Details for: CL0000210

Cell ID: CL0000210

Cell Name: photoreceptor cell

Marker Score Threshold: 753
(Derived using integrated single-cell and genomic data)

Description: A cell specialized in detecting light stimuli that are involved in visual perception.

Image representation

Depiction of photoreceptor cell
Courtesy of SwissBioPics

Genes (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Gene Symbol: SYT1 (ENSG00000067715)
    Fold Change: 12.43
    Ensembl ID: ENSG00000067715
  • Gene Symbol: ROBO2 (ENSG00000185008)
    Fold Change: 10.65
    Ensembl ID: ENSG00000185008
  • Gene Symbol: NRG1 (ENSG00000157168)
    Fold Change: 10.56
    Ensembl ID: ENSG00000157168
  • Gene Symbol: RORB (ENSG00000198963)
    Fold Change: 10.5
    Ensembl ID: ENSG00000198963
  • Gene Symbol: GPC6 (ENSG00000183098)
    Fold Change: 10
    Ensembl ID: ENSG00000183098
  • Gene Symbol: CADPS (ENSG00000163618)
    Fold Change: 9.28
    Ensembl ID: ENSG00000163618
  • Gene Symbol: MPPED2 (ENSG00000066382)
    Fold Change: 9.16
    Ensembl ID: ENSG00000066382
  • Gene Symbol: GPM6A (ENSG00000150625)
    Fold Change: 8.32
    Ensembl ID: ENSG00000150625
  • Gene Symbol: CACNA2D1 (ENSG00000153956)
    Fold Change: 7.55
    Ensembl ID: ENSG00000153956
  • Gene Symbol: RORA (ENSG00000069667)
    Fold Change: 6.83
    Ensembl ID: ENSG00000069667
  • Gene Symbol: RERE (ENSG00000142599)
    Fold Change: 6.7
    Ensembl ID: ENSG00000142599
  • Gene Symbol: NOL4 (ENSG00000101746)
    Fold Change: 6.45
    Ensembl ID: ENSG00000101746
  • Gene Symbol: CTNND2 (ENSG00000169862)
    Fold Change: 6.39
    Ensembl ID: ENSG00000169862
  • Gene Symbol: TCF12 (ENSG00000140262)
    Fold Change: 6.17
    Ensembl ID: ENSG00000140262
  • Gene Symbol: DST (ENSG00000151914)
    Fold Change: 6.01
    Ensembl ID: ENSG00000151914
  • Gene Symbol: CDH2 (ENSG00000170558)
    Fold Change: 5.99
    Ensembl ID: ENSG00000170558
  • Gene Symbol: MAGI1 (ENSG00000151276)
    Fold Change: 5.97
    Ensembl ID: ENSG00000151276
  • Gene Symbol: PTPN13 (ENSG00000163629)
    Fold Change: 5.88
    Ensembl ID: ENSG00000163629
  • Gene Symbol: EPB41L2 (ENSG00000079819)
    Fold Change: 5.8
    Ensembl ID: ENSG00000079819
  • Gene Symbol: DLEU2 (ENSG00000231607)
    Fold Change: 5.67
    Ensembl ID: ENSG00000231607
  • Gene Symbol: AKT3 (ENSG00000117020)
    Fold Change: 5.65
    Ensembl ID: ENSG00000117020
  • Gene Symbol: KCNB2 (ENSG00000182674)
    Fold Change: 5.62
    Ensembl ID: ENSG00000182674
  • Gene Symbol: RIMS2 (ENSG00000176406)
    Fold Change: 5.58
    Ensembl ID: ENSG00000176406
  • Gene Symbol: MAP1B (ENSG00000131711)
    Fold Change: 5.46
    Ensembl ID: ENSG00000131711
  • Gene Symbol: PPFIA2 (ENSG00000139220)
    Fold Change: 5.35
    Ensembl ID: ENSG00000139220
  • Gene Symbol: IGF1R (ENSG00000140443)
    Fold Change: 5.31
    Ensembl ID: ENSG00000140443
  • Gene Symbol: GPC5 (ENSG00000179399)
    Fold Change: 5.27
    Ensembl ID: ENSG00000179399
  • Gene Symbol: MEIS2 (ENSG00000134138)
    Fold Change: 5.03
    Ensembl ID: ENSG00000134138
  • Gene Symbol: PIK3R1 (ENSG00000145675)
    Fold Change: 4.98
    Ensembl ID: ENSG00000145675
  • Gene Symbol: KALRN (ENSG00000160145)
    Fold Change: 4.92
    Ensembl ID: ENSG00000160145
  • Gene Symbol: LSAMP (ENSG00000185565)
