Details for: ITGB4

Gene ID: 3691

Symbol: ITGB4

Ensembl ID: ENSG00000132470

Description: integrin subunit beta 4

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: 148.0598
    Cell Significance Index: -23.0300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 91.6247
    Cell Significance Index: -23.2400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.1465
    Cell Significance Index: -18.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.6949
    Cell Significance Index: -23.0500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.1419
    Cell Significance Index: -24.4900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 7.4430
    Cell Significance Index: 16.7800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.9122
    Cell Significance Index: -23.3300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 5.4699
    Cell Significance Index: 74.6300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.3048
    Cell Significance Index: -11.6100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 3.3393
    Cell Significance Index: 635.4900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.7103
    Cell Significance Index: 30.7900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.5797
    Cell Significance Index: 134.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.5336
    Cell Significance Index: 67.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.1387
    Cell Significance Index: 262.9800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.8579
    Cell Significance Index: 202.0900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.7591
    Cell Significance Index: 49.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.7088
    Cell Significance Index: 49.2400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.6303
    Cell Significance Index: 35.3200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.5847
    Cell Significance Index: 43.1400
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.5727
    Cell Significance Index: 13.9600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.5599
    Cell Significance Index: 281.2100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.4809
    Cell Significance Index: 22.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3043
    Cell Significance Index: 59.1200
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 1.2114
    Cell Significance Index: 16.9400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.0213
    Cell Significance Index: 47.6200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9468
    Cell Significance Index: 153.9800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.8751
    Cell Significance Index: 386.8900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.8423
    Cell Significance Index: 19.4600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.8264
    Cell Significance Index: 7.6100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.6598
    Cell Significance Index: 5.6700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5462
    Cell Significance Index: 38.6300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4959
    Cell Significance Index: 270.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3527
    Cell Significance Index: 12.4000
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.3446
    Cell Significance Index: 4.9100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2838
    Cell Significance Index: 13.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2719
    Cell Significance Index: 5.7900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2208
    Cell Significance Index: 21.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1915
    Cell Significance Index: 121.6400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1397
    Cell Significance Index: 18.0500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1336
    Cell Significance Index: 3.3400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1196
    Cell Significance Index: 225.1600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0984
    Cell Significance Index: 68.0700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0690
    Cell Significance Index: 1.4800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0424
    Cell Significance Index: 26.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0217
    Cell Significance Index: 40.0900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0206
    Cell Significance Index: 18.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0124
    Cell Significance Index: 19.0300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0040
    Cell Significance Index: 5.4700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0052
    Cell Significance Index: -0.8800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0106
    Cell Significance Index: -7.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0162
    Cell Significance Index: -9.1300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0211
    Cell Significance Index: -4.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0232
    Cell Significance Index: -4.8800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0264
    Cell Significance Index: -19.3700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0284
    Cell Significance Index: -21.4700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0356
    Cell Significance Index: -12.7800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0440
    Cell Significance Index: -19.9600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0513
    Cell Significance Index: -7.4600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0572
    Cell Significance Index: -11.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0740
    Cell Significance Index: -9.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0745
    Cell Significance Index: -21.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0783
    Cell Significance Index: -8.9700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0837
    Cell Significance Index: -9.7600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0980
    Cell Significance Index: -11.1900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1125
    Cell Significance Index: -11.5000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1236
    Cell Significance Index: -16.9700
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.1484
    Cell Significance Index: -1.7300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1971
    Cell Significance Index: -23.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2007
    Cell Significance Index: -14.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2047
    Cell Significance Index: -21.3100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2071
    Cell Significance Index: -3.5800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2153
    Cell Significance Index: -10.8800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2365
    Cell Significance Index: -4.9100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2591
    Cell Significance Index: -20.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2700
    Cell Significance Index: -16.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2769
    Cell Significance Index: -14.4300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2975
    Cell Significance Index: -3.0800
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.3132
    Cell Significance Index: -3.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3325
    Cell Significance Index: -25.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3435
    Cell Significance Index: -23.1000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3489
    Cell Significance Index: -22.5100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3489
    Cell Significance Index: -6.1700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3851
    Cell Significance Index: -12.3400
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: -0.3876
    Cell Significance Index: -3.2800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3960
    Cell Significance Index: -24.9600
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.3980
    Cell Significance Index: -3.7800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4119
    Cell Significance Index: -25.3200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4352
    Cell Significance Index: -17.8300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4476
    Cell Significance Index: -16.4300
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.4479
    Cell Significance Index: -4.6200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4616
    Cell Significance Index: -25.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4734
    Cell Significance Index: -13.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4988
    Cell Significance Index: -26.1900
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.5129
    Cell Significance Index: -5.8700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.5130
    Cell Significance Index: -7.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5480
    Cell Significance Index: -24.2400
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.5520
    Cell Significance Index: -3.4300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5740
    Cell Significance Index: -20.1100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5873
    Cell Significance Index: -20.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6407
    Cell Significance Index: -24.2600

