Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10257
Gene name	ATP binding cassette subfamily C member 4 (PEL blood group)
Gene symbol	ABCC4
Synonyms (NCBI Gene)	MOAT-BMOATBMRP4
Chromosome	13
Chromosome location	13q32.1
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, M

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1751034	C>G,T	Drug-response	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004989	hsa-miR-125b-5p	Microarray	17891175
MIRT020794	hsa-miR-155-5p	Proteomics	18668040
MIRT023897	hsa-miR-1-3p	Proteomics	18668040
MIRT031811	hsa-miR-16-5p	Proteomics	18668040
MIRT046379	hsa-miR-23b-3p	CLASH	23622248
MIRT043124	hsa-miR-324-5p	CLASH	23622248
MIRT527079	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT527078	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT527077	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT527076	hsa-miR-300	PAR-CLIP	22012620
MIRT527075	hsa-miR-381-3p	PAR-CLIP	22012620
MIRT527074	hsa-miR-4666a-3p	PAR-CLIP	22012620
MIRT527073	hsa-miR-105-5p	PAR-CLIP	22012620
MIRT527072	hsa-miR-7853-5p	PAR-CLIP	22012620
MIRT527071	hsa-miR-8064	PAR-CLIP	22012620
MIRT527070	hsa-let-7a-3p	PAR-CLIP	22012620
MIRT527069	hsa-let-7b-3p	PAR-CLIP	22012620
MIRT527068	hsa-let-7f-1-3p	PAR-CLIP	22012620
MIRT527067	hsa-miR-98-3p	PAR-CLIP	22012620
MIRT527066	hsa-miR-3924	PAR-CLIP	22012620
MIRT736954	hsa-miR-124-3p	Luciferase reporter assayWestern blottingqRT-PCR	33946595
MIRT527079	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT527078	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT527077	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT527076	hsa-miR-300	PAR-CLIP	22012620
MIRT527075	hsa-miR-381-3p	PAR-CLIP	22012620
MIRT527074	hsa-miR-4666a-3p	PAR-CLIP	22012620
MIRT527073	hsa-miR-105-5p	PAR-CLIP	22012620
MIRT527072	hsa-miR-7853-5p	PAR-CLIP	22012620
MIRT527071	hsa-miR-8064	PAR-CLIP	22012620
MIRT527070	hsa-let-7a-3p	PAR-CLIP	22012620
MIRT527069	hsa-let-7b-3p	PAR-CLIP	22012620
MIRT527068	hsa-let-7f-1-3p	PAR-CLIP	22012620
MIRT527067	hsa-miR-98-3p	PAR-CLIP	22012620
MIRT527066	hsa-miR-3924	PAR-CLIP	22012620
MIRT758384	hsa-miR-4803	CLIP-seq
MIRT758385	hsa-miR-1271	CLIP-seq
MIRT758386	hsa-miR-128	CLIP-seq
MIRT758387	hsa-miR-1297	CLIP-seq
MIRT758388	hsa-miR-147	CLIP-seq
MIRT758389	hsa-miR-182	CLIP-seq
MIRT758390	hsa-miR-218	CLIP-seq
MIRT758391	hsa-miR-26a	CLIP-seq
MIRT758392	hsa-miR-26b	CLIP-seq
MIRT758393	hsa-miR-27a	CLIP-seq
MIRT758394	hsa-miR-27b	CLIP-seq
MIRT758395	hsa-miR-3121-3p	CLIP-seq
MIRT758396	hsa-miR-3130-3p	CLIP-seq
MIRT758397	hsa-miR-3140-3p	CLIP-seq
MIRT758398	hsa-miR-3148	CLIP-seq
MIRT758399	hsa-miR-34a	CLIP-seq
MIRT758400	hsa-miR-34c-5p	CLIP-seq
MIRT758401	hsa-miR-3650	CLIP-seq
MIRT758402	hsa-miR-3911	CLIP-seq
MIRT758403	hsa-miR-4432	CLIP-seq
MIRT758404	hsa-miR-4456	CLIP-seq
MIRT758405	hsa-miR-4465	CLIP-seq
MIRT758406	hsa-miR-449a	CLIP-seq
MIRT758407	hsa-miR-449b	CLIP-seq
MIRT758408	hsa-miR-4680-5p	CLIP-seq
MIRT758409	hsa-miR-4691-3p	CLIP-seq
MIRT758410	hsa-miR-513a-5p	CLIP-seq
MIRT758411	hsa-miR-548u	CLIP-seq
MIRT758412	hsa-miR-582-3p	CLIP-seq
MIRT758413	hsa-miR-636	CLIP-seq
MIRT758414	hsa-miR-644	CLIP-seq
MIRT758415	hsa-miR-873	CLIP-seq
MIRT758416	hsa-miR-96	CLIP-seq
MIRT1923669	hsa-miR-3137	CLIP-seq
MIRT1923670	hsa-miR-4474-5p	CLIP-seq
MIRT2435149	hsa-miR-186	CLIP-seq
MIRT2435150	hsa-miR-365	CLIP-seq
MIRT2435149	hsa-miR-186	CLIP-seq
MIRT2435150	hsa-miR-365	CLIP-seq
MIRT2467059	hsa-miR-3672	CLIP-seq
MIRT2467060	hsa-miR-4251	CLIP-seq
MIRT2467061	hsa-miR-4303	CLIP-seq
MIRT2467062	hsa-miR-4329	CLIP-seq
MIRT758403	hsa-miR-4432	CLIP-seq
MIRT2467063	hsa-miR-4436b-5p	CLIP-seq
MIRT2467064	hsa-miR-4778-5p	CLIP-seq
MIRT2467065	hsa-miR-548aa	CLIP-seq
MIRT758411	hsa-miR-548u	CLIP-seq
MIRT2467066	hsa-miR-633	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
NR1H4	Repression	22291955