    Fold Change: 4.77
    Ensembl ID: ENSG00000185565
  • Gene Symbol: PTPRD (ENSG00000153707)
    Fold Change: 4.77
    Ensembl ID: ENSG00000153707
  • Gene Symbol: GRID2 (ENSG00000152208)
    Fold Change: 4.72
    Ensembl ID: ENSG00000152208
  • Gene Symbol: PRKACB (ENSG00000142875)
    Fold Change: 4.68
    Ensembl ID: ENSG00000142875
  • Gene Symbol: NRXN1 (ENSG00000179915)
    Fold Change: 4.67
    Ensembl ID: ENSG00000179915
  • Gene Symbol: NFIB (ENSG00000147862)
    Fold Change: 4.65
    Ensembl ID: ENSG00000147862
  • Gene Symbol: DMD (ENSG00000198947)
    Fold Change: 4.52
    Ensembl ID: ENSG00000198947
  • Gene Symbol: PBX1 (ENSG00000185630)
    Fold Change: 4.52
    Ensembl ID: ENSG00000185630
  • Gene Symbol: PDE1C (ENSG00000154678)
    Fold Change: 4.5
    Ensembl ID: ENSG00000154678
  • Gene Symbol: ZNF536 (ENSG00000198597)
    Fold Change: 4.38
    Ensembl ID: ENSG00000198597
  • Gene Symbol: TBC1D5 (ENSG00000131374)
    Fold Change: 4.35
    Ensembl ID: ENSG00000131374
  • Gene Symbol: CAMK2D (ENSG00000145349)
    Fold Change: 4.3
    Ensembl ID: ENSG00000145349
  • Gene Symbol: NRCAM (ENSG00000091129)
    Fold Change: 4.29
    Ensembl ID: ENSG00000091129
  • Gene Symbol: BMPR2 (ENSG00000204217)
    Fold Change: 4.28
    Ensembl ID: ENSG00000204217
  • Gene Symbol: ZEB1 (ENSG00000148516)
    Fold Change: 4.23
    Ensembl ID: ENSG00000148516
  • Gene Symbol: SLC8A1 (ENSG00000183023)
    Fold Change: 4.18
    Ensembl ID: ENSG00000183023
  • Gene Symbol: ITSN1 (ENSG00000205726)
    Fold Change: 4.09
    Ensembl ID: ENSG00000205726
  • Gene Symbol: NCOA1 (ENSG00000084676)
    Fold Change: 4.05
    Ensembl ID: ENSG00000084676
  • Gene Symbol: NRXN3 (ENSG00000021645)
    Fold Change: 3.95
    Ensembl ID: ENSG00000021645
  • Gene Symbol: PRDM1 (ENSG00000057657)
    Fold Change: 3.94
    Ensembl ID: ENSG00000057657
  • Gene Symbol: DLG2 (ENSG00000150672)
    Fold Change: 3.89
    Ensembl ID: ENSG00000150672
  • Gene Symbol: MEIS1 (ENSG00000143995)
    Fold Change: 3.89
    Ensembl ID: ENSG00000143995
  • Gene Symbol: TCF4 (ENSG00000196628)
    Fold Change: 3.84
    Ensembl ID: ENSG00000196628
  • Gene Symbol: STXBP5L (ENSG00000145087)
    Fold Change: 3.83
    Ensembl ID: ENSG00000145087
  • Gene Symbol: PTPRG (ENSG00000144724)
    Fold Change: 3.81
    Ensembl ID: ENSG00000144724
  • Gene Symbol: EPB41 (ENSG00000159023)
    Fold Change: 3.78
    Ensembl ID: ENSG00000159023
  • Gene Symbol: OTX2 (ENSG00000165588)
    Fold Change: 3.78
    Ensembl ID: ENSG00000165588
  • Gene Symbol: BPTF (ENSG00000171634)
    Fold Change: 3.76
    Ensembl ID: ENSG00000171634
  • Gene Symbol: AKAP9 (ENSG00000127914)
    Fold Change: 3.74
    Ensembl ID: ENSG00000127914
  • Gene Symbol: GRIK2 (ENSG00000164418)
    Fold Change: 3.74
    Ensembl ID: ENSG00000164418
  • Gene Symbol: PTK2 (ENSG00000169398)
    Fold Change: 3.69
    Ensembl ID: ENSG00000169398
  • Gene Symbol: EYA2 (ENSG00000064655)
    Fold Change: 3.66
    Ensembl ID: ENSG00000064655
  • Gene Symbol: USH2A (ENSG00000042781)
    Fold Change: 3.64
    Ensembl ID: ENSG00000042781
  • Gene Symbol: CUX1 (ENSG00000257923)
    Fold Change: 3.63
    Ensembl ID: ENSG00000257923
  • Gene Symbol: EPS8 (ENSG00000151491)
    Fold Change: 3.63
    Ensembl ID: ENSG00000151491
  • Gene Symbol: NF1 (ENSG00000196712)
