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    AHCYL2 adenosylhomocysteinase like 2 [ Homo sapiens (human) ]

    Gene ID: 23382, updated on 5-May-2024

    Summary

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    Official Symbol
    AHCYL2provided by HGNC
    Official Full Name
    adenosylhomocysteinase like 2provided by HGNC
    Primary source
    HGNC:HGNC:22204
    See related
    Ensembl:ENSG00000158467 MIM:616520; AllianceGenome:HGNC:22204
    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
    mouse all
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    Genomic context

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    Location:
    7q32.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (129225030..129430211)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130537959..130743182)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 18624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26625 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128809737-128810606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18625 Neighboring gene RNY1 pseudogene 11 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:128856579-128857167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26627 Neighboring gene Sharpr-MPRA regulatory region 13971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18628 Neighboring gene smoothened, frizzled class receptor Neighboring gene Sharpr-MPRA regulatory region 5606 Neighboring gene uncharacterized LOC124900234 Neighboring gene MPRA-validated peak6717 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128979582-128980146 Neighboring gene uncharacterized LOC105375500 Neighboring gene uncharacterized LOC107986847 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr7:129015095-129015655 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:129015656-129016215 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:129022382-129022566 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:129059227-129059428 Neighboring gene RNA, U7 small nuclear 16 pseudogene Neighboring gene cell division cycle 26 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18629 Neighboring gene striatin interacting protein 2 Neighboring gene NANOG hESC enhancer GRCh37_chr7:129109680-129110219 Neighboring gene RNA, U1 small nuclear 72, pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 3

    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. New p53 related genes in human tumors: significant downregulation in colon and lung carcinomas. LLeonart ME, et al. Oncol Rep, 2006 Sep. PMID 16865262
    2. AHCYL2 (long-IRBIT) as a potential regulator of the electrogenic Na(+)-HCO3(-) cotransporter NBCe1-B. Yamaguchi S, et al. FEBS Lett, 2014 Mar 3. PMID 24472682
    3. Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate. Frazier-Wood AC, et al. Pharmacogenet Genomics, 2012 Oct. PMID 22890011, Free PMC Article
    4. An IRBIT homologue lacks binding activity to inositol 1,4,5-trisphosphate receptor due to the unique N-terminal appendage. Ando H, et al. J Neurochem, 2009 Apr. PMID 19220705
    5. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. Aslibekyan S, et al. Pharmacogenet Genomics, 2012 Mar. PMID 22228203, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of KIAA0828 is associated with colon and lung carcinomas
      Title: New p53 related genes in human tumors: significant downregulation in colon and lung carcinomas.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
    EBI GWAS Catalog
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    EBI GWAS Catalog
    Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    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
    		  
    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

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    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_047276043.1
    XP_047276044.1
    XP_047276045.1
    XP_047276046.1
    XP_054213680.1
    XP_054213681.1
    XP_054213682.1
    XP_054213683.1
    XP_054213684.1
    XP_054213685.1
    XP_054213686.1

    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.

    Genomic

    1. NG_029180.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001130720.3 → NP_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/TrEMBL
      H0Y8B3
      Related
      ENSP00000413639.2, ENST00000446544.6
      Conserved Domains (2) summary
      PRK05476
      Location:184 → 604
      PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
      pfam05221
      Location:184 → 609
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    2. NM_001130722.3 → NP_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/TrEMBL
      H0Y8B3
      Related
      ENSP00000420801.1, ENST00000490911.5
      Conserved Domains (1) summary
      smart00996
      Location:84 → 507
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    3. NM_001130723.3 → NP_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/TrEMBL
      H0Y8B3
      Related
      ENSP00000420459.1, ENST00000474594.5
      Conserved Domains (1) summary
      smart00996
      Location:84 → 507
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    4. NM_001393386.1 → NP_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
      Consensus CDS
      CCDS47708.1
      UniProtKB/TrEMBL
      H0Y8B3
      Conserved Domains (1) summary
      smart00996
      Location:84 → 507
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    5. NM_001393387.1 → NP_001380316.1  adenosylhomocysteinase 3 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC009244, AC011005
      UniProtKB/TrEMBL
      Q2NKW8
      Conserved Domains (1) summary
      smart00996
      Location:182 → 605
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    6. NM_001393388.1 → NP_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
      UniProtKB/TrEMBL
      Q2NKW8
      Conserved Domains (1) summary
      smart00996
      Location:1 → 403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    7. NM_001393389.1 → NP_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
      UniProtKB/TrEMBL
      Q2NKW8
      Conserved Domains (1) summary
      smart00996
      Location:1 → 403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    8. NM_001393390.1 → NP_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
      UniProtKB/TrEMBL
      Q2NKW8
      Conserved Domains (1) summary
      smart00996
      Location:1 → 403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    9. NM_015328.4 → NP_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
      B4DIZ5, D9N155, O94917, Q96HN2
      UniProtKB/TrEMBL
      H0Y8B3
      Related
      ENSP00000315931.3, ENST00000325006.8
      Conserved Domains (1) summary
      pfam05221
      Location:185 → 610
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    RNA

    1. NR_171671.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009244, AC011005

    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_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047420088.1 → XP_047276044.1  adenosylhomocysteinase 3 isoform X2

    2. XM_047420087.1 → XP_047276043.1  adenosylhomocysteinase 3 isoform X1

    3. XM_011515987.3 → XP_011514289.1  adenosylhomocysteinase 3 isoform X2

      See identical proteins and their annotated locations for XP_011514289.1

      UniProtKB/TrEMBL
      H0Y8B3
      Conserved Domains (1) summary
      smart00996
      Location:85 → 508
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    4. XM_011515988.3 → XP_011514290.1  adenosylhomocysteinase 3 isoform X2

      See identical proteins and their annotated locations for XP_011514290.1

      UniProtKB/TrEMBL
      H0Y8B3
      Conserved Domains (1) summary
      smart00996
      Location:85 → 508
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    5. XM_047420089.1 → XP_047276045.1  adenosylhomocysteinase 3 isoform X3

    6. XM_005250237.2 → XP_005250294.1  adenosylhomocysteinase 3 isoform X2

      See identical proteins and their annotated locations for XP_005250294.1

      UniProtKB/TrEMBL
      H0Y8B3
      Conserved Domains (1) summary
      smart00996
      Location:85 → 508
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    7. XM_047420090.1 → XP_047276046.1  adenosylhomocysteinase 3 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130537959..130743182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357709.1 → XP_054213684.1  adenosylhomocysteinase 3 isoform X2

    2. XM_054357705.1 → XP_054213680.1  adenosylhomocysteinase 3 isoform X1

    3. XM_054357707.1 → XP_054213682.1  adenosylhomocysteinase 3 isoform X2

    4. XM_054357708.1 → XP_054213683.1  adenosylhomocysteinase 3 isoform X2

    5. XM_054357710.1 → XP_054213685.1  adenosylhomocysteinase 3 isoform X3

    6. XM_054357706.1 → XP_054213681.1  adenosylhomocysteinase 3 isoform X2

    7. XM_054357711.1 → XP_054213686.1  adenosylhomocysteinase 3 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HN2.1 GenPept UniProtKB/Swiss-Prot:Q96HN2

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