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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LARP7
La ribonucleoprotein 7, transcriptional regulator
Chromosome 4 Β· 4q25
NCBI Gene: 51574Ensembl: ENSG00000174720.18HGNC: HGNC:24912UniProt: A0A8I5KUI4
160PubMed Papers
21Diseases
0Drugs
82Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasm7SK snRNPribonucleoprotein complexU6 snRNA bindingmicrocephalic primordial dwarfism, Alazami typeIntellectual disabilityisolated growth hormone deficiency type IAEpileptic encephalopathy
✦AI Summary

LARP7 is an RNA-binding protein that regulates transcription and RNA processing through multiple mechanisms. As a core component of the 7SK ribonucleoprotein (RNP) complex, LARP7 negatively regulates RNA polymerase II transcription elongation by sequestering the positive transcription elongation factor b (P-TEFb) 1. LARP7 binds the 3' U-rich region of 7SK snRNA and releases P-TEFb upon stimulation, allowing transcriptional activation 2. Additionally, LARP7 promotes mRNA splicing fidelity by facilitating U6 snRNA loading into box C/D RNP complexes to enable U6 2'-O-methylation 3. LARP7 also participates in early telomerase RNA biogenesis, where LARP7/MePCE mediate processing of telomerase RNA precursors 4. Beyond canonical RNA functions, LARP7 protects cardiac health by enhancing mitochondrial biogenesis and energy metabolism through SIRT1-mediated transcription of oxidative phosphorylation genes 5. In vascular smooth muscle cells, LARP7 maintains contractile phenotype by coupling with P300 histone acetyltransferase to enhance H3K27 acetylation at contractile gene promoters 6. Following ischemic stroke, LARP7 suppresses neuronal pyroptosis by promoting SIRT1-mediated NLRP3 deacetylation and inflammasome inhibition 7. Biallelic LARP7 mutations cause Alazami syndrome, characterized by developmental delay and cognitive dysfunction 8. LARP7 dysfunction has also been implicated in pancreatic cancer pathogenesis through LARP7-CDK1 pathway activation 9.

Sources cited
1
As a core component of the 7SK ribonucleoprotein (RNP) complex, LARP7 negatively regulates RNA polymerase II transcription elongation by sequestering the positive transcription elongation factor b (P-TEFb) .
PMID: 18249148
2
LARP7 binds the 3' U-rich region of 7SK snRNA and releases P-TEFb upon stimulation, allowing transcriptional activation .
PMID: 18281698
3
Additionally, LARP7 promotes mRNA splicing fidelity by facilitating U6 snRNA loading into box C/D RNP complexes to enable U6 2'-O-methylation .
PMID: 32017898
4
LARP7 also participates in early telomerase RNA biogenesis, where LARP7/MePCE mediate processing of telomerase RNA precursors .
PMID: 39009594
5
Beyond canonical RNA functions, LARP7 protects cardiac health by enhancing mitochondrial biogenesis and energy metabolism through SIRT1-mediated transcription of oxidative phosphorylation genes .
PMID: 33663221
6
In vascular smooth muscle cells, LARP7 maintains contractile phenotype by coupling with P300 histone acetyltransferase to enhance H3K27 acetylation at contractile gene promoters .
PMID: 40522739
7
Following ischemic stroke, LARP7 suppresses neuronal pyroptosis by promoting SIRT1-mediated NLRP3 deacetylation and inflammasome inhibition .
PMID: 41351020
8
Biallelic LARP7 mutations cause Alazami syndrome, characterized by developmental delay and cognitive dysfunction .
PMID: 40548259
9
LARP7 dysfunction has also been implicated in pancreatic cancer pathogenesis through LARP7-CDK1 pathway activation .
