Details for: ELAPOR2

Gene ID: 222223

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: ELAPOR2

Ensembl ID: ENSG00000164659

Description: endosome-lysosome associated apoptosis and autophagy regulator family member 2

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 30.21
    rCSI 50.71%
    PRS 86.27
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 21.41
    rCSI 26.63%
    PRS 84.05
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 14.01
    rCSI 43.82%
    PRS 88.56
  • sncg GABAergic cortical interneuron CL4023015
    CSI 11.94
    rCSI 19.21%
    PRS 87.02
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 10.89
    rCSI 39.18%
    PRS 84.56
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 9.58
    rCSI 36.19%
    PRS 86.24
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 9.07
    rCSI 10.99%
    PRS 77.93
  • oligodendrocyte CL0000128
    CSI 6.73
    rCSI 19.9%
    PRS 87.61
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 6.72
    rCSI 11.86%
    PRS 85.56
  • cardiac muscle cell CL0000746
    CSI 5.87
    rCSI 8.43%
    PRS 88.71
  • retinal bipolar neuron CL0000748
    CSI 5.68
    rCSI 10.64%
    PRS 88.99
  • innate lymphoid cell CL0001065
    CSI 5.63
    rCSI 11.62%
    PRS 88.95
  • melanocyte of skin CL1000458
    CSI 4.86
    rCSI 6.63%
    PRS 70.26
  • central nervous system neuron CL2000029
    CSI 4.73
    rCSI 34.78%
    PRS 89.37
  • cytotoxic T cell CL0000910
    CSI 4.05
    rCSI 23.19%
    PRS 92.3
  • interneuron CL0000099
    CSI 3.98
    rCSI 7.99%
    PRS 90.88
  • cardiac endothelial cell CL0010008
    CSI 3.94
    rCSI 15.91%
    PRS 95.23
  • lung secretory cell CL1000272
    CSI 3.87
    rCSI 9.58%
    PRS 95.92
  • retina horizontal cell CL0000745
    CSI 3.81
    rCSI 5.81%
    PRS 92.39
  • inhibitory interneuron CL0000498
    CSI 3.8
    rCSI 8.77%
    PRS 88.33
  • sst GABAergic cortical interneuron CL4023017
    CSI 3.75
    rCSI 4.83%
    PRS 87.07
  • VIP GABAergic cortical interneuron CL4023016
    CSI 3.59
    rCSI 4.29%
    PRS 86.15
  • cerebral cortex neuron CL0010012
    CSI 3.45
    rCSI 14.05%
    PRS 89.08
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 3.13
    rCSI 7.6%
    PRS 84.28
  • hepatic stellate cell CL0000632
    CSI 3.11
    rCSI 11.67%
    PRS 92.24
  • choroid plexus epithelial cell CL0000706
    CSI 2.98
    rCSI 4.87%
    PRS 89.94
  • L6b glutamatergic cortical neuron CL4023038
    CSI 2.95
    rCSI 9.22%
    PRS 87.1
  • cerebellar granule cell CL0001031
    CSI 2.93
    rCSI 4.31%
    PRS 91.31
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.82
    rCSI 6.32%
    PRS 86.21
  • cerebral cortex endothelial cell CL1001602
    CSI 2.75
    rCSI 4.75%
    PRS 91.5
  • basal cell of epidermis CL0002187
    CSI 2.6
    rCSI 4.61%
    PRS 70.36
  • renal principal cell CL0005009
    CSI 2.38
