Status: REVIEWED Description Transcript Variant: This variant (2) is the longer transcript and it encodes the longer isoform (B). Location: 291 → 516 Laminin_N Laminin N-terminal (Domain VI) Location: 641 → 691 Laminin_EGF Laminin EGF domain cl02806 Location: 1058 → 1132 fn3 Fibronectin type III domain pfam00053 Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Location: 1242 → 1357 FN3 Fibronectin type 3 domain One of three types of internal repeats found in the plasma protein fibronectin. Location: 900 → 948 EGF_Lam Laminin-type epidermal growth factor-like domain laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation the laminin-type epidermal growth factor-like module occurs in. Location: 146 → 283 LamGL LamG-like jellyroll fold domain cd00055 Location: 847 → 897 EGF_Lam Laminin-type epidermal growth factor-like domai smart00560 Location: 1368 → 1451 FN3 Fibronectin type 3 domain smart00180 The resulting protein (isoform A) has a shorter and distinct C-terminus, compared to isoform B. Status: REVIEWED Description Transcript Variant: This variant (1) uses a different splice site in its 3' coding region when compared to variant 2. ![]() NG_009497.2 RefSeqGene Range 5001.805558 Download GenBank, FASTA, Sequence Viewer (Graphics) This section to the one reported in Genomic regions, Identify version mismatches by comparing the version of the RefSeq in These reference sequences are curated independently of the genomeĪnnotation cycle, so their versions may not match the RefSeq versions in the current These reference sequences exist independently of genome builds. USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer.Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy.USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. ![]() ![]() Expression Biased expression in liver (RPKM 1.7), testis (RPKM 0.3) and 1 other tissue See more Orthologs mouse all NEW Try the new Gene table Multiple transcript variants encoding different isoforms have been found for this gene. ![]() Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Full Name usherin provided by HGNC Primary source HGNC:HGNC:12601 See related Ensembl:ENSG00000042781 MIM:608400 AllianceGenome:HGNC:12601 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as US2 RP39 USH2 dJ1111A8.1 Summary This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs.
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