AHCYL2 (adenosylhomocysteinase like 2)

Gene

• Entrez ID: 23382
• Gene name: Adenosylhomocysteinase like 2
• Gene symbol: AHCYL2
• Synonyms (NCBI Gene): ADOHCYASE3, IRBIT2
• Chromosome: 7
• Chromosome location: 7q32.1
• Summary: 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

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
MIRT720355	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT720354	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT720353	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT720352	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT706886	hsa-miR-3976	HITS-CLIP	21572407
MIRT706885	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT706884	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT706882	hsa-miR-3924	HITS-CLIP	21572407
MIRT706883	hsa-miR-1277-3p	HITS-CLIP	21572407
MIRT706881	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559663	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT559662	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT559661	hsa-miR-940	PAR-CLIP	21572407
MIRT559660	hsa-miR-4459	PAR-CLIP	21572407
MIRT559659	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT559658	hsa-miR-665	PAR-CLIP	21572407
MIRT559657	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT559656	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT559655	hsa-miR-4786-5p	PAR-CLIP	21572407
MIRT559654	hsa-miR-769-5p	PAR-CLIP	21572407
MIRT559653	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT559652	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT559651	hsa-miR-1827	PAR-CLIP	21572407
MIRT559650	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT559649	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT559647	hsa-miR-3672	PAR-CLIP	21572407
MIRT559648	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT559646	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT559645	hsa-miR-1273e	PAR-CLIP	21572407
MIRT496880	hsa-miR-6895-5p	PAR-CLIP	22291592
MIRT496879	hsa-miR-4532	PAR-CLIP	22291592
MIRT496878	hsa-miR-6784-3p	PAR-CLIP	22291592
MIRT496877	hsa-miR-6862-3p	PAR-CLIP	22291592
MIRT496876	hsa-miR-3202	PAR-CLIP	22291592
MIRT496875	hsa-miR-4747-5p	PAR-CLIP	22291592
MIRT496874	hsa-miR-5196-5p	PAR-CLIP	22291592
MIRT496873	hsa-miR-4271	PAR-CLIP	22291592
MIRT496872	hsa-miR-4725-3p	PAR-CLIP	22291592
MIRT496871	hsa-miR-6780b-5p	PAR-CLIP	22291592
MIRT482232	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT482230	hsa-miR-3123	PAR-CLIP	23592263
MIRT482229	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT482228	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT482227	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT482226	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT482225	hsa-miR-3185	PAR-CLIP	23592263
MIRT482224	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT482223	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT482222	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT482221	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT482220	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT482219	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT482218	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT482217	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT482216	hsa-miR-4458	PAR-CLIP	23592263
MIRT482215	hsa-miR-4500	PAR-CLIP	23592263
MIRT482214	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT482213	hsa-miR-4434	PAR-CLIP	23592263
MIRT482212	hsa-miR-4516	PAR-CLIP	23592263
MIRT482211	hsa-miR-5703	PAR-CLIP	23592263
MIRT045346	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT482210	hsa-miR-4306	PAR-CLIP	23592263
MIRT482209	hsa-miR-4644	PAR-CLIP	23592263
MIRT482208	hsa-miR-5192	PAR-CLIP	23592263
