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GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SAMD7
sterile alpha motif domain containing 7
Chromosome 3 Β· 3q26.2
NCBI Gene: 344658Ensembl: ENSG00000187033.9HGNC: HGNC:25394UniProt: Q7Z3H4
13PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingchromatin bindinghistone bindingDNA-binding transcription repressor activity, RNA polymerase II-specificmacular dystrophy with or without cone dysfunctionneurodegenerative diseaseSleep Disorderretinitis pigmentosa
✦AI Summary

SAMD7 (sterile alpha motif domain containing 7) is a Polycomb repressive complex 1 (PRC1) component essential for photoreceptor cell identity and function 1. As a Crx-regulated transcriptional repressor, SAMD7 suppresses non-rod gene expression in developing rod photoreceptors by establishing repressive epigenetic marks, including H3K27me3 and H2AK119ub, thereby silencing transcription of inappropriate genes 2. SAMD7 localizes to both cytoplasm and nucleus, with particular abundance in retinal outer nuclear layer cells and inner nuclear layer cells 21. Clinically, bi-allelic SAMD7 mutations cause autosomal-recessive macular dystrophy with or without cone dysfunction, with variants affecting splicing or altering Crx-dependent repressive activity 1. Non-coding regulatory variants in Crx-binding regions of SAMD7 may contribute to retinitis pigmentosa phenotypes 3. Beyond ophthalmology, SAMD7 expression is modulated by vitamin D signaling in hepatic stellate cells 4 and genetic variants affecting SAMD7 transcription associate with gestational diabetes mellitus susceptibility 5. These findings demonstrate SAMD7's critical role in photoreceptor development and broader involvement in metabolic and immune processes.

Sources cited
1
SAMD7 is a Crx-regulated transcriptional repressor in retina that interferes with Crx-dependent transcription and localizes to cytoplasm and nucleus
PMID: 23565263
2
Bi-allelic SAMD7 mutations cause autosomal-recessive macular dystrophy with or without cone dysfunction; SAMD7 is a PRC1 component localizing to nuclei of rods and cones
PMID: 38272031
3
Non-coding SAMD7 variants in Crx-binding regions reduce SAMD7 reporter activity and may contribute to retinitis pigmentosa phenotypes
PMID: 26887858
4
SAMD7 expression is regulated by vitamin D signaling in hepatic stellate cells in the context of TGF-Ξ²1 signaling
PMID: 39814037
5
Genetic variants affecting SAMD7 mRNA levels associate with gestational diabetes mellitus susceptibility
PMID: 39103437
Disease Associationsβ“˜21
macular dystrophy with or without cone dysfunctionOpen Targets
0.67Moderate
neurodegenerative diseaseOpen Targets
0.24Weak
Sleep DisorderOpen Targets
0.14Weak
retinitis pigmentosaOpen Targets
0.11Weak
sleep apneaOpen Targets
0.10Weak
X-linked retinal dysplasiaOpen Targets
0.10Suggestive
age-related macular degenerationOpen Targets
0.09Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.08Suggestive
Stargardt diseaseOpen Targets
0.08Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.08Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.08Suggestive
Progressive cone dystrophyOpen Targets
0.07Suggestive
age related macular degeneration 11Open Targets
0.07Suggestive
age related macular degeneration 2Open Targets
0.07Suggestive
age related macular degeneration 4Open Targets
0.07Suggestive
age related macular degeneration 6Open Targets
0.07Suggestive
age related macular degeneration 7Open Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
Familial drusenOpen Targets
0.06Suggestive
X-linked retinoschisisOpen Targets
0.06Suggestive
Macular dystrophy with or without cone dysfunctionUniProt
Pathogenic Variants5
NM_001304366.2(SAMD7):c.919+1G>APathogenic
MACULAR DYSTROPHY WITH CONE DYSFUNCTION
β˜†β˜†β˜†β˜†2024
NM_001304366.2(SAMD7):c.211+1G>APathogenic
Macular dystrophy with or without cone dysfunction
β˜†β˜†β˜†β˜†2024
NM_001304366.2(SAMD7):c.1153G>A (p.Val385Ile)Pathogenic
Macular dystrophy with or without cone dysfunction
β˜†β˜†β˜†β˜†2024β†’ Residue 385
NM_001304366.2(SAMD7):c.992A>T (p.Asp331Val)Pathogenic
MACULAR DYSTROPHY WITH CONE DYSFUNCTION
β˜†β˜†β˜†β˜†2024β†’ Residue 331
NM_001304366.2(SAMD7):c.290+1G>APathogenic
MACULAR DYSTROPHY WITH CONE DYSFUNCTION
β˜†β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
TCEAL1Shared pathway33%CNPY2Shared pathway33%SFMBT2Shared pathway33%ZNF410Shared pathway33%SAMD11Shared pathway33%PARP15Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Heart
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
SAMD7TCEAL1CNPY2SFMBT2ZNF410SAMD11PARP15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z3H4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.18LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.57–1.18]
RankingsWhere SAMD7 stands among ~20K protein-coding genes
  • #16,287of 20,598
    Most Researched13
  • #3,648of 5,498
    Most Pathogenic Variants5
  • #12,421of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedSAMD7
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
1Ξ±,25(OH)2D3 Regulates the TGF-Ξ²1/Samd Signaling Pathway Inhibition of Hepatic Stellate Cell Activation.
PMID: 39814037
Drug Res (Stuttg) Β· 2025
1.00
2
Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina.
PMID: 23565263
PLoS One Β· 2013
0.88
3
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
PMID: 38272031
Am J Hum Genet Β· 2024
0.75
4
Functional genetic variants and susceptibility and prediction of gestational diabetes mellitus.
PMID: 39103437
Sci Rep Β· 2024
0.63
5
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
PMID: 26887858
Sci Rep Β· 2016
0.50