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] See more...

Aliases for AHCYL2 Gene

Aliases for AHCYL2 Gene

  • Adenosylhomocysteinase Like 2 2 3 5
  • IP(3)Rs Binding Protein Released With IP(3) 2 3 4
  • S-Adenosylhomocysteine Hydrolase-Like 2 2 3
  • S-Adenosyl-L-Homocysteine Hydrolase 3 3 4
  • Adenosylhomocysteinase 3 3 4
  • Long-IRBIT 3 4
  • EC 3.3.1.1 4 52
  • IRBIT2 3 4
  • S-Adenosylhomocysteine Hydrolase-Like Protein 2 4
  • Putative Adenosylhomocysteinase 3 3
  • AdoHcyase 3 4
  • ADOHCYASE3 3
  • KIAA0828 4

External Ids for AHCYL2 Gene

Previous GeneCards Identifiers for AHCYL2 Gene

  • GC07P128653
  • GC07P128865
  • GC07P123225

Summaries for AHCYL2 Gene

Entrez Gene Summary for AHCYL2 Gene

  • 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]

GeneCards Summary for AHCYL2 Gene

AHCYL2 (Adenosylhomocysteinase Like 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and One carbon pool by folate. Gene Ontology (GO) annotations related to this gene include NAD binding and adenosylhomocysteinase activity. An important paralog of this gene is AHCYL1.

UniProtKB/Swiss-Prot Summary for AHCYL2 Gene

  • May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705).

Additional gene information for AHCYL2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHCYL2 Gene

Genomics for AHCYL2 Gene

GeneHancer (GH) Regulatory Elements for AHCYL2 Gene

Promoters and enhancers for AHCYL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHCYL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHCYL2

Top Transcription factor binding sites by QIAGEN in the AHCYL2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • Cart-1
  • RelA
  • RP58
  • SRY

Genomic Locations for AHCYL2 Gene

Genomic Locations for AHCYL2 Gene
chr7:129,225,014-129,430,211
(GRCh38/hg38)
Size:
205,198 bases
Orientation:
Plus strand
chr7:128,864,855-129,070,052
(GRCh37/hg19)
Size:
205,198 bases
Orientation:
Plus strand

Genomic View for AHCYL2 Gene

Genes around AHCYL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHCYL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHCYL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHCYL2 Gene

Proteins for AHCYL2 Gene

  • Protein details for AHCYL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HN2-SAHH3_HUMAN
    Recommended name:
    Adenosylhomocysteinase 3
    Protein Accession:
    Q96HN2
    Secondary Accessions:
    • B4DIZ5
    • D9N155
    • O94917

    Protein attributes for AHCYL2 Gene

    Size:
    611 amino acids
    Molecular mass:
    66721 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    • Homotetramer (Probable). Forms heteromultimers with AHCYL1 (via the C-terminal region) (PubMed:19220705). Interacts with ITPR1; with lower affinity than AHCYL1 and maybe via ITPR1 (PubMed:19220705). Interacts with SLC4A4 (By similarity).
    SequenceCaution:
    • Sequence=BAA74851.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AHCYL2 Gene

    Alternative splice isoforms for AHCYL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHCYL2 Gene

Selected DME Specific Peptides for AHCYL2 Gene

Q96HN2:
  • GRRSLSRSISQSSTDSYSSAASYTDSSDDE
  • ALGAQCRW
  • TQALALIEL
  • FGRREIEIAE
  • MFGGKQVVVCGYGEVGKGCCAALKA
  • GIVEESVTGVHRLY
  • KNGPFKPN
  • LTELTDEQ
  • VFAWKGE
  • LRKRAQGEKPLAGAKIVGCTHITAQTAVL
  • LDDGGDLT
  • TPELTWERVRSQVDH
  • QACMDGF
  • NMILDDGGD
  • NVNDSVTK
  • DPICALQA
  • EIDPICA
  • QAKYLGL
  • DVYLLPKKMDEYVASLHL
  • ACNIYST
  • VKLNEVIRQVD

