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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6833
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily C member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCC8
Synonyms (NCBI Gene) Gene synonyms aliases	ABC36, HHF1, HI, HRINS, MODY12, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HHF1, PNDM3, TNDM2
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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(194)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1048095	A>G	Pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs28936370	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28936371	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28938469	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72559713	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs72559715	C>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72559716	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs72559718	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72559722	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs72559723	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant, non coding transcript variant
rs72559730	G>A,T	Pathogenic	Genic upstream transcript variant, stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs72559734	C>A,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs80356634	T>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80356637	A>C,G	Pathogenic, not-provided	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80356640	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs80356642	A>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80356651	C>T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs80356653	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111967655	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs137852671	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137852672	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs137852673	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137852674	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs137852676	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs139328569	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs139524121	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs139964066	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141322087	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs142272833	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs148709148	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs149331388	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs151344623	C>G,T	Pathogenic	Non coding transcript variant, intron variant
rs151344624	AAG>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs185040406	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs193922396	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs193922397	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs193922399	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922400	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922401	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922402	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs193922403	G>A,C	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs193922405	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant
rs193922406	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs193922407	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs193922408	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs193929360	A>C,G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs193929364	A>G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs193929366	G>T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs193929369	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200091822	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs200670692	A>T	Pathogenic, likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201682634	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs267606623	G>A	Pathogenic	Upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs367850779	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs368114790	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs372307320	C>T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs373737642	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant
rs387906407	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906408	GGA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs541269678	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs547150342	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs550990673	G>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs570388861	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs576684889	C>T	Likely-pathogenic	Splice acceptor variant
rs587783169	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs587783171	A>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs746480424	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs746714109	C>T	Likely-pathogenic	Intron variant
rs749271190	C>A,T	Likely-pathogenic	Splice donor variant
rs750586210	A>G	Pathogenic	Splice donor variant
rs751279984	G>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs755259997	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs757171524	C>T	Likely-pathogenic	Intron variant, non coding transcript variant
rs757650373	->GAGGGAGAGGGAGGC	Pathogenic	Inframe insertion, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs758844607	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs760196276	G>A	Likely-pathogenic	Splice donor variant
rs761749884	C>T	Pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs763028380	C>A,G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs764613146	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs765090096	G>A,C,T	Likely-pathogenic, likely-benign	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs766431403	C>T	Pathogenic	Non coding transcript variant, splice acceptor variant
rs768951263	->GAGCTGATTGGTGTCGATGGCAACCAGATTA	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs769279368	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs769518471	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs769569410	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs770664202	CCAT>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs771075821	G>A,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, missense variant, coding sequence variant, 5 prime UTR variant
rs772682942	C>T	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs773306994	C>A,T	Pathogenic	Splice donor variant
rs774574576	C>G,T	Likely-pathogenic	Splice donor variant
rs786204542	GGT>CAGTTCCTGGCTG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786204676	A>G	Likely-pathogenic	Splice donor variant
rs786204695	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs786204717	TCAG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs796891223	T>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs797045206	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs797045207	C>T	Pathogenic	Splice acceptor variant
rs797045208	A>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs797045209	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045211	C>T	Pathogenic	Splice donor variant, non coding transcript variant
rs797045212	->AATGGAAGCCGTGGCCTCGTC	Likely-pathogenic	Terminator codon variant, inframe insertion, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs797045213	T>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863225278	T>A	Pathogenic	Splice acceptor variant
rs863225279	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225280	C>T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886039877	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041391	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs886041392	TTCCTGGCTGCAGGGGTCAG>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs925231098	C>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs971604271	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs1008906426	C>G,T	Likely-pathogenic	Intron variant
rs1057516281	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516317	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516404	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1057516439	G>C	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516509	C>G	Likely-pathogenic	Splice donor variant
rs1057516542	TG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516585	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516589	A>G	Likely-pathogenic	Splice donor variant
rs1057516591	G>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516654	->C	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516655	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516665	->T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516718	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516890	TT>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516946	T>A,G	Likely-pathogenic	Splice acceptor variant
rs1057517015	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057517019	->G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517050	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs1057517128	A>G	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1057517139	C>G,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1057517199	->T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1057517274	A>T	Likely-pathogenic	Splice donor variant
rs1057517406	C>A	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs1057517420	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1167993548	C>T	Likely-pathogenic	Splice acceptor variant
rs1247430874	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, 5 prime UTR variant
rs1260178539	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs1263082097	CA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1344172059	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1382448285	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1395224084	G>A,C,T	Pathogenic	Upstream transcript variant
rs1411638309	G>A,C	Likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1446306735	C>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs1449198328	A>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554903370	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554904006	A>C	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1554904102	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554904136	T>C	Likely-pathogenic	Splice acceptor variant
rs1554904554	AGGGCCTCCCACAGTGTGCTATC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1554904904	AGGACGGGGTCCTGCAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554904936	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554905145	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554905662	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554905787	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554906449	C>T	Likely-pathogenic	Splice acceptor variant
rs1554906450	T>C	Likely-pathogenic	Splice acceptor variant
rs1554906786	C>T	Likely-pathogenic	Splice donor variant
rs1554909277	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554910610	C>A,T	Likely-pathogenic	Splice donor variant
rs1554910616	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs1554910621	->TGGAC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554911369	C>T	Likely-pathogenic	Splice donor variant
rs1554912381	GCCGCCAGTCACACCTGGCTGAGGGAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant
rs1554913069	CTCT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554917411	CACGGGGCCTCTC>TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554923999	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1554924035	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554924142	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554924540	C>A,T	Likely-pathogenic	Splice donor variant
rs1554924630	C>T	Likely-pathogenic	Splice acceptor variant
rs1554926465	CTCAC>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, splice donor variant
rs1554926476	C>A	Likely-pathogenic	Splice donor variant
rs1554926539	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554933168	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1554933415	C>A	Likely-pathogenic	Splice donor variant, 5 prime UTR variant
rs1554933565	TC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554938866	T>C	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554946437	->AG	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554948310	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554948445	C>T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554949176	A>C	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1564869850	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1564890766	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1564905676	C>T	Pathogenic	Splice acceptor variant
rs1564955779	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1564977373	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1564980510	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1591705863	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1591794677	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1591834223	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1591890137	T>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1591896370	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1591928988	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

