Details for: EDNRB

Gene ID: 1910

Symbol: EDNRB

Ensembl ID: ENSG00000136160

Description: endothelin receptor type B

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: embryonic stem cell (CL0002322)
    Fold Change: 59.1459
    Cell Significance Index: -24.3700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 48.8115
    Cell Significance Index: -19.8300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 48.3984
    Cell Significance Index: -22.8500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.8957
    Cell Significance Index: -19.9500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 8.1139
    Cell Significance Index: 422.6400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 2.8727
    Cell Significance Index: 24.1300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.0844
    Cell Significance Index: 59.7500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.9969
    Cell Significance Index: 13.9400
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.7537
    Cell Significance Index: 4.4500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.7390
    Cell Significance Index: 7.6500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.4564
    Cell Significance Index: 8.0700
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: 0.2103
    Cell Significance Index: 2.8800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0960
    Cell Significance Index: 0.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0470
    Cell Significance Index: 6.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0350
    Cell Significance Index: 21.8500
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.0251
    Cell Significance Index: 0.1800
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.0182
    Cell Significance Index: 0.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0138
    Cell Significance Index: 25.9100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0045
    Cell Significance Index: 0.1200
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.0043
    Cell Significance Index: 0.0200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0032
    Cell Significance Index: 0.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0010
    Cell Significance Index: 0.7400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0114
    Cell Significance Index: -5.0600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0127
    Cell Significance Index: -1.7500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0128
    Cell Significance Index: -9.5100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0163
    Cell Significance Index: -30.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0189
    Cell Significance Index: -10.6500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0190
    Cell Significance Index: -29.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0223
    Cell Significance Index: -30.2600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0245
    Cell Significance Index: -0.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0276
    Cell Significance Index: -17.5400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0296
    Cell Significance Index: -21.7000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0321
    Cell Significance Index: -11.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0368
    Cell Significance Index: -7.3100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0403
    Cell Significance Index: -18.3000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0452
    Cell Significance Index: -0.6500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0556
    Cell Significance Index: -11.7100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0595
    Cell Significance Index: -1.0000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0613
    Cell Significance Index: -17.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0613
    Cell Significance Index: -12.3000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0779
    Cell Significance Index: -14.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0799
    Cell Significance Index: -13.6500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1076
    Cell Significance Index: -5.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1154
    Cell Significance Index: -16.7700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1333
    Cell Significance Index: -3.5700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1429
    Cell Significance Index: -17.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1496
    Cell Significance Index: -15.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1689
    Cell Significance Index: -21.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1748
    Cell Significance Index: -18.2000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1775
    Cell Significance Index: -3.4700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1795
    Cell Significance Index: -20.4900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1800
    Cell Significance Index: -2.5900
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.1910
    Cell Significance Index: -1.7900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1948
    Cell Significance Index: -22.7000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2157
    Cell Significance Index: -3.7300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2174
    Cell Significance Index: -2.4700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2187
    Cell Significance Index: -25.0600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2201
    Cell Significance Index: -16.8900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2210
    Cell Significance Index: -15.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2218
    Cell Significance Index: -13.6300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2801
    Cell Significance Index: -22.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2845
    Cell Significance Index: -7.9500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2947
    Cell Significance Index: -12.0800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2977
    Cell Significance Index: -22.1900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3031
    Cell Significance Index: -7.7900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3049
    Cell Significance Index: -14.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3325
    Cell Significance Index: -8.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3414
    Cell Significance Index: -19.1600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3460
    Cell Significance Index: -21.8100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3464
    Cell Significance Index: -23.2900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3715
    Cell Significance Index: -17.3200
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.4220
    Cell Significance Index: -2.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4419
    Cell Significance Index: -23.2000
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.4430
    Cell Significance Index: -5.0700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4564
    Cell Significance Index: -23.7100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5278
    Cell Significance Index: -23.3500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.5972
    Cell Significance Index: -12.5000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6069
    Cell Significance Index: -22.2800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6077
    Cell Significance Index: -17.9000
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.6087
    Cell Significance Index: -7.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6137
    Cell Significance Index: -23.2400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6193
    Cell Significance Index: -21.5200
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.6499
    Cell Significance Index: -5.0000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6500
    Cell Significance Index: -22.7700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.6583
    Cell Significance Index: -4.4600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.6853
    Cell Significance Index: -16.6000
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.6964
    Cell Significance Index: -6.6200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7007
    Cell Significance Index: -22.9400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.7146
    Cell Significance Index: -10.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7275
    Cell Significance Index: -23.1700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.7332
    Cell Significance Index: -9.3900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7570
    Cell Significance Index: -19.9100
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.7988
    Cell Significance Index: -4.7400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.8330
    Cell Significance Index: -23.7700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.8381
    Cell Significance Index: -20.9000
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: -0.8409
    Cell Significance Index: -4.7800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.8798
    Cell Significance Index: -14.5000
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: -0.8814
    Cell Significance Index: -5.7200
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.8917
    Cell Significance Index: -8.5300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.8923
    Cell Significance Index: -21.4000

