|
Gene id |
875 |
| Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CBS Gene UCSC Ensembl |
|
Aliases |
HIP4 |
|
Gene name |
cystathionine-beta-synthase |
|
Alternate names |
cystathionine beta-synthase, beta-thionase, methylcysteine synthase, serine sulfhydrase, |
|
Gene location |
21q22.3 (43076860: 43053189) Exons: 24 NC_000021.9
|
|
Gene summary(Entrez) |
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal
|
|
OMIM |
613381 |
SNPs |
rs587777427
Strand: Allele origin: Allele change: Mutation type: snv
NC_000018.10 g.26293530C>A
NC_000018.10 g.26293530C>T
NC_000018.9 g.23873494C>A
NC_000018.9 g.23873494C>T
NG_034162.1 g.71648C>A
NG_034162.1 g.71648C>T
NM_005640.3 c.1831C>A
NM_005640.3 c.1831C>T
NM_005640.2 c.1831C>A
NM_005640.2 c.1831C>T
NM_005640.
rs1677016
Strand: Allele origin: Allele change: Mutation type: snv
NC_000018.10 g.26293499T>A
NC_000018.10 g.26293499T>C
NC_000018.10 g.26293499T>G
NC_000018.9 g.23873463T>A
NC_000018.9 g.23873463T>C
NC_000018.9 g.23873463T>G
NG_034162.1 g.71617T>A
NG_034162.1 g.71617T>C
NG_034162.1 g.71617T>G
NM_005640.3 c.1800T>A
|
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa01100 | Metabolic pathways | | hsa01230 | Biosynthesis of amino acids | |
|
| Associated diseases |
References |
| Cancer | GAD: 17891500 |
| Cancer (Adenocarcinoma) | GAD: 20056620 |
| Cancer (bladder) | GAD: 17311259 |
| Cancer (brain) | GAD: 18447718 |
| Cancer (Central nervous system) | GAD: 20237949 |
| Cancer (colorectal) | GAD: 12020105 |
| Cancer (esophageal) | GAD: 20453000 |
| Cancer (lung) | GAD: 15922487 |
| Cancer (lymphoma) | GAD: 17891500 |
| Cancer (prostate) | GAD: 19064578 |
| Cancer (prostate) | GAD: 11074524 |
| Cancer (Squamous cell) | GAD: 17726616 |
| Cancer (breast) | GAD: 12154064 |
| Aneurysm | GAD: 18635682 |
| Apoplexy | GAD: 20458436 |
| Atherosclerosis | GAD: 10399104 |
| Brain ischemia | GAD: 19166826 |
| Hypertension | GAD: 18622257 |
| Cardiovascular disease | GAD: 11341749 |
| Cerebrovascular disease | GAD: 12439143 |
| Congenital heart defects | GAD: 17319270 |
| Intracranial aneurysm | GAD: 18799873 |
| Restenosis | GAD: 12082592 |
| Thrombosis | GAD: 12413583 |
| Venous thrombosis | GAD: 20890573 |
| Brain infarction | GAD: 11758232 |
| Congenital abnormalities | GAD: 20031554 |
| Hyperhomocysteinemia | GAD: 12015064 |
| Spinal dysraphism | GAD: 19161160 |
| Down syndrome | GAD: 16115349 |
| Homocystinuria | GAD: 7611293 |
| Homocystinuria | GAD: 11748855 |
| Neural tube defects | GAD: 12725044 |
| Cleft defects | GAD: 16007597 |
| Cleft defects | GAD: 18203168 |
| Exfoliation syndrome | GAD: 19112534 |
| Obesity | GAD: 17993766 |
| Diabetes | GAD: 19267073 |
| Mental retardation | GAD: 16375773 |
| Chronic progressive chorea | GAD: 15354395 |
| Stroke | GAD: 15009965 |
| Alzheimer's disease | GAD: 15975077 |
| Parkinson disease | GAD: 19452554 |
| Huntington's disease | GAD: 15354395 |
| Cerebral palsy | GAD: 18977990 |
| Mental disorder | GAD: 16375773 |
| Schizophrenia | GAD: 19906435 |
| Chronic renal failure | GAD: 21085059 |
| Unexplained azoospermia | MIK: 19657388 |
| Oligozoospermia | MIK: 19657388 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Connective tissue diseases | GAD: 19527514 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
| Azoospermia | MIK: 19657388 |
| Oligozoospermia | MIK: 19657388 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19657388 |
Unexplaine
d azoosper
mia, oligo
zoospermia
|
MTHFR (R68Q, A222V and E429A), MTRR; (I22M and S175L), CBS; G307S |
French
|
366 (70 unexpla
ined azoospermi
a, 182 oligozoo
spermia, 114 no
rmospermic and
fertile men )
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|