    rCSI 6.19%
    PRS 94.18
  • neuron CL0000540
    CSI 2.36
    rCSI 6.28%
    PRS 85.13
  • pulmonary alveolar type 2 cell CL0002063
    CSI 2.32
    rCSI 3.59%
    PRS 95.01
  • pulmonary alveolar type 1 cell CL0002062
    CSI 2.21
    rCSI 12.74%
    PRS 92.74
  • direct pathway medium spiny neuron CL4023026
    CSI 2.16
    rCSI 51.82%
    PRS 83.98
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.14
    rCSI 51.65%
    PRS 83.81
  • rod bipolar cell CL0000751
    CSI 2.13
    rCSI 3.82%
    PRS 91.07
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 2.07
    rCSI 4.49%
    PRS 86.13
  • dopaminergic neuron CL0000700
    CSI 2.02
    rCSI 11.41%
    PRS 86.95
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 2.01
    rCSI 11.81%
    PRS 86.57
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 1.93
    rCSI 3.5%
    PRS 90.57
  • glutamatergic neuron CL0000679
    CSI 1.91
    rCSI 3.92%
    PRS 85.69
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 1.86
    rCSI 4.46%
    PRS 87.24
  • retinal blood vessel endothelial cell CL0002585
    CSI 1.81
    rCSI 2.89%
    PRS 96
  • retinal ganglion cell CL0000740
    CSI 1.71
    rCSI 3.78%
    PRS 87.38
  • amacrine cell CL0000561
    CSI 1.56
    rCSI 4.53%
    PRS 88.72
  • GABAergic neuron CL0000617
    CSI 1.55
    rCSI 5.2%
    PRS 84.62
  • parietal epithelial cell CL1000452
    CSI 1.45
    rCSI 3.89%
    PRS 91.4
  • mesothelial cell CL0000077
    CSI 1.4
    rCSI 5.47%
    PRS 83.47
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.39
    rCSI 3.54%
    PRS 91.13
  • helper T cell CL0000912
    CSI 1.32
    rCSI 1.87%
    PRS 89.93
  • GABAergic amacrine cell CL4030027
    CSI 1.25
    rCSI 4.28%
    PRS 84.92
  • H1 horizontal cell CL0004217
    CSI 1.24
    rCSI 4.91%
    PRS 90.09
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.22
    rCSI 4.03%
    PRS 86.13
  • medium spiny neuron CL1001474
    CSI 1.22
    rCSI 10.49%
    PRS 89.1
  • blood vessel smooth muscle cell CL0019018
    CSI 1.22
    rCSI 9.89%
    PRS 93.7
  • suprabasal keratinocyte CL4033013
    CSI 1.2
    rCSI 1.96%
    PRS 70.67
  • serotonergic neuron CL0000850
    CSI 1.17
    rCSI 5.21%
    PRS 83.26
  • invaginating midget bipolar cell CL4033034
    CSI 1.05
    rCSI 6.2%
    PRS 87.33
  • endothelial cell of placenta CL0009092
    CSI 1.04
    rCSI 5.14%
    PRS 96.34
  • H2 horizontal cell CL0004218
    CSI 0.86
    rCSI 4.3%
    PRS 90.64
  • starburst amacrine cell CL0004232
    CSI 0.71
    rCSI 5.98%
    PRS 83.23
  • diffuse bipolar 1 cell CL4033027
    CSI 0.7
    rCSI 5.23%
    PRS 85.36
  • OFF midget ganglion cell CL4033047
    CSI 0.67
    rCSI 13.64%
    PRS 88.66
  • ON midget ganglion cell CL4033046
    CSI 0.66
    rCSI 13.54%
    PRS 88.19
  • ON parasol ganglion cell CL4033052
    CSI 0.56
    rCSI 7.97%
    PRS 88.85

