Details for: TFE3

Gene ID: 7030

Symbol: TFE3

Ensembl ID: ENSG00000068323

Description: transcription factor binding to IGHM enhancer 3

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 106.2392
    Cell Significance Index: -16.5300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 63.6326
    Cell Significance Index: -16.1400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 40.5933
    Cell Significance Index: -19.1700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.5624
    Cell Significance Index: -15.2600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 34.6822
    Cell Significance Index: -17.8400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.0357
    Cell Significance Index: -15.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.5528
    Cell Significance Index: -16.7100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.9134
    Cell Significance Index: -18.5200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.2701
    Cell Significance Index: -16.8500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.5091
    Cell Significance Index: -7.6800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7253
    Cell Significance Index: 23.5400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.1074
    Cell Significance Index: 129.0500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.0564
    Cell Significance Index: 17.4100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7014
    Cell Significance Index: 633.3200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6859
    Cell Significance Index: 18.6700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5099
    Cell Significance Index: 9.4300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5043
    Cell Significance Index: 10.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4403
    Cell Significance Index: 12.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4339
    Cell Significance Index: 70.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4119
    Cell Significance Index: 44.8000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3479
    Cell Significance Index: 62.7100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3288
    Cell Significance Index: 17.0800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3278
    Cell Significance Index: 19.6800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.3052
    Cell Significance Index: 8.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3021
    Cell Significance Index: 37.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2949
    Cell Significance Index: 40.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2860
    Cell Significance Index: 56.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2831
    Cell Significance Index: 56.7900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2225
    Cell Significance Index: 11.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2189
    Cell Significance Index: 9.9200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1798
    Cell Significance Index: 4.8000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1748
    Cell Significance Index: 4.6800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1746
    Cell Significance Index: 4.8800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1662
    Cell Significance Index: 21.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1607
    Cell Significance Index: 30.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1352
    Cell Significance Index: 73.8200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1242
    Cell Significance Index: 54.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1100
    Cell Significance Index: 8.2000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1019
    Cell Significance Index: 36.5500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0799
    Cell Significance Index: 7.9000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0692
    Cell Significance Index: 1.7300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0635
    Cell Significance Index: 2.2300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0603
    Cell Significance Index: 2.8100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0543
    Cell Significance Index: 37.5500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0328
    Cell Significance Index: 0.5200
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.0297
    Cell Significance Index: 0.3100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0244
    Cell Significance Index: 1.2300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0234
    Cell Significance Index: 44.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0177
    Cell Significance Index: 2.2900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0116
    Cell Significance Index: 21.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0078
    Cell Significance Index: 11.9700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0077
    Cell Significance Index: 4.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0014
    Cell Significance Index: 0.1100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0041
    Cell Significance Index: -0.2000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0062
    Cell Significance Index: -4.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0073
    Cell Significance Index: -9.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0121
    Cell Significance Index: -5.4800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0145
    Cell Significance Index: -10.6500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0158
    Cell Significance Index: -11.6800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0174
    Cell Significance Index: -1.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0232
    Cell Significance Index: -3.9600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0239
    Cell Significance Index: -13.5000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0309
    Cell Significance Index: -1.9500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0327
    Cell Significance Index: -20.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0380
    Cell Significance Index: -4.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0461
    Cell Significance Index: -5.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0481
    Cell Significance Index: -6.9900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0525
    Cell Significance Index: -1.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0570
    Cell Significance Index: -3.6800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0570
    Cell Significance Index: -4.0300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0589
    Cell Significance Index: -3.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0613
    Cell Significance Index: -17.6400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0660
    Cell Significance Index: -1.3700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0838
    Cell Significance Index: -17.6600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0915
    Cell Significance Index: -0.6200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1007
    Cell Significance Index: -1.9700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1038
    Cell Significance Index: -2.2100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.1082
    Cell Significance Index: -1.1500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1425
    Cell Significance Index: -4.1900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1444
    Cell Significance Index: -15.0400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1517
    Cell Significance Index: -8.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1752
    Cell Significance Index: -10.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1888
    Cell Significance Index: -8.3500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2044
    Cell Significance Index: -16.1900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2440
    Cell Significance Index: -9.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2776
    Cell Significance Index: -5.8100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3191
    Cell Significance Index: -10.2200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3239
    Cell Significance Index: -11.8900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3257
    Cell Significance Index: -11.4100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3288
    Cell Significance Index: -5.6400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3338
    Cell Significance Index: -10.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3443
    Cell Significance Index: -11.2700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3529
    Cell Significance Index: -9.0700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.3620
    Cell Significance Index: -5.0800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3639
    Cell Significance Index: -6.0900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3661
    Cell Significance Index: -3.7900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3799
    Cell Significance Index: -2.3000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3830
    Cell Significance Index: -13.3100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3892
    Cell Significance Index: -5.7500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.3904
    Cell Significance Index: -6.7500

