Details for: SH3GL2

Gene ID: 6456

Symbol: SH3GL2

Ensembl ID: ENSG00000107295

Description: SH3 domain containing GRB2 like 2, endophilin A1

Associated with

Cells (max top 100)

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

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 99.3213
    Cell Significance Index: -40.3500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 9.8631
    Cell Significance Index: 169.0300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 4.1804
    Cell Significance Index: 119.3000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.6861
    Cell Significance Index: 45.7200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.4626
    Cell Significance Index: 131.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.2619
    Cell Significance Index: 144.2800
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 3.1582
    Cell Significance Index: 42.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 3.1098
    Cell Significance Index: 623.8200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 3.0413
    Cell Significance Index: 204.5000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 2.7076
    Cell Significance Index: 20.8700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.8429
    Cell Significance Index: 112.9900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.6677
    Cell Significance Index: 87.5600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.3342
    Cell Significance Index: 922.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.1335
    Cell Significance Index: 58.8800
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.9888
    Cell Significance Index: 10.9100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9666
    Cell Significance Index: 60.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.9390
    Cell Significance Index: 20.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7462
    Cell Significance Index: 267.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.5157
    Cell Significance Index: 74.9600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4300
    Cell Significance Index: 26.4300
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.3633
    Cell Significance Index: 3.2000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3222
    Cell Significance Index: 61.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3132
    Cell Significance Index: 24.0400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3016
    Cell Significance Index: 272.3200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2493
    Cell Significance Index: 24.6700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2260
    Cell Significance Index: 5.4200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.1677
    Cell Significance Index: 5.4900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.1454
    Cell Significance Index: 4.6300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.1355
    Cell Significance Index: 1.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1320
    Cell Significance Index: 21.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0922
    Cell Significance Index: 4.1800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0798
    Cell Significance Index: 9.8100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0628
    Cell Significance Index: 118.2700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0570
    Cell Significance Index: 0.6800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0536
    Cell Significance Index: 0.5100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0530
    Cell Significance Index: 1.1000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.0470
    Cell Significance Index: 0.5700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.0101
    Cell Significance Index: 0.1100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0069
    Cell Significance Index: 1.2400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0041
    Cell Significance Index: 3.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0062
    Cell Significance Index: -3.8800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0062
    Cell Significance Index: -11.3800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0084
    Cell Significance Index: -13.0000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0109
    Cell Significance Index: -6.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0119
    Cell Significance Index: -16.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0145
    Cell Significance Index: -0.5100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0154
    Cell Significance Index: -1.9800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0165
    Cell Significance Index: -7.5000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0424
    Cell Significance Index: -0.9000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0436
    Cell Significance Index: -1.2600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0508
    Cell Significance Index: -1.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0548
    Cell Significance Index: -34.8300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0552
    Cell Significance Index: -11.6200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0568
    Cell Significance Index: -41.6800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0601
    Cell Significance Index: -45.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0682
    Cell Significance Index: -37.2600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0912
    Cell Significance Index: -15.5700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1225
    Cell Significance Index: -35.2600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1349
    Cell Significance Index: -5.8700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1816
    Cell Significance Index: -3.5900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1822
    Cell Significance Index: -2.3000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1832
    Cell Significance Index: -36.3600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1849
    Cell Significance Index: -11.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2060
    Cell Significance Index: -21.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2288
    Cell Significance Index: -23.3700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2479
    Cell Significance Index: -17.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2779
    Cell Significance Index: -38.1700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2879
    Cell Significance Index: -33.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2922
    Cell Significance Index: -9.3600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3063
    Cell Significance Index: -7.6400
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: -0.3142
    Cell Significance Index: -2.4100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3156
    Cell Significance Index: -36.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3309
    Cell Significance Index: -42.7500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3379
    Cell Significance Index: -38.5700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3583
    Cell Significance Index: -4.1800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3586
    Cell Significance Index: -5.1400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3610
    Cell Significance Index: -7.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4021
    Cell Significance Index: -22.5700
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4125
    Cell Significance Index: -3.9100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4712
    Cell Significance Index: -9.4600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4791
    Cell Significance Index: -13.3900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5087
    Cell Significance Index: -17.8200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.5101
    Cell Significance Index: -12.3600
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.5116
    Cell Significance Index: -5.7800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5683
    Cell Significance Index: -45.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5839
    Cell Significance Index: -43.5200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6633
    Cell Significance Index: -14.3300
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.6645
    Cell Significance Index: -8.2600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.7080
    Cell Significance Index: -14.7800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.7548
    Cell Significance Index: -35.1900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7599
    Cell Significance Index: -39.5800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7773
    Cell Significance Index: -19.9800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8328
    Cell Significance Index: -30.5700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.8378
    Cell Significance Index: -12.6300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.8861
    Cell Significance Index: -8.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.9026
    Cell Significance Index: -42.4200
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.9917
    Cell Significance Index: -11.8600
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.9945
    Cell Significance Index: -10.3600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -1.0001
    Cell Significance Index: -12.9700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.0123
    Cell Significance Index: -21.5600

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.