    Fold Change: 3.52
    Ensembl ID: ENSG00000196712
  • Gene Symbol: LRBA (ENSG00000198589)
    Fold Change: 3.51
    Ensembl ID: ENSG00000198589
  • Gene Symbol: TOX (ENSG00000198846)
    Fold Change: 3.51
    Ensembl ID: ENSG00000198846
  • Gene Symbol: POU2F1 (ENSG00000143190)
    Fold Change: 3.49
    Ensembl ID: ENSG00000143190
  • Gene Symbol: CPE (ENSG00000109472)
    Fold Change: 3.49
    Ensembl ID: ENSG00000109472
  • Gene Symbol: PCCA (ENSG00000175198)
    Fold Change: 3.48
    Ensembl ID: ENSG00000175198
  • Gene Symbol: SMAD2 (ENSG00000175387)
    Fold Change: 3.48
    Ensembl ID: ENSG00000175387
  • Gene Symbol: MCC (ENSG00000171444)
    Fold Change: 3.45
    Ensembl ID: ENSG00000171444
  • Gene Symbol: TEAD1 (ENSG00000187079)
    Fold Change: 3.33
    Ensembl ID: ENSG00000187079
  • Gene Symbol: MAGI2 (ENSG00000187391)
    Fold Change: 3.32
    Ensembl ID: ENSG00000187391
  • Gene Symbol: LDLRAD4 (ENSG00000168675)
    Fold Change: 3.3
    Ensembl ID: ENSG00000168675
  • Gene Symbol: TSPAN5 (ENSG00000168785)
    Fold Change: 3.29
    Ensembl ID: ENSG00000168785
  • Gene Symbol: NEUROD1 (ENSG00000162992)
    Fold Change: 3.28
    Ensembl ID: ENSG00000162992
  • Gene Symbol: SNAP25 (ENSG00000132639)
    Fold Change: 3.28
    Ensembl ID: ENSG00000132639
  • Gene Symbol: BRAF (ENSG00000157764)
    Fold Change: 3.27
    Ensembl ID: ENSG00000157764
  • Gene Symbol: DCT (ENSG00000080166)
    Fold Change: 3.27
    Ensembl ID: ENSG00000080166
  • Gene Symbol: MAP2 (ENSG00000078018)
    Fold Change: 3.26
    Ensembl ID: ENSG00000078018
  • Gene Symbol: UBE2E2 (ENSG00000182247)
    Fold Change: 3.25
    Ensembl ID: ENSG00000182247
  • Gene Symbol: CNTN1 (ENSG00000018236)
    Fold Change: 3.24
    Ensembl ID: ENSG00000018236
  • Gene Symbol: ATP1B2 (ENSG00000129244)
    Fold Change: 3.21
    Ensembl ID: ENSG00000129244
  • Gene Symbol: NELL2 (ENSG00000184613)
    Fold Change: 3.21
    Ensembl ID: ENSG00000184613
  • Gene Symbol: RABGAP1L (ENSG00000152061)
    Fold Change: 3.2
    Ensembl ID: ENSG00000152061
  • Gene Symbol: MAP7 (ENSG00000135525)
    Fold Change: 3.19
    Ensembl ID: ENSG00000135525
  • Gene Symbol: RFX3 (ENSG00000080298)
    Fold Change: 3.19
    Ensembl ID: ENSG00000080298
  • Gene Symbol: PCDH9 (ENSG00000184226)
    Fold Change: 3.18
    Ensembl ID: ENSG00000184226
  • Gene Symbol: SORBS2 (ENSG00000154556)
    Fold Change: 3.17
    Ensembl ID: ENSG00000154556
  • Gene Symbol: TTC3 (ENSG00000182670)
    Fold Change: 3.15
    Ensembl ID: ENSG00000182670
  • Gene Symbol: ATP2B1 (ENSG00000070961)
    Fold Change: 3.11
    Ensembl ID: ENSG00000070961
  • Gene Symbol: EIF4G3 (ENSG00000075151)
    Fold Change: 3.05
    Ensembl ID: ENSG00000075151
  • Gene Symbol: CBFA2T2 (ENSG00000078699)
    Fold Change: 3.04
    Ensembl ID: ENSG00000078699
  • Gene Symbol: MAPK8 (ENSG00000107643)
    Fold Change: 3.04
    Ensembl ID: ENSG00000107643
  • Gene Symbol: PTPRF (ENSG00000142949)
    Fold Change: 2.99
    Ensembl ID: ENSG00000142949
  • Gene Symbol: MYO9A (ENSG00000066933)
    Fold Change: 2.99
    Ensembl ID: ENSG00000066933
  • Gene Symbol: PTPRZ1 (ENSG00000106278)
    Fold Change: 2.98
    Ensembl ID: ENSG00000106278
  • Gene Symbol: USP34 (ENSG00000115464)
    Fold Change: 2.93
    Ensembl ID: ENSG00000115464

