ABCC1 (ATP binding cassette subfamily C member 1 (ABCC1 blood group))

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4363
• Gene name: ATP binding cassette subfamily C member 1 (ABCC1 blood group)
• Gene symbol: ABCC1
• Synonyms (NCBI Gene): ABC29, ABCC, DFNA77, GS-X, MRP, MRP1
• Chromosome: 16
• Chromosome location: 16p13.11
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MD

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs60782127	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

miRNA Show/Hide all (202)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004494	hsa-miR-134-5p	qRT-PCR, Western blot, Northern blot	20371173
MIRT003199	hsa-miR-7-5p	Luciferase reporter assay, Western blot	20099276
MIRT003199	hsa-miR-7-5p	Luciferase reporter assay, Western blot	20099276
MIRT003198	hsa-miR-345-5p	Luciferase reporter assay, Western blot	20099276
MIRT003198	hsa-miR-345-5p	Luciferase reporter assay, Western blot	20099276
MIRT021440	hsa-miR-9-5p	Microarray	17612493
MIRT024051	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT003199	hsa-miR-7-5p	Microarray	19073608
MIRT027818	hsa-miR-98-5p	Microarray	19088304
MIRT032483	hsa-let-7b-5p	Proteomics	18668040
MIRT051224	hsa-miR-16-5p	CLASH	23622248
MIRT046316	hsa-miR-23b-3p	CLASH	23622248
MIRT046005	hsa-miR-125b-5p	CLASH	23622248
MIRT042744	hsa-miR-339-5p	CLASH	23622248
MIRT040354	hsa-miR-615-3p	CLASH	23622248
MIRT053213	hsa-miR-1291	Luciferase reporter assay, Western blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assay, Western blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assay, Western blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assay, Western blot	23686318
MIRT706013	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT706012	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT706011	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT706008	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT706009	hsa-miR-5582-3p	HITS-CLIP	23313552
MIRT706007	hsa-miR-1323	HITS-CLIP	23313552
MIRT706006	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT706005	hsa-miR-1825	HITS-CLIP	23313552
MIRT706004	hsa-miR-361-3p	HITS-CLIP	23313552
MIRT706003	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT706002	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT706001	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	Luciferase reporter assay	25354783
MIRT021440	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	28098912
MIRT021440	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	28098912
MIRT003199	hsa-miR-7-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	26108539
MIRT734736	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31750616
MIRT706013	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT706012	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT706011	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT706008	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT706009	hsa-miR-5582-3p	HITS-CLIP	23313552
