GenTIGS

Solute carrier family 2 member 2 (SLC2A2) Associated conditions: 1. Fanconi-Bickel syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000340.2	NP_000331.1	NC_000003.12	(170996346..171026719, complement)	Reference GRCh38.p14 Primary Assembly	P11168
2	REVIEWED	NM_001278658.2	NP_001265587.1	NC_000003.12	(170996346..171026719, complement)	Reference GRCh38.p14 Primary Assembly	P11168
3	REVIEWED	NM_001278659.2	NP_001265588.1	NC_000003.12	(170996346..171026719, complement)	Reference GRCh38.p14 Primary Assembly	P11168

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1118 reference articles

Variant Information Solute carrier family 2 member 2 (SLC2A2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Solute carrier family 2 member 2 (SLC2A2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Solute carrier family 2 member 2 (SLC2A2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	fructose transmembrane transporter activity	Function	8457197 23396969 28083649 29548810
2	Homo sapiens	IDA	enables	galactose transmembrane transporter activity	Function	8457197
3	Homo sapiens	IEA	located_in	cytoplasm	Component	-
4	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
5	Homo sapiens	IDA	located_in	plasma membrane	Component	28083649
6	Homo sapiens	IEA	located_in	plasma membrane	Component	-
7	Homo sapiens	TAS	located_in	plasma membrane	Component	8027028
8	Homo sapiens	IBA	is_active_in	brush border	Component	-
9	Homo sapiens	IEA	located_in	brush border	Component	-
10	Homo sapiens	IEA	located_in	cell-cell junction	Component	-
11	Homo sapiens	TAS	involved_in	carbohydrate metabolic process	Process	8027028
12	Homo sapiens	TAS	enables	hexose transmembrane transporter activity	Function	-
13	Homo sapiens	IDA	involved_in	fructose transmembrane transport	Process	8457197 23396969 28083649 29548810
14	Homo sapiens	IDA	involved_in	galactose transmembrane transport	Process	8457197
15	Homo sapiens	IEA	located_in	membrane	Component	-
16	Homo sapiens	TAS	located_in	membrane	Component	8027028
17	Homo sapiens	IEA	located_in	apical plasma membrane	Component	-
18	Homo sapiens	ISS	located_in	apical plasma membrane	Component	-
19	Homo sapiens	IEA	enables	transmembrane transporter activity	Function	-
20	Homo sapiens	IDA	enables	dehydroascorbic acid transmembrane transporter activity	Function	23396969
21	Homo sapiens	IEA	enables	dehydroascorbic acid transmembrane transporter activity	Function	-
22	Homo sapiens	IEA	involved_in	positive regulation of insulin secretion involved in cellular response to glucose stimulus	Process	-
23	Homo sapiens	IBA	enables	D-glucose transmembrane transporter activity	Function	-
24	Homo sapiens	IDA	enables	D-glucose transmembrane transporter activity	Function	8457197 23396969 28083649 29548810
25	Homo sapiens	IEA	enables	D-glucose transmembrane transporter activity	Function	-
26	Homo sapiens	TAS	enables	D-glucose transmembrane transporter activity	Function	8027028
27	Homo sapiens	IEA	involved_in	transmembrane transport	Process	-
28	Homo sapiens	IBA	involved_in	dehydroascorbic acid transport	Process	-
29	Homo sapiens	IDA	involved_in	dehydroascorbic acid transport	Process	23396969
30	Homo sapiens	IEA	involved_in	dehydroascorbic acid transport	Process	-
31	Homo sapiens	IBA	involved_in	D-glucose import across plasma membrane	Process	-
32	Homo sapiens	IDA	involved_in	D-glucose transmembrane transport	Process	8457197 23396969 28083649 29548810
33	Homo sapiens	IEA	involved_in	D-glucose transmembrane transport	Process	-
34	Homo sapiens	TAS	involved_in	D-glucose transmembrane transport	Process	8027028