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001409	Function	Guanine nucleotide transmembrane transporter activity	IDA	15454390
GO:0002576	Process	Platelet degranulation	TAS
GO:0005515	Function	Protein binding	IPI	22411990, 29146910
GO:0005524	Function	ATP binding	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15297306, 18619525, 23137377, 25173977, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006855	Process	Xenobiotic transmembrane transport	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0015132	Function	Prostaglandin transmembrane transporter activity	IMP	15364914
GO:0015143	Function	Urate transmembrane transporter activity	IMP	15454390
GO:0015216	Function	Purine nucleotide transmembrane transporter activity	IMP	25986174
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IDA	17959747
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IEA
GO:0015432	Function	ABC-type bile acid transporter activity	IMP	16282361
GO:0015562	Function	Efflux transmembrane transporter activity	IMP	25986174
GO:0015721	Process	Bile acid and bile salt transport	IMP	16282361
GO:0015732	Process	Prostaglandin transport	IMP	15364914
GO:0015747	Process	Urate transport	IMP	15454390
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	15297306
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	24130369, 25986174, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	11856762, 25986174, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016404	Function	15-hydroxyprostaglandin dehydrogenase (NAD+) activity	NAS	7557451
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031088	Component	Platelet dense granule membrane	IDA	15297306
GO:0031088	Component	Platelet dense granule membrane	TAS
GO:0032310	Process	Prostaglandin secretion	IDA	25173977
GO:0034634	Function	Glutathione transmembrane transporter activity	IMP	11856762
GO:0034775	Process	Glutathione transmembrane transport	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	15364914, 15454390
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	11856762
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IMP	25986174
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0060271	Process	Cilium assembly	IMP	25173977
GO:0070730	Process	CAMP transport	IDA	11856762
GO:0070730	Process	CAMP transport	IMP	25986174
GO:0071716	Process	Leukotriene transport	IDA	17959747
GO:0071716	Process	Leukotriene transport	IEA
GO:0098591	Component	External side of apical plasma membrane	ISS	18619525
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0140115	Process	Export across plasma membrane	IMP	25986174
GO:0140359	Function	ABC-type transporter activity	IBA
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:1903790	Process	Guanine nucleotide transmembrane transport	IEA

MIM	HGNC	e!Ensembl
605250	55	ENSG00000125257

O15439

Protein name

ATP-binding cassette sub-family C member 4 (EC 7.6.2.-) (EC 7.6.2.2) (EC 7.6.2.3) (MRP/cMOAT-related ABC transporter) (Multi-specific organic anion transporter B) (MOAT-B) (Multidrug resistance-associated protein 4)

Protein function

ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Transports a range of endogenous molecules that have a key role in cellular communication and signaling

PDB

8BJF , 8BWO , 8BWP , 8BWQ , 8BWR , 8I4A , 8I4B , 8I4C , 8IZ7 , 8IZ8 , 8IZ9 , 8IZA , 8J3W , 8J3Z , 8XOK , 8XOL , 8XOM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	92 → 365	ABC transporter transmembrane region	Family
PF00005	ABC_tran	428 → 563	ABC transporter	Domain
PF00664	ABC_membrane	714 → 993	ABC transporter transmembrane region	Family
PF00005	ABC_tran	1058 → 1205	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. sinusoidal membrane of hepatocytes.