MIRT706007	hsa-miR-1323	HITS-CLIP	23313552
MIRT706006	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT706005	hsa-miR-1825	HITS-CLIP	23313552
MIRT706004	hsa-miR-361-3p	HITS-CLIP	23313552
MIRT706003	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT706002	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT706001	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT755758	hsa-miR-1254	Western blotting, qRT-PCR	37190912
MIRT758296	hsa-miR-145	CLIP-seq
MIRT758297	hsa-miR-149	CLIP-seq
MIRT758298	hsa-miR-2116	CLIP-seq
MIRT758299	hsa-miR-217	CLIP-seq
MIRT758300	hsa-miR-219-5p	CLIP-seq
MIRT758301	hsa-miR-224	CLIP-seq
MIRT758302	hsa-miR-3064-5p	CLIP-seq
MIRT758303	hsa-miR-409-3p	CLIP-seq
MIRT758304	hsa-miR-4273	CLIP-seq
MIRT758305	hsa-miR-4297	CLIP-seq
MIRT758306	hsa-miR-4310	CLIP-seq
MIRT758307	hsa-miR-4418	CLIP-seq
MIRT758308	hsa-miR-4445	CLIP-seq
MIRT758309	hsa-miR-4661-3p	CLIP-seq
MIRT758310	hsa-miR-4677-5p	CLIP-seq
MIRT758311	hsa-miR-4782-3p	CLIP-seq
MIRT758312	hsa-miR-4794	CLIP-seq
MIRT758313	hsa-miR-508-3p	CLIP-seq
MIRT758314	hsa-miR-509-3-5p	CLIP-seq
MIRT758315	hsa-miR-509-5p	CLIP-seq
MIRT758316	hsa-miR-600	CLIP-seq
MIRT758317	hsa-miR-604	CLIP-seq
MIRT758318	hsa-miR-647	CLIP-seq
MIRT758319	hsa-miR-653	CLIP-seq
MIRT758320	hsa-miR-1231	CLIP-seq
MIRT758321	hsa-miR-1265	CLIP-seq
MIRT758322	hsa-miR-1912	CLIP-seq
MIRT758323	hsa-miR-2052	CLIP-seq
MIRT758324	hsa-miR-3173-5p	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT758326	hsa-miR-323b-5p	CLIP-seq
MIRT758327	hsa-miR-326	CLIP-seq
MIRT758328	hsa-miR-330-5p	CLIP-seq
MIRT758329	hsa-miR-4256	CLIP-seq
MIRT758330	hsa-miR-4277	CLIP-seq
MIRT758331	hsa-miR-4288	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758333	hsa-miR-4307	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT758336	hsa-miR-4720-5p	CLIP-seq
MIRT758337	hsa-miR-4747-3p	CLIP-seq
MIRT758338	hsa-miR-4799-3p	CLIP-seq
MIRT758339	hsa-miR-629	CLIP-seq
MIRT758340	hsa-miR-632	CLIP-seq
MIRT758341	hsa-miR-659	CLIP-seq
MIRT758342	hsa-miR-877	CLIP-seq
MIRT1923652	hsa-miR-1292	CLIP-seq
MIRT1923653	hsa-miR-141	CLIP-seq
MIRT1923654	hsa-miR-200a	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT1923655	hsa-miR-345	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT1923656	hsa-miR-4471	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT1923657	hsa-miR-4640-5p	CLIP-seq
MIRT1923658	hsa-miR-4726-5p	CLIP-seq
MIRT1923659	hsa-miR-4755-3p	CLIP-seq
MIRT1923660	hsa-miR-541	CLIP-seq
MIRT1923661	hsa-miR-654-5p	CLIP-seq
MIRT758318	hsa-miR-647	CLIP-seq
MIRT2165168	hsa-miR-101	CLIP-seq
MIRT1923653	hsa-miR-141	CLIP-seq
MIRT1923654	hsa-miR-200a	CLIP-seq
MIRT2165169	hsa-miR-29a	CLIP-seq
MIRT2165170	hsa-miR-29b	CLIP-seq
MIRT2165171	hsa-miR-29c	CLIP-seq
MIRT2165172	hsa-miR-3605-3p	CLIP-seq
