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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79751
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 25 member 22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC25A22
Synonyms (NCBI Gene) Gene synonyms aliases	DEE3, EIEE3, GC-1, GC1, NET44
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 201

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918334	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121918335	C>A	Pathogenic	Coding sequence variant, missense variant
rs141430143	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs141975755	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant
rs142220309	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146402942	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant
rs147840220	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199887745	G>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201089795	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374780430	G>A	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376015598	C>G,T	Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs573691331	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs587777243	C>G	Pathogenic	Coding sequence variant, missense variant
rs796053238	CA>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs796053242	AG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs797045969	G>A	Pathogenic	Stop gained, coding sequence variant
rs936639741	G>A	Pathogenic	Stop gained, coding sequence variant
rs1195505218	C>T	Pathogenic	Coding sequence variant, missense variant
rs1388811021	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1554965669	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(184)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001415	hsa-miR-16-5p	pSILAC	18668040
MIRT001332	hsa-miR-1-3p	pSILAC	18668040
MIRT001332	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT001415	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT718575	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT718574	hsa-miR-665	HITS-CLIP	19536157
MIRT718573	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT718572	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT718571	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT718570	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT718569	hsa-miR-4660	HITS-CLIP	19536157
MIRT718568	hsa-miR-203b-3p	HITS-CLIP	19536157
MIRT726548	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726547	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT001415	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726546	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT001332	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT718575	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT718574	hsa-miR-665	HITS-CLIP	19536157
MIRT718573	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT718572	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT718571	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT718570	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT718569	hsa-miR-4660	HITS-CLIP	19536157
MIRT718568	hsa-miR-203b-3p	HITS-CLIP	19536157
MIRT1355621	hsa-miR-1	CLIP-seq
MIRT1355622	hsa-miR-1226	CLIP-seq
MIRT1355623	hsa-miR-1273	CLIP-seq
MIRT1355624	hsa-miR-1273c	CLIP-seq
MIRT1355625	hsa-miR-1321	CLIP-seq
MIRT1355626	hsa-miR-15a	CLIP-seq
MIRT1355627	hsa-miR-15b	CLIP-seq
MIRT1355628	hsa-miR-16	CLIP-seq
MIRT1355629	hsa-miR-1827	CLIP-seq
MIRT1355630	hsa-miR-1909	CLIP-seq
MIRT1355631	hsa-miR-1915	CLIP-seq
MIRT1355632	hsa-miR-195	CLIP-seq
MIRT1355633	hsa-miR-2110	CLIP-seq
MIRT1355634	hsa-miR-2115	CLIP-seq
MIRT1355635	hsa-miR-29a	CLIP-seq
MIRT1355636	hsa-miR-29b	CLIP-seq
MIRT1355637	hsa-miR-29c	CLIP-seq
MIRT1355638	hsa-miR-3065-3p	CLIP-seq
MIRT1355639	hsa-miR-3144-5p	CLIP-seq
MIRT1355640	hsa-miR-3150a-3p	CLIP-seq
