SLC37A4 (solute carrier family 37 member 4)

Gene

• Entrez ID: 2542
• Gene name: Solute carrier family 37 member 4
• Gene symbol: SLC37A4
• Synonyms: CDG2W, G6PT, G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, PRO0685, SPX4, TRG-19, TRG19
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356489	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs80356490	C>A	Pathogenic	Missense variant, coding sequence variant
rs80356491	AG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs121908975	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121908976	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs121908977	CAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs121908978	C>T	Not-provided, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs121908979	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs121908980	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs148971334	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs186476316	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193302881	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs193302882	G>A	Pathogenic, not-provided	Coding sequence variant, intron variant, missense variant
rs193302883	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs193302887	A>G	Likely-pathogenic, not-provided	Coding sequence variant, intron variant, missense variant
rs193302888	G>A	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs193302889	A>T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, intron variant, missense variant
rs193302900	A>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs193302903	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs200703321	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201036248	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201967384	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202209699	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374848317	G>A,T	Pathogenic	5 prime UTR variant, missense variant, stop gained, coding sequence variant
rs551439289	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs561701030	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769726248	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs781784543	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs781869215	->AC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs782172072	->T	Pathogenic	Frameshift variant, coding sequence variant
rs782202675	C>G,T	Likely-pathogenic	Splice acceptor variant
rs782501672	CCGACTG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs782604758	->C,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs782630676	C>A,G	Pathogenic	Splice donor variant
rs782645078	A>C	Likely-pathogenic	Splice donor variant
rs786204477	->CCAGCCATCATG	Likely-pathogenic	Inframe insertion, coding sequence variant
rs786204637	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs786204740	T>C	Likely-pathogenic	Missense variant, initiator codon variant, intron variant
rs920196110	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1064795433	A>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1182102272	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1444468055	G>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1447366650	GTAA>-	Pathogenic-likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1449998297	A>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1459811938	->A	Likely-pathogenic	Splice donor variant
rs1474282972	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555190559	AGAGCTG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1555190745	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555190956	GTAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555190969	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555190992	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191105	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191211	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555191406	C>-	Likely-pathogenic	Splice acceptor variant
rs1555191512	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191573	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191580	->AGCCAACCAGG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191595	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1592109970	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592111112	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592111172	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592111559	A>C	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046702	hsa-miR-222-3p	CLASH	23622248
MIRT041504	hsa-miR-193b-3p	CLASH	23622248
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508335	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	22012620
MIRT508336	hsa-miR-1322	PAR-CLIP	22012620
MIRT508335	hsa-miR-205-3p	PAR-CLIP	22012620
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT508333	hsa-miR-4534	PAR-CLIP	22012620