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** ITGB4 is a beta subunit of integrins, which are heterodimeric receptors composed of alpha and beta subunits. The ITGB4 gene encodes a 58-kDa protein that contains four immunoglobulin-like domains and a cytoplasmic tail. This subunit is specifically associated with the alpha 4 subunit (ITGA4) to form the alpha 4 beta 4 integrin (α4β4), which is a key receptor for fibronectin and laminin, two major components of the extracellular matrix (ECM). **Pathways and Functions** ITGB4 plays a crucial role in various cellular processes, including: 1. **Cell adhesion**: ITGB4 is involved in the formation of cell-cell and cell-ECM adhesions, which are essential for tissue structure and function. 2. **Cell migration**: ITGB4 is a key component of the α4β4 integrin, which mediates the migration of cells, including epithelial, neural, and trophoblastic cells. 3. **Cell signaling**: ITGB4 is involved in the regulation of cell signaling pathways, including the integrin-mediated signaling pathway, which regulates cell growth, differentiation, and survival. 4. **ECM organization**: ITGB4 is involved in the formation and organization of the ECM, which is essential for tissue structure and function. **Clinical Significance** Dysregulation of ITGB4 has been implicated in various diseases, including: 1. **Cancer**: Altered expression of ITGB4 has been observed in various cancers, including lung, breast, and colon cancer, and is associated with tumor progression and metastasis. 2. **Neurological disorders**: ITGB4 has been implicated in neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis, where it is involved in the regulation of cell migration and adhesion. 3. **Cardiovascular disease**: ITGB4 is involved in the regulation of vascular cell adhesion and migration, and its dysregulation has been implicated in cardiovascular disease. In summary, ITGB4 is a critical component of integrins, which play a pivotal role in cell adhesion, migration, and signaling. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining tissue homeostasis and preventing disease.

Genular Protein ID: 3675248007

Symbol: ITB4_HUMAN

Name: Integrin beta-4

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2311577

Title: Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells.

PubMed ID: 2311577

DOI: 10.1002/j.1460-2075.1990.tb08170.x

PubMed ID: 2311578

Title: Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain.

PubMed ID: 2311578

DOI: 10.1002/j.1460-2075.1990.tb08171.x

PubMed ID: 1976638

Title: Epithelial integrin alpha 6 beta 4: complete primary structure of alpha 6 and variant forms of beta 4.

PubMed ID: 1976638

DOI: 10.1083/jcb.111.4.1593

PubMed ID: 9194858

Title: Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.

PubMed ID: 9194858

PubMed ID: 9166594

Title: Genomic organization of the human integrin beta 4 gene.

PubMed ID: 9166594

DOI: 10.1007/s003359900467

PubMed ID: 9207246

Title: The unique cytoplasmic domain of the human integrin variant beta4E is produced by partial retention of intronic sequences.

PubMed ID: 9207246

DOI: 10.1006/bbrc.1997.6892

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 2542022

Title: A novel integrin (alpha E beta 4) from human epithelial cells suggests a fourth family of integrin adhesion receptors.

PubMed ID: 2542022

DOI: 10.1002/j.1460-2075.1989.tb03425.x

PubMed ID: 7982032

Title: A novel structural variant of the human beta 4 integrin cDNA.

PubMed ID: 7982032

DOI: 10.3109/15419069409014197

PubMed ID: 10637308

Title: The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome.

PubMed ID: 10637308

DOI: 10.1091/mbc.11.1.277

PubMed ID: 11375975

Title: The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression.

PubMed ID: 11375975

DOI: 10.1074/jbc.m011005200

PubMed ID: 12485428

Title: Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

PubMed ID: 12485428

DOI: 10.1046/j.1523-1747.2002.19609.x

PubMed ID: 12482924

Title: Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.