MIRT482207	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT482206	hsa-miR-3132	PAR-CLIP	23592263
MIRT482205	hsa-miR-4650-3p	PAR-CLIP	23592263
MIRT220345	hsa-miR-4531	PAR-CLIP	23592263
MIRT482204	hsa-miR-1270	PAR-CLIP	23592263
MIRT482203	hsa-miR-620	PAR-CLIP	23592263
MIRT559653	hsa-miR-1225-3p	PAR-CLIP	26701625
MIRT559653	hsa-miR-1225-3p	PAR-CLIP	26701625
MIRT559653	hsa-miR-1225-3p	PAR-CLIP	26701625
MIRT559652	hsa-miR-1233-3p	PAR-CLIP	26701625
MIRT559652	hsa-miR-1233-3p	PAR-CLIP	26701625
MIRT559652	hsa-miR-1233-3p	PAR-CLIP	26701625
MIRT559647	hsa-miR-3672	PAR-CLIP	26701625
MIRT559647	hsa-miR-3672	PAR-CLIP	26701625
MIRT559647	hsa-miR-3672	PAR-CLIP	26701625
MIRT559659	hsa-miR-4433a-3p	PAR-CLIP	26701625
MIRT559659	hsa-miR-4433a-3p	PAR-CLIP	26701625
MIRT559659	hsa-miR-4433a-3p	PAR-CLIP	26701625
MIRT559655	hsa-miR-4786-5p	PAR-CLIP	26701625
MIRT559655	hsa-miR-4786-5p	PAR-CLIP	26701625
MIRT559655	hsa-miR-4786-5p	PAR-CLIP	26701625
MIRT559658	hsa-miR-665	PAR-CLIP	26701625
MIRT559658	hsa-miR-665	PAR-CLIP	26701625
MIRT559658	hsa-miR-665	PAR-CLIP	26701625
MIRT559657	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT559657	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT559657	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT559648	hsa-miR-6864-3p	PAR-CLIP	26701625
MIRT559648	hsa-miR-6864-3p	PAR-CLIP	26701625
MIRT559648	hsa-miR-6864-3p	PAR-CLIP	26701625
MIRT559654	hsa-miR-769-5p	PAR-CLIP	26701625
MIRT559654	hsa-miR-769-5p	PAR-CLIP	26701625
MIRT559654	hsa-miR-769-5p	PAR-CLIP	26701625
MIRT720356	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT720355	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT720354	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT720353	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT720352	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT706886	hsa-miR-3976	HITS-CLIP	21572407
MIRT706885	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT706884	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT706882	hsa-miR-3924	HITS-CLIP	21572407
MIRT706883	hsa-miR-1277-3p	HITS-CLIP	21572407
MIRT706881	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559663	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT559662	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT559661	hsa-miR-940	PAR-CLIP	21572407
MIRT559660	hsa-miR-4459	PAR-CLIP	21572407
MIRT559659	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT559658	hsa-miR-665	PAR-CLIP	21572407
MIRT559657	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT559656	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT559655	hsa-miR-4786-5p	PAR-CLIP	21572407
MIRT559654	hsa-miR-769-5p	PAR-CLIP	21572407
MIRT559653	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT559652	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT559651	hsa-miR-1827	PAR-CLIP	21572407
MIRT559650	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT559649	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT559647	hsa-miR-3672	PAR-CLIP	21572407
MIRT559648	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT559646	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT559645	hsa-miR-1273e	PAR-CLIP	21572407
MIRT496880	hsa-miR-6895-5p	PAR-CLIP	22291592
MIRT496879	hsa-miR-4532	PAR-CLIP	22291592
MIRT496878	hsa-miR-6784-3p	PAR-CLIP	22291592
MIRT496877	hsa-miR-6862-3p	PAR-CLIP	22291592
MIRT496876	hsa-miR-3202	PAR-CLIP	22291592
MIRT496875	hsa-miR-4747-5p	PAR-CLIP	22291592
MIRT496874	hsa-miR-5196-5p	PAR-CLIP	22291592
MIRT496873	hsa-miR-4271	PAR-CLIP	22291592
MIRT496872	hsa-miR-4725-3p	PAR-CLIP	22291592
MIRT496871	hsa-miR-6780b-5p	PAR-CLIP	22291592
MIRT482232	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT482230	hsa-miR-3123	PAR-CLIP	23592263