Show/Hide all(3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018447	hsa-miR-335-5p	Microarray	18185580
MIRT441310	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT441310	hsa-miR-136-5p	HITS-CLIP	24374217

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005267	Function	Potassium channel activity	IMP	24814349, 25720052, 26181369
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006813	Process	Potassium ion transport	TAS	7502040
GO:0008281	Function	Sulfonylurea receptor activity	IEA
GO:0008282	Component	Inward rectifying potassium channel	IDA	20610380
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	NAS	28842488
GO:0016020	Component	Membrane	IBA	21873635
GO:0016887	Function	ATPase activity	IDA	26181369
GO:0019829	Function	ATPase-coupled cation transmembrane transporter activity	ISS
GO:0031004	Component	Potassium ion-transporting ATPase complex	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0044325	Function	Ion channel binding	IPI	20610380
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0071805	Process	Potassium ion transmembrane transport	NAS	28842488
GO:0098662	Process	Inorganic cation transmembrane transport	ISS

MIM	HGNC	e!Ensembl
600509	59	ENSG00000006071

Protein

UniProt ID

Q09428

Protein name

ATP-binding cassette sub-family C member 8 (Sulfonylurea receptor 1)

Protein function

Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for

PDB

6C3O , 6C3P , 7S5V , 7S5X , 7S5Y , 7S5Z , 7S60 , 7S61

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	299 → 590	ABC transporter transmembrane region	Family
PF00005	ABC_tran	696 → 857	ABC transporter	Domain
PF00664	ABC_membrane	1012 → 1294	ABC transporter transmembrane region	Family
PF00005	ABC_tran	1361 → 1509	ABC transporter	Domain