MIRT508332	hsa-miR-8082	PAR-CLIP	22012620
MIRT508331	hsa-miR-3134	PAR-CLIP	22012620
MIRT508330	hsa-miR-7974	PAR-CLIP	22012620
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	22012620
MIRT508328	hsa-miR-4502	PAR-CLIP	22012620
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508335	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508335	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	22012620
MIRT508336	hsa-miR-1322	PAR-CLIP	22012620
MIRT508335	hsa-miR-205-3p	PAR-CLIP	22012620
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT508333	hsa-miR-4534	PAR-CLIP	22012620
MIRT508332	hsa-miR-8082	PAR-CLIP	22012620
MIRT508331	hsa-miR-3134	PAR-CLIP	22012620
MIRT508330	hsa-miR-7974	PAR-CLIP	22012620
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	22012620
MIRT508328	hsa-miR-4502	PAR-CLIP	22012620
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508335	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT1362191	hsa-miR-1231	CLIP-seq
MIRT1362192	hsa-miR-191	CLIP-seq
MIRT1362193	hsa-miR-28-5p	CLIP-seq
MIRT1362194	hsa-miR-3074-5p	CLIP-seq
MIRT1362195	hsa-miR-3139	CLIP-seq
MIRT1362196	hsa-miR-3714	CLIP-seq
MIRT1362197	hsa-miR-3926	CLIP-seq
MIRT1362198	hsa-miR-4288	CLIP-seq
MIRT1362199	hsa-miR-4294	CLIP-seq
MIRT1362200	hsa-miR-4493	CLIP-seq
MIRT1362201	hsa-miR-4521	CLIP-seq
MIRT1362202	hsa-miR-4633-3p	CLIP-seq
MIRT1362203	hsa-miR-4753-5p	CLIP-seq
MIRT1362204	hsa-miR-610	CLIP-seq
MIRT1362205	hsa-miR-632	CLIP-seq
MIRT1362206	hsa-miR-708	CLIP-seq
MIRT1362207	hsa-miR-940	CLIP-seq
MIRT1362208	hsa-miR-154	CLIP-seq
MIRT1362192	hsa-miR-191	CLIP-seq
MIRT1362209	hsa-miR-2278	CLIP-seq
MIRT1362193	hsa-miR-28-5p	CLIP-seq
MIRT1362210	hsa-miR-3121-3p	CLIP-seq
MIRT1362195	hsa-miR-3139	CLIP-seq
MIRT1362197	hsa-miR-3926	CLIP-seq
MIRT1362211	hsa-miR-4270	CLIP-seq
MIRT1362199	hsa-miR-4294	CLIP-seq
MIRT1362212	hsa-miR-4441	CLIP-seq
MIRT1362201	hsa-miR-4521	CLIP-seq
MIRT1362202	hsa-miR-4633-3p	CLIP-seq
MIRT1362213	hsa-miR-4661-3p	CLIP-seq
MIRT1362203	hsa-miR-4753-5p	CLIP-seq
MIRT1362214	hsa-miR-4762-5p	CLIP-seq
MIRT1362215	hsa-miR-4772-5p	CLIP-seq
MIRT1362204	hsa-miR-610	CLIP-seq
MIRT1362206	hsa-miR-708	CLIP-seq
MIRT1362216	hsa-miR-1184	CLIP-seq
MIRT1362217	hsa-miR-1205	CLIP-seq
MIRT1362218	hsa-miR-125a-3p	CLIP-seq
MIRT1362219	hsa-miR-1301	CLIP-seq
MIRT1362220	hsa-miR-146b-3p	CLIP-seq
MIRT1362208	hsa-miR-154	CLIP-seq
MIRT1362221	hsa-miR-1909	CLIP-seq
MIRT1362192	hsa-miR-191	CLIP-seq
MIRT1362222	hsa-miR-298	CLIP-seq
MIRT1362223	hsa-miR-3117-3p	CLIP-seq
MIRT1362224	hsa-miR-3135	CLIP-seq
MIRT1362225	hsa-miR-3154	CLIP-seq
MIRT1362226	hsa-miR-3173-5p	CLIP-seq
MIRT1362227	hsa-miR-3185	CLIP-seq
MIRT1362228	hsa-miR-371-3p	CLIP-seq
MIRT1362229	hsa-miR-371b-3p	CLIP-seq
MIRT1362197	hsa-miR-3926	CLIP-seq
MIRT1362230	hsa-miR-3934	CLIP-seq
MIRT1362231	hsa-miR-4274	CLIP-seq
MIRT1362199	hsa-miR-4294	CLIP-seq
MIRT1362232	hsa-miR-4450	CLIP-seq
MIRT1362233	hsa-miR-4473	CLIP-seq
MIRT1362234	hsa-miR-4496	CLIP-seq
MIRT1362201	hsa-miR-4521	CLIP-seq
MIRT1362235	hsa-miR-4530	CLIP-seq
MIRT1362236	hsa-miR-4660	CLIP-seq
MIRT1362237	hsa-miR-4663	CLIP-seq
MIRT1362238	hsa-miR-4671-3p	CLIP-seq
MIRT1362239	hsa-miR-4700-3p	CLIP-seq
MIRT1362240	hsa-miR-4704-3p	CLIP-seq
MIRT1362203	hsa-miR-4753-5p	CLIP-seq
MIRT1362241	hsa-miR-491-5p	CLIP-seq
MIRT1362242	hsa-miR-5047	CLIP-seq
MIRT1362243	hsa-miR-515-3p	CLIP-seq
MIRT1362244	hsa-miR-519e	CLIP-seq
MIRT1362245	hsa-miR-711	CLIP-seq
MIRT1362246	hsa-miR-764	CLIP-seq
MIRT1362247	hsa-miR-874	CLIP-seq
MIRT1362248	hsa-miR-922	CLIP-seq
MIRT2107319	hsa-miR-1265	CLIP-seq
MIRT2107320	hsa-miR-2392	CLIP-seq
MIRT2107321	hsa-miR-202	CLIP-seq
MIRT2107322	hsa-miR-4678	CLIP-seq
MIRT1362222	hsa-miR-298	CLIP-seq
MIRT1362194	hsa-miR-3074-5p	CLIP-seq
MIRT1362223	hsa-miR-3117-3p	CLIP-seq
MIRT2331436	hsa-miR-3158-5p	CLIP-seq
MIRT2331437	hsa-miR-4418	CLIP-seq
MIRT1362237	hsa-miR-4663	CLIP-seq
MIRT2331438	hsa-miR-509-3-5p	CLIP-seq
MIRT2331439	hsa-miR-509-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	NAS	212064
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006006	Process	Glucose metabolic process	NAS	9428641
GO:0006094	Process	Gluconeogenesis	TAS
GO:0008643	Process	Carbohydrate transport	IEA
GO:0015152	Function	Glucose-6-phosphate transmembrane transporter activity	IMP	12560945
GO:0015760	Process	Glucose-6-phosphate transport	IDA	21949678
GO:0015760	Process	Glucose-6-phosphate transport	IMP	12560945
GO:0015760	Process	Glucose-6-phosphate transport	NAS	9428641
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	NAS	9428641
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	21949678
GO:0035435	Process	Phosphate ion transmembrane transport	IDA	21949678
GO:0061513	Function	Glucose 6-phosphate:inorganic phosphate antiporter activity	EXP	18337460
GO:0061513	Function	Glucose 6-phosphate:inorganic phosphate antiporter activity	IDA	21949678

