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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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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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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

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