Details for: LHFPL3

Gene ID: 375612

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: LHFPL3

Ensembl ID: ENSG00000187416

Description: LHFPL tetraspan subfamily member 3

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • sst GABAergic cortical interneuron CL4023017
    CSI 35.49
    rCSI 45.75%
    PRS 99.67
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 34.96
    rCSI 63.52%
    PRS 99.74
  • oligodendrocyte precursor cell CL0002453
    CSI 28.89
    rCSI 63.58%
    PRS 99.15
  • retinal cone cell CL0000573
    CSI 26.73
    rCSI 43.03%
    PRS 99.12
  • rod bipolar cell CL0000751
    CSI 22.51
    rCSI 40.44%
    PRS 99.66
  • retinal rod cell CL0000604
    CSI 22.32
    rCSI 39.34%
    PRS 99.32
  • sncg GABAergic cortical interneuron CL4023015
    CSI 21.88
    rCSI 35.19%
    PRS 99.38
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 20.63
    rCSI 36.44%
    PRS 99.47
  • retinal ganglion cell CL0000740
    CSI 18.6
    rCSI 41.09%
    PRS 99.43
  • interneuron CL0000099
    CSI 16.22
    rCSI 32.56%
    PRS 99.77
  • retinal bipolar neuron CL0000748
    CSI 15.88
    rCSI 29.75%
    PRS 99.49
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 15.75
    rCSI 49.26%
    PRS 99.58
  • VIP GABAergic cortical interneuron CL4023016
    CSI 14.36
    rCSI 17.15%
    PRS 99.5
  • glycinergic amacrine cell CL4030028
    CSI 13.31
    rCSI 34.68%
    PRS 99.58
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 13.01
    rCSI 15.03%
    PRS 99.57
  • pulmonary alveolar type 2 cell CL0002063
    CSI 12.86
    rCSI 19.94%
    PRS 99.87
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 12.37
    rCSI 46.75%
    PRS 99.27
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 11.94
    rCSI 14.86%
    PRS 99.48
  • glioblast CL0000030
    CSI 11.75
    rCSI 18.75%
    PRS 99.56
  • melanocyte CL0000148
    CSI 11.63
    rCSI 8.62%
    PRS 99.58
  • inhibitory interneuron CL0000498
    CSI 11.36
    rCSI 26.23%
    PRS 99.66
  • amacrine cell CL0000561
    CSI 11
    rCSI 31.88%
    PRS 99.63
  • GABAergic amacrine cell CL4030027
    CSI 9.62
    rCSI 32.96%
    PRS 99.4
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 8.83
    rCSI 14.82%
    PRS 99.55
  • Mueller cell CL0000636
    CSI 8.73
    rCSI 19.92%
    PRS 99.55
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 8.66
    rCSI 12.28%
    PRS 99.76
  • L6b glutamatergic cortical neuron CL4023038
    CSI 8.26
    rCSI 25.82%
    PRS 99.48
  • diffuse bipolar 3a cell CL4033029
    CSI 7.78
    rCSI 52.94%
    PRS 99.49
  • neural cell CL0002319
    CSI 7.65
    rCSI 28.86%
    PRS 99.25
  • diffuse bipolar 3b cell CL4033030
    CSI 7.49
    rCSI 49.69%
    PRS 99.53
  • ependymal cell CL0000065
    CSI 7.41
    rCSI 15.04%
    PRS 98.46
  • flat midget bipolar cell CL4033033
    CSI 6.56
    rCSI 46.93%
    PRS 99.56
  • glial cell CL0000125
    CSI 6.51
    rCSI 24.8%
    PRS 99.36
  • central nervous system neuron CL2000029
    CSI 6.16
    rCSI 45.25%
    PRS 99.72
  • serotonergic neuron CL0000850
    CSI 5.85
    rCSI 26.13%
    PRS 99.05
  • neural progenitor cell CL0011020
    CSI 5.8
    rCSI 25.51%
    PRS 97.74
  • dopaminergic neuron CL0000700
    CSI 5.41
    rCSI 30.57%
    PRS 99.37
  • medial ganglionic eminence derived interneuron CL4023063
    CSI 5.22
    rCSI 52.18%
    PRS 97.7
  • peripheral nervous system neuron CL2000032
    CSI 5.16
    rCSI 7.04%
    PRS 99.59
  • diffuse bipolar 1 cell CL4033027
    CSI 5.08
    rCSI 38.19%
    PRS 99.36
  • alveolar macrophage CL0000583
    CSI 4.9
    rCSI 8.08%
    PRS 99.79
  • basket cell CL0000118
    CSI 4.9
    rCSI 30.69%
    PRS 98.92
  • GABAergic neuron CL0000617
    CSI 4.85
    rCSI 16.26%
    PRS 98.48
  • Bergmann glial cell CL0000644
    CSI 4.78
    rCSI 6.54%
    PRS 99.59
  • kidney connecting tubule epithelial cell CL1000768
    CSI 4.35
    rCSI 11.03%
    PRS 99.67
  • diffuse bipolar 2 cell CL4033028
    CSI 4.28
    rCSI 33.17%
    PRS 99.56
  • medium spiny neuron CL1001474
    CSI 3.83
    rCSI 33.01%
    PRS 99.63
  • retinal pigment epithelial cell CL0002586
    CSI 3.38
    rCSI 6.71%
    PRS 99.5
  • astrocyte of the cerebral cortex CL0002605
    CSI 3.37
    rCSI 7.56%
    PRS 99.48
  • invaginating midget bipolar cell CL4033034
    CSI 3.16
    rCSI 18.66%
    PRS 99.41
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 3.11
    rCSI 7.56%
    PRS 99.18
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 2.71
    rCSI 28.66%
    PRS 99.62
  • diffuse bipolar 4 cell CL4033031
    CSI 2.51
    rCSI 28.7%
    PRS 99.16
  • ON midget ganglion cell CL4033046
    CSI 2.47
    rCSI 50.32%
    PRS 99.61
  • OFF midget ganglion cell CL4033047
    CSI 2.38
    rCSI 48.52%
    PRS 99.64
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 2.36
    rCSI 6.09%
    PRS 99.86
  • direct pathway medium spiny neuron CL4023026
    CSI 2.15
    rCSI 51.41%
    PRS 98.91
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 2.13
    rCSI 7.01%
    PRS 99.44
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.12
    rCSI 51.24%
    PRS 98.85
  • diffuse bipolar 6 cell CL4033032
    CSI 1.96
    rCSI 10.29%
    PRS 99.53
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.78
    rCSI 6.41%
    PRS 99.3
  • starburst amacrine cell CL0004232
    CSI 1.44
    rCSI 12.09%
    PRS 99.32
  • ON parasol ganglion cell CL4033052
    CSI 1.22
    rCSI 17.27%
    PRS 99.59
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.89
    rCSI 5.24%
    PRS 99.4