Post-translational modifications for AHCYL2 Gene

  • Phosphorylated during neuronal differentiation at the LISN domain.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for AHCYL2

Domains & Families for AHCYL2 Gene

Gene Families for AHCYL2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AHCYL2 Gene

Suggested Antigen Peptide Sequences for AHCYL2 Gene

GenScript: Design optimal peptide antigens:
  • Adenosylhomocysteinase (B4DIZ5_HUMAN)
  • Adenosylhomocysteinase (D7UEQ7_HUMAN)
  • Adenosylhomocysteinase (D9N155_HUMAN)
  • S-adenosylhomocysteine hydrolase-like protein 2 (SAHH3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96HN2

UniProtKB/Swiss-Prot:

SAHH3_HUMAN :
  • Belongs to the adenosylhomocysteinase family.
Family:
  • Belongs to the adenosylhomocysteinase family.
genes like me logo Genes that share domains with AHCYL2: view

Function for AHCYL2 Gene

Molecular function for AHCYL2 Gene

UniProtKB/Swiss-Prot Function:
May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + S-adenosyl-L-homocysteine = adenosine + L-homocysteine; Xref=Rhea:RHEA:21708, ChEBI:CHEBI:15377, ChEBI:CHEBI:16335, ChEBI:CHEBI:57856, ChEBI:CHEBI:58199; EC=3.3.1.1;.

Enzyme Numbers (IUBMB) for AHCYL2 Gene

Phenotypes From GWAS Catalog for AHCYL2 Gene

Gene Ontology (GO) - Molecular Function for AHCYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004013 NOT adenosylhomocysteinase activity IBA 21873635
GO:0005515 protein binding IPI 19220705
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with AHCYL2: view
genes like me logo Genes that share phenotypes with AHCYL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AHCYL2

CRISPR Products

miRNA for AHCYL2 Gene

miRTarBase miRNAs that target AHCYL2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AHCYL2 Gene

Localization for AHCYL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHCYL2 Gene

Cytoplasm. Microsome. Note=Associates with membranes when phosphorylated, probably through interaction with ITPR1. {ECO:0000250 UniProtKB:Q68FL4}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHCYL2 gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 3
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AHCYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IBA 21873635
GO:0043005 neuron projection IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with AHCYL2: view

Pathways & Interactions for AHCYL2 Gene

genes like me logo Genes that share pathways with AHCYL2: view

Pathways by source for AHCYL2 Gene

UniProtKB/Swiss-Prot Q96HN2-SAHH3_HUMAN

  • Pathway: Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1.

Gene Ontology (GO) - Biological Process for AHCYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
GO:0033353 S-adenosylmethionine cycle IBA 21873635
genes like me logo Genes that share ontologies with AHCYL2: view

No data available for SIGNOR curated interactions for AHCYL2 Gene

Drugs & Compounds for AHCYL2 Gene

(4) Drugs for AHCYL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 642
Water Approved Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0
s-adenosylhomocysteine Experimental Pharma 0

(4) Additional Compounds for AHCYL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
homocysteine
  • 2-amino-4-Mercaptobutyric acid
  • Hcy
  • 2-amino-4-Mercaptobutyrate
  • (+-)-Homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
454-29-5
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
Se-Adenosylselenohomocysteine
Selenohomocysteine
  • 2-amino-4-Selanyl-butanoate
  • 2-amino-4-Selanyl-butanoic acid
  • Se-selenocysteine
29412-93-9
genes like me logo Genes that share compounds with AHCYL2: view

Transcripts for AHCYL2 Gene

mRNA/cDNA for AHCYL2 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AHCYL2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4:
SP5:
SP6: - - -
SP7: - - - - - -

ExUns: 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for AHCYL2 Gene

GeneLoc Exon Structure for
AHCYL2

Expression for AHCYL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AHCYL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AHCYL2 Gene

This gene is overexpressed in Colon - Transverse (x4.9).