Sequence

MLPVYQEVKPNPLQDANLCSRVFFWWLNPLFKIGHKRRLEEDDMYSVLPEDRSQHLGEEL
QGFWDKEVLRAENDAQKPSLTRAIIKCYWKSYLVLGIFTLIEESAKVIQPIFLGKIINYF
ENYDPMDSVALNTAYAYATVLTFCTLILAILHHLYFYHVQCAGMRLRVAMCHMIYRKALR
LSNMAMGKTTTGQIVNLLSNDVNKFDQVTVFLHFLWAGPLQAIAVTALLWMEIGISCLAG
MAVLIILLPLQSCFGKLFSSLRSKTATFTDARIRTMNEVITGIRIIKMYAWEKSFSNLIT
NLRKKEISKILRSSCLRGMNLASFFSASKIIVFVTFTTYVLLGSVITASRVFVAVTLYGA
VRLTVTLFFPSAIERVSEAIVSIRRIQTFLLLDEISQRNRQLPSDGKKMVHVQDFTAFWD
KASETPTLQGLSFTVRPGELLAVVGPVGAGKSSLLSAVLGELAPSHGLVSVHGRIAYVSQ
QPWVFSGTLRSNILFGKKYEKERYEKVIKACALKKDLQLLEDGDLTVIGDRGTTLSGGQK
ARVNLARAVYQDADIYLLDDPLSAVDAEVSRHLFELCICQILHEKITILVTHQLQYLKAA
SQILILKDGKMVQKGTYTEFLKSGIDFGSLLKKDNEESEQPPVPGTPTLRNRTFSESSVW
SQQSSRPSLKDGALESQDTENVPVTLSEENRSEGKVGFQAYKNYFRAGAHWIVFIFLILL
NTAAQVAYVLQDWWLSYWANKQSMLNVTVNGGGNVTEKLDLNWYLGIYSGLTVATVLFGI
ARSLLVFYVLVNSSQTLHNKMFESILKAPVLFFDRNPIGRILNRFSKDIGHLDDLLPLTF
LDFIQTLLQVVGVVSVAVAVIPWIAIPLVPLGIIFIFLRRYFLETSRDVKRLESTTRSPV
FSHLSSSLQGLWTIRAYKAEERCQELFDAHQDLHSEAWFLFLTTSRWFAVRLDAICAMFV
IIVAFGSLILAKTLDAGQVGLALSYALTLMGMFQWCVRQSAEVENMMISVERVIEYTDLE
KEAPWEYQKRPPPAWPHEGVIIFDNVNFMYSPGGPLVLKHLTALIKSQEKVGIVGRTGAG
KSSLISALFRLSEPEGKIWIDKILTTEIGLHDLRKKMSIIPQEPVLFTGTMRKNLDPFNE
HTDEELWNALQEVQLKETIEDLPGKMDTELAESGSNFSVGQRQLVCLARAILRKNQILII
DEATANVDPRTDELIQKKIREKFAHCTVLTIAHRLNTIIDSDKIMVLDSGRLKEYDEPYV
LLQNKESLFYKMVQQLGKAEAAALTETAKQVYFKRNYPHIGHTDHMVTNTSNGQPSTLTI
FETAL

Sequence length

1325

Interactions

View interactions

	KEGG		Reactome
	Antifolate resistance ABC transporters cAMP signaling pathway Bile secretion Folate transport and metabolism		Platelet degranulation ABC-family proteins mediated transport

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ABCC4-related disorder	Likely benign	rs11568705, rs4148550	RCV003931906 RCV003974700
Glioma susceptibility 1	-	rs2501617401	RCV005931680
Lung cancer	-	rs372399293	RCV005930237
Prostate cancer	Uncertain significance	rs193921134, rs781305510	RCV000149047 RCV000204521