Sequence

MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHI
HHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTS
VVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYG
MLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTA
HKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLV
LSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAV
LLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL
VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATK
LSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYT
SISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST
VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLT
GPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKS
SLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLN
ATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA
RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWII
AMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMS
SRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQL
LKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCLV
TSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLE
CLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLL
SHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL
IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKT
EAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRT
GSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD
PERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTS
IFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFD
KPEKLLSRKDSVFASFVRADK

Sequence length

1581

Interactions

View interactions

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Source
Unknown
Hyperinsulinism	familial hyperinsulinism, diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	GenCC
Diabetes Mellitus	diabetes mellitus, permanent neonatal 3, diabetes mellitus, noninsulin-dependent, diabetes mellitus, transient neonatal, 2, type 2 diabetes mellitus, diabetes mellitus	GenCC
Diabetes	maturity-onset diabetes of the young, Diabetes	GenCC, GWAS
Pulmonary arterial hypertension	pulmonary arterial hypertension	GenCC
Monogenic Diabetes	monogenic diabetes	GenCC
Gout	Gout	GWAS
Schizophrenia	Schizophrenia	GWAS

Show/Hide Text Mining Associations (105)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	38212772
Acute Coronary Syndrome	Associate	21592353
Adenocarcinoma of Lung	Associate	32337264, 33879658, 37589509
Adenoma Islet Cell	Associate	31577849
Adenomatosis Pulmonary	Associate	11272143
Albuminuria	Associate	38164708
Alzheimer Disease	Associate	35654594
Amyotrophic Lateral Sclerosis	Associate	29492846
Attention Deficit Disorder with Hyperactivity	Associate	33184150
Beckwith Wiedemann Syndrome	Associate	36339418
Brain Edema	Associate	27677908, 29674479, 30484364, 33430695, 35474489, 39489406
Brain Injuries	Associate	33430695
Brain Injuries Traumatic	Associate	27677908, 29674479, 30484364, 33430695, 34309670, 39489406
Breast Neoplasms	Associate	26681085
Carcinoma Hepatocellular	Associate	35363194
Cardiomyopathy Dilated	Associate	22608503
Cardiovascular Diseases	Associate	40334645
Carotid Stenosis	Associate	32576189
Central Nervous System Diseases	Associate	39227362
Cerebral Hemorrhage Traumatic	Associate	34309670
Cerebral Infarction	Associate	23965746, 37777789, 39489406
Coma	Associate	33430695
Congenital Hyperinsulinism	Associate	11018078, 11228046, 11272143, 11395395, 18390792, 20830240, 20943779, 21411514, 21536946, 21716120, 21968111, 22031516, 22106158, 23266803, 23345197 View all (40 more)
Contusions	Associate	33430695
Coronary Artery Disease	Stimulate	21592353
Coronary Artery Disease	Associate	34385509
Coronary Disease	Associate	28411266
Developmental Disabilities	Associate	19139106
Diabetes Gestational	Associate	11018078, 22927833
Diabetes Mellitus	Associate	11272143, 16885549, 17213273, 17259403, 17446535, 17668386, 18025408, 18025464, 18346985, 18390792, 18497752, 18662362, 19766903, 21049026, 21544516 View all (35 more)
