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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
  • Long-IRBIT 3 4
  • EC 3.3.1.1 4 61
  • IRBIT2 3 4
  • S-Adenosylhomocysteine Hydrolase-Like Protein 2 4
  • Putative Adenosylhomocysteinase 3 3
  • 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. 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 CIViC summary , 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

Enhancers for AHCYL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G129258 1 Ensembl ENCODE 26.9 +34.3 34290 1.9 ZNF211 CBX3 MAX CHD7 ZBTB7B POLR2A SCRT2 ZNF26 ZNF600 NFE2 AHCYL2 ENSG00000243230 ENSG00000272601 RBM28 ENSG00000271553 GC07M129240 GC07M129239
GH07G129401 1.6 FANTOM5 Ensembl ENCODE 13.8 +176.8 176758 1.5 HDGF PKNOX1 ATF1 SIN3A TCF12 ZNF766 GATA2 FOS JUNB REST AHCYL2 STRIP2 RNU7-16P GC07M129358
GH07G129221 1.2 Ensembl ENCODE 15.1 -2.8 -2839 1.0 HDGF ATF1 CREB3L1 MLX DMAP1 ZNF2 ZNF143 FOS YY2 REST AHCYL2 ENSG00000273270 STRIP2 ENSG00000243230
GH07G129122 1.5 FANTOM5 ENCODE dbSUPER 10.6 -102.2 -102189 1.6 TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 YBX1 CBX5 ZNF207 RCOR1 RELB TNPO3 TSPAN33 ENSG00000242162 TPI1P2 ENSG00000243230 AHCYL2 ATP6V1F NRF1 CYCSP20 LOC407835
GH07G129438 1.6 Ensembl ENCODE dbSUPER 9.9 +214.1 214148 2.1 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT ZNF766 FOS KLF13 JUNB RNU7-16P AHCYL2 ENSG00000243230 SMKR1 STRIP2 GC07P129440
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AHCYL2 on UCSC Golden Path with GeneCards custom track

Promoters for AHCYL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000217839 386 2401 HDGF PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1

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

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 diffrentiation at the LISN domain.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Gene Ontology (GO) - Molecular Function for AHCYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004013 NOT adenosylhomocysteinase activity IBA --
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

Inhibitory RNA 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 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:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IBA --
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

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 --
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

(5) Drugs for AHCYL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist 419
Water Approved Pharma 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0

(3) 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
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:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
AHCYL2

Expression for AHCYL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AHCYL2 Gene



Protein tissue co-expression partners for AHCYL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AHCYL2 Gene:

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

Primer Products

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 35 34
  • 99.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AHCYL2 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHCYL2 34 35
  • 95.08 (n)
cow
(Bos Taurus)
Mammalia AHCYL2 34 35
  • 93.34 (n)
rat
(Rattus norvegicus)
Mammalia Ahcyl2 34
  • 92.02 (n)
mouse
(Mus musculus)
Mammalia Ahcyl2 34 16 35
  • 91.38 (n)
chicken
(Gallus gallus)
Aves AHCYL2 34 35
  • 80.87 (n)
lizard
(Anolis carolinensis)
Reptilia AHCYL2 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahcyl2 34
  • 76.87 (n)
zebrafish
(Danio rerio)
Actinopterygii AHCYL2 (2 of 2) 35
  • 78 (a)
OneToMany
ahcyl2 34 35
  • 76.76 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG9977 35
  • 74 (a)
ManyToMany
Ahcy89E 34 35
  • 67.78 (n)
worm
(Caenorhabditis elegans)
Secernentea ahcy-1 35
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAH1 35
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10842 35
  • 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)

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
rs1000012187 -- 129,249,672(+) CACCC(A/G)CCTCG intron-variant
rs1000020343 -- 129,290,468(+) TGCAC(C/T)CCAGC intron-variant
rs1000041003 -- 129,407,247(+) CTTGG(A/G)AGGCT intron-variant
rs1000045756 -- 129,353,442(+) TATCA(C/T)CTTAA intron-variant
rs1000055915 -- 129,344,920(+) GAGGC(C/T)GAGGC intron-variant

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)

Relevant External Links for AHCYL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 46 64
  2. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. (PMID: 20694014) Thye T. … Hill A.V. (Nat. Genet. 2010) 3 46 64
  3. 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. (J. Neurochem. 2009) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4 64

Products for AHCYL2 Gene

Sources for AHCYL2 Gene

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