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 [ELAPOR2](/details-gene/222223) (endosome-lysosome associated apoptosis and autophagy regulator family member 2) is a protein-coding gene located on chromosome 7q21.12. Functional annotations suggest its role as a membrane-associated protein involved in the regulation of key developmental signaling pathways. Specifically, it participates in Bone Morphogenetic Protein (BMP) signaling by binding to BMP receptors, which is consistent with its annotated functions in negatively regulating nervous system development and positively regulating epidermis development. **Overall** expression data reveals that [ELAPOR2](/details-gene/222223) is a highly significant marker for specific neuronal subtypes within the cerebral cortex, particularly various GABAergic interneurons, suggesting a specialized role in establishing or maintaining neuronal identity and function. ## Cellular Roles and Expression Landscape The expression profile of [ELAPOR2](/details-gene/222223) points to a predominant role within the central nervous system, where it acts as a defining marker for several distinct neuronal populations. Its highest significance is observed in inhibitory interneurons of the cortex, including [lamp5 GABAergic cortical interneuron](/details-cell/CL4023011) (CSI: 30.21), [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) (CSI: 21.41), and [chandelier pvalb GABAergic cortical interneuron](/details-cell/CL4023036) (CSI: 14.01). Significant expression is also noted in excitatory neurons, such as [L5 extratelencephalic projecting glutamatergic cortical neuron](/details-cell/CL4023041) (CSI: 10.89). This specific and high-level expression across multiple cortical neuron subtypes underscores its potential importance in cerebral cortical circuits. Beyond cortical neurons, [ELAPOR2](/details-gene/222223) shows moderate significance in other neural cell types, including [oligodendrocyte](/details-cell/CL0000128) and [retinal bipolar neuron](/details-cell/CL0000748), further solidifying its association with the nervous system. Interestingly, a notable signal is also detected in select non-neuronal cells, such as [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203), [cardiac muscle cell](/details-cell/CL0000746), and [melanocyte of skin](/details-cell/CL1000458), suggesting its functions may extend beyond neural development and maintenance. ## Pathways and Molecular Function The functional annotations for [ELAPOR2](/details-gene/222223) are highly consistent with its observed expression pattern in the nervous system. The gene product is localized to the [membrane](/details-go/GO:0016020) and specifically the [plasma membrane](/details-go/GO:0005886), where it is annotated with [BMP receptor binding](/details-go/GO:0070700) molecular function. This binding activity directly implicates it in the [positive regulation of bmp signaling pathway](/details-go/GO:0030513). The BMP pathway is a critical regulator of cell fate, differentiation, and morphogenesis during embryonic development. The involvement of [ELAPOR2](/details-gene/222223) in this pathway provides a mechanistic basis for its annotated biological processes, which include [negative regulation of nervous system development](/details-go/GO:0051961) and [positive regulation of epidermis development](/details-go/GO:0045684). Research in *Xenopus* has demonstrated the expression of the [ELAPOR2](/details-gene/222223) ortholog during early development, consistent with a fundamental role in these processes ([Link](https://doi.org/10.1016/j.modgep.2007.03.004)). Its high expression in terminally differentiated neurons suggests it may modulate BMP signaling to maintain mature neuronal phenotypes or regulate synaptic plasticity. ## Research Directions The specific expression of [ELAPOR2](/details-gene/222223) in distinct neuronal subtypes, combined with its function as a modulator of the crucial BMP signaling pathway, opens several avenues for future investigation. Its role appears to be central to neuronal specification and maintenance. **Proposed Testable Hypotheses:** 1. [ELAPOR2](/details-gene/222223) is essential for the terminal differentiation and subtype specification of cortical interneurons. Its expression in Lamp5+ and Pvalb+ lineages may be required to modulate local BMP signals, thereby guiding these cells to their correct laminar position and functional identity. 2. In mature neurons, [ELAPOR2](/details-gene/222223) functions to maintain the post-mitotic state and inhibit dedifferentiation. By negatively regulating aspects of nervous system development post-maturation, it may act as a safeguard against aberrant cell cycle re-entry or plasticity, processes implicated in neurodegenerative diseases. **Suggested Experimental Approach:** To test the hypothesis that [ELAPOR2](/details-gene/222223) is critical for cortical interneuron development, a loss-of-function study in a mouse model would be highly informative. Using CRISPR-Cas9 or shRNA delivered via in utero electroporation into the medial ganglionic eminence of embryonic mice, one could specifically knock down [ELAPOR2](/details-gene/222223) in interneuron progenitors. The subsequent migration, morphological development, and subtype identity of these manipulated interneurons could be analyzed in the postnatal cortex using a combination of single-cell RNA sequencing to assess transcriptional identity and immunohistochemistry to verify protein marker expression (e.g., Pvalb, Lamp5) and cell positioning. **Therapeutic Potential:** As a plasma membrane protein with a potential role in modulating a key signaling pathway, [ELAPOR2](/details-gene/222223) could represent a druggable target. Its high specificity for certain neuronal subtypes is particularly attractive, as it may allow for targeted therapeutic intervention with reduced off-target effects. If dysregulation of [ELAPOR2](/details-gene/222223) is linked to neurological disorders characterized by interneuron dysfunction, such as epilepsy or certain psychiatric conditions, it could be a target for small molecules or biologics. Whether therapeutic intervention would require inhibition or activation would depend on its precise role in the pathophysiology of a given disease.