Other IDs

• MIM: 602671
• HGNC: 4061
• e!Ensembl: ENSG00000137700

Protein

• UniProt ID: O43826
• Protein name: Glucose-6-phosphate exchanger SLC37A4 (Glucose-5-phosphate transporter) (Glucose-6-phosphate translocase) (Solute carrier family 37 member 4) (Transformation-related gene 19 protein) (TRG-19)
• Protein function: Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction (PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	17 → 381	Major Facilitator Superfamily	Family

• Sequence:

  MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAY
  AISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPP
  CGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVS
  FLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVK
  TCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPR
  HGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPN
  LCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTK
  MGRVSKKAE

• Sequence length: 429

Pathways

KEGG:

Carbohydrate digestion and absorption

Reactome:

Glycogen storage disease type Ib (SLC37A4)
Gluconeogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Glucose-6-phosphate transport defect	Glucose-6-phosphate transport defect	rs80356490, rs121908975, rs80356489, rs2134631556, rs80356491, rs121908976, rs121908977, rs1943574435, rs1943672400, rs121908978, rs121908979, rs121908980, rs1272300904, rs193302884, rs193302885, rs193302879, rs193302892, rs193302883, rs193302890, rs193302893, rs193302888, rs193302881, rs193302887, rs193302878, rs193302882, rs193302880, rs193302903, rs193302891, rs781784543, rs551439289, rs786204637, rs786204740, rs1555190969, rs1444468055, rs782604758, rs920196110, rs1474282972, rs1449998297, rs782202675, rs1555190559, rs1555190745, rs1555190956, rs1555190992, rs1555191105, rs1555191512, rs1555191573, rs1555191406, rs1555191580, rs781869215, rs1447366650, rs782630676, rs1182102272, rs782645078, rs782172072, rs1592111172, rs769726248, rs782501672, rs374848317, rs1592111559, rs1592109970, rs1592111112, rs1943557200, rs996440530, rs1233639372, rs1943676862	10923042, 26913919, 18835800, 22899091, 9675154, 10518030, 9758626, 19579760, 24565827, 18437526, 15059622, 10482875, 18337460, 10940311, 10874322, 10482962, 9428641, 11071391, 10323254, 11949931, 17307551, 21629566, 9781688, 10931421, 28224773, 10026167, 20386986, 18996862, 12373566, 15906092, 15953877, 12409273, 24646511, 9856496, 15260472, 19454374, 12444104, 21575371, 27604308, 15757503, 24745989, 15669677, 27066451, 25982172, 25356975
Glycogen storage disease	Glycogen Storage Disease, Glycogen Storage Disease Type I, GLYCOGEN STORAGE DISEASE Ic, Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691, rs121918193, rs121918195, rs121918196, rs116987552, rs119103251, rs119103252, rs119103253, rs119103254, rs144081869, rs119103255, rs786200874, rs267606993, rs119103257, rs119103258, rs119103259, rs119103260, rs1474863903, rs764313717, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852890, rs137852891, rs1575782181, rs137852892, rs397515344, rs137852894, rs121907936, rs121907937, rs28937909, rs121907938, rs121907940, rs121907941, rs386834236, rs121907939, rs28940868, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs121908987, rs121908991, rs267606977, rs137852546, rs137852547, rs1603