PMID: 36434634
Disease Associationsβ“˜21
microcephalic primordial dwarfism, Alazami typeOpen Targets
0.79Strong
Intellectual disabilityOpen Targets
0.48Moderate
isolated growth hormone deficiency type IAOpen Targets
0.37Weak
Epileptic encephalopathyOpen Targets
0.34Weak
Abnormal brain morphologyOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
atrial fibrillationOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
gastrointestinal stromal tumorOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
Ischemic strokeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
atherosclerosisOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.03Suggestive
chronic kidney diseaseOpen Targets
0.03Suggestive
Γ…land Islands eye diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
VitiligoOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
Alazami syndromeUniProt
Pathogenic Variants82
NM_016648.4(LARP7):c.834dup (p.Arg279fs)Pathogenic
not provided|Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_016648.4(LARP7):c.1669-1_1671delPathogenic
Intellectual disability|Epileptic encephalopathy|not provided|Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2025
NM_016648.4(LARP7):c.1295-2A>GLikely pathogenic
Microcephalic primordial dwarfism, Alazami type|not provided
β˜…β˜…β˜†β˜†2025
NM_016648.4(LARP7):c.1213dup (p.Thr405fs)Pathogenic
not provided|Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2025β†’ Residue 405
NM_016648.4(LARP7):c.377_378del (p.Thr126fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 126
NM_016648.4(LARP7):c.673_676del (p.Lys225fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 225
NM_016648.4(LARP7):c.646+3_646+6delLikely pathogenic
not provided|Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2024
NM_016648.4(LARP7):c.782_783del (p.Gly260_Ser261insTer)Pathogenic
not provided|Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2024β†’ Residue 260
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)Pathogenic
Microcephalic primordial dwarfism, Alazami type|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 364
NM_016648.4(LARP7):c.731del (p.Ser244fs)Pathogenic
Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2024β†’ Residue 244
NM_016648.4(LARP7):c.225_226del (p.Ser76fs)Pathogenic
Microcephalic primordial dwarfism, Alazami type|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 76
NM_016648.4(LARP7):c.64_65del (p.Glu22fs)Pathogenic
Microcephalic primordial dwarfism, Alazami type|not provided|LARP7-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 22
NM_016648.4(LARP7):c.1077_1078del (p.His359fs)Pathogenic
not provided|LARP7-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 359
NM_016648.4(LARP7):c.832A>T (p.Lys278Ter)Likely pathogenic
Abnormal brain morphology|Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2023β†’ Residue 278
NM_016648.3(LARP7):c.651_655delPathogenic
Microcephalic primordial dwarfism, Alazami type|not provided|Intellectual disability
β˜…β˜…β˜†β˜†2023
NM_016648.4(LARP7):c.119dup (p.Gln41fs)Pathogenic
not provided|Microcephalic primordial dwarfism, Alazami type
β˜…β˜…β˜†β˜†2023β†’ Residue 41
NM_016648.4(LARP7):c.728_729dup (p.Ser244fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 244
NM_016648.4(LARP7):c.1089_1090del (p.His363fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 363
NM_016648.4(LARP7):c.475_478dup (p.Lys160delinsIleTer)Likely pathogenic
Microcephalic primordial dwarfism, Alazami type
β˜…β˜†β˜†β˜†2026β†’ Residue 160
NM_016648.4(LARP7):c.723_724del (p.Met241fs)Pathogenic
Microcephalic primordial dwarfism, Alazami type
β˜…β˜†β˜†β˜†2026β†’ Residue 241
View on ClinVar β†—
Related Genes
PPM1GProtein interaction100%NOP56Protein interaction100%CDC5LProtein interaction100%SF3B1Protein interaction100%EFTUD2Protein interaction100%NCLProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
79%
Ovary
45%
Liver
42%
Lung
37%
Brain
31%
Gene Interaction Network
Click a node to explore
LARP7PPM1GNOP56CDC5LSF3B1EFTUD2NCL
PROTEIN STRUCTURE
Preparing viewer…
PDB6D12 Β· 2.21 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.65–1.13]
RankingsWhere LARP7 stands among ~20K protein-coding genes
  • #2,807of 20,598
    Most Researched160 Β· top quartile
  • #902of 5,498
    Most Pathogenic Variants82 Β· top quartile
  • #11,669of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedLARP7
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
LARP7 Protects Against Heart Failure by Enhancing Mitochondrial Biogenesis.
PMID: 33663221
Circulation Β· 2021
1.00
2
LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis.
PMID: 39009594
Nat Commun Β· 2024
0.90
3
Proteogenomic insights into the biology and treatment of pancreatic ductal adenocarcinoma.
PMID: 36434634
J Hematol Oncol Β· 2022
0.80
4
Stabilize and connect: the role of LARP7 in nuclear non-coding RNA metabolism.
PMID: 32401147
RNA Biol Β· 2021
0.70
5
Glucose-regulating hydrogel for immune modulation and angiogenesis through metabolic reprogramming and LARP7-SIRT1 pathway in infected diabetic wounds.
PMID: 39951832
Biomaterials Β· 2025
0.68