Details for: EPM2AIP1

Gene ID: 9852

Symbol: EPM2AIP1

Ensembl ID: ENSG00000178567

Description: EPM2A interacting protein 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.6
    Marker Score: 35,732
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.45
    Marker Score: 89,446
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.45
    Marker Score: 5,618
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.45
    Marker Score: 53,502
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.42
    Marker Score: 54,112
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.42
    Marker Score: 2,890
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.42
    Marker Score: 21,263
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.42
    Marker Score: 6,557
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.41
    Marker Score: 13,434
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.4
    Marker Score: 27,902
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.4
    Marker Score: 12,034
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.37
    Marker Score: 12,848
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.36
    Marker Score: 14,040
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.34
    Marker Score: 2,073
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.34
    Marker Score: 4,970
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.3
    Marker Score: 1,459
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.28
    Marker Score: 5,219
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.27
    Marker Score: 5,272
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.24
    Marker Score: 9,515
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.24
    Marker Score: 2,592
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.23
    Marker Score: 2,954
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.22
    Marker Score: 12,377
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.21
    Marker Score: 5,058
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.21
    Marker Score: 1,463
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.21
    Marker Score: 706
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.19
    Marker Score: 2,796
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.17
    Marker Score: 2,573
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.17
    Marker Score: 782
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.16
    Marker Score: 438
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.16
    Marker Score: 1,092
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.12
    Marker Score: 3,013
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.12
    Marker Score: 1,189
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.12
    Marker Score: 450
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.11
    Marker Score: 23,792
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.11
    Marker Score: 4,649
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.11
    Marker Score: 1,184
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.11
    Marker Score: 330
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.08
    Marker Score: 1,839
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.07
    Marker Score: 559
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.07
    Marker Score: 250
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.05
    Marker Score: 4,078
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.05
    Marker Score: 1,113
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.02
    Marker Score: 1,084
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.02
    Marker Score: 6,045
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.02
    Marker Score: 297
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.01
    Marker Score: 574
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.01
    Marker Score: 1,157
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 1.01
    Marker Score: 502
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1
    Marker Score: 231
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1
    Marker Score: 6,524
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,609
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,834
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.99
    Marker Score: 1,524
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.99
    Marker Score: 402
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.98
    Marker Score: 508
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.98
    Marker Score: 330
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.98
    Marker Score: 12,948
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.98
    Marker Score: 1,049
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,377
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.97
    Marker Score: 1,048
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.97
    Marker Score: 535
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.96
    Marker Score: 231
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.96
    Marker Score: 246
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.96
    Marker Score: 9,684
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.96
    Marker Score: 32,738
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.96
    Marker Score: 301
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.96
    Marker Score: 1,350
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.96
    Marker Score: 1,161
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.96
    Marker Score: 2,415
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.95
    Marker Score: 215
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.95
    Marker Score: 984
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.95
    Marker Score: 716
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.94
    Marker Score: 549
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.94
    Marker Score: 864
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,384
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.93
    Marker Score: 348
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.93
    Marker Score: 875
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.92
    Marker Score: 1,194
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.92
    Marker Score: 800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 474
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 430
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9
    Marker Score: 945
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.9
    Marker Score: 196
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.89
    Marker Score: 181
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.89
    Marker Score: 762
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.89
    Marker Score: 2,675
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.89
    Marker Score: 2,099
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.88
    Marker Score: 307
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.88
    Marker Score: 172
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5,006
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.87
    Marker Score: 201
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,292
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.87
    Marker Score: 1,546
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.87
    Marker Score: 304
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.87
    Marker Score: 939
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.86
    Marker Score: 267
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.86
    Marker Score: 371
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.86
    Marker Score: 195
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.86
    Marker Score: 2,410
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.86
    Marker Score: 348