266754, rs137852548, rs137852528, rs137852529, rs431905501, rs137852531, rs137852532, rs137852533, rs137852535, rs137852536, rs137852537, rs137852538, rs431905503, rs137852539, rs137852285, rs137852286, rs587776731, rs137852287, rs137852288, rs587776732, rs137852293, rs137852289, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147483647, rs137852295, rs113993982, rs113993974, rs113993977, rs113993981, rs80356488, rs1801175, rs104894563, rs80356487, rs104894566, rs587776757, rs80356484, rs104894565, rs104894567, rs104894568, rs104894569, rs80356482, rs1801176, rs104894571, rs34667348, rs797044442, rs121918021, rs137853588, rs137853589, rs137853590, rs1596680941, rs137853591, rs137853592, rs118203895, rs118203896, rs118203897, rs267607212, rs121918419, rs587776831, rs121918420, rs121918421, rs121918422, rs121918423, rs121918424, rs121434584, rs80356485, rs80356479, rs80356483, rs113994130, rs113994131, rs113993978, rs113993979, rs113993986, rs113993973, rs113993975, rs387906505, rs113993976, rs199948078, rs193922697, rs397514631, rs1325298827, rs140869027, rs398123169, rs398123171, rs398123172, rs369532274, rs398123173, rs398123174, rs398124208, rs398124209, rs398124210, rs587777375, rs527236146, rs527236147, rs370652040, rs143137713, rs727502871, rs369531647, rs730880022, rs730880372, rs201958741, rs730882148, rs796051877, rs752921215, rs786204489, rs781580050, rs771961377, rs370792293, rs786204678, rs786204616, rs786204481, rs786204490, rs776977863, rs786204595, rs786204655, rs769960481, rs767739769, rs786204723, rs755117847, rs764920787, rs780226142, rs367727229, rs786204467, rs201185475, rs786204614, rs786204661, rs767882689, rs528367092, rs370950728, rs757700700, rs786204532, rs201896815, rs543300039, rs786204507, rs786204646, rs786204517, rs770610356, rs770276275, rs147804176, rs772883420, rs140826989, rs786204720, rs786204727, rs781088002, rs549029029, rs368438393, rs536906561, rs374143224, rs757111744, rs786204621, rs786204645, rs786204549, rs780321415, rs786204561, rs202143236, rs786204785, rs374470794, rs771427957, rs150547274, rs113994127, rs193186112, rs794727706, rs794729208, rs797045008, rs192044702, rs797044877, rs150382575, rs201157731, rs863224023, rs869312919, rs764622267, rs878855017, rs1800312, rs886039883, rs886041476, rs779556619, rs757617999, rs143523371, rs886042086, rs201201443, rs886042358, rs761317813, rs142752477, rs142967546, rs766074609, rs770590394, rs144016984, rs886043148, rs778032599, rs886043343, rs886043399, rs886043920, rs775450536, rs755253527, rs758004953, rs766935302, rs886058900, rs1057516189, rs1057516870, rs1057517057, rs1057516567, rs1057517347, rs1057517243, rs777857395, rs1057516868, rs757967016, rs1057516308, rs1057517344, rs1057516397, rs1057516471, rs748789700, rs763554006, rs1057516741, rs1057516948, rs1057516913, rs1057516570, rs1057516563, rs1057516708, rs1057516666, rs1057517136, rs1057517425, rs1057516984, rs1057516254, rs531425980, rs1057516793, rs1057516306, rs1057516952, rs1057516513, rs1057517079, rs764318570, rs1057517017, rs867341758, rs745757264, rs1057517405, rs1057516994, rs1057517315, rs1057516529, rs1057517001, rs1057517058, rs1057517067, rs1057516598, rs753181427, rs1057517442, rs747513238, rs752848974, rs1057516259, rs1057516612, rs749560316, rs1057516468