Diabetes Mellitus Permanent Neonatal	Associate	17213273, 17446535, 17668386, 17919176, 18162506, 19496967, 21273495, 21544516, 22672870, 22796691, 23050777, 24618446, 27098067
Diabetes Mellitus Transient Neonatal 1	Associate	16885549, 17446535, 17919176, 18025408, 18025464, 18346985, 18497752, 18678608, 19139106, 20022885, 20049716, 22187380, 22451668, 22796691, 23665564 View all (12 more)
Diabetes Mellitus Transient Neonatal 1	Stimulate	33184150
Diabetes Mellitus Type 1	Associate	21544516, 22210575, 30068891
Diabetes Mellitus Type 2	Associate	16885549, 17259403, 18346985, 18599530, 19766903, 22151254, 22187380, 22210575, 22466262, 22662265, 22701567, 23665564, 25368101, 26181369, 28095440 View all (20 more)
Diabetic Ketoacidosis	Associate	28173619, 28511139, 31390154
Diabetic Nephropathies	Associate	36314849
Diabetic Neuropathies	Associate	22210575
Down Syndrome	Associate	35294086
Drug Resistant Epilepsy	Associate	21674179
Dwarfism Pituitary	Associate	36890748
Edema	Associate	23965746, 27677908
Endocrine System Diseases	Associate	27246810
Epilepsy	Associate	19139106
Epilepsy Post Traumatic	Associate	26398596
Fetal Macrosomia	Associate	21674179
Focal Infection	Associate	21716120
Focal Infection	Stimulate	23965746
Genetic Diseases Inborn	Associate	11018078, 24827651, 32792356, 38408297, 9769320
Glioma	Associate	32728190
Glucose Intolerance	Associate	22210575, 30068891
Glucose Metabolism Disorders	Associate	22927833, 35002955
Hemorrhage	Associate	23280795, 33430695
Hyperglycemia	Associate	18346985, 25720052
Hyperglycemia	Inhibit	23985558
Hyperinsulinism	Associate	10193261, 11272143, 18390792, 20049716, 21536946, 22796691, 23273570, 25555642, 25720052, 29739729, 31464105, 33762279, 35294086, 35674212, 38212772, 9769320 View all (1 more)
Hypertensive Retinopathy	Associate	38164708
Hypoglycemia	Associate	25720052, 29739729, 31464105, 31479591, 37895301
Hypoxia	Stimulate	15141159
Infarction	Stimulate	23965746
Infarction	Associate	39489406
Inferior Wall Myocardial Infarction	Associate	23965746, 39489406
Inflammation	Associate	21592353
Insulin Resistance	Associate	11018078, 18346985, 25720052
Insulinoma	Associate	39536727
Intellectual Disability	Associate	38212772
Intracranial Hypertension	Associate	30484364, 33430695
Ischemia	Associate	39489406
Kabuki syndrome	Associate	36890748
Ketosis	Associate	30068891
Kidney Diseases	Associate	36408280
Kidney Failure Chronic	Associate	40334645
Major Affective Disorder 2	Associate	21544516
Mandibular Injuries	Associate	36890748
Mason Type Diabetes	Associate	35002955, 35992135, 36626423
Metabolic Syndrome	Inhibit	25867398
Metabolic Syndrome	Associate	25867398
Microphthalmia Isolated 1	Associate	27173951
Moyamoya Disease	Associate	39367156
Multiple Endocrine Neoplasia Type 1	Associate	37895301
Myocardial Infarction	Associate	32576189
Necrosis	Associate	23965746
Neoplasms	Associate	11092615, 15141159, 33879658, 37171501
Nerve Degeneration	Associate	33430695
Neuroendocrine Tumors	Associate	39536727
Neurologic Manifestations	Associate	27677908, 29674479, 30484364
Noninsulin dependent diabetes mellitus with deafness	Associate	34462253
Obesity	Associate	22056417
Polycystic Kidney Autosomal Dominant	Associate	22466262
Potassium aggravated myotonia	Associate	27573238
Pseudoacromegaly with Severe Insulin Resistance	Associate	38408297
Pulmonary Arterial Hypertension	Associate	30354297, 32934261, 34199176, 39367156
Renal Insufficiency	Associate	40334645
Sepsis	Associate	39227362
Somatoform Disorders	Associate	11395395
Stomach Neoplasms	Associate	31852133
Stroke	Associate	33430695, 37777789
Stroke Lacunar	Associate	23965746
Sudden Infant Death	Associate	35474489
Tang Hsi Ryu syndrome	Associate	29674479
Uniparental Disomy	Associate	36339418
Uterine Cervical Neoplasms	Stimulate	37443304
Uterine Cervicitis	Stimulate	37443304
Vascular Diseases	Associate	34199176
Warburg Sjo Fledelius syndrome	Associate	32576189

ABCC8 (ATP binding cassette subfamily C member 8)