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

Gene ID: 653308, updated on 27-Nov-2024

Summary

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. [provided by Alliance of Genome Resources, Nov 2024]
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
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Genomic context

See ASAH2B in Genome Data Viewer
Location:
10q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (50739936..50759255)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (51588516..51607827)
RS_2024_09 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001079516.4NP_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:30162
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  2. NM_001321957.2NP_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:30162
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  3. NM_001321958.2NP_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:2157
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  4. NM_001321959.2NP_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:2157
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  5. NM_001321960.2NP_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:2157
    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_2024_08

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)