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:** TFE3 is a basic helix-loop-helix (bHLH) transcription factor belonging to the TEA family. It is characterized by its ability to bind to specific DNA sequences, particularly enhancers and promoters, to regulate gene expression. TFE3 is highly expressed in immune cells, such as classical monocytes and CD16-positive monocytes, where it plays a crucial role in regulating immune responses. Additionally, TFE3 is also expressed in non-immune cells, including epithelial cells, where it regulates cellular differentiation and gene expression. **Pathways and Functions:** TFE3 is involved in various signaling pathways, including: 1. **Adaptive Immune Response:** TFE3 regulates the expression of immune genes, including those involved in B cell development and activation, in response to antigen exposure. 2. **Chromatin Remodeling:** TFE3 interacts with chromatin remodeling complexes to regulate gene expression and maintain genome stability. 3. **Cellular Differentiation:** TFE3 regulates the differentiation of immune cells, such as B cells and T cells, and non-immune cells, such as epithelial cells. 4. **Gene Expression:** TFE3 regulates the expression of specific genes involved in immune responses, cellular differentiation, and cellular growth. **Clinical Significance:** TFE3 has been implicated in various diseases, including: 1. **Autoimmune Disorders:** TFE3 has been shown to play a role in the development of autoimmune diseases, such as rheumatoid arthritis and lupus. 2. **Cancer:** TFE3 has been identified as a potential oncogene in certain types of cancer, including lung, breast, and colon cancer. 3. **Neurological Disorders:** TFE3 has been implicated in the pathogenesis of neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, TFE3 is a complex transcription factor that plays a multifaceted role in regulating immune responses, cellular differentiation, and gene expression. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms and clinical significance of TFE3. **Future Directions:** 1. **Investigating TFE3's role in disease:** Further studies are needed to elucidate the mechanisms by which TFE3 contributes to disease development and progression. 2. **Developing therapeutic strategies:** Targeting TFE3 or its regulatory pathways may provide novel therapeutic opportunities for treating autoimmune and cancer diseases. 3. **Understanding TFE3's role in cellular differentiation:** Elucidating the mechanisms by which TFE3 regulates cellular differentiation may provide insights into the development of new cell-based therapies.

Genular Protein ID: 485775736

Symbol: TFE3_HUMAN

Name: Class E basic helix-loop-helix protein 33

UniProtKB Accession Codes:

P19532 A8MZL6 Q5JU74 Q92757 Q92758 Q99964

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 4 ExpressionAtlas 1 GO 23 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9393982

Title: Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma.

PubMed ID: 9393982

DOI: 10.1038/sj.onc.1201394

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 8986805

Title: Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.

PubMed ID: 8986805

DOI: 10.1073/pnas.93.26.15294

PubMed ID: 8872474

Title: The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene.

PubMed ID: 8872474

DOI: 10.1093/hmg/5.9.1333

PubMed ID: 2338243

Title: TFE3: a helix-loop-helix protein that activates transcription through the immunoglobulin enhancer muE3 motif.

PubMed ID: 2338243

DOI: 10.1101/gad.4.2.167

PubMed ID: 1748288

Title: TFEB has DNA-binding and oligomerization properties of a unique helix-loop-helix/leucine-zipper family.

PubMed ID: 1748288

DOI: 10.1101/gad.5.12a.2342

PubMed ID: 11358836

Title: Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas.

PubMed ID: 11358836

PubMed ID: 11244503

Title: The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25.

PubMed ID: 11244503

DOI: 10.1038/sj.onc.1204074

PubMed ID: 15507434

Title: Sumoylation of MITF and its related family members TFE3 and TFEB.

PubMed ID: 15507434

DOI: 10.1074/jbc.m411757200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21209915

Title: Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization.

PubMed ID: 21209915

DOI: 10.1371/journal.pone.0015793

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22692423

Title: The transcription factor TFEB links mTORC1 signaling to transcriptional control of lysosome homeostasis.

