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    AHCYL2 adenosylhomocysteinase like 2 [ Homo sapiens (human) ]

    Gene ID: 23382, updated on 5-Jan-2022

    Summary

    Official Symbol
    AHCYL2provided by HGNC
    Official Full Name
    adenosylhomocysteinase like 2provided by HGNC
    Primary source
    HGNC:HGNC:22204
    See related
    Ensembl:ENSG00000158467 MIM:616520
    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
    IRBIT2; ADOHCYASE3
    Summary
    The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
    Expression
    Broad expression in colon (RPKM 37.6), thyroid (RPKM 17.8) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AHCYL2 in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (129225030..129430211)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128864871..129070052)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tetraspanin 33 Neighboring gene RNY1 pseudogene 11 Neighboring gene smoothened, frizzled class receptor Neighboring gene Sharpr-MPRA regulatory region 5606 Neighboring gene uncharacterized LOC105375500 Neighboring gene uncharacterized LOC107986847 Neighboring gene RNA, U7 small nuclear 16 pseudogene Neighboring gene cell division cycle 26 pseudogene 1 Neighboring gene striatin interacting protein 2 Neighboring gene RNA, U1 small nuclear 72, pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 3

    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

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
    GeneReviews: Not available
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    GeneReviews: Not available
    Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21719, KIAA0828

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables adenosylhomocysteinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in S-adenosylmethionine cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    adenosylhomocysteinase 3
    Names
    IP(3)Rs binding protein released with IP(3) 2
    S-adenosyl-L-homocysteine hydrolase 3
    S-adenosylhomocysteine hydrolase-like 2
    long-IRBIT
    putative adenosylhomocysteinase 3
    NP_001124192.1
    NP_001124194.2
    NP_001124195.1
    NP_001380315.1
    NP_001380316.1
    NP_001380317.1
    NP_001380318.1
    NP_001380319.1
    NP_056143.1
    XP_005250294.1
    XP_011514289.1
    XP_011514290.1
    XP_016867393.1
    XP_016867394.1
    XP_016867395.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_029180.1 RefSeqGene

      Range
      5017..210198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130720.3NP_001124192.1  adenosylhomocysteinase 3 isoform b

      See identical proteins and their annotated locations for NP_001124192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AB020635, BC024325, BG700017
      Consensus CDS
      CCDS47706.1
      UniProtKB/Swiss-Prot
      Q96HN2
      Related
      ENSP00000413639.2, ENST00000446544.6
      Conserved Domains (2) summary
      PRK05476
      Location:184604
      PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
      pfam05221
      Location:184609
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    2. NM_001130722.3NP_001124194.2  adenosylhomocysteinase 3 isoform c

      See identical proteins and their annotated locations for NP_001124194.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AB020635, AK295851, BC024325
      Consensus CDS
      CCDS47707.2
      UniProtKB/Swiss-Prot
      Q96HN2
      Related
      ENSP00000420801.1, ENST00000490911.5
      Conserved Domains (1) summary
      smart00996
      Location:84507
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    3. NM_001130723.3NP_001124195.1  adenosylhomocysteinase 3 isoform d

      See identical proteins and their annotated locations for NP_001124195.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a. Variants 4 and 5 both encode the same isoform (d).
      Source sequence(s)
      AB020635, AK025372, BC024325, DA890615
      Consensus CDS
      CCDS47708.1
      UniProtKB/Swiss-Prot
      Q96HN2
      Related
      ENSP00000420459.1, ENST00000474594.5
      Conserved Domains (1) summary
      smart00996
      Location:84507
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    4. NM_001393386.1NP_001380315.1  adenosylhomocysteinase 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 4, encodes isoform d.
      Source sequence(s)
      AC009244
      Conserved Domains (1) summary
      smart00996
      Location:84507
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    5. NM_001393387.1NP_001380316.1  adenosylhomocysteinase 3 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC009244, AC011005
      Conserved Domains (1) summary
      smart00996
      Location:182605
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    6. NM_001393388.1NP_001380317.1  adenosylhomocysteinase 3 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 8 and 9, encodes isoform f.
      Source sequence(s)
      AC009244
      Conserved Domains (1) summary
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    7. NM_001393389.1NP_001380318.1  adenosylhomocysteinase 3 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 7 and 9, encodes isoform f.
      Source sequence(s)
      AC009244
      Conserved Domains (1) summary
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    8. NM_001393390.1NP_001380319.1  adenosylhomocysteinase 3 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 7 and 8, encodes isoform f.
      Source sequence(s)
      AC009244
      Conserved Domains (1) summary
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    9. NM_015328.4NP_056143.1  adenosylhomocysteinase 3 isoform a

      See identical proteins and their annotated locations for NP_056143.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AB020635, BC024325
      Consensus CDS
      CCDS5812.1
      UniProtKB/Swiss-Prot
      Q96HN2
      Related
      ENSP00000315931.3, ENST00000325006.8
      Conserved Domains (1) summary
      pfam05221
      Location:185610
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    RNA

    1. NR_171671.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009244, AC011005

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      129225030..129430211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011906.1XP_016867395.1  adenosylhomocysteinase 3 isoform X2

      Conserved Domains (1) summary
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    2. XM_017011904.1XP_016867393.1  adenosylhomocysteinase 3 isoform X2

      Conserved Domains (1) summary
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    3. XM_011515987.2XP_011514289.1  adenosylhomocysteinase 3 isoform X1

      See identical proteins and their annotated locations for XP_011514289.1

      Conserved Domains (1) summary
      smart00996
      Location:85508
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    4. XM_011515988.2XP_011514290.1  adenosylhomocysteinase 3 isoform X1

      See identical proteins and their annotated locations for XP_011514290.1

      Conserved Domains (1) summary
      smart00996
      Location:85508
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    5. XM_005250237.1XP_005250294.1  adenosylhomocysteinase 3 isoform X1

      See identical proteins and their annotated locations for XP_005250294.1

      Conserved Domains (1) summary
      smart00996
      Location:85508
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    6. XM_017011905.2XP_016867394.1  adenosylhomocysteinase 3 isoform X2

      Conserved Domains (1) summary
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
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