within LRRIQ1 introns does not indicate direct LRRIQ1 function in this process 2.

Sources cited
1
GWAS identified LRRIQ1 at locus 12q21.31 associated with plasma inhibin B levels in male reproductive function
PMID: 32341457
2
Alx1-DE1 enhancer located within LRRIQ1 introns regulates ALX1 expression in craniofacial development
PMID: 41850652
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
hair colorOpen Targets
0.30Weak
gestational diabetesOpen Targets
0.26Weak
Cerebral degenerationOpen Targets
0.24Weak
entropionOpen Targets
0.19Weak
TrichiasisOpen Targets
0.19Weak
Non-Neoplastic Bile Duct DisorderOpen Targets
0.11Weak
azoospermiaOpen Targets
0.08Suggestive
spermatogenic failure 3Open Targets
0.06Suggestive
spermatogenic failure 55Open Targets
0.06Suggestive
spermatogenic failure 83Open Targets
0.06Suggestive
spermatogenic failure 7Open Targets
0.06Suggestive
spermatogenic failure 16Open Targets
0.05Suggestive
spermatogenic failure 21Open Targets
0.05Suggestive
spermatogenic failure 29Open Targets
0.05Suggestive
spermatogenic failure 58Open Targets
0.05Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.05Suggestive
spermatogenic failure 79Open Targets
0.05Suggestive
chronic hepatitisOpen Targets
0.05Suggestive
spermatogenic failure 10Open Targets
0.05Suggestive
spermatogenic failure 11Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
HPCAL1Shared pathway100%VSNL1Shared pathway100%PPP6R2Shared pathway100%PPP6R1Shared pathway100%RGS22Shared pathway100%PPP6R3Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
58%
Ovary
37%
Heart
32%
Liver
18%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
LRRIQ1HPCAL1VSNL1PPP6R2PPP6R1RGS22PPP6R3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96JM4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.98 [0.84–1.14]
RankingsWhere LRRIQ1 stands among ~20K protein-coding genes
  • #14,191of 20,598
    Most Researched20
  • #11,837of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedLRRIQ1
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.
PMID: 41850652
Dev Biol Β· 2026
1.00
2
Genome-wide association study of semen volume, sperm concentration, testis size, and plasma inhibin B levels.
PMID: 32341457
J Hum Genet Β· 2020
0.50