Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1757
Gene name Gene Name - the full gene name approved by the HGNC.
Sarcosine dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SARDH
Synonyms (NCBI Gene) Gene synonyms aliases
BPR-2, DMGDHL1, SAR, SARD, SDH
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulti
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140559739 G>A,C Affects Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs149391396 G>A Affects Non coding transcript variant, stop gained, coding sequence variant
rs149481147 G>A Affects Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs397514504 C>A,T Affects Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion ISS
GO:0005759 Component Mitochondrial matrix IBA 21873635
GO:0005759 Component Mitochondrial matrix TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604455 10536 ENSG00000123453
Protein
UniProt ID Q9UL12
Protein name Sarcosine dehydrogenase, mitochondrial (SarDH) (EC 1.5.8.3) (BPR-2)
Protein function Catalyzes the last step of the oxidative degradation of choline to glycine. Converts sarcosine into glycine.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01266 DAO 68 427 FAD dependent oxidoreductase Domain
PF16350 FAO_M 430 485 FAD dependent oxidoreductase central domain Family
PF01571 GCV_T 488 798 Aminomethyltransferase folate-binding domain Domain
PF08669 GCV_T_C 823 908 Glycine cleavage T-protein C-terminal barrel domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreas, liver and kidney. {ECO:0000269|PubMed:10444331}.
Sequence
MASLSRALRVAAAHPRQSPTRGMGPCNLSSAAGPTAEKSVPYQRTLKEGQGTSVVAQGPS
RPLPSTANVVVIGGGSLGCQTLYHLAKLGMSGAVLLERERLTSGTTWHTAGLLWQLRPSD
VEVELLAHTRRVVSRELEEETGLHTGWIQNGGLFIASNRQRLDEYKRLMSLGKAYGVESH
VLSPAETKTLYPLMNVDDLYGTLYVPHDGTMDPAGTCTTLARAASARGAQVIENCPVTGI
RVWTDDFGVRRVAGVETQHGSIQTPCVVNCAGVWASAVGRMAGVKVPLVAMHHAYVVTER
IEGIQNMPNVRDHDASVYLRLQGDALSVGGYEANPIFWEEVSDKFAFGLFDLDWEVFTQH
IEGAINRVPVLEKTGIKSTVCGPESFTPDHKPLMGEAPELRGFFLGCGFNSAGMMLGGGC
GQELAHW
IIHGRPEKDMHGYDIRRFHHSLTDHPRWIRERSHESYAKNYSVVFPHDEPLAG
RNMRR
DPLHEELLGQGCVFQERHGWERPGWFHPRGPAPVLEYDYYGAYGSRAHEDYAYRR
LLADEYTFAFPPHHDTIKKECLACRGAAAVFDMSYFGKFYLVGLDARKAADWLFSADVSR
PPGSTVYTCMLNHRGGTESDLTVSRLAPSHQASPLAPAFEGDGYYLAMGGAVAQHNWSHI
TTVLQDQKSQCQLIDSSEDLGMISIQGPASRAILQEVLDADLSNEAFPFSTHKLLRAAGH
LVRAMRLSFVGELGWELHIPKASCVPVYRAVMAAGAKHGLINAGYRAIDSLSIEKGYRHW
HADLRPDDSPLEAGLAFT
CKLKSPVPFLGREALEQQRAAGLRRRLVCFTMEDKVPMFGLE
AIWRNGQVVGHVRRADFGFAIDKTIAYGYIHDPSGGPVSLDFVKSGDYALERMGVTYGAQ
AHLKSPFD
PNNKRVKGIY
Sequence length 918
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycine, serine and threonine metabolism
One carbon pool by folate
Metabolic pathways
  Choline catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Optic atrophy Optic Atrophy rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299
View all (37 more)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 24884785
Diabetes Mellitus Type 2 Associate 21423737
Neoplasms Associate 23824605
Obesity Associate 21423737
Prostatic Neoplasms Associate 23824605
Prostatitis Associate 19212411, 30628163