MIRT482229	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT482228	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT482227	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT482226	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT482225	hsa-miR-3185	PAR-CLIP	23592263
MIRT482224	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT482223	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT482222	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT482221	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT482220	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT482219	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT482218	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT482217	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT482216	hsa-miR-4458	PAR-CLIP	23592263
MIRT482215	hsa-miR-4500	PAR-CLIP	23592263
MIRT482214	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT482213	hsa-miR-4434	PAR-CLIP	23592263
MIRT482212	hsa-miR-4516	PAR-CLIP	23592263
MIRT482211	hsa-miR-5703	PAR-CLIP	23592263
MIRT045346	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT482210	hsa-miR-4306	PAR-CLIP	23592263
MIRT482209	hsa-miR-4644	PAR-CLIP	23592263
MIRT482208	hsa-miR-5192	PAR-CLIP	23592263
MIRT482207	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT482206	hsa-miR-3132	PAR-CLIP	23592263
MIRT482205	hsa-miR-4650-3p	PAR-CLIP	23592263
MIRT220345	hsa-miR-4531	PAR-CLIP	23592263
MIRT482204	hsa-miR-1270	PAR-CLIP	23592263
MIRT482203	hsa-miR-620	PAR-CLIP	23592263
MIRT773480	hsa-miR-1303	CLIP-seq
MIRT773481	hsa-miR-140-3p	CLIP-seq
MIRT773482	hsa-miR-15a	CLIP-seq
MIRT773483	hsa-miR-15b	CLIP-seq
MIRT773484	hsa-miR-16	CLIP-seq
MIRT773485	hsa-miR-195	CLIP-seq
MIRT773486	hsa-miR-3074-3p	CLIP-seq
MIRT773487	hsa-miR-3162-3p	CLIP-seq
MIRT773488	hsa-miR-361-5p	CLIP-seq
MIRT773489	hsa-miR-3657	CLIP-seq
MIRT773490	hsa-miR-3942-5p	CLIP-seq
MIRT773491	hsa-miR-424	CLIP-seq
MIRT773492	hsa-miR-4329	CLIP-seq
MIRT773493	hsa-miR-4663	CLIP-seq
MIRT773494	hsa-miR-4703-5p	CLIP-seq
MIRT773495	hsa-miR-4712-5p	CLIP-seq
MIRT773496	hsa-miR-4738-3p	CLIP-seq
MIRT773497	hsa-miR-4766-5p	CLIP-seq
MIRT773498	hsa-miR-4775	CLIP-seq
MIRT773499	hsa-miR-4797-5p	CLIP-seq
MIRT773500	hsa-miR-497	CLIP-seq
MIRT773501	hsa-miR-539	CLIP-seq
MIRT773502	hsa-miR-548aa	CLIP-seq
MIRT773503	hsa-miR-580	CLIP-seq
MIRT773504	hsa-miR-590-3p	CLIP-seq
MIRT773505	hsa-miR-628-5p	CLIP-seq
MIRT773506	hsa-miR-770-5p	CLIP-seq
MIRT773507	hsa-let-7a	CLIP-seq
MIRT773508	hsa-let-7b	CLIP-seq
MIRT773509	hsa-let-7c	CLIP-seq
MIRT773510	hsa-let-7d	CLIP-seq
MIRT773511	hsa-let-7e	CLIP-seq
MIRT773512	hsa-let-7f	CLIP-seq
MIRT773513	hsa-let-7g	CLIP-seq
MIRT773514	hsa-let-7i	CLIP-seq
MIRT773515	hsa-miR-1233	CLIP-seq
MIRT773516	hsa-miR-1285	CLIP-seq
MIRT773517	hsa-miR-185	CLIP-seq
MIRT773518	hsa-miR-2053	CLIP-seq
MIRT773519	hsa-miR-2392	CLIP-seq
MIRT773520	hsa-miR-3184	CLIP-seq
MIRT773521	hsa-miR-3606	CLIP-seq
MIRT773522	hsa-miR-3612	CLIP-seq
MIRT773523	hsa-miR-371-3p	CLIP-seq
MIRT773524	hsa-miR-371b-3p	CLIP-seq
MIRT773525	hsa-miR-3927	CLIP-seq
MIRT773526	hsa-miR-423-5p	CLIP-seq
MIRT773527	hsa-miR-4299	CLIP-seq
MIRT773528	hsa-miR-4433	CLIP-seq
MIRT773529	hsa-miR-4443	CLIP-seq
MIRT773530	hsa-miR-4451	CLIP-seq
MIRT773531	hsa-miR-4456	CLIP-seq
MIRT773532	hsa-miR-4485	CLIP-seq
MIRT773533	hsa-miR-4694-5p	CLIP-seq
MIRT773534	hsa-miR-4802-5p	CLIP-seq
MIRT773535	hsa-miR-515-3p	CLIP-seq
MIRT773536	hsa-miR-516b	CLIP-seq
MIRT773537	hsa-miR-519e	CLIP-seq
MIRT773538	hsa-miR-526b	CLIP-seq
MIRT773539	hsa-miR-548q	CLIP-seq
MIRT773540	hsa-miR-569	CLIP-seq
MIRT773541	hsa-miR-627	CLIP-seq
MIRT773542	hsa-miR-650	CLIP-seq
MIRT773543	hsa-miR-765	CLIP-seq
MIRT773544	hsa-miR-98	CLIP-seq
MIRT773507	hsa-let-7a	CLIP-seq
MIRT773508	hsa-let-7b	CLIP-seq
MIRT773509	hsa-let-7c	CLIP-seq
MIRT773510	hsa-let-7d	CLIP-seq
MIRT773511	hsa-let-7e	CLIP-seq
MIRT773512	hsa-let-7f	CLIP-seq
MIRT773513	hsa-let-7g	CLIP-seq
MIRT773514	hsa-let-7i	CLIP-seq
MIRT773545	hsa-miR-128	CLIP-seq
MIRT773546	hsa-miR-137	CLIP-seq
MIRT773517	hsa-miR-185	CLIP-seq
MIRT773547	hsa-miR-3161	CLIP-seq
MIRT773487	hsa-miR-3162-3p	CLIP-seq
MIRT773548	hsa-miR-34b	CLIP-seq
MIRT773489	hsa-miR-3657	CLIP-seq
MIRT773549	hsa-miR-374c	CLIP-seq
MIRT773525	hsa-miR-3927	CLIP-seq
MIRT773492	hsa-miR-4329	CLIP-seq
MIRT773529	hsa-miR-4443	CLIP-seq
MIRT773530	hsa-miR-4451	CLIP-seq
MIRT773550	hsa-miR-4659a-3p	CLIP-seq
MIRT773551	hsa-miR-4659b-3p	CLIP-seq
MIRT773493	hsa-miR-4663	CLIP-seq
MIRT773552	hsa-miR-4666-3p	CLIP-seq
MIRT773533	hsa-miR-4694-5p	CLIP-seq
MIRT773553	hsa-miR-4705	CLIP-seq
MIRT773495	hsa-miR-4712-5p	CLIP-seq
MIRT773496	hsa-miR-4738-3p	CLIP-seq
MIRT773497	hsa-miR-4766-5p	CLIP-seq
MIRT773554	hsa-miR-4778-3p	CLIP-seq
MIRT773499	hsa-miR-4797-5p	CLIP-seq
MIRT773555	hsa-miR-515-5p	CLIP-seq
MIRT773538	hsa-miR-526b	CLIP-seq
MIRT773556	hsa-miR-548ag	CLIP-seq
MIRT773557	hsa-miR-548ai	CLIP-seq
MIRT773558	hsa-miR-563	CLIP-seq
MIRT773559	hsa-miR-622	CLIP-seq
MIRT773541	hsa-miR-627	CLIP-seq
MIRT773505	hsa-miR-628-5p	CLIP-seq
MIRT773560	hsa-miR-655	CLIP-seq
MIRT773543	hsa-miR-765	CLIP-seq
MIRT773506	hsa-miR-770-5p	CLIP-seq
MIRT773544	hsa-miR-98	CLIP-seq
MIRT773533	hsa-miR-4694-5p	CLIP-seq
MIRT773538	hsa-miR-526b	CLIP-seq
MIRT773541	hsa-miR-627	CLIP-seq
MIRT773527	hsa-miR-4299	CLIP-seq
MIRT773531	hsa-miR-4456	CLIP-seq
MIRT1928293	hsa-miR-4519	CLIP-seq
MIRT773533	hsa-miR-4694-5p	CLIP-seq
MIRT1928294	hsa-miR-513b	CLIP-seq
MIRT773538	hsa-miR-526b	CLIP-seq
MIRT773502	hsa-miR-548aa	CLIP-seq
MIRT1928295	hsa-miR-548ac	CLIP-seq
MIRT1928296	hsa-miR-548ae	CLIP-seq
MIRT1928297	hsa-miR-548aj	CLIP-seq
MIRT1928298	hsa-miR-548am	CLIP-seq
MIRT1928299	hsa-miR-548d-3p	CLIP-seq
MIRT773539	hsa-miR-548q	CLIP-seq
MIRT1928300	hsa-miR-548x	CLIP-seq
MIRT1928301	hsa-miR-548z	CLIP-seq
MIRT773541	hsa-miR-627	CLIP-seq
MIRT1928302	hsa-miR-873	CLIP-seq
MIRT773496	hsa-miR-4738-3p	CLIP-seq
MIRT773538	hsa-miR-526b	CLIP-seq
MIRT773502	hsa-miR-548aa	CLIP-seq
MIRT773516	hsa-miR-1285	CLIP-seq
MIRT773552	hsa-miR-4666-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004013	Function	Adenosylhomocysteinase activity	IBA
GO:0005515	Function	Protein binding	IPI	19220705
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0033353	Process	S-adenosylmethionine cycle	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA

Other IDs

• MIM: 616520
• HGNC: 22204
• e!Ensembl: 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
  GWQPNMILDDGGDLTHWIYKKYPNMFKKIKGIVEESVTGVHRLYQLSKAGKLCVPAMNVN
  DSVTKQKFDNLYCCRESILDGLKRTTDMMFGGKQVVVCGYGEVGKGCCAALKAMGSIVYV
  TEIDPICALQACMDGFRLVKLNEVIRQVDIVITCTGNKNVVTREHLDRMKNSCIVCNMGH
  SNTEIDVASLRTPELTWERVRSQVDHVIWPDGKRIVLLAEGRLLNLSCSTVPTFVLSITA
  TTQALALIELYNAPEGRYKQDVYLLPKKMDEYVASLHLPTFDAHLTELTDEQAKYLGLNK
  NGPFKPNYYRY

• Sequence length: 611

Pathways

KEGG:

Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways

Reactome:

Bicarbonate transporters

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma	Carcinoma	BEFREE	16865262		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	27604992	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36691026	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	24585533	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	24585533	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22890011	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32596316	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	37552420	Associate	★☆☆☆☆ Found in Text Mining only