MIRT1355641	hsa-miR-3184	CLIP-seq
MIRT1355642	hsa-miR-3191	CLIP-seq
MIRT1355643	hsa-miR-335	CLIP-seq
MIRT1355644	hsa-miR-3607-3p	CLIP-seq
MIRT1355645	hsa-miR-3612	CLIP-seq
MIRT1355646	hsa-miR-3686	CLIP-seq
MIRT1355647	hsa-miR-3928	CLIP-seq
MIRT1355648	hsa-miR-423-5p	CLIP-seq
MIRT1355649	hsa-miR-424	CLIP-seq
MIRT1355650	hsa-miR-4270	CLIP-seq
MIRT1355651	hsa-miR-4292	CLIP-seq
MIRT1355652	hsa-miR-4308	CLIP-seq
MIRT1355653	hsa-miR-4435	CLIP-seq
MIRT1355654	hsa-miR-4441	CLIP-seq
MIRT1355655	hsa-miR-4480	CLIP-seq
MIRT1355656	hsa-miR-4495	CLIP-seq
MIRT1355657	hsa-miR-4501	CLIP-seq
MIRT1355658	hsa-miR-4502	CLIP-seq
MIRT1355659	hsa-miR-4652-5p	CLIP-seq
MIRT1355660	hsa-miR-4688	CLIP-seq
MIRT1355661	hsa-miR-4708-3p	CLIP-seq
MIRT1355662	hsa-miR-4722-3p	CLIP-seq
MIRT1355663	hsa-miR-4728-5p	CLIP-seq
MIRT1355664	hsa-miR-4739	CLIP-seq
MIRT1355665	hsa-miR-4756-5p	CLIP-seq
MIRT1355666	hsa-miR-4762-3p	CLIP-seq
MIRT1355667	hsa-miR-4778-5p	CLIP-seq
MIRT1355668	hsa-miR-497	CLIP-seq
MIRT1355669	hsa-miR-609	CLIP-seq
MIRT1355670	hsa-miR-634	CLIP-seq
MIRT1355671	hsa-miR-637	CLIP-seq
MIRT1355672	hsa-miR-646	CLIP-seq
MIRT1355673	hsa-miR-650	CLIP-seq
MIRT1355674	hsa-miR-661	CLIP-seq
MIRT1355623	hsa-miR-1273	CLIP-seq
MIRT1355625	hsa-miR-1321	CLIP-seq
MIRT1355629	hsa-miR-1827	CLIP-seq
MIRT1355631	hsa-miR-1915	CLIP-seq
MIRT1355675	hsa-miR-329	CLIP-seq
MIRT1355676	hsa-miR-3545-3p	CLIP-seq
MIRT1355645	hsa-miR-3612	CLIP-seq
MIRT1355677	hsa-miR-362-3p	CLIP-seq
MIRT1355678	hsa-miR-3941	CLIP-seq
MIRT1355650	hsa-miR-4270	CLIP-seq
MIRT1355653	hsa-miR-4435	CLIP-seq
MIRT1355654	hsa-miR-4441	CLIP-seq
MIRT1355655	hsa-miR-4480	CLIP-seq
MIRT1355661	hsa-miR-4708-3p	CLIP-seq
MIRT1355662	hsa-miR-4722-3p	CLIP-seq
MIRT1355664	hsa-miR-4739	CLIP-seq
MIRT1355665	hsa-miR-4756-5p	CLIP-seq
MIRT1355679	hsa-miR-4789-3p	CLIP-seq
MIRT1355680	hsa-miR-603	CLIP-seq
MIRT1355673	hsa-miR-650	CLIP-seq
MIRT1355681	hsa-miR-184	CLIP-seq
MIRT1355633	hsa-miR-2110	CLIP-seq
MIRT1355682	hsa-miR-2392	CLIP-seq
MIRT1355683	hsa-miR-3202	CLIP-seq
MIRT1355684	hsa-miR-3616-5p	CLIP-seq
MIRT1355685	hsa-miR-3647-5p	CLIP-seq
MIRT1355686	hsa-miR-3675-5p	CLIP-seq
MIRT1355687	hsa-miR-4271	CLIP-seq
MIRT1355688	hsa-miR-4283	CLIP-seq
MIRT1355689	hsa-miR-4505	CLIP-seq
MIRT1355690	hsa-miR-4533	CLIP-seq
MIRT1355691	hsa-miR-4633-5p	CLIP-seq
MIRT1355692	hsa-miR-4667-5p	CLIP-seq
MIRT1355693	hsa-miR-4700-5p	CLIP-seq
MIRT1355694	hsa-miR-4725-3p	CLIP-seq
MIRT1355695	hsa-miR-4731-5p	CLIP-seq
MIRT1355696	hsa-miR-4747-5p	CLIP-seq
MIRT1355697	hsa-miR-4795-5p	CLIP-seq
MIRT1355698	hsa-miR-573	CLIP-seq
MIRT1355699	hsa-miR-595	CLIP-seq
MIRT2105314	hsa-miR-1182	CLIP-seq
MIRT1355626	hsa-miR-15a	CLIP-seq
MIRT1355627	hsa-miR-15b	CLIP-seq
MIRT1355628	hsa-miR-16	CLIP-seq
MIRT1355631	hsa-miR-1915	CLIP-seq
MIRT1355632	hsa-miR-195	CLIP-seq
MIRT1355682	hsa-miR-2392	CLIP-seq
MIRT2105315	hsa-miR-3179	CLIP-seq
MIRT1355683	hsa-miR-3202	CLIP-seq
MIRT1355676	hsa-miR-3545-3p	CLIP-seq
MIRT1355644	hsa-miR-3607-3p	CLIP-seq
MIRT1355646	hsa-miR-3686	CLIP-seq
MIRT1355649	hsa-miR-424	CLIP-seq
MIRT1355651	hsa-miR-4292	CLIP-seq
MIRT2105316	hsa-miR-4717-3p	CLIP-seq
MIRT1355696	hsa-miR-4747-5p	CLIP-seq
MIRT1355667	hsa-miR-4778-5p	CLIP-seq
MIRT1355668	hsa-miR-497	CLIP-seq
MIRT1355669	hsa-miR-609	CLIP-seq
MIRT1355671	hsa-miR-637	CLIP-seq
MIRT1355672	hsa-miR-646	CLIP-seq
MIRT1355679	hsa-miR-4789-3p	CLIP-seq
MIRT1355626	hsa-miR-15a	CLIP-seq
MIRT1355627	hsa-miR-15b	CLIP-seq
MIRT1355628	hsa-miR-16	CLIP-seq
MIRT2329888	hsa-miR-185	CLIP-seq
MIRT1355630	hsa-miR-1909	CLIP-seq
MIRT1355631	hsa-miR-1915	CLIP-seq
MIRT1355632	hsa-miR-195	CLIP-seq
MIRT1355634	hsa-miR-2115	CLIP-seq
MIRT1355682	hsa-miR-2392	CLIP-seq
MIRT1355638	hsa-miR-3065-3p	CLIP-seq
MIRT1355641	hsa-miR-3184	CLIP-seq
MIRT1355676	hsa-miR-3545-3p	CLIP-seq
MIRT1355644	hsa-miR-3607-3p	CLIP-seq
MIRT1355684	hsa-miR-3616-5p	CLIP-seq
MIRT1355685	hsa-miR-3647-