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. **Receptor Function:** EDNRB is a non-selective endothelin receptor, capable of mediating both vasoconstriction and vasodilation, depending on the cellular context. 2. **Cellular Expression:** EDNRB is highly expressed in endothelial cells, vascular smooth muscle cells, neural crest-derived cells, and enteric nervous system cells. 3. **Signal Transduction:** EDNRB activates Gαq signaling pathways, leading to the activation of phospholipase C and subsequent production of inositol trisphosphate and diacylglycerol. 4. **Tissue-Specific Functions:** EDNRB plays distinct roles in various tissues, including cardiovascular regulation, renal function, and neural development. **Pathways and Functions:** 1. **Endothelin Signaling:** EDNRB mediates the effects of endothelin-1, a potent vasoconstrictor peptide, on vascular smooth muscle cells and endothelial cells. 2. **Cardiovascular Regulation:** EDNRB is involved in the regulation of blood pressure, cardiac function, and vascular tone. 3. **Renal Function:** EDNRB plays a role in renal sodium excretion, albumin absorption, and glomerular filtration rate. 4. **Neurological Development:** EDNRB is essential for the development and migration of neural crest-derived cells, including enteric neurons and melanocytes. 5. **Cancer:** EDNRB has been implicated in the progression and metastasis of various cancers, including colorectal, breast, and lung cancer. **Clinical Significance:** 1. **Cardiovascular Diseases:** EDNRB has been implicated in the pathogenesis of cardiovascular disorders, including hypertension, heart failure, and aortic aneurysm. 2. **Cancer:** Dysregulation of EDNRB has been associated with cancer progression and metastasis, highlighting its potential as a therapeutic target. 3. **Neurological Disorders:** EDNRB has been implicated in the development of neurological conditions, including autism, schizophrenia, and Alzheimer's disease. 4. **Pharmacological Targeting:** EDNRB has been targeted by several pharmacological agents, including endothelin receptor antagonists and inhibitors of the endothelin system. In conclusion, the EDNRB gene is a complex and multifaceted component of the endothelin system, playing a crucial role in various physiological and pathological processes. Further research is necessary to fully elucidate the mechanisms of EDNRB-mediated signaling and to explore its therapeutic potential in the treatment of human diseases.

Genular Protein ID: 2711194676

Symbol: EDNRB_HUMAN

Name: Endothelin receptor non-selective type

UniProtKB Accession Codes:

P24530 A2A2Z8 A8K3T4 O15343 Q59GB1 Q5W0G9 Q8NHM6 Q8NHM7 Q8NHM8 Q8NHM9 Q9UD23 Q9UQK3

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 7 DrugCentral 1 EMBL 20 EMDB 3 Ensembl 6 ExpressionAtlas 1 GO 57 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 12 PIR 1 PRINTS 3 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 3 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1710450

Title: Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor.

PubMed ID: 1710450

DOI: 10.1016/0006-291x(91)91944-8

PubMed ID: 1648908

Title: Molecular cloning of a non-isopeptide-selective human endothelin receptor.

