Details for: BEST1

Gene ID: 7439

Symbol: BEST1

Ensembl ID: ENSG00000167995

Description: bestrophin 1

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: 49.9533
    Cell Significance Index: -7.7700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 39.7803
    Cell Significance Index: -10.0900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 27.5520
    Cell Significance Index: -11.3500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 24.5275
    Cell Significance Index: -11.5800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 22.7456
    Cell Significance Index: -11.7000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.1187
    Cell Significance Index: -10.0100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 4.6589
    Cell Significance Index: 74.7500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.2000
    Cell Significance Index: -12.9000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.7825
    Cell Significance Index: -10.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.5272
    Cell Significance Index: -6.7700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9250
    Cell Significance Index: 91.5100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.7921
    Cell Significance Index: 14.6400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7341
    Cell Significance Index: 662.8400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4920
    Cell Significance Index: 53.5200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4764
    Cell Significance Index: 77.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4075
    Cell Significance Index: 18.4700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3871
    Cell Significance Index: 23.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3259
    Cell Significance Index: 37.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2899
    Cell Significance Index: 15.0600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2547
    Cell Significance Index: 6.8300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.2526
    Cell Significance Index: 3.6200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2510
    Cell Significance Index: 17.3600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2212
    Cell Significance Index: 10.4000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2133
    Cell Significance Index: 40.6000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2105
    Cell Significance Index: 26.9900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.1426
    Cell Significance Index: 2.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1182
    Cell Significance Index: 7.4500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1153
    Cell Significance Index: 0.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1132
    Cell Significance Index: 20.4200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0987
    Cell Significance Index: 2.8300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.0939
    Cell Significance Index: 0.7500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0928
    Cell Significance Index: 2.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0902
    Cell Significance Index: 11.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0705
    Cell Significance Index: 38.5100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0659
    Cell Significance Index: 1.9000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0411
    Cell Significance Index: 5.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0351
    Cell Significance Index: 4.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0320
    Cell Significance Index: 1.4900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0311
    Cell Significance Index: 0.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0277
    Cell Significance Index: 2.0600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0232
    Cell Significance Index: 4.6100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0174
    Cell Significance Index: 0.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0160
    Cell Significance Index: 0.4000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0159
    Cell Significance Index: 0.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0132
    Cell Significance Index: 4.7500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0126
    Cell Significance Index: 0.1300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0071
    Cell Significance Index: 0.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0061
    Cell Significance Index: 2.6900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0052
    Cell Significance Index: 3.9000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0046
    Cell Significance Index: 0.4700
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.0009
    Cell Significance Index: 0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0008
    Cell Significance Index: 1.4500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0003
    Cell Significance Index: -0.2200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0035
    Cell Significance Index: -6.4500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0046
    Cell Significance Index: -7.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0080
    Cell Significance Index: -10.9100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0088
    Cell Significance Index: -0.1200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0105
    Cell Significance Index: -2.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0133
    Cell Significance Index: -9.8600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0149
    Cell Significance Index: -10.9400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0152
    Cell Significance Index: -9.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0164
    Cell Significance Index: -0.3500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0187
    Cell Significance Index: -10.5500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0201
    Cell Significance Index: -0.2400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0214
    Cell Significance Index: -9.7000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0259
    Cell Significance Index: -7.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0423
    Cell Significance Index: -7.2300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0431
    Cell Significance Index: -6.2600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0460
    Cell Significance Index: -1.2300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0533
    Cell Significance Index: -1.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0575
    Cell Significance Index: -12.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0667
    Cell Significance Index: -4.3000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0688
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0767
    Cell Significance Index: -8.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0789
    Cell Significance Index: -9.3000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0854
    Cell Significance Index: -1.7700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0900
    Cell Significance Index: -1.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0971
    Cell Significance Index: -5.9600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0974
    Cell Significance Index: -1.9000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1029
    Cell Significance Index: -10.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1081
    Cell Significance Index: -5.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1268
    Cell Significance Index: -9.7300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1284
    Cell Significance Index: -7.9000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1417
    Cell Significance Index: -3.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1419
    Cell Significance Index: -11.2400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1531
    Cell Significance Index: -10.3000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1541
    Cell Significance Index: -10.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1764
    Cell Significance Index: -9.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1811
    Cell Significance Index: -5.3400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2031
    Cell Significance Index: -10.5800
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.2122
    Cell Significance Index: -3.6500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2288
    Cell Significance Index: -10.1200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2487
    Cell Significance Index: -9.1300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2657
    Cell Significance Index: -4.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2717
    Cell Significance Index: -10.2900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2720
    Cell Significance Index: -9.5300
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.2789
    Cell Significance Index: -2.9900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2794
    Cell Significance Index: -4.7000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2797
    Cell Significance Index: -4.0100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2921
    Cell Significance Index: -8.5800