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Cellular localization:** EPM2AIP1 is primarily localized to the cytoplasmic side of the endoplasmic reticulum membrane and the nucleus. 2. **Protein binding:** EPM2AIP1 interacts with various proteins, including EPM2A, which suggests a potential role in protein complex formation. 3. **Glycogen biosynthesis:** EPM2AIP1 is involved in the positive regulation of glycogen biosynthetic process, indicating its role in glucose metabolism. 4. **Insulin response:** EPM2AIP1 is responsive to insulin, suggesting its involvement in glucose homeostasis. 5. **Neuronal expression:** EPM2AIP1 is highly expressed in various neuronal cell types, including interneurons and glutamatergic neurons. **Pathways and Functions:** 1. **Glycogen biosynthetic process:** EPM2AIP1 is involved in the regulation of glycogen synthesis, which is crucial for glucose metabolism and energy storage. 2. **Protein binding:** EPM2AIP1 interacts with various proteins, including EPM2A, which suggests a potential role in protein complex formation and signaling. 3. **Insulin response:** EPM2AIP1 is responsive to insulin, which suggests its involvement in glucose homeostasis and insulin signaling. 4. **Cytoplasmic side of endoplasmic reticulum membrane:** EPM2AIP1 is localized to the cytoplasmic side of the endoplasmic reticulum membrane, which suggests its role in membrane-bound processes. **Clinical Significance:** The clinical significance of EPM2AIP1 remains to be determined. However, its involvement in glycogen metabolism and insulin response suggests potential implications for metabolic disorders, such as type 2 diabetes and glycogen storage diseases. Additionally, the expression of EPM2AIP1 in various neuronal cell types suggests potential implications for neurological diseases, such as Alzheimer's disease and Parkinson's disease. Further research is needed to fully elucidate the role of EPM2AIP1 in human disease and to explore its potential as a therapeutic target. **Conclusion:** EPM2AIP1 is a novel gene that plays a crucial role in glycogen metabolism and neuronal function. Its involvement in glucose metabolism and insulin response suggests potential implications for metabolic disorders and neurological diseases. Further research is needed to fully elucidate the role of EPM2AIP1 in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 2645555622

Symbol: EPMIP_HUMAN

Name: EPM2A-interacting protein 1

UniProtKB Accession Codes:

Q7L775 O94866 Q9H3L3

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 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 6 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12782127

Title: Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product.

PubMed ID: 12782127

DOI: 10.1016/s0888-7543(03)00094-6

PubMed ID: 9872452

Title: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 9872452

DOI: 10.1093/dnares/5.5.277

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: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

Sequence Information:

  • Length: 607
  • Mass: 70370
  • Checksum: 417936544D570CAE
  • Sequence:
    • MWMTPKRSKM EVDEALVFRP EWTQRYLVVE PPEGDGALCL VCRRLIVATR ERDVRRHYEA 
EHEYYERYVA DGERAALVER LRQGDLPVAS FTPEERAARA GLGLCRLLAL KGRGWGEGDF 
VYQCMEVLLR EVLPEHVSVL QGVDLSPDIT RQRILSIDRN LRNQLFNRAR DFKAYSLALD 
DQAFVAYENY LLVFIRGVGP ELEVQEDLLT IINLTHHFSV GALMSAILES LQTAGLSLQR 
MVGLTTTHTL RMIGENSGLV SYMREKAVSP NCWNVIHYSG FLHLELLSSY DVDVNQIINT 
ISEWIVLIKT RGVRRPEFQT LLTESESEHG ERVNGRCLNN WLRRGKTLKL IFSLRKEMEA 
FLVSVGATTV HFSDKQWLCD FGFLVDIMEH LRELSEELRV SKVFAAAAFD HICTFEVKLN 
LFQRHIEEKN LTDFPALREV VDELKQQNKE DEKIFDPDRY QMVICRLQKE FERHFKDLRF 
IKKDLELFSN PFNFKPEYAP ISVRVELTKL QANTNLWNEY RIKDLGQFYA GLSAESYPII 
KGVACKVASL FDSNQICEKA FSYLTRNQHT LSQPLTDEHL QALFRVATTE MEPGWDDLVR 
ERNESNP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.