PubMed ID: 1648908

DOI: 10.1016/0006-291x(91)91806-n

PubMed ID: 1713452

Title: Cloning and functional expression of human cDNA for the ETB endothelin receptor.

PubMed ID: 1713452

DOI: 10.1016/0006-291x(91)90158-4

PubMed ID: 1282938

Title: Molecular cloning of human endothelin (ET) receptors ETA and ETB.

PubMed ID: 1282938

DOI: 10.1097/00005344-199204002-00002

PubMed ID: 1291713

Title: Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells.

PubMed ID: 1291713

DOI: 10.1253/jcj.56.supplementv_1303

PubMed ID: 8429023

Title: The human endothelin-B receptor gene. Structural organization and chromosomal assignment.

PubMed ID: 8429023

DOI: 10.1016/s0021-9258(18)53717-0

PubMed ID: 8440682

Title: Molecular characterization and regulation of the human endothelin receptors.

PubMed ID: 8440682

DOI: 10.1016/s0021-9258(18)53554-7

PubMed ID: 7536888

Title: Cloning and expression of an endothelin receptor subtype B from human prostate that mediates contraction.

PubMed ID: 7536888

PubMed ID: 8810293

Title: Molecular characterization of a novel human endothelin receptor splice variant.

PubMed ID: 8810293

DOI: 10.1074/jbc.271.41.25300

PubMed ID: 10072757

Title: Novel endothelin B receptor transcripts with the potential of generating a new receptor.

PubMed ID: 10072757

DOI: 10.1016/s0378-1119(99)00014-1

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 12628594

Title: Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome.

PubMed ID: 12628594

DOI: 10.1016/s0890-8508(03)00003-3

PubMed ID: 9284755

Title: Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3.

PubMed ID: 9284755

DOI: 10.1210/jcem.82.9.4209

PubMed ID: 9261180

Title: Palmitoylation of human endothelinB. Its critical role in G protein coupling and a differential requirement for the cytoplasmic tail by G protein subtypes.

PubMed ID: 9261180

DOI: 10.1074/jbc.272.34.21589

PubMed ID: 9359036

Title: Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.

PubMed ID: 9359036

PubMed ID: 8001158

Title: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

PubMed ID: 8001158

DOI: 10.1016/0092-8674(94)90016-7

PubMed ID: 8634719

Title: Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

PubMed ID: 8634719

DOI: 10.1093/hmg/4.12.2407

PubMed ID: 8852659

Title: Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.

PubMed ID: 8852659

DOI: 10.1093/hmg/5.3.351

PubMed ID: 8852660

Title: Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

PubMed ID: 8852660

DOI: 10.1093/hmg/5.3.355

PubMed ID: 8630503

Title: A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

PubMed ID: 8630503

DOI: 10.1038/ng0496-445

PubMed ID: 9760196

Title: Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).

PubMed ID: 9760196

DOI: 10.1007/s004390050797

PubMed ID: 10874640

Title: A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

PubMed ID: 10874640

PubMed ID: 11471546

Title: Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.

PubMed ID: 11471546

DOI: 10.1007/bf03401945

PubMed ID: 11891690

Title: ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

PubMed ID: 11891690

DOI: 10.1002/ajmg.10172

PubMed ID: 12189494

Title: SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

PubMed ID: 12189494

DOI: 10.1007/s00439-002-0765-8

PubMed ID: 28236341

Title: EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

PubMed ID: 28236341

DOI: 10.1002/humu.23206

Sequence Information:

  • Length: 442
  • Mass: 49644
  • Checksum: CD4F96CF92C7C51E
  • Sequence:
    • MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT KTLWPKGSNA 
SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF KYINTVVSCL VFVLGIIGNS 
TLLRIIYKNK CMRNGPNILI ASLALGDLLH IVIDIPINVY KLLAEDWPFG AEMCKLVPFI 
QKASVGITVL SLCALSIDRY RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF 
DIITMDYKGS YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM 
LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY NQNDPNRCEL 
LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC LCCWCQSFEE KQSLEEKQSC 
LKFKANDHGY DNFRSSNKYS SS

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.