Status: REVIEWED Description Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a). Status: REVIEWED Description Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2b. Status: REVIEWED Description Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2b. Location: 79 → 748 M13 Peptidase family M13 includes neprilysin and endothelin-converting enzyme I Status: REVIEWED Description Transcript Variant: This variant (1) contains an alternate 5' UTR exon compared to variant 2b. See identical proteins and their annotated locations for NP_000893.2
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NG_051105.1 RefSeqGene Range 60549.164606 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. Expression Biased expression in duodenum (RPKM 88.5), kidney (RPKM 83.7) and 8 other tissues See more Orthologs mouse all NEW Try the new Gene table The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. Database of Single Nucleotide Polymorphisms (dbSNP)įull Name membrane metalloendopeptidase provided by HGNC Primary source HGNC:HGNC:7154 See related Ensembl:ENSG00000196549 MIM:120520 AllianceGenome:HGNC:7154 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 NEP SFE CD10 CALLA CMT2T SCA43 Summary The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL).Database of Genomic Structural Variation (dbVar).Online Mendelian Inheritance in Man (OMIM).Database of Genotypes and Phenotypes (dbGaP).
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