LOC102724560 (-)

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Gene Gene ontology Other IDs Pathways Related genes Diseases linked via similar genes

Gene

• Entrez ID: 102724560
• Gene name: -
• Gene symbol: LOC102724560
• Synonyms (NCBI Gene): CBS, CBSL
• Chromosome: 21
• Chromosome location: 21p12

Gene ontology (GO) Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001958	Process	Endochondral ossification	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004122	Function	Cystathionine beta-synthase activity	IBA
GO:0004122	Function	Cystathionine beta-synthase activity	IDA	7929220, 18776696, 19010420, 22985361, 23981774, 24416422
GO:0004122	Function	Cystathionine beta-synthase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 17087506, 21653829, 25416956, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	17087506
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23981774
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	TAS
GO:0006534	Process	Cysteine metabolic process	IEA
GO:0006535	Process	Cysteine biosynthetic process from serine	IBA
GO:0006535	Process	Cysteine biosynthetic process from serine	IEA
GO:0006563	Process	L-serine metabolic process	IDA	19010420
GO:0006565	Process	L-serine catabolic process	IDA	18776696
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009069	Process	Serine family amino acid metabolic process	IEA
GO:0010749	Process	Regulation of nitric oxide mediated signal transduction	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019343	Process	Cysteine biosynthetic process via cystathionine	IEA
GO:0019344	Process	Cysteine biosynthetic process	IDA	24416422
GO:0019344	Process	Cysteine biosynthetic process	IEA
GO:0019344	Process	Cysteine biosynthetic process	IEA
GO:0019346	Process	Transsulfuration	IEA
GO:0019448	Process	L-cysteine catabolic process	IDA	15520012
GO:0019825	Function	Oxygen binding	IDA	24515102
GO:0019899	Function	Enzyme binding	IPI	17087506
GO:0020037	Function	Heme binding	EXP	29410458
GO:0020037	Function	Heme binding	IDA	7929220, 24515102
GO:0020037	Function	Heme binding	IMP	18776696
GO:0021587	Process	Cerebellum morphogenesis	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IDA	7929220, 18776696
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	17087506
GO:0031667	Process	Response to nutrient levels	IEA
GO:0042262	Process	DNA protection	IMP	24534463
GO:0042802	Function	Identical protein binding	IPI	16189514, 19447967, 21900206, 25416956, 25502805, 31515488
GO:0042803	Function	Protein homodimerization activity	IDA	11483494
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043418	Process	Homocysteine catabolic process	IDA	18776696, 24416422
GO:0044272	Process	Sulfur compound biosynthetic process	IEA
GO:0046328	Process	Regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050421	Function	Nitrite reductase (NO-forming) activity	IDA	24416422
GO:0050667	Process	Homocysteine metabolic process	IDA	19010420, 20031578, 23981774
GO:0050667	Process	Homocysteine metabolic process	IEA
GO:0050667	Process	Homocysteine metabolic process	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0070025	Function	Carbon monoxide binding	IDA	24515102
GO:0070026	Function	Nitric oxide binding	IDA	24416422, 24515102
GO:0070814	Process	Hydrogen sulfide biosynthetic process	IDA	15520012, 24416422
GO:0070814	Process	Hydrogen sulfide biosynthetic process	IEA
GO:0070814	Process	Hydrogen sulfide biosynthetic process	ISS
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0072341	Function	Modified amino acid binding	IDA	20031578
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	22985361

Other IDs

• MIM: ENSG00000274276
• HGNC: N/A
• e!Ensembl: N/A

Interactions View interactions

Pathways

KEGG Pathway	Reactome Pathway
Glycine, serine and threonine metabolism	Cysteine formation from homocysteine
Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways
Biosynthesis of amino acids

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CBS 4 shared pathwaysGlycine, serine and threonine metabolism, Cysteine and methionine metabolism, One carbon pool by folate, Biosynthesis of amino acids Related via 4 shared pathways including Glycine, serine and threonine metabolism, Cysteine and methionine metabolism. GNMT 3 shared pathwaysGlycine, serine and threonine metabolism, Cysteine and methionine metabolism, One carbon pool by folate Related via 3 shared pathways including Glycine, serine and threonine metabolism, Cysteine and methionine metabolism. CTH 4 shared pathwaysGlycine, serine and threonine metabolism, Cysteine and methionine metabolism, One carbon pool by folate, Biosynthesis of amino acids Related via 4 shared pathways including Glycine, serine and threonine metabolism, Cysteine and methionine metabolism. PHGDH 3 shared pathwaysGlycine, serine and threonine metabolism, Cysteine and methionine metabolism, Biosynthesis of amino acids Related via 3 shared pathways including Glycine, serine and threonine metabolism, Cysteine and methionine metabolism. MAT2A 3 shared pathwaysCysteine and methionine metabolism, One carbon pool by folate, Biosynthesis of amino acids Related via 3 shared pathways including Cysteine and methionine metabolism, One carbon pool by folate.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CBS	0	[]	4	["Glycine, serine and threonine metabolism","Cysteine and methionine metabolism","One carbon pool by folate","Biosynthesis of amino acids"]	0	[]
GNMT	0	[]	3	["Glycine, serine and threonine metabolism","Cysteine and methionine metabolism","One carbon pool by folate"]	0	[]
CTH	0	[]	4	["Glycine, serine and threonine metabolism","Cysteine and methionine metabolism","One carbon pool by folate","Biosynthesis of amino acids"]	0	[]
PHGDH	0	[]	3	["Glycine, serine and threonine metabolism","Cysteine and methionine metabolism","Biosynthesis of amino acids"]	0	[]
MAT2A	0	[]	3	["Cysteine and methionine metabolism","One carbon pool by folate","Biosynthesis of amino acids"]	0	[]

Diseases Linked via Similar Genes

Melanoma Linked via 3 of 5 related genesCBS, CTH, PHGDH Ischemic heart disease Linked via 2 of 5 related genesCBS, MAT2A Coronary artery disease Linked via 2 of 5 related genesCBS, MAT2A Thoracic aortic aneurysm and aortic dissection Linked via 2 of 5 related genesCBS, MAT2A Hyperhomocysteinemia Linked via 2 of 5 related genesCBS, GNMT

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Melanoma	3	["CBS","CTH","PHGDH"]
Ischemic heart disease	2	["CBS","MAT2A"]
Coronary artery disease	2	["CBS","MAT2A"]
Thoracic aortic aneurysm and aortic dissection	2	["CBS","MAT2A"]
Hyperhomocysteinemia	2	["CBS","GNMT"]