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Aliases for AHCYL2 Gene

Aliases for AHCYL2 Gene

  • Adenosylhomocysteinase Like 2 2 3
  • 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-Like 2 3 5
  • Long-IRBIT 3 4
  • EC 3.3.1.1 4 63
  • 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 Metabolism and Sulfur amino acid metabolism. GO annotations related to this gene include NAD binding and adenosylhomocysteinase activity. An important paralog of this gene is AHCYL1.

UniProtKB/Swiss-Prot 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHCYL2 Gene

Genomics for AHCYL2 Gene

Regulatory Elements for AHCYL2 Gene

Promoters for AHCYL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AHCYL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AHCYL2 Gene

Chromosome:
7
Start:
129,225,014 bp from pter
End:
129,430,211 bp from pter
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=Translation N-terminally shortened.; 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

Proteomics data for AHCYL2 Gene at MOPED

Post-translational modifications for AHCYL2 Gene

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

Antibody Products

Domains & Families for AHCYL2 Gene

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

No data available for Gene Families for AHCYL2 Gene

Function for AHCYL2 Gene

Molecular function for AHCYL2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-homocysteine + H(2)O = L-homocysteine + adenosine.
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).

Enzyme Numbers (IUBMB) for AHCYL2 Gene

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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for AHCYL2 Gene COMPARTMENTS Subcellular localization image for AHCYL2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AHCYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

1 GeneGo (Thomson Reuters) pathway 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

None

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 363
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
homocysteine
  • (+-)-homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
  • (S)-2-amino-4-mercapto-Butanoic acid
  • 2-Amino-4-mercapto-Butanoate
  • 2-Amino-4-mercapto-Butanoic acid
454-29-5
Se-Adenosylselenohomocysteine
Selenohomocysteine
  • 2-Amino-4-selanyl-butanoate
  • 2-Amino-4-selanyl-butanoic acid
  • Se-selenocysteine
29412-93-9
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with AHCYL2: view

Transcripts for AHCYL2 Gene

Unigene Clusters for AHCYL2 Gene

Adenosylhomocysteinase-like 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
AHCYL2

Expression for AHCYL2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for AHCYL2 Gene



SOURCE GeneReport for Unigene cluster for AHCYL2 Gene Hs.600789

genes like me logo Genes that share expression patterns with AHCYL2: view

Protein tissue co-expression partners for AHCYL2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.67 (n)
  • 99.84 (a)
AHCYL2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AHCYL2 36
  • 99 (a)
OneToOne
AHCYL2 35
  • 93.34 (n)
  • 99.18 (a)
dog
(Canis familiaris)
Mammalia AHCYL2 35
  • 95.08 (n)
  • 99.51 (a)
AHCYL2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahcyl2 16
Ahcyl2 35
  • 91.38 (n)
  • 97.87 (a)
Ahcyl2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AHCYL2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahcyl2 35
  • 92.02 (n)
  • 97.7 (a)
chicken
(Gallus gallus)
Aves AHCYL2 36
  • 98 (a)
OneToOne
AHCYL2 35
  • 80.87 (n)
  • 95.2 (a)
lizard
(Anolis carolinensis)
Reptilia AHCYL2 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahcyl2 35
  • 76.87 (n)
  • 90.14 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
ahcyl2 35
  • 76.76 (n)
  • 87.14 (a)
ahcyl2 36
  • 88 (a)
OneToMany
AHCYL2 (2 of 2) 36
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ahcy89E 36
  • 68 (a)
ManyToMany
CG9977 36
  • 74 (a)
ManyToMany
Ahcy89E 35
  • 67.78 (n)
  • 73.94 (a)
worm
(Caenorhabditis elegans)
Secernentea ahcy-1 36
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAH1 36
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10842 36
  • 68 (a)
OneToMany
Species with no ortholog for AHCYL2:
  • 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)

Paralogs for AHCYL2 Gene

Paralogs for AHCYL2 Gene

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

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

Variants for AHCYL2 Gene

Sequence variations from dbSNP and Humsavar for AHCYL2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs891545 -- 129,226,775(+) ATTAG(A/C)GTAGA intron-variant
rs972568 -- 129,384,644(-) GAGAC(A/G)AGGCT intron-variant
rs1405475 -- 129,316,569(-) CAAGA(C/T)CAAAA intron-variant
rs1469554 -- 129,228,318(+) AAGGG(A/G)AATAA intron-variant
rs1559486 -- 129,376,053(-) GAGGG(A/G)TAGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831127 CNV Gain 17160897
nsv525482 CNV Loss 19592680
nsv516498 CNV Gain 19592680
esv2735148 CNV Deletion 23290073
nsv831128 CNV Gain 17160897
esv2559463 CNV Insertion 19546169
esv273568 CNV Insertion 20981092
esv268220 CNV Insertion 20981092

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)

Relevant External Links for AHCYL2 Gene

HapMap Linkage Disequilibrium report
AHCYL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHCYL2 Gene

Disorders for AHCYL2 Gene

Relevant External Links for AHCYL2

Genetic Association Database (GAD)
AHCYL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 D.K. (Pharmacogenet. Genomics 2012) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PMID: 23455922) Varjosalo M. … Superti-Furga G. (Nat. Methods 2013) 3
  5. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3

Products for AHCYL2 Gene

Sources for AHCYL2 Gene

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