, rs1057517400, rs752851284, rs1057516329, rs1057516629, rs1057517145, rs1057517361, rs1057516349, rs772194378, rs1057516367, rs1057517227, rs1057516674, rs1057517008, rs1057516630, rs749323139, rs1057516858, rs80356486, rs1055945806, rs1057516251, rs1057517165, rs1057516503, rs1057517381, rs1057517320, rs376229714, rs1057516600, rs762260678, rs1057516290, rs1057516785, rs1057516520, rs757458607, rs1057516546, rs1057517286, rs1057516215, rs560575383, rs747610090, rs892129065, rs1057517267, rs1057516426, rs377544304, rs1057516826, rs1057517105, rs753269119, rs778418246, rs1057516928, rs1057516581, rs1057516327, rs1057516328, rs1057516277, rs1057516363, rs777275355, rs1057516924, rs1057517148, rs1057516704, rs1057516341, rs763359208, rs1057518106, rs780883601, rs775685508, rs751952198, rs148842275, rs766733439, rs1064795728, rs1064795749, rs1064796703, rs1064794288, rs375470378, rs1064796706, rs1064797157, rs764567774, rs145166656, rs767409395, rs150911354, rs757681143, rs200483245, rs771069887, rs114073621, rs1553690406, rs774465102, rs758504480, rs143670942, rs1422043936, rs373517016, rs1553188832, rs771853367, rs1553185403, rs12118058, rs1553193463, rs370247862, rs1555602832, rs1555560204, rs1555603264, rs61736895, rs763016962, rs1556016365, rs1555601828, rs991082382, rs1555599713, rs1555136390, rs754134578, rs752002666, rs1553183220, rs1307281520, rs1479740763, rs1555989523, rs1555600102, rs142917638, rs1553185302, rs1553684545, rs1555601234, rs373345919, rs1553183359, rs1556014969, rs760589837, rs776733170, rs1553185474, rs1553186489, rs757987101, rs140095668, rs1188310172, rs1555467052, rs1555467557, rs748363083, rs763027848, rs1555600730, rs1555598796, rs1555988479, rs1556000892, rs1556007472, rs1556002344, rs764591009, rs769172044, rs1555328280, rs1354714214, rs1553183148, rs930434905, rs751112302, rs878959417, rs775498547, rs1443902661, rs1553192718, rs1293077915, rs1553193529, rs1553181400, rs1215043175, rs1553185418, rs1553185883, rs1553183178, rs1553186577, rs1553188559, rs750492389, rs1553188849, rs1432024176, rs1289339080, rs767346840, rs1553190751, rs1553184620, rs755747010, rs1553193486, rs1553184657, rs1327892944, rs1553187237, rs1553185905, rs1553193530, rs1553186613, rs1553187957, rs773095419, rs1553189468, rs1185321132, rs770438130, rs1553190316, rs1555133248, rs1462767117, rs1555136752, rs1163710370, rs1555136208, rs1555136540, rs750857876, rs1555136459, rs187131358, rs1555559741, rs1411037881, rs1485038937, rs1555598687, rs1555598880, rs1555599171, rs1555599586, rs1555599637, rs1555598869, rs1555599644, rs1555599594, rs1555599619, rs1555600050, rs1555599960, rs766680292, rs1555600166, rs996798292, rs1555600575, rs770780848, rs1555601780, rs765362308, rs1209887739, rs1555603216, rs1428358278, rs776948121, rs1555601662, rs1555603131, rs192679574, rs1555559279, rs1189630738, rs1555559991, rs1555560140, rs1555560185, rs1555598460, rs1555598544, rs1555598824, rs1555600111, rs778068209, rs1555600846, rs747150965, rs753505203, rs914396317, rs1555602692, rs1344266804, rs1555558920, rs1457925404, rs1555598800, rs1207988953, rs1555599667, rs1555600061, rs1434761678, rs759518659, rs1555601802, rs1555602703, rs1555602860, rs1555603434, rs1555995635, rs1567825175, rs1567705064, rs1567838823, rs1559637815, rs1557794