PubMed ID: 22692423

DOI: 10.1126/scisignal.2002790

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24448649

Title: The nutrient-responsive transcription factor TFE3 promotes autophagy, lysosomal biogenesis, and clearance of cellular debris.

PubMed ID: 24448649

DOI: 10.1126/scisignal.2004754

PubMed ID: 29146937

Title: TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes.

PubMed ID: 29146937

DOI: 10.1038/s41467-017-01871-z

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 30733432

Title: Folliculin regulates mTORC1/2 and WNT pathways in early human pluripotency.

PubMed ID: 30733432

DOI: 10.1038/s41467-018-08020-0

PubMed ID: 31672913

Title: Structural mechanism of a Rag GTPase activation checkpoint by the lysosomal folliculin complex.

PubMed ID: 31672913

DOI: 10.1126/science.aax0364

PubMed ID: 36608670

Title: A central role for regulated protein stability in the control of TFE3 and MITF by nutrients.

PubMed ID: 36608670

DOI: 10.1016/j.molcel.2022.12.013

PubMed ID: 37079666

Title: Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1.

PubMed ID: 37079666

DOI: 10.1126/science.abj5559

PubMed ID: 30595499

Title: Lysosomal signaling licenses embryonic stem cell differentiation via inactivation of Tfe3.

PubMed ID: 30595499

DOI: 10.1016/j.stem.2018.11.021

PubMed ID: 31833172

Title: TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.

PubMed ID: 31833172

DOI: 10.1002/ajmg.a.61437

PubMed ID: 32409512

Title: De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

PubMed ID: 32409512

DOI: 10.1136/jmedgenet-2019-106508

Sequence Information:

  • Length: 575
  • Mass: 61521
  • Checksum: EF1F11AB624C6BE1
  • Sequence:
    • MSHAAEPARD GVEASAEGPR AVFVLLEERR PADSAQLLSL NSLLPESGIV ADIELENVLD 
PDSFYELKSQ PLPLRSSLPI SLQATPATPA TLSASSSAGG SRTPAMSSSS SSRVLLRQQL 
MRAQAQEQER RERREQAAAA PFPSPAPASP AISVVGVSAG GHTLSRPPPA QVPREVLKVQ 
THLENPTRYH LQQARRQQVK QYLSTTLGPK LASQALTPPP GPASAQPLPA PEAAHTTGPT 
GSAPNSPMAL LTIGSSSEKE IDDVIDEIIS LESSYNDEML SYLPGGTTGL QLPSTLPVSG 
NLLDVYSSQG VATPAITVSN SCPAELPNIK REISETEAKA LLKERQKKDN HNLIERRRRF 
NINDRIKELG TLIPKSSDPE MRWNKGTILK ASVDYIRKLQ KEQQRSKDLE SRQRSLEQAN 
RSLQLRIQEL ELQAQIHGLP VPPTPGLLSL ATTSASDSLK PEQLDIEEEG RPGAATFHVG 
GGPAQNAPHQ QPPAPPSDAL LDLHFPSDHL GDLGDPFHLG LEDILMEEEE GVVGGLSGGA 
LSPLRAASDP LLSSVSPAVS KASSRRSSFS MEEES

Genular Protein ID: 1695422076

Symbol: B4DIA5_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DIA5

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 470
  • Mass: 50630
  • Checksum: 751F63788383E415
  • Sequence:
    • MSSSSSSRVL LRQQLMRAQA QEQERRERRE QAAAAPFPSP APASPAISVV GVSAGGHTLS 
RPPPAQVPRE VLKVQTHLEN PTRYHLQQAR RQQVKQYLST TLGPKLASQA LTPPPGPASA 
QPLPAPEAAH TTGPTGSAPN SPMALLTIGS SSEKEIDDVI DEIISLESSY NDEMLSYLPG 
GTTGLQLPST LPVSGNLLDV YSSQGVATPA ITVSNSCPAE LPNIKREISE TEAKALLKER 
QKKDNHNLIE RRRRFNINDR IKELGTLIPK SSDPEMRWNK GTILKASVDY IRKLQKEQQR 
SKDLESRQRS LEQANRSLQL RIQELELQAQ IHGLPVPPTP GLLSLATTSA SDSLKPEQLD 
IEEEGRPGAA TFHVGGGPAQ NAPHQQPPAP PSDALLDLHF PSDHLGDLGD PFHLGLEDIL 
MEEEEGVVGG LSGGALSPLR AASDPLLSSV SPAVSKASSR RSSFSMEEES

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.