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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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C1QTNF5
C1q and TNF related 5
Chromosome 11 Β· 11q23.3
NCBI Gene: 114902Ensembl: ENSG00000223953.6HGNC: HGNC:14344UniProt: Q9BXJ0
59PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingGO:0005615plasma membranelate-onset retinal degenerationRetinal dystrophyretinal degenerationretinitis pigmentosa
✦AI Summary

C1QTNF5 (C1q and TNF related 5) is a membrane-associated protein that functions in retinal and systemic biology. As a plasma membrane protein capable of protein binding 1, C1QTNF5 serves multiple physiological roles. In the eye, C1QTNF5 is specifically expressed in retinal pigment epithelium (RPE) and is critical for maintaining normal retinal homeostasis 2. The protein functions as a novel attachment factor for influenza A virus, facilitating viral entry through interaction with hemagglutinin via its N-terminal region 3. Pathogenic mutations in C1QTNF5 cause late-onset retinal degeneration (L-ORD), a rare autosomal dominant macular dystrophy characterized by yellow-white punctate lesions and sub-RPE deposits that accumulate with age 4. Specific mutations like S163R result in aberrant basolateral distribution and progressive deposit formation, while other mutants (P188T, G216C) affect the RPE/photoreceptor interface through distinct mechanisms 2. C1QTNF5 mutations also associate with autosomal dominant gyrate atrophy-like choroidal dystrophy 5. Beyond ocular disease, C1QTNF5 emerges as a potential biomarker in proliferative diabetic retinopathy and Alzheimer's disease, suggesting broader roles in metabolic and inflammatory pathways 67.

Sources cited
1
C1QTNF5 mutations cause late-onset retinal degeneration with yellow-white punctate lesions and sub-RPE deposits
PMID: 39930246
2
C1QTNF5 is expressed in RPE; S163R mutation causes reversed polarization and progressive deposit formation; distinct C1QTNF5 mutants show different pathobiological mechanisms
PMID: 36328299
3
C1QTNF5 functions as an attachment factor for influenza A virus through N-terminal interaction with hemagglutinin
PMID: 38246238
4
C1QTNF5 Q180E mutation causes autosomal dominant gyrate atrophy-like choroidal dystrophy
PMID: 40366714
5
C1QTNF5 is a hub gene biomarker in proliferative diabetic retinopathy affecting metabolism-related and inflammatory pathways
PMID: 36451477
6
C1QTNF5 is identified as a potential CSF biomarker in Alzheimer's disease
PMID: 32711556
7
C1QTNF5 mutations identified in macular and cone/cone-rod dystrophy patients
PMID: 29555955
Disease Associationsβ“˜21
late-onset retinal degenerationOpen Targets
0.70Strong
Retinal dystrophyOpen Targets
0.51Moderate
retinal degenerationOpen Targets
0.42Moderate
retinitis pigmentosaOpen Targets
0.41Moderate
eye diseaseOpen Targets
0.37Weak
inherited retinal dystrophyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.26Weak
isolated microphthalmia 5Open Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
goutOpen Targets
0.17Weak
Isolated anophthalmia - microphthalmiaOpen Targets
0.15Weak
nanophthalmos 2Open Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.11Weak
X-linked retinal dysplasiaOpen Targets
0.10Suggestive
age-related macular degenerationOpen Targets
0.10Suggestive
polycystic ovary syndromeOpen Targets
0.09Suggestive
Progressive cone dystrophyOpen Targets
0.08Suggestive
Stargardt diseaseOpen Targets
0.08Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.08Suggestive
Late-onset retinal degenerationUniProt
Pathogenic Variants6
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 163
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)Pathogenic
Late-onset retinal degeneration|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 163
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)Pathogenic
Late-onset retinal degeneration|Retinal dystrophy
β˜…β˜…β˜†β˜†2022β†’ Residue 188
NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala)Likely pathogenic
Late-onset retinal degeneration
β˜…β˜†β˜†β˜†2018β†’ Residue 188
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp)Likely pathogenic
Retinal dystrophy
β˜†β˜†β˜†β˜†2015β†’ Residue 190
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser)Likely pathogenic
Retinal dystrophy
β˜†β˜†β˜†β˜†2015β†’ Residue 186
View on ClinVar β†—
Related Genes
MFRPProtein interaction90%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
C1QTNF5MFRP
PROTEIN STRUCTURE
Preparing viewer…
PDB4F3J Β· 1.34 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.04LoF Tolerant
pLIβ“˜
0.14Tolerant
Observed/Expected LoF0.49 [0.26–1.04]
RankingsWhere C1QTNF5 stands among ~20K protein-coding genes
  • #7,739of 20,598
    Most Researched59
  • #3,382of 5,498
    Most Pathogenic Variants6
  • #10,315of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedC1QTNF5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
PMID: 29555955
Sci Rep Β· 2018
1.00
2
Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.
PMID: 39930246
Adv Exp Med Biol Β· 2025
0.90
3
IFI44L and C1QTNF5 as promising biomarkers of proliferative diabetic retinopathy.
PMID: 36451477
Medicine (Baltimore) Β· 2022
0.80
4
C1QTNF5 is a novel attachment factor that facilitates the entry of influenza A virus.
PMID: 38246238
Virol Sin Β· 2024
0.70
5
Integrated analysis of ultra-deep proteomes in cortex, cerebrospinal fluid and serum reveals a mitochondrial signature in Alzheimer's disease.
PMID: 32711556
Mol Neurodegener Β· 2020
0.60