ABCC8 (ATP binding cassette subfamily C member 8)

Gene

• Entrez ID: 6833
• Gene name: ATP binding cassette subfamily C member 8
• Gene symbol: ABCC8
• Synonyms: ABC36, HHF1, HI, HRINS, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2
• Chromosome: 11
• Chromosome location: 11p15.1
• 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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 600509
• HGNC: 59
• e!Ensembl: ENSG00000006071

Protein

• UniProt ID: Q09428
• Protein name: ATP-binding cassette sub-family C member 8 (Sulfonylurea receptor 1)
• Protein function: Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.
• PDB: 6C3O, 6C3P
• 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