Other Information

**Key Characteristics:** 1. **SH3 domain**: SH3GL2 contains a unique SH3 domain, which is involved in protein-protein interactions and plays a crucial role in regulating cell signaling. 2. **Sequence similarity to GRB2**: SH3GL2 shares a high degree of sequence similarity with GRB2, a key component of the Ras/Raf/MAPK signaling pathway. 3. **Expression in immune cells**: SH3GL2 is significantly expressed in immune cells, including macroglial cells, neurons, and immune cells, suggesting its involvement in immune response and cellular signaling. 4. **Involvement in axon guidance**: SH3GL2 has been implicated in axon guidance and neuronal development, highlighting its role in the development and maintenance of the nervous system. **Pathways and Functions:** 1. **Adaptive immune system**: SH3GL2 has been found to be involved in the regulation of immune response, including the activation of immune cells and the modulation of cytokine production. 2. **Axon guidance**: SH3GL2 plays a crucial role in axon guidance and neuronal development, influencing the formation and maintenance of axonal projections. 3. **Cellular response to brain-derived neurotrophic factor (BDNF) stimulus**: SH3GL2 has been implicated in the regulation of BDNF signaling, which is essential for neuronal survival and development. 4. **Cargo recognition for clathrin-mediated endocytosis**: SH3GL2 has been shown to interact with clathrin, a protein involved in the formation of clathrin-coated vesicles, highlighting its role in endocytosis and cellular trafficking. 5. **Regulation of gene expression**: SH3GL2 has been found to regulate gene expression, including the modulation of transcription factors and the regulation of protein phosphorylation. **Clinical Significance:** 1. **Neurological disorders**: SH3GL2 has been implicated in the pathogenesis of various neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). 2. **Immune-mediated diseases**: SH3GL2 has been found to play a role in immune-mediated diseases, including multiple sclerosis and rheumatoid arthritis. 3. **Cancer**: SH3GL2 has been implicated in the development and progression of various cancers, including breast cancer and lung cancer. 4. **Neurodevelopmental disorders**: SH3GL2 has been found to be involved in neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. In conclusion, SH3GL2 is a multifaceted gene that plays a crucial role in various cellular processes, including immune response, axon guidance, and synaptic function. Its involvement in neurological disorders, immune-mediated diseases, and cancer highlights its potential as a therapeutic target for the treatment of these conditions. Further research is needed to fully elucidate the role of SH3GL2 in human disease and to explore its potential as a therapeutic agent.

Genular Protein ID: 3387969660

Symbol: SH3G2_HUMAN

Name: Endophilin-A1

UniProtKB Accession Codes:

Q99962 B2R618 Q9NQK5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 1 EvolutionaryTrace 1 GO 21 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 10 RefSeq 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9169142

Title: A novel SH3-containing human gene family preferentially expressed in the central nervous system.

PubMed ID: 9169142

DOI: 10.1006/geno.1997.4645

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 10531379

Title: Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1.

PubMed ID: 10531379

DOI: 10.1074/jbc.274.44.31693

PubMed ID: 10542231

Title: The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.

PubMed ID: 10542231

DOI: 10.1074/jbc.274.45.32001

PubMed ID: 17350572

Title: Structural and biochemical studies of ALIX/AIP1 and its role in retrovirus budding.

PubMed ID: 17350572

DOI: 10.1016/j.cell.2007.01.035

PubMed ID: 18602463

Title: Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking.

PubMed ID: 18602463

DOI: 10.1016/j.cellsig.2008.05.018

PubMed ID: 23285027

Title: Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis.

PubMed ID: 23285027

DOI: 10.1371/journal.pone.0052401

PubMed ID: 16763557

Title: Endophilin BAR domain drives membrane curvature by two newly identified structure-based mechanisms.

PubMed ID: 16763557

DOI: 10.1038/sj.emboj.7601176

PubMed ID: 28891236

Title: A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

PubMed ID: 28891236

DOI: 10.1002/humu.23336

Sequence Information:

  • Length: 352
  • Mass: 39962
  • Checksum: F3AE2353E1EB7CF3
  • Sequence:
    • MSVAGLKKQF HKATQKVSEK VGGAEGTKLD DDFKEMERKV DVTSRAVMEI MTKTIEYLQP 
NPASRAKLSM INTMSKIRGQ EKGPGYPQAE ALLAEAMLKF GRELGDDCNF GPALGEVGEA 
MRELSEVKDS LDIEVKQNFI DPLQNLHDKD LREIQHHLKK LEGRRLDFDY KKKRQGKIPD 
EELRQALEKF DESKEIAESS MFNLLEMDIE QVSQLSALVQ AQLEYHKQAV QILQQVTVRL 
EERIRQASSQ PRREYQPKPR MSLEFPTGDS TQPNGGLSHT GTPKPSGVQM DQPCCRALYD 
FEPENEGELG FKEGDIITLT NQIDENWYEG MLHGHSGFFP INYVEILVAL PH

Genular Protein ID: 2418256242

Symbol: Q7Z376_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q7Z376

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 2 InterPro 6 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 4 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 1 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 290
  • Mass: 33009
  • Checksum: C3F0943D9614F19A
  • Sequence:
    • ASRAKLSMIN TMSKIRGQEK GPGYPQAEAL LAEAMLKFGR ELGDDCNFGP ALGEVGEAMR 
ELSEVKDSLD IEVKQNFIDP LQNLHDKDLR EIQHHLKKLE GRRLDFDYKK KRQGKIPDEE 
LRQALEKFDE SKEIAESSMF NLLEMDIEQV SQLSALVQAQ LEYHKQAVQI LQQVTVRLEE 
RIRQASSQPR REYQPKPRMS LEFPTGDSTQ PNGGLSHTGT PKPSGVQMDQ PCCRALYDFE 
PENEGELGFK EGDIITLTNQ IDENWYEGML HGHSGFFPIN YVEILVALPH

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.