Gene ID: A unique numerical identifier for this specific gene.
Symbol: Shortened abbreviation or name that represents this gene.
Ensembl Gene ID: A unique identifier assigned by Ensembl for genomic data mapping.
Fold Change: Indicates the ratio of the gene's expression level in photoreceptor cell cell compared to a baseline. A fold change greater than 1 suggests significant gene expression.

Gene ID: A unique numerical identifier for this specific gene.
Symbol: Shortened abbreviation or name that represents this gene.
Ensembl Gene ID: A unique identifier assigned by Ensembl for genomic data mapping.
Fold Change: Indicates the ratio of the gene's expression level in photoreceptor cell cell compared to a baseline. A fold change greater than 1 suggests significant gene expression.
**Key Characteristics** * **Photoreceptor cells**: specialized cells in the retina responsible for detecting light stimuli and transmitting visual information to the brain. * **SYT1 gene**: involved in calcium-dependent activation of synaptic vesicle fusion and regulation of neurotransmitter release. * **ROBO2 gene**: involved in axon guidance, neuronal development, and synaptic transmission. * **NRG1 gene**: involved in activation of NMDA receptors and postsynaptic events, as well as regulation of cell communication and differentiation. * **GPC6 gene**: involved in the synthesis of glycosaminoglycans, which are essential components of the extracellular matrix. **Clinical Significance** * **Visual perception disorders**: alterations in photoreceptor cell function and gene expression can lead to visual perception disorders, such as blindness or impaired vision. * **Neurodegenerative diseases**: dysregulation of genes involved in photoreceptor cell function, such as ROBO2 and NRG1, has been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. * **Cancer**: alterations in gene expression, including those involved in glycosaminoglycan synthesis (GPC6), have been implicated in cancer development and progression. * **Neurodevelopmental disorders**: dysregulation of genes involved in axon guidance and neuronal development, such as ROBO2, has been implicated in neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. **Disease Associations** * **Retinitis pigmentosa**: a genetic disorder characterized by progressive vision loss due to photoreceptor cell degeneration. * **Leber congenital amaurosis**: a genetic disorder characterized by severe vision loss or blindness due to photoreceptor cell degeneration. * **Alzheimer's disease**: dysregulation of genes involved in photoreceptor cell function, such as ROBO2 and NRG1, has been implicated in Alzheimer's disease. * **Parkinson's disease**: dysregulation of genes involved in photoreceptor cell function, such as ROBO2 and NRG1, has been implicated in Parkinson's disease. **Mechanisms of Disease** * **Calcium-dependent activation of synaptic vesicle fusion**: dysregulation of the SYT1 gene can lead to impaired calcium-dependent activation of synaptic vesicle fusion, resulting in impaired neurotransmitter release and visual perception disorders. * **Axon guidance and neuronal development**: dysregulation of the ROBO2 gene can lead to impaired axon guidance and neuronal development, resulting in neurodevelopmental disorders. * **Glycosaminoglycan synthesis**: dysregulation of the GPC6 gene can lead to impaired glycosaminoglycan synthesis, resulting in impaired extracellular matrix structure and function, which can contribute to various diseases. **Future Directions** * **Gene therapy**: targeting the SYT1, ROBO2, and NRG1 genes to restore photoreceptor cell function and improve visual perception in individuals with visual perception disorders. * **Small molecule therapies**: targeting the GPC6 gene to restore glycosaminoglycan synthesis and improve extracellular matrix structure and function in individuals with diseases associated with impaired glycosaminoglycan synthesis. * **Neurodevelopmental disorder research**: investigating the role of the ROBO2 gene in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia, to develop novel therapeutic strategies.