Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23382
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosylhomocysteinase like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AHCYL2
Synonyms (NCBI Gene) Gene synonyms aliases
ADOHCYASE3, IRBIT2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031640 hsa-miR-16-5p Proteomics 18668040
MIRT049011 hsa-miR-92a-3p CLASH 23622248
MIRT049011 hsa-miR-92a-3p CLASH 23622248
MIRT045346 hsa-miR-185-5p CLASH 23622248
MIRT720356 hsa-miR-670-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004013 Function Adenosylhomocysteinase activity IBA 21873635
GO:0005515 Function Protein binding IPI 19220705
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005829 Component Cytosol IBA 21873635
GO:0006730 Process One-carbon metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616520 22204 ENSG00000158467
Protein
UniProt ID Q96HN2
Protein name Adenosylhomocysteinase 3 (AdoHcyase 3) (EC 3.13.2.1) (IP(3)Rs binding protein released with IP(3) 2) (IRBIT2) (Long-IRBIT) (S-adenosyl-L-homocysteine hydrolase 3) (S-adenosylhomocysteine hydrolase-like protein 2)
Protein 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). {ECO:0000250|Uni
PDB 3GVP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05221 AdoHcyase 185 322 S-adenosyl-L-homocysteine hydrolase Domain
PF05221 AdoHcyase 318 610 S-adenosyl-L-homocysteine hydrolase Domain
PF00670 AdoHcyase_NAD 370 531 S-adenosyl-L-homocysteine hydrolase, NAD binding domain Domain
Sequence
MSVQVVSAAAAAKVPEVELKDLSPSEAESQLGLSTAAVGAMAPPAGGGDPEAPAPAAERP
PVPGPGSGPAAALSPAAGKVPQASAMKRSDPHHQHQRHRDGGEALVSPDGTVTEAPRTVK
KQIQFADQKQEFNKRPTKIGRRSLSRSISQSSTDSYSSAASYTDSSDDETSPRDKQQKNS
KGSSDFCVKNIKQAEFGRREIEIAEQEMPALMALRKRAQGEKPLAGAKIVGCTHITAQTA
VLMETLGALGAQCRWAACNIYSTLNEVAAALAESGFPVFAWKGESEDDFWWCIDRCVNVE
GWQPNMILDDGGDLTHW
IYKKYPNMFKKIKGIVEESVTGVHRLYQLSKAGKLCVPAMNVN
DSVTKQKFDNLYCCRESILDGLKRTTDMMFGGKQVVVCGYGEVGKGCCAALKAMGSIVYV
TEIDPICALQACMDGFRLVKLNEVIRQVDIVITCTGNKNVVTREHLDRMKNSCIVCNMGH
SNTEIDVASLRTPELTWERVRSQVDHVIWPDGKRIVLLAEGRLLNLSCSTV
PTFVLSITA
TTQALALIELYNAPEGRYKQDVYLLPKKMDEYVASLHLPTFDAHLTELTDEQAKYLGLNK
NGPFKPNYYR
Y
Sequence length 611
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways
  Bicarbonate transporters
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 24763052
Unknown
Disease term Disease name Evidence References Source
Dementia Dementia GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cleft Lip Associate 27604992
Colorectal Neoplasms Associate 36691026
Conotruncal cardiac defects Associate 24585533
Heart Defects Congenital Associate 24585533
Ichthyosis prematurity syndrome Associate 29693144
Insulin Resistance Associate 22890011
Meningioma Associate 32596316
Schizophrenia Associate 37552420