Show/Hide Text Mining Associations (78)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	18820669
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Associate	20133816
Alopecia	Associate	35279334
Anemia	Associate	25677905
Asthma	Associate	28659663
Beta ketothiolase deficiency	Associate	28583112
Blood Platelet Disorders	Associate	31826245
Bone Diseases	Associate	28583112
Breast Neoplasms	Associate	33023375, 35461219
Burkitt Lymphoma	Associate	19759907
Carcinoma Non Small Cell Lung	Associate	21792076
Carcinoma Ovarian Epithelial	Associate	24024181
Cardiotoxicity	Associate	38547766
Chemical and Drug Induced Liver Injury	Associate	24154606
Cholangiocarcinoma	Associate	23480753
Cholestasis	Associate	24154606, 25798860, 33582321
Chronic Pain	Associate	33685280
Colitis Ulcerative	Stimulate	27037036
Colorectal Neoplasms	Associate	24694755, 28765596
Coronary Artery Disease	Associate	30363999
Corticosteroid Binding Globulin Deficiency	Associate	20941359
COVID 19	Associate	39475058
Drug Related Side Effects and Adverse Reactions	Associate	20855458, 25677905, 30927276
Drug Resistant Epilepsy	Associate	20922799
End Stage Liver Disease	Associate	23087145
Endometrial Neoplasms	Associate	23472950
Endometriosis	Associate	23472950
Esophageal Squamous Cell Carcinoma	Associate	36474162
Fanconi Syndrome	Associate	25485598, 36314476
Fatigue	Associate	22454423
Fibrosis	Associate	20460825
Fibrosis	Stimulate	23462698
Gastrointestinal Diseases	Associate	25677905
GATA2 Deficiency	Associate	30643796
Hepatitis C	Associate	20460825
Hepatolenticular Degeneration	Associate	34117631
Hermanski Pudlak Syndrome	Associate	15297306
HIV Infections	Stimulate	15105153
HIV Infections	Associate	25801567, 26807589
Hyperglycemia	Stimulate	25982326
Hyperuricemia	Inhibit	23665398
Inflammation	Associate	28659663, 39475058
Kidney Diseases	Associate	26807589, 37099271
Kidney Failure Chronic	Associate	27206740
Leukemia	Associate	21205825, 26497925, 31826245
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	11552983, 34050721
Leukemia Myeloid Acute	Associate	32333821
Leukopenia	Associate	25677905
Liver Cirrhosis	Associate	20460825
Liver Failure	Associate	25798860
Lung Neoplasms	Associate	20200426
Mucocutaneous Lymph Node Syndrome	Associate	21571869, 30363999
Neoplasm Metastasis	Associate	36982681
Neoplasms	Inhibit	23503867
Neoplasms	Associate	33375210, 34065900, 40641097
Neuralgia Postherpetic	Associate	33685280
Neuroblastoma	Associate	37545226
Neutropenia	Associate	25677905, 27045542, 30927276
Non alcoholic Fatty Liver Disease	Associate	21878559
Osteosarcoma	Associate	25879330
Pain	Associate	22454423, 31196165
Pancreatic Neoplasms	Associate	20530583, 20922799, 25790437
Pdgfra Associated Chronic Eosinophilic Leukemia	Stimulate	37147165
Peripheral Nervous System Diseases	Associate	25586538
Peritoneal Diseases	Stimulate	23472950
Polyps	Associate	37147165
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	19515727, 33788417
Prostatic Neoplasms	Associate	21266046, 23503867, 26459268, 30880686, 37270661
Renal Insufficiency Chronic	Associate	23665398
Retinoblastoma	Associate	30060118
Spinal Cord Diseases	Associate	34951141
Squamous Cell Carcinoma of Head and Neck	Associate	19430297
Status Asthmaticus	Associate	28659663
Stomach Neoplasms	Associate	31852133, 33081378, 33440718
Thrombocytopenia	Associate	19515727
Tuberculosis Multidrug Resistant	Associate	33375210
Urinary Incontinence Stress	Associate	33836021
Uterine Diseases	Associate	26240828

ABCC4 (ATP binding cassette subfamily C member 4 (PEL blood group))