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    ASAH2B N-acylsphingosine amidohydrolase 2B [ Homo sapiens (human) ]

    Gene ID: 653308, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ASAH2Bprovided by HGNC
    Official Full Name
    N-acylsphingosine amidohydrolase 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:23456
    See related
    Ensembl:ENSG00000204147 MIM:610987; AllianceGenome:HGNC:23456
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASAH2C; ASAH2L; bA98I6.3; bA449O16.3
    Summary
    Predicted to enable N-acylsphingosine amidohydrolase activity. Predicted to be involved in ceramide catabolic process; long-chain fatty acid biosynthetic process; and sphingosine biosynthetic process. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Annotation information
    Note: In June, 2007, the name of this locus was changed to conform to the location published by Deloukas et al., PubMed 15164054. [15 Jun 2007]
    Expression
    Broad expression in duodenum (RPKM 26.6), small intestine (RPKM 20.9) and 18 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ASAH2B in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (50739936..50759255)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (51588516..51607827)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (52499696..52519015)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cathepsin L pseudogene 4 Neighboring gene protein geranylgeranyltransferase type I subunit beta pseudogene 1 Neighboring gene APOBEC1 complementation factor Neighboring gene MPRA-validated peak944 silencer Neighboring gene MIX23 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. Avramopoulos D, et al. Neurogenetics, 2007 Apr. PMID 17334805
    2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    3. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acylsphingosine amidohydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in ceramide catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative inactive neutral ceramidase B
    Names
    ASAH2-like protein
    N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B
    putative inactive N-acylsphingosine amidohydrolase 2B
    putative inactive non-lysosomal ceramidase B

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001079516.4 → NP_001072984.1  putative inactive neutral ceramidase B isoform 1

      See identical proteins and their annotated locations for NP_001072984.1

      Status: VALIDATED

      Source sequence(s)
      AL589794, BG773189, BI459539, CA312157
      Consensus CDS
      CCDS31203.1
      UniProtKB/Swiss-Prot
      B7Z261, P0C7U1
      Related
      ENSP00000363118.1, ENST00000374006.1
      Conserved Domains (1) summary
      pfam17048
      Location:30 → 162
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    2. NM_001321957.2 → NP_001308886.1  putative inactive neutral ceramidase B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL589794
      Consensus CDS
      CCDS31203.1
      UniProtKB/Swiss-Prot
      B7Z261, P0C7U1
      Related
      ENSP00000495463.1, ENST00000643851.1
      Conserved Domains (1) summary
      pfam17048
      Location:30 → 162
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    3. NM_001321958.2 → NP_001308887.1  putative inactive neutral ceramidase B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK294369, AL589794, CA312157
      Consensus CDS
      CCDS81465.1
      UniProtKB/Swiss-Prot
      P0C7U1
      Related
      ENSP00000496089.1, ENST00000647317.2
      Conserved Domains (1) summary
      pfam17048
      Location:2 → 157
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    4. NM_001321959.2 → NP_001308888.1  putative inactive neutral ceramidase B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL589794, BI459539, CA312157, DC322352
      Consensus CDS
      CCDS81465.1
      UniProtKB/Swiss-Prot
      P0C7U1
      Related
      ENSP00000363119.1, ENST00000374007.5
      Conserved Domains (1) summary
      pfam17048
      Location:2 → 157
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    5. NM_001321960.2 → NP_001308889.1  putative inactive neutral ceramidase B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL589794, BI459539, CA312157, DC404141
      Consensus CDS
      CCDS81465.1
      UniProtKB/Swiss-Prot
      P0C7U1
      Conserved Domains (1) summary
      pfam17048
      Location:2 → 157
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    RNA

    1. NR_135904.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL589794, BI459539, CA312157, CN428611
      Related
      ENST00000645350.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      50739936..50759255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      51588516..51607827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7U1.1 GenPept UniProtKB/Swiss-Prot:P0C7U1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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