Genular Protein ID: 1637978591

Symbol: ELAP2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8MWY0 A4D1C9 B4DJV3 Q17RI6 Q96DP2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 4 SMART 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 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: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

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

PubMed ID: 17475571

Title: Expression of estrogen induced gene 121-like (EIG121L) during early Xenopus development.

PubMed ID: 17475571

DOI: 10.1016/j.modgep.2007.03.004

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

Sequence Information:

  • Length: 1029
  • Mass: 113842
  • Checksum: BF7E919BAB202DAF
  • Sequence:
    • MLFRARGPVR GRGWGRPAEA PRRGRSPPWS PAWICCWALA GCQAAWAGDL PSSSSRPLPP 
CQEKDYHFEY TECDSSGSRW RVAIPNSAVD CSGLPDPVRG KECTFSCASG EYLEMKNQVC 
SKCGEGTYSL GSGIKFDEWD ELPAGFSNIA TFMDTVVGPS DSRPDGCNNS SWIPRGNYIE 
SNRDDCTVSL IYAVHLKKSG YVFFEYQYVD NNIFFEFFIQ NDQCQEMDTT TDKWVKLTDN 
GEWGSHSVML KSGTNILYWR TTGILMGSKA VKPVLVKNIT IEGVAYTSEC FPCKPGTFSN 
KPGSFNCQVC PRNTYSEKGA KECIRCKDDS QFSEEGSSEC TERPPCTTKD YFQIHTPCDE 
EGKTQIMYKW IEPKICREDL TDAIRLPPSG EKKDCPPCNP GFYNNGSSSC HPCPPGTFSD 
GTKECRPCPA GTEPALGFEY KWWNVLPGNM KTSCFNVGNS KCDGMNGWEV AGDHIQSGAG 
GSDNDYLILN LHIPGFKPPT SMTGATGSEL GRITFVFETL CSADCVLYFM VDINRKSTNV 
VESWGGTKEK QAYTHIIFKN ATFTFTWAFQ RTNQGQDNRR FINDMVKIYS ITATNAVDGV 
ASSCRACALG SEQSGSSCVP CPPGHYIEKE TNQCKECPPD TYLSIHQVYG KEACIPCGPG 
SKNNQDHSVC YSDCFFYHEK ENQSLHYDFS NLSSVGSLMN GPSFTSKGTK YFHFFNISLC 
GHEGKKMALC TNNITDFTVK EIVAGSDDYT NLVGAFVCQS TIIPSESKGF RAALSSQSII 
LADTFIGVTV ETTLKNINIK EDMFPVPTSQ IPDVHFFYKS STATTSCING RSTAVKMRCN 
PTKSGAGVIS VPSKCPAGTC DGCTFYFLWE SAEACPLCTE HDFHEIEGAC KRGFQETLYV 
WNEPKWCIKG ISLPEKKLAT CETVDFWLKV GAGVGAFTAV LLVALTCYFW KKNQKLEYKY 
SKLVMTTNSK ECELPAADSC AIMEGEDNEE EVVYSNKQSL LGKLKSLATK EKEDHFESVQ 
LKTSRSPNI

Genular Protein ID: 3833308840

Symbol: B4E116_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4E116

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 2 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 RefSeq 2 SAM 1 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 915
  • Mass: 101370
  • Checksum: 04DB1A03D35EE3EA
  • Sequence:
    • MKNQVCSKCG EGAYSLGSGI KFDEWDELPA GFSNIATFMD TVVGPSDSRP DGCNNSSWIP 
RGNYIESNRD DCTVSLIYAV HLKKSGYVFF EYQYVDNNIF FEFFIQNDQC QEMDTTTDKW 
VKLTDNGEWG SHSVMLKSGT NILYWRTTGI LMGSKAVKPV LVKNITIEGV AYTSECFPCK 
PGTFSNKPGS FNCQVCPRNT YSEKGAKECI RCKDDSQFSE EGSGECTERP PCTTKDYFQI 
HTPCDEEGRT QIMYKWIEPK ICREDLTDAI RLPPSGEKKD CPPCNPGFYN NGSSFCHPCP 
PGTFSDGTKE CRPCPAGTEP ALGFEYKWWN VLPGNMKTSC FNVGNSKCDG MNGWEVAGDH 
IQSGAGGSDN DYLILNLHIP GFKPPTSMTG ATGSELGRIT FVFETLCSAD CVLYFMVDIN 
RKSTNVVESW GGTKEKQAYT HIIFENATFT FTWAFQRTNQ GQDNRRFIND MVKIYSITAT 
NAVDGVASSC RACALGSEQS GSSCVPCPPG HYIEKETNQC KECPPDTYLS IHQVYGKEAC 
IPCGPGSKNN QDHSVCYSDC FFYHEKENQS LHYDFSNLSS VGSLMNGPSF TSKGTKYFHF 
FNISLCGHEG KKMALCTNNI TDFTVKEIVA GSDDYTNLVG AFVCQSTIIP SESKGFRAAL 
SSQSIILADT FIGVTVETTL KNINIKEDMF PVPTSQIPDV HFFYKSSTAT TSCINGRSTA 
VKMRCNPTKS GAGVISVPSK CPAGTCDGCT FYFLWESAEA CPLCTEHDFH EIEGACKRGF 
QETLYVWNEP KWCIKGISLP EKKLATCETV DFWLKVGAGV GAFTAVLLVA LTCYFWKKNQ 
KLEYKYSKLV MTTNSKECEL PAADSCAIME GEDNEEEVVY SNKQSLLGKL KSLATKEKED 
HFESVQLKTS RSPNI