150, rs756175624, rs146195866, rs781511110, rs759657964, rs1563131309, rs746120293, rs746348793, rs770037766, rs1270523244, rs1567706564, rs1567260747, rs201056962, rs764539267, rs765718882, rs1568619900, rs1569298646, rs1569344469, rs1567828977, rs561646250, rs1569297379, rs1210626722, rs1569300538, rs1256371424, rs747947171, rs1565538121, rs1565536363, rs1569297427, rs1567830317, rs764750389, rs1555603219, rs1567829962, rs1430517061, rs1205507761, rs149244943, rs748262135, rs1556299510, rs780246932, rs752961445, rs1315020035, rs767095759, rs756205397, rs149096315, rs1242540921, rs371296953, rs1303617854, rs766536350, rs1414146587, rs1567835775, rs1567835781, rs1570433472, rs1570508240, rs763216519, rs1598585402, rs1598578030, rs1598581682, rs1592412131, rs1571232214, rs1571232404, rs1571243699, rs1570433686, rs1570438459, rs765367405, rs1206517501, rs1239498701, rs774926455, rs1480850606, rs777589783, rs768604948, rs1592410003, rs1592818641, rs760187622, rs539898848, rs755612674, rs1597988331, rs775826449, rs1232001857, rs200210219, rs1598575231, rs141533320, rs1598582021, rs764670084, rs1448515860, rs886043882, rs1601685358, rs1601689006, rs1601739229, rs1601781024, rs1601781031, rs539203557, rs1212333772, rs372079212, rs765425704, rs776545903, rs1597989985, rs1598592604, rs1597989983, rs1556257317, rs1475559733, rs1598577666, rs1598580364, rs1596687577, rs1372753669, rs1601714299, rs1601747985, rs1601776276, rs1601760689, rs1601763099, rs1571232325, rs1570445130, rs370202718, rs1570487381, rs1576183537, rs1592408302, rs1592409633, rs150483902, rs1596687555, rs762089284, rs1597990895, rs1597990906, rs1597991608, rs1597991733, rs1601687244, rs1601748216, rs1601776523, rs1571243862, rs1592409631, rs1601780766, rs2039275157, rs2039287628, rs1567702823, rs756632286, rs1597990921, rs1576137368, rs1322527832, rs1596047883, rs1650040391, rs780694207, rs758182700, rs1652018859, rs1652879873, rs1654912428, rs1703086906, rs781198373, rs1703800818, rs1490328834, rs1804721948, rs1311913891, rs2058363627, rs1005687078, rs2058388882, rs2058407169, rs2058421657, rs138893744, rs758943884, rs2056023296, rs1401928680, rs764401169, rs2056091436, rs915675670, rs2039038743, rs2039117815, rs2039190879, rs2039192386, rs2039213824, rs766398206, rs2039287852, rs2047467477, rs2047492649, rs2047492720, rs765360653, rs111911126, rs1219299972, rs2047834385, rs2039261208, rs1262967083, rs2047514376, rs2048391185, rs2058357329, rs1598580407, rs2039250790, rs755305465, rs766448695	10323254, 27604308, 10923042, 9758626, 27604308, 9758626, 27604308, 10482962
Hepatoblastoma	Hepatoblastoma	rs137854578, rs28934573, rs121913412
Hyperlipidemia	Hyperlipidemia	rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075
Hypertension	Hypertensive disease	rs13306026, rs13333226
Neutropenia	Neutropenia	rs879253882
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Eyelid xanthoma	Eyelid Xanthoma
Glomerulosclerosis	Focal glomerulosclerosis
Gout	Gout
Hyperuricemia	Hyperuricemia
Hypoglycemia	Hypoglycemia
Lipidemia retinalis	Lipidemia retinalis
Liver carcinoma	Liver carcinoma
Nephrolithiasis	Nephrolithiasis
Oral ulcer	Oral Ulcer
Pancreatitis	Pancreatitis, Pancreatitis, Chronic	rs61734659
Spider hemangioma	Spider hemangioma
Xanthoma	Xanthoma
Xanthomatosis	Xanthomatosis