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AHCYL2 adenosylhomocysteinase like 2 [ Homo sapiens (human) ]

Gene ID: 23382, updated on 3-Apr-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
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Genomic context

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See AHCYL2 in Genome Data Viewer
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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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

Gene LinkOut

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