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [LHFPL3](/details-gene/375612) (LHFPL tetraspan subfamily member 3) is a protein-coding gene located on chromosome 7, whose existence was characterized as part of large-scale human cDNA sequencing projects ([Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1126/science.1083423)). Functionally, it is annotated as a plasma membrane protein involved in sensory perception of sound. **Overall**, expression data reveals that [LHFPL3](/details-gene/375612) is a highly significant marker for a specific subset of cells within the central nervous system. Its expression is particularly prominent in various neuronal subtypes, including cortical interneurons and multiple retinal cell types, as well as in the oligodendrocyte lineage, suggesting a specialized role in neural development, function, and sensory processing. ## Cellular Roles and Expression Landscape The expression profile of [LHFPL3](/details-gene/375612) indicates a highly specific role within the nervous system. The gene demonstrates its highest significance in a diverse array of neural and glial cell types. **Overall**, the top cell types can be broadly categorized into three functional groups: * **Oligodendrocyte Lineage:** [LHFPL3](/details-gene/375612) is a top marker in both `differentiation-committed oligodendrocyte precursor` ([CL4023059](/details-cell/CL4023059)) and `oligodendrocyte precursor cell` ([CL0002453](/details-cell/CL0002453)), with CSI scores of 34.96 and 28.89, respectively. This strong association suggests a potential function in oligodendrocyte maturation, proliferation, or the initial stages of myelination. * **Cortical Interneurons:** The gene shows high significance in several subtypes of inhibitory interneurons, including `sst GABAergic cortical interneuron` ([CL4023017](/details-cell/CL4023017)), `sncg GABAergic cortical interneuron` ([CL4023015](/details-cell/CL4023015)), and `caudal ganglionic eminence derived cortical interneuron` ([CL4023064](/details-cell/CL4023064)). This pattern suggests it may contribute to the identity or function of specific inhibitory circuits in the cortex. * **Retinal Cells:** [LHFPL3](/details-gene/375612) is prominently expressed across multiple cell layers of the retina, including photoreceptors like `retinal cone cell` ([CL0000573](/details-cell/CL0000573)) and `retinal rod cell` ([CL0000604](/details-cell/CL0000604)), as well as intermediary neurons such as `rod bipolar cell` ([CL0000751](/details-cell/CL0000751)) and `retinal ganglion cell` ([CL0000740](/details-cell/CL0000740)). This widespread expression within the retinal circuitry points towards a fundamental role in visual processing or maintenance of retinal neuron integrity. The consistent and high significance of [LHFPL3](/details-gene/375612) across these specialized cell types underscores its role as a key component of the central nervous system, with specific functions likely tailored to glia, cortical circuits, and sensory retina. ## Pathways and Molecular Function Functional annotations provide further insight into the specific roles of [LHFPL3](/details-gene/375612). The gene is associated with the following Gene Ontology (GO) terms: * **Biological Process:** It is primarily linked to **sensory perception of sound** ([GO:0007605](https://www.ebi.ac.uk/QuickGO/term/GO:0007605)). While this function is specific to the auditory system, its high expression in retinal cells suggests it may participate in a broader, conserved mechanism of sensory transduction across different modalities. * **Molecular Function:** At the molecular level, it is known to be involved in **protein binding** ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). This suggests that [LHFPL3](/details-gene/375612) likely does not function in isolation