GenTIGS

Solute carrier family 30 member 7 (SLC30A7) Associated conditions: 1. Joubert 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

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 173 reference articles

Variant Information Solute carrier family 30 member 7 (SLC30A7) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Solute carrier family 30 member 7 (SLC30A7)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	Golgi membrane	Component	-
2	Homo sapiens	IBA	enables	zinc ion transmembrane transporter activity	Function	-
3	Homo sapiens	IDA	enables	zinc ion transmembrane transporter activity	Function	15525635 15994300
4	Homo sapiens	IEA	enables	zinc ion transmembrane transporter activity	Function	-
5	Homo sapiens	IDA	located_in	cytoplasm	Component	17349999
6	Homo sapiens	IEA	located_in	cytoplasm	Component	-
7	Homo sapiens	IEA	located_in	mitochondrion	Component	-
8	Homo sapiens	ISS	located_in	mitochondrion	Component	-
9	Homo sapiens	IBA	is_active_in	Golgi apparatus	Component	-
10	Homo sapiens	IDA	located_in	Golgi apparatus	Component	17349999
11	Homo sapiens	IEA	located_in	Golgi apparatus	Component	-
12	Homo sapiens	IEA	involved_in	monoatomic ion transport	Process	-
13	Homo sapiens	IEA	involved_in	monoatomic cation transport	Process	-
14	Homo sapiens	IEA	involved_in	zinc ion transport	Process	-
15	Homo sapiens	IBA	involved_in	intracellular zinc ion homeostasis	Process	-
16	Homo sapiens	IEA	involved_in	intracellular zinc ion homeostasis	Process	-
17	Homo sapiens	IEA	enables	monoatomic cation transmembrane transporter activity	Function	-
18	Homo sapiens	NAS	located_in	vesicle membrane	Component	37553324
19	Homo sapiens	IEA	located_in	membrane	Component	-
20	Homo sapiens	IEA	located_in	sarcoplasmic reticulum	Component	-
21	Homo sapiens	IBA	is_active_in	cytoplasmic vesicle	Component	-
22	Homo sapiens	IEA	located_in	cytoplasmic vesicle	Component	-
23	Homo sapiens	IDA	located_in	vesicle	Component	17349999
24	Homo sapiens	IEA	located_in	sarcoplasmic reticulum membrane	Component	-
25	Homo sapiens	ISS	located_in	sarcoplasmic reticulum membrane	Component	-
26	Homo sapiens	IPI	enables	identical protein binding	Function	15994300
27	Homo sapiens	IEA	located_in	perinuclear region of cytoplasm	Component	-
28	Homo sapiens	IEA	involved_in	transmembrane transport	Process	-
29	Homo sapiens	IEA	involved_in	zinc ion transmembrane transport	Process	-
30	Homo sapiens	IBA	involved_in	zinc ion import into Golgi lumen	Process	-
31	Homo sapiens	IDA	involved_in	zinc ion import into Golgi lumen	Process	15525635 15994300
32	Homo sapiens	IEA	involved_in	zinc ion import into Golgi lumen	Process	-
33	Homo sapiens	IBA	is_active_in	Golgi cis cisterna membrane	Component	-
34	Homo sapiens	IDA	located_in	Golgi cis cisterna membrane	Component	15525635
35	Homo sapiens	IEA	located_in	Golgi cis cisterna membrane	Component	-