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. **Chloride Channel Protein:** Bestrophin 1 is a member of the CLDN family of chloride channel proteins, which are characterized by their ability to regulate chloride transport across epithelial membranes. 2. **Tissue Distribution:** The BEST1 gene is widely expressed in various cell types, including immature innate lymphoid cells, type B pancreatic cells, and intestinal epithelial cells. 3. **Protein Structure:** Bestrophin 1 consists of six transmembrane domains, with the N- and C-termini exposed to the cytosol and extracellular space, respectively. 4. **Ion Selectivity:** Bestrophin 1 exhibits high permeability to chloride ions, with low permeability to sodium and potassium ions. **Pathways and Functions:** 1. **Chloride Transport:** Bestrophin 1 regulates chloride transport across epithelial membranes, influencing ion homeostasis and maintaining proper fluid balance. 2. **Visual Perception:** Chloride channels, including Bestrophin 1, play a critical role in regulating light-induced chloride efflux in photoreceptor cells, which is essential for visual perception. 3. **Immune Response:** Bestrophin 1 is expressed in immune cells, including macrophages and innate lymphoid cells, where it modulates immune responses and regulates the production of cytokines. 4. **Regulation of Calcium Ion Transport:** Bestrophin 1 can regulate calcium ion transport across epithelial membranes, influencing cellular signaling pathways and immune responses. **Clinical Significance:** 1. **Best Vitelliform Macular Dystrophy:** Mutations in the BEST1 gene are associated with Best Vitelliform Macular Dystrophy (BVMD), a rare inherited disease characterized by progressive vision loss. 2. **Immune-mediated Diseases:** Abnormalities in Bestrophin 1 expression have been linked to various immune-mediated diseases, including autoimmune disorders and inflammatory conditions. 3. **Cancer and Metastasis:** Chloride channels, including Bestrophin 1, have been implicated in cancer progression and metastasis, highlighting the need for further research into their role in tumor biology. In conclusion, the Bestrophin 1 gene plays a critical role in regulating chloride transport, visual perception, and immune responses. Further studies on this gene and its protein product will provide valuable insights into the molecular mechanisms underlying these processes and may lead to the development of novel therapeutic strategies for various diseases.

Genular Protein ID: 570141945

Symbol: BEST1_HUMAN

Name: Vitelliform macular dystrophy protein 2

UniProtKB Accession Codes:

O76090 A8K0W6 B7Z3J8 B7Z736 O75904 Q53YQ9 Q8IUR9 Q8IZ80

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 9 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 21 EMDB 6 Ensembl 2 ExpressionAtlas 1 GO 24 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 9 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 6 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9700209

Title: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

PubMed ID: 9700209

DOI: 10.1093/hmg/7.9.1517

PubMed ID: 9662395

Title: Identification of the gene responsible for Best macular dystrophy.

PubMed ID: 9662395

DOI: 10.1038/915

PubMed ID: 12907679

Title: Structure-function analysis of the bestrophin family of anion channels.

PubMed ID: 12907679

DOI: 10.1074/jbc.m306150200

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: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11904445

Title: The vitelliform macular dystrophy protein defines a new family of chloride channels.

PubMed ID: 11904445

DOI: 10.1073/pnas.052692999

PubMed ID: 17110374

Title: Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.

PubMed ID: 17110374

DOI: 10.1074/jbc.m607383200

PubMed ID: 18179881

Title: Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

PubMed ID: 18179881

DOI: 10.1016/j.ajhg.2007.08.004

PubMed ID: 18400985

Title: Bestrophin Cl- channels are highly permeable to HCO3-.

PubMed ID: 18400985

DOI: 10.1152/ajpcell.00398.2007

PubMed ID: 19853238

Title: Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

PubMed ID: 19853238

DOI: 10.1016/j.ajhg.2009.09.015

PubMed ID: 21330666

Title: Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PubMed ID: 21330666

DOI: 10.1167/iovs.10-6707

PubMed ID: 26200502

Title: Autosomal recessive bestrophinopathy is not associated with the loss of bestrophin-1 anion channel function in a patient with a novel BEST1 mutation.

PubMed ID: 26200502

DOI: 10.1167/iovs.15-16910

PubMed ID: 26720466

Title: A novel BEST1 mutation in autosomal recessive bestrophinopathy.

PubMed ID: 26720466

DOI: 10.1167/iovs.15-18168

PubMed ID: 29121962

Title: Direct interaction with 14-3-3gamma promotes surface expression of Best1 channel in astrocyte.