but acts as part of a larger protein complex to exert its effects. * **Cellular Component:** Consistent with its role as a tetraspanin family member, it is localized to the **plasma membrane** ([GO:0005886](https://www.ebi.ac.uk/QuickGO/term/GO:0005886)). This membrane localization is a prerequisite for roles in cell-cell communication, signal reception, and interaction with the extracellular environment, which are all critical for neuronal and glial function. Together, these annotations depict [LHFPL3](/details-gene/375612) as a membrane-bound protein that likely forms complexes to mediate sensory signal processing in specialized neurons. ## Research Directions The specific expression pattern and functional annotation of [LHFPL3](/details--gene/375612) suggest several avenues for future investigation. Its highly restricted expression within the central nervous system makes it an intriguing subject for both basic neuroscience and translational research. **Proposed Hypotheses:** 1. Given its high significance in `oligodendrocyte precursor cells` ([CL0002453](/details-cell/CL0002453)) and its localization to the plasma membrane, [LHFPL3](/details-gene/375612) may function as a receptor or co-receptor that regulates oligodendrocyte differentiation and the initiation of myelination in response to axonal signals. 2. Based on its annotated function in sensory perception and its strong expression across multiple types of retinal neurons (e.g., `retinal cone cell` ([CL0000573](/details-cell/CL0000573)), `rod bipolar cell` ([CL0000751](/details-cell/CL0000751))), [LHFPL3](/details-gene/375612) may play a conserved role in the structural organization or function of synapses critical for phototransduction and visual signal transmission. **Experimental Approach:** To test the hypothesis that [LHFPL3](/details-gene/375612) is involved in oligodendrocyte maturation (Hypothesis 1), a targeted loss-of-function study could be performed. CRISPR-Cas9 could be used to knock out [LHFPL3](/details-gene/375612) in induced pluripotent stem cells (iPSCs), which would then be differentiated into `oligodendrocyte precursor cells` ([CL0002453](/details-cell/CL0002453)). These knockout and wild-type precursor cells could be co-cultured with primary neurons. The efficiency of differentiation into mature, myelinating oligodendrocytes could be quantified by measuring the expression of myelin-associated proteins (e.g., MBP, MAG) and by visualizing myelin sheath formation using high-resolution microscopy. A failure to properly differentiate or myelinate in the knockout cells would support a critical role for [LHFPL3](/details-gene/375612) in this process. **Therapeutic Potential:** The high specificity of [LHFPL3](/details-gene/375612) to glial and neuronal lineages, coupled with its plasma membrane location, makes it an attractive therapeutic target. If its role in promoting myelination is confirmed, developing agonists or gene therapies to enhance [LHFPL3](/details-gene/375612) function could be a viable strategy for treating demyelinating diseases like multiple sclerosis. Conversely, if it is found to be aberrantly expressed in CNS tumors like gliomas, it could be targeted for inhibition using monoclonal antibodies or antibody-drug conjugates, leveraging its cell-surface accessibility.

Genular Protein ID: 2885520545

Symbol: LHPL3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86UP9 A1L383 A4D0Q5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 236
  • Mass: 25769
  • Checksum: 6066467C92D6FFF5
  • Sequence:
    • MPGAAAAAAA AAAAMLPAQE AAKLYHTNYV RNSRAIGVLW AIFTICFAIV NVVCFIQPYW 
IGDGVDTPQA GYFGLFHYCI GNGFSRELTC RGSFTDFSTL PSGAFKAASF FIGLSMMLII 
ACIICFTLFF FCNTATVYKI CAWMQLTSAA CLVLGCMIFP DGWDSDEVKR MCGEKTDKYT 
LGACSVRWAY ILAIIGILDA LILSFLAFVL GNRQDSLMAE ELKAENKVLL SQYSLE