PubMed ID: 12482924

DOI: 10.1242/jcs.00241

PubMed ID: 15611341

Title: Palmitoylation supports assembly and function of integrin-tetraspanin complexes.

PubMed ID: 15611341

DOI: 10.1083/jcb.200404100

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

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

PubMed ID: 19403692

Title: BPAG1e maintains keratinocyte polarity through beta4 integrin-mediated modulation of Rac1 and cofilin activities.

PubMed ID: 19403692

DOI: 10.1091/mbc.e09-01-0051

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 20682778

Title: Direct binding of the EGF-like domain of neuregulin-1 to integrins ({alpha}v{beta}3 and {alpha}6{beta}4) is involved in neuregulin-1/ErbB signaling.

PubMed ID: 20682778

DOI: 10.1074/jbc.m110.113878

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22314500

Title: Palmitoylation by DHHC3 is critical for the function, expression, and stability of integrin alpha6beta4.

PubMed ID: 22314500

DOI: 10.1007/s00018-012-0924-6

PubMed ID: 22351760

Title: Cross-talk between integrin alpha6beta4 and insulin-like growth factor-1 receptor (IGF1R) through direct alpha6beta4 binding to IGF1 and subsequent alpha6beta4-IGF1-IGF1R ternary complex formation in anchorage-independent conditions.

PubMed ID: 22351760

DOI: 10.1074/jbc.m111.304170

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28873464

Title: Direct integrin binding to insulin-like growth factor-2 through the C-domain is required for insulin-like growth factor receptor type 1 (IGF1R) signaling.

PubMed ID: 28873464

DOI: 10.1371/journal.pone.0184285

PubMed ID: 30361615

Title: Deletion of TMEM268 inhibits growth of gastric cancer cells by downregulating the ITGB4 signaling pathway.

PubMed ID: 30361615

DOI: 10.1038/s41418-018-0223-3

PubMed ID: 10428948

Title: Crystal structure of a tandem pair of fibronectin type III domains from the cytoplasmic tail of integrin alpha6beta4.

PubMed ID: 10428948

DOI: 10.1093/emboj/18.15.4087

PubMed ID: 9792864

Title: Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

PubMed ID: 9792864

DOI: 10.1086/302116

PubMed ID: 9422533

Title: Epidermolysis bullosa with pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4).

PubMed ID: 9422533

PubMed ID: 9546354

Title: Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.

PubMed ID: 9546354

PubMed ID: 9892956

Title: Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

PubMed ID: 9892956

DOI: 10.1046/j.1365-2133.1998.02515.x

PubMed ID: 10873890

Title: Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

PubMed ID: 10873890

DOI: 10.1053/ajkd.2000.8293

PubMed ID: 10792571

Title: A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

PubMed ID: 10792571

DOI: 10.1046/j.1523-1747.2000.00960-3.x

PubMed ID: 11251584

Title: Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

PubMed ID: 11251584

DOI: 10.1046/j.1365-2133.2001.04038.x

PubMed ID: 11289717

Title: Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population.

PubMed ID: 11289717

DOI: 10.1007/s100380170122

PubMed ID: 11328943

Title: Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

PubMed ID: 11328943

DOI: 10.1203/00006450-200105000-00003

Sequence Information:

  • Length: 1822
  • Mass: 202167
  • Checksum: 09710FFBBD719469
  • Sequence:
  • MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY CTDEMFRDRR 
    CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ MSPQGLRVRL RPGEERHFEL 
    EVFEPLESPV DLYILMDFSN SMSDDLDNLK KMGQNLARVL SQLTSDYTIG FGKFVDKVSV 
    PQTDMRPEKL KEPWPNSDPP FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL 
    QTAVCTRDIG WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 
    TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE DSSNIVELLE 
    EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI RRGEVGIYQV QLRALEHVDG 
    THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI ICDVCTCELQ KEVRSARCSF NGDFVCGQCV 
    CSEGWSGQTC NCSTGSLSDI QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN 
    FQCPRTSGFL CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 
    CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE CNFKVKMVDE 
    LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV HKKKDCPPGS FWWLIPLLLL 
    LLPLLALLLL LCWKYCACCK ACLALLPCCN RGHMVGFKED HYMLRENLMA SDHLDTPMLR 
    SGNLKGRDVV RWKVTNNMQR PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC 
    AQLRQEVEEN LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK 
    LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFQEGVE LVDVRVPLFI RPEDDDEKQL 
    LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS VSRGDQVARI PVIRRVLDGG 
    KSQVSYRTQD GTAQGNRDYI PVEGELLFQP GEAWKELQVK LLELQEVDSL LRGRQVRRFH 
    VQLSNPKFGA HLGQPHSTTI IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS 
    RKIHFNWLPP SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG 
    AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI TAYEVCYGLV 
    NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA RNGAGWGPER EAIINLATQP 
    KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS DDVLRSPSGS QRPSVSDDTG CGWKFEPLLG 
    EELDLRRVTW RLPPELIPRL SASSGRSSDA EAPHGPPDDG GAGGKGGSLP RSATPGPPGE 
    HLVNGRMDFA FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH 
    SHSTTLPRDY STLTSVSSHD SRLTAGVPDT PTRLVFSALG PTSLRVSWQE PRCERPLQGY 
    SVEYQLLNGG ELHRLNIPNP AQTSVVVEDL LPNHSYVFRV RAQSQEGWGR EREGVITIES 
    QVHPQSPLCP LPGSAFTLST PSAPGPLVFT ALSPDSLQLS WERPRRPNGD IVGYLVTCEM 
    AQGGGPATAF RVDGDSPESR LTVPGLSENV PYKFKVQART TEGFGPEREG IITIESQDGG 
    PFPQLGSRAG LFQHPLQSEY SSITTTHTSA TEPFLVDGLT LGAQHLEAGG SLTRHVTQEF 
    VSRTLTTSGT LSTHMDQQFF QT

Genular Protein ID: 4291971899

Symbol: B7ZLD8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

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: 1752
  • Mass: 195041
  • Checksum: C39EC4D58A1A6DC6
  • Sequence:
  • MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY CTDEMFRDRR 
    CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ MSPQGLRVRL RPGEERHFEL 
    EVFEPLESPV DLYILMDFSN SMSDDLDNLK KMGQNLARVL SQLTSDYTIG FGKFVDKVSV 
    PQTDMRPEKL KEPWPNSDPP FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL 
    QTAVCTRDIG WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 
    TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE DSSNIVELLE 
    EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI RRGEVGIYQV QLRALEHVDG 
    THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI ICDVCTCELQ KEVRSARCSF NGDFVCGQCV 
    CSEGWSGQTC NCSTGSLSDI QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN 
    FQCPRTSGFL CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 
    CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE CNFKVKMVDE 
    LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV HKKKDCPPGS FWWLIPLLLL 
    LLPLLALLLL LCWKYCACCK ACLALLPCCN RGHMVGFKED HYMLRENLMA SDHLDTPMLR 
    SGNLKGRDVV RWKVTNNMQR PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC 
    AQLRQEVEEN LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK 
    LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFREGVE LVDVRVPLFI RPEDDDEKQL 
    LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS VSRGDQVARI PVIRRVLDGG 
    KSQVSYRTQD GTAQGNRDYI PVEGELLFQP GEAWKELQVK LLELQEVDSL LRGRQVRRFH 
    VQLSNPKFGA HLGQPHSTTI IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS 
    RKIHFNWLPP SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG 
    AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI TAYEVCYGLV 
    NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA RNGAGWGPER EAIINLATQP 
    KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS DDVLRSPSGS QRPSVSDDTE HLVNGRMDFA 
    FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH SHSTTLPRDY 
    STLTSVSSHD SRLTAGVPDT PTRLVFSALG PTSLRVSWQE PRCERPLQGY SVEYQLLNGG 
    ELHRLNIPNP AQTSVVVEDL LPNHSYVFRV RAQSQEGWGR EREGVITIES QVHPQSPLCP 
    LPGSAFTLST PSAPGPLVFT ALSPDSLQLS WERPRRPNGD IVGYLVTCEM AQGGGPATAF 
    RVDGDSPESR LTVPGLSENV PYKFKVQART TEGFGPEREG IITIESQDGG PFPQLGSRAG 
    LFQHPLQSEY SSITTTHTSA TEPFLVDGLT LGAQHLEAGG SLTRHVTQEF VSRTLTTSGT 
    LSTHMDQQFF QT

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.