MIRT2165173	hsa-miR-3918	CLIP-seq
MIRT2165174	hsa-miR-4529-5p	CLIP-seq
MIRT2165175	hsa-miR-4645-5p	CLIP-seq
MIRT2165176	hsa-miR-4673	CLIP-seq
MIRT2165177	hsa-miR-4699-3p	CLIP-seq
MIRT2165178	hsa-miR-4705	CLIP-seq
MIRT2165179	hsa-miR-4707-5p	CLIP-seq
MIRT2165180	hsa-miR-4713-5p	CLIP-seq
MIRT2165181	hsa-miR-4733-3p	CLIP-seq
MIRT2165182	hsa-miR-4747-5p	CLIP-seq
MIRT1923660	hsa-miR-541	CLIP-seq
MIRT1923661	hsa-miR-654-5p	CLIP-seq
MIRT2165183	hsa-miR-889	CLIP-seq
MIRT2383744	hsa-miR-1207-5p	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2383746	hsa-miR-1909	CLIP-seq
MIRT2383747	hsa-miR-3144-5p	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT2383748	hsa-miR-3188	CLIP-seq
MIRT1923655	hsa-miR-345	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT2383749	hsa-miR-4514	CLIP-seq
MIRT2165175	hsa-miR-4645-5p	CLIP-seq
MIRT2165176	hsa-miR-4673	CLIP-seq
MIRT2383750	hsa-miR-4692	CLIP-seq
MIRT2383751	hsa-miR-4763-3p	CLIP-seq
MIRT2383752	hsa-miR-940	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467031	hsa-miR-1	CLIP-seq
MIRT2165168	hsa-miR-101	CLIP-seq
MIRT2467032	hsa-miR-1229	CLIP-seq
MIRT2467033	hsa-miR-1297	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2467034	hsa-miR-146a	CLIP-seq
MIRT2467035	hsa-miR-146b-5p	CLIP-seq
MIRT2467036	hsa-miR-206	CLIP-seq
MIRT2467037	hsa-miR-2467-3p	CLIP-seq
MIRT2467038	hsa-miR-26a	CLIP-seq
MIRT2467039	hsa-miR-26b	CLIP-seq
MIRT2467040	hsa-miR-3074-5p	CLIP-seq
MIRT2467041	hsa-miR-3136-3p	CLIP-seq
MIRT2467042	hsa-miR-3176	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2467043	hsa-miR-3672	CLIP-seq
MIRT2467044	hsa-miR-3678-3p	CLIP-seq
MIRT2467045	hsa-miR-3682-5p	CLIP-seq
MIRT2467046	hsa-miR-3922-3p	CLIP-seq
MIRT2467047	hsa-miR-3938	CLIP-seq
MIRT2467048	hsa-miR-4459	CLIP-seq
MIRT2467049	hsa-miR-4465	CLIP-seq
MIRT2467050	hsa-miR-4540	CLIP-seq
MIRT2467051	hsa-miR-4646-5p	CLIP-seq
MIRT2467052	hsa-miR-4649-5p	CLIP-seq
MIRT2467053	hsa-miR-4690-3p	CLIP-seq
MIRT2467054	hsa-miR-485-5p	CLIP-seq
MIRT2467055	hsa-miR-548ad	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467056	hsa-miR-607	CLIP-seq
MIRT2467057	hsa-miR-613	CLIP-seq
MIRT2467058	hsa-miR-665	CLIP-seq
MIRT2467031	hsa-miR-1	CLIP-seq
MIRT2467032	hsa-miR-1229	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2467036	hsa-miR-206	CLIP-seq
MIRT2467040	hsa-miR-3074-5p	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2467045	hsa-miR-3682-5p	CLIP-seq
MIRT2467048	hsa-miR-4459	CLIP-seq
MIRT2467050	hsa-miR-4540	CLIP-seq
MIRT2467051	hsa-miR-4646-5p	CLIP-seq
MIRT2467052	hsa-miR-4649-5p	CLIP-seq
MIRT2467053	hsa-miR-4690-3p	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467056	hsa-miR-607	CLIP-seq
MIRT2467057	hsa-miR-613	CLIP-seq
MIRT2467058	hsa-miR-665	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYCN	Activation	10348353;14737110;7923112
MYCN	Unknown	9516823
SP1	Repression	23765166