PubMed ID: 29121962

DOI: 10.1186/s13041-017-0331-x

PubMed ID: 35789156

Title: Structures and gating mechanisms of human bestrophin anion channels.

PubMed ID: 35789156

DOI: 10.1038/s41467-022-31437-7

PubMed ID: 10331951

Title: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.

PubMed ID: 10331951

DOI: 10.1006/geno.1999.5808

PubMed ID: 10394929

Title: The mutation spectrum of the bestrophin protein -- functional implications.

PubMed ID: 10394929

DOI: 10.1007/s004390050972

PubMed ID: 10453731

Title: Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.

PubMed ID: 10453731

DOI: 10.1007/s004390050986

PubMed ID: 10682987

Title: A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case.

PubMed ID: 10682987

DOI: 10.1016/s0002-9394(99)00327-x

PubMed ID: 10766140

Title: Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

PubMed ID: 10766140

DOI: 10.1001/archopht.118.4.538

PubMed ID: 10854112

Title: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

PubMed ID: 10854112

DOI: 10.1038/sj.ejhg.5200447

PubMed ID: 10798642

Title: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

PubMed ID: 10798642

PubMed ID: 11241846

Title: Identification of novel VMD2 gene mutations in patients with Best vitelliform macular dystrophy.

PubMed ID: 11241846

DOI: 10.1002/humu.9

PubMed ID: 11449320

Title: Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

PubMed ID: 11449320

DOI: 10.1076/opge.22.2.107.2226

PubMed ID: 12187431

Title: Identification of a novel VMD2 mutation in Japanese patients with Best disease.

PubMed ID: 12187431

DOI: 10.1076/opge.23.2.129.2213

PubMed ID: 12324875

Title: Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.

PubMed ID: 12324875

DOI: 10.1076/opge.23.3.167.7880

PubMed ID: 14517959

Title: Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).

PubMed ID: 14517959

DOI: 10.1002/humu.9189

PubMed ID: 13129869

Title: Phenotype and genotype correlations in two best families.

PubMed ID: 13129869

DOI: 10.1016/s0161-6420(03)00575-x

PubMed ID: 15176385

Title: Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).

PubMed ID: 15176385

PubMed ID: 15452077

Title: Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

PubMed ID: 15452077

DOI: 10.1167/iovs.04-0550

PubMed ID: 18766995

Title: Mutation analysis of the VMD2 gene in Thai families with Best macular dystrophy.

PubMed ID: 18766995

DOI: 10.1080/13816810802087394

PubMed ID: 19357557

Title: Clinical and molecular genetic analysis of Best vitelliform macular dystrophy.

PubMed ID: 19357557

DOI: 10.1097/iae.0b013e31819d4fda

Sequence Information:

  • Length: 585
  • Mass: 67684
  • Checksum: D0629AAF65BA1ACD
  • Sequence:
    • MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL 
MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ 
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM 
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV 
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE 
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM 
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL 
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP 
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN 
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS

Genular Protein ID: 650988113

Symbol: A0A0S2Z4M4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4M4

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 GO 3 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 RefSeq 1 Rhea 1 RuleBase 1 SMR 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 498
  • Mass: 57349
  • Checksum: EB111B7121ADC566
  • Sequence:
    • MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ 
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM 
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV 
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV SLLAVDEMHQ 
DLPRMEPDMY WNKPEPQPPY TAASAQFRRA SFMGSTFNIS LNKEEMEFQP NQEDEEDAHA 
GIIGRFLGLQ SHDHHPPRAN SRTKLLWPKR ESLLHEGLPK NHKAAKQNVR GQEDNKAWKL 
KAVDAFKSAP LYQRPGYYSA PQTPLSPTPM FFPLEPSAPS KLHSVTGIDT KDKSLKTVSS 
GAKKSFELLS ESDGALMEHP EVSQVRRKTV EFNLTDMPEI PENHLKEPLE QSPTNIHTTL 
KDHMDPYWAL ENRDEAHS

Genular Protein ID: 117729380

Symbol: B7Z375_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z375 E9PDT5

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 2 GO 3 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 ProteomicsDB 1 RefSeq 1 Rhea 1 RuleBase 1

Sequence Information:

  • Length: 270
  • Mass: 31502
  • Checksum: 1C889714451F5D03
  • Sequence:
    • MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL 
MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ 
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM 
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQPE 
QRGDGVPAQS GGRGGCSRWH HWPLPRPAVP

Genular Protein ID: 285569529

Symbol: A0A0S2Z579_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z579

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 3 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 1 Rhea 1 RuleBase 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 525
  • Mass: 60524
  • Checksum: 5D288AA8BBF785ED
  • Sequence:
    • MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ 
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM 
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV 
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE 
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM 
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL 
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP 
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN 
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS

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.