Protein differential expression in normal tissues from HIPED for AHCYL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.4), Brain (10.7), and Frontal cortex (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AHCYL2 Gene



Protein tissue co-expression partners for AHCYL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHCYL2

SOURCE GeneReport for Unigene cluster for AHCYL2 Gene:

Hs.600789

Evidence on tissue expression from TISSUES for AHCYL2 Gene

  • Nervous system(4.7)
  • Intestine(4.4)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with AHCYL2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AHCYL2 Gene

Orthologs for AHCYL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AHCYL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHCYL2 31 30
  • 99.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 93 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AHCYL2 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHCYL2 31 30
  • 95.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AHCYL2 31 30
  • 93.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahcyl2 30
  • 92.02 (n)
mouse
(Mus musculus)
Mammalia Ahcyl2 17 31 30
  • 91.38 (n)
chicken
(Gallus gallus)
Aves AHCYL2 31 30
  • 80.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHCYL2 31
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahcyl2 30
  • 76.87 (n)
zebrafish
(Danio rerio)
Actinopterygii AHCYL2 (2 of 2) 31
  • 78 (a)
OneToMany
ahcyl2 31 30
  • 76.76 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG9977 31
  • 74 (a)
ManyToMany
Ahcy89E 31 30
  • 67.78 (n)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ahcy-1 31
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAH1 31
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10842 31
  • 68 (a)
OneToMany
Species where no ortholog for AHCYL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AHCYL2 Gene

ENSEMBL:
Gene Tree for AHCYL2 (if available)
TreeFam:
Gene Tree for AHCYL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AHCYL2: view image

Paralogs for AHCYL2 Gene

Paralogs for AHCYL2 Gene

(2) SIMAP similar genes for AHCYL2 Gene using alignment to 6 proteins:

  • SAHH3_HUMAN
  • C9JZV7_HUMAN
  • C9K0S0_HUMAN
  • D7UEQ7_HUMAN
  • F8W7N8_HUMAN
  • H0Y8B3_HUMAN
genes like me logo Genes that share paralogs with AHCYL2: view

Variants for AHCYL2 Gene

Additional dbSNP identifiers (rs#s) for AHCYL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AHCYL2 Gene

Variant ID Type Subtype PubMed ID
esv2559463 CNV insertion 19546169
esv2735148 CNV deletion 23290073
esv3303941 CNV mobile element insertion 20981092
esv3309295 CNV mobile element insertion 20981092
esv3323690 CNV insertion 20981092
esv3360967 CNV insertion 20981092
esv3378957 CNV insertion 20981092
esv3438819 CNV insertion 20981092
esv3572137 CNV loss 25503493
esv3614996 CNV loss 21293372
nsv472654 CNV novel sequence insertion 20440878
nsv516498 CNV gain 19592680
nsv525482 CNV loss 19592680
nsv608419 CNV loss 21841781
nsv831127 CNV gain 17160897
nsv831128 CNV gain 17160897

Variation tolerance for AHCYL2 Gene

Residual Variation Intolerance Score: 19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AHCYL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHCYL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHCYL2 Gene

Disorders for AHCYL2 Gene

Additional Disease Information for AHCYL2

No disorders were found for AHCYL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AHCYL2 Gene

Publications for AHCYL2 Gene

  1. AHCYL2 (long-IRBIT) as a potential regulator of the electrogenic Na(+)-HCO3(-) cotransporter NBCe1-B. (PMID: 24472682) Yamaguchi S … Ishikawa T (FEBS letters 2014) 2 3 54
  2. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. (PMID: 22228203) Aslibekyan S … Arnett DK (Pharmacogenetics and genomics 2012) 3 41 54
  3. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. (PMID: 20694014) Thye T … Hill AVS (Nature genetics 2010) 3 41 54
  4. An IRBIT homologue lacks binding activity to inositol 1,4,5-trisphosphate receptor due to the unique N-terminal appendage. (PMID: 19220705) Ando H … Mikoshiba K (Journal of neurochemistry 2009) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for AHCYL2 Gene

Sources for AHCYL2 Gene