Gene ontology (GO) Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17050692, 23137377, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1360704
GO:0006691	Process	Leukotriene metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IBA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009410	Process	Response to xenobiotic stimulus	ISS
GO:0009410	Process	Response to xenobiotic stimulus	TAS	1360704
GO:0009925	Component	Basal plasma membrane	IDA	18619525
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015420	Function	ABC-type vitamin B12 transporter activity	EXP	21511966, 22547309
GO:0015420	Function	ABC-type vitamin B12 transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	ISS
GO:0015562	Function	Efflux transmembrane transporter activity	IEA
GO:0015562	Function	Efflux transmembrane transporter activity	IMP	25986174
GO:0015562	Function	Efflux transmembrane transporter activity	ISS	26200696
GO:0015889	Process	Cobalamin transport	IEA
GO:0015889	Process	Cobalamin transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1360704
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	24130369, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	18619525
GO:0016324	Component	Apical plasma membrane	IDA	31791063
GO:0016328	Component	Lateral plasma membrane	IDA	31791063
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0034040	Function	ATPase-coupled lipid transmembrane transporter activity	IMP	17050692
GO:0034599	Process	Cellular response to oxidative stress	TAS
GO:0034634	Function	Glutathione transmembrane transporter activity	IBA
GO:0034634	Function	Glutathione transmembrane transporter activity	IEA
GO:0034634	Function	Glutathione transmembrane transporter activity	ISS	26200696
GO:0034775	Process	Glutathione transmembrane transport	IBA
GO:0042167	Process	Heme catabolic process	TAS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042908	Process	Xenobiotic transport	IBA
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042908	Process	Xenobiotic transport	ISS
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	7961706, 9281595
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IMP	25986174
GO:0042910	Function	Xenobiotic transmembrane transporter activity	ISS	26200696
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0045332	Process	Phospholipid translocation	IMP	17050692
GO:0046624	Function	Sphingolipid transporter activity	TAS
GO:0046942	Process	Carboxylic acid transport	IEA
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IBA
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IMP	25986174
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0060326	Process	Cell chemotaxis	ISS	17050692
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070633	Process	Transepithelial transport	IMP	25986174
GO:0070729	Process	Cyclic nucleotide transport	IEA
GO:0070729	Process	Cyclic nucleotide transport	IMP	36070769
GO:0071716	Process	Leukotriene transport	IEA
GO:0071716	Process	Leukotriene transport	ISS
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0099039	Process	Sphingolipid translocation	IMP	17050692
GO:0140115	Process	Export across plasma membrane	IEA
GO:0140115	Process	Export across plasma membrane	IMP	25986174
GO:0140115	Process	Export across plasma membrane	ISS	26200696
GO:0140359	Function	ABC-type transporter activity	EXP	7961706
GO:0140359	Function	ABC-type transporter activity	IDA	7961706, 9281595
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	TAS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1904646	Process	Cellular response to amyloid-beta	IEA
GO:1904646	Process	Cellular response to amyloid-beta	ISS	26200696
GO:1905039	Process	Carboxylic acid transmembrane transport	IMP	25986174
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IMP	25986174

Other IDs

• MIM: 158343
• HGNC: 51
• e!Ensembl: ENSG00000103222

Protein

• UniProt ID: P33527
• Protein name: Multidrug resistance-associated protein 1 (EC 7.6.2.2) (ATP-binding cassette sub-family C member 1) (Glutathione-S-conjugate-translocating ATPase ABCC1) (EC 7.6.2.3) (Leukotriene C(4) transporter) (LTC4 transporter)
• Protein function: Mediates export of organic anions and drugs from the cytoplasm (PubMed:10064732, PubMed:11114332, PubMed:16230346, PubMed:7961706, PubMed:9281595). Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estra
• PDB: 2CBZ , 4C3Z , 8VT4 , 8VUX , 8VVC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	975 → 1244	ABC transporter transmembrane region	Family
  PF00664	ABC_membrane	325 → 596	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1310 → 1458	ABC transporter	Domain
  PF00005	ABC_tran	661 → 796	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Lung, testis and peripheral blood mononuclear cells.
• Sequence:

  MALRGFCSADGSDPLWDWNVTWNTSNPDFTKCFQNTVLVWVPCFYLWACFPFYFLYLSRH
  DRGYIQMTPLNKTKTALGFLLWIVCWADLFYSFWERSRGIFLAPVFLVSPTLLGITMLLA
  TFLIQLERRKGVQSSGIMLTFWLVALVCALAILRSKIMTALKEDAQVDLFRDITFYVYFS
  LLLIQLVLSCFSDRSPLFSETIHDPNPCPESSASFLSRITFWWITGLIVRGYRQPLEGSD
  LWSLNKEDTSEQVVPVLVKNWKKECAKTRKQPVKVVYSSKDPAQPKESSKVDANEEVEAL
  IVKSPQKEWNPSLFKVLYKTFGPYFLMSFFFKAIHDLMMFSGPQILKLLIKFVNDTKAPD
  WQGYFYTVLLFVTACLQTLVLHQYFHICFVSGMRIKTAVIGAVYRKALVITNSARKSSTV
  GEIVNLMSVDAQRFMDLATYINMIWSAPLQVILALYLLWLNLGPSVLAGVAVMVLMVPVN
  AVMAMKTKTYQVAHMKSKDNRIKLMNEILNGIKVLKLYAWELAFKDKVLAIRQEELKVLK
  KSAYLSAVGTFTWVCTPFLVALCTFAVYVTIDENNILDAQTAFVSLALFNILRFPLNILP
  MVISSIVQASVSLKRLRIFLSHEELEPDSIERRPVKDGGGTNSITVRNATFTWARSDPPT
  LNGITFSIPEGALVAVVGQVGCGKSSLLSALLAEMDKVEGHVAIKGSVAYVPQQAWIQND
  SLRENILFGCQLEEPYYRSVIQACALLPDLEILPSGDRTEIGEKGVNLSGGQKQRVSLAR
  AVYSNADIYLFDDPLSAVDAHVGKHIFENVIGPKGMLKNKTRILVTHSMSYLPQVDVIIV
  MSGGKISEMGSYQELLARDGAFAEFLRTYASTEQEQDAEENGVTGVSGPGKEAKQMENGM
  LVTDSAGKQLQRQLSSSSSYSGDISRHHNSTAELQKAEAKKEETWKLMEADKAQTGQVKL
  SVYWDYMKAIGLFISFLSIFLFMCNHVSALASNYWLSLWTDDPIVNGTQEHTKVRLSVYG
  ALGISQGIAVFGYSMAVSIGGILASRCLHVDLLHSILRSPMSFFERTPSGNLVNRFSKEL
  DTVDSMIPEVIKMFMGSLFNVIGACIVILLATPIAAIIIPPLGLIYFFVQRFYVASSRQL
  KRLESVSRSPVYSHFNETLLGVSVIRAFEEQERFIHQSDLKVDENQKAYYPSIVANRWLA
  VRLECVGNCIVLFAALFAVISRHSLSAGLVGLSVSYSLQVTTYLNWLVRMSSEMETNIVA
  VERLKEYSETEKEAPWQIQETAPPSSWPQVGRVEFRNYCLRYREDLDFVLRHINVTINGG
  EKVGIVGRTGAGKSSLTLGLFRINESAEGEIIIDGINIAKIGLHDLRFKITIIPQDPVLF
  SGSLRMNLDPFSQYSDEEVWTSLELAHLKDFVSALPDKLDHECAEGGENLSVGQRQLVCL
  ARALLRKTKILVLDEATAAVDLETDDLIQSTIRTQFEDCTVLTIAHRLNTIMDYTRVIVL
  DKGEIQEYGAPSDLLQQRGLFYSMAKDAGLV

• Sequence length: 1531

Pathways

KEGG Pathway	Reactome Pathway
Antifolate resistance	Heme degradation
ABC transporters	Cobalamin (Cbl, vitamin B12) transport and metabolism
Sphingolipid signaling pathway	Synthesis of Leukotrienes (LT) and Eoxins (EX)
Vitamin digestion and absorption	ABC-family proteins mediated transport
Folate transport and metabolism
MicroRNAs in cancer

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hearing loss, autosomal dominant 77	Pathogenic	rs199797323	RCV001194461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (29)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ABCC1-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atorvastatin response	drug response	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
autosomal dominant nonsyndromic hearing loss	—	ClinGen	31273342, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	25078270	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	22294766	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 77	—	Disgenet, HPO Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; association	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	16330681	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	17272743	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	20864405	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	38469033	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	25275603	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	34737425	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	28203683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (294)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	33097055	Stimulate	★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	29990841		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	16614510, 18711657, 19065772, 22037714, 22664042, 22826468, 7808005		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11323101, 11849207, 15543372, 18711657, 19065772, 21929509, 22037714, 24145140, 30535484, 31613845, 7528566, 7808005, 7911548, 7914748		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10214864, 10419897, 11986944, 19288261, 7528566, 9815827		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	31032633, 7528566		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15070089, 15856298, 23378758, 30132569, 7669560		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17203221, 18439156		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12115804		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	15070089, 30941955		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ATP2B2 4 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, autosomal dominant nonsyndromic hearing loss 8 shared evidence sourcesDisgenet (Isolated sensorineural deafness), ClinGen (Nonsyndromic hearing loss), Disgenet (Nonsyndromic hearing loss), Disgenet (Deafness), HPO (Deafness), Disgenet (Hearing loss), ClinVar (Hearing loss), ClinGen (autosomal dominant nonsyndromic hearing loss) Related via 4 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. PLS1 4 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, autosomal dominant nonsyndromic hearing loss 7 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), Disgenet (Deafness), HPO (Deafness), Disgenet (Hearing loss), ClinVar (Hearing loss), ClinGen (autosomal dominant nonsyndromic hearing loss) Related via 4 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. CD164 4 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, autosomal dominant nonsyndromic hearing loss 6 shared evidence sourcesDisgenet (Isolated sensorineural deafness), ClinGen (Nonsyndromic hearing loss), Disgenet (Nonsyndromic hearing loss), Disgenet (Deafness), HPO (Deafness), ClinGen (autosomal dominant nonsyndromic hearing loss) Related via 4 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. STX4 3 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness 6 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), Disgenet (Deafness), HPO (Deafness), Disgenet (Hearing loss), ClinVar (Hearing loss) Related via 3 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. S1PR2 4 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Heart disease 1 shared pathwaySphingolipid signaling pathway 6 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), Disgenet (Deafness), HPO (Deafness), Disgenet (Heart disease), CTD (Heart disease) Related via 4 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATP2B2	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","autosomal dominant nonsyndromic hearing loss"]	0	[]	8	["Disgenet (Isolated sensorineural deafness)","ClinGen (Nonsyndromic hearing loss)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hearing loss)","ClinGen (autosomal dominant nonsyndromic hearing loss)"]
PLS1	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","autosomal dominant nonsyndromic hearing loss"]	0	[]	7	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hearing loss)","ClinGen (autosomal dominant nonsyndromic hearing loss)"]
CD164	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","autosomal dominant nonsyndromic hearing loss"]	0	[]	6	["Disgenet (Isolated sensorineural deafness)","ClinGen (Nonsyndromic hearing loss)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Deafness)","HPO (Deafness)","ClinGen (autosomal dominant nonsyndromic hearing loss)"]
STX4	3	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness"]	0	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hearing loss)"]
S1PR2	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Heart disease"]	1	["Sphingolipid signaling pathway"]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Heart disease)","CTD (Heart disease)"]

Diseases Linked via Similar Genes

Asthma Linked via 1 of 5 related genesATP2B2 Autism Linked via 1 of 5 related genesATP2B2 Bipolar disorder Linked via 1 of 5 related genesATP2B2 Color vision deficiency Linked via 1 of 5 related genesATP2B2 Developmental and epileptic encephalopathy Linked via 1 of 5 related genesATP2B2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Asthma	1	["ATP2B2"]
Autism	1	["ATP2B2"]
Bipolar disorder	1	["ATP2B2"]
Color vision deficiency	1	["ATP2B2"]
Developmental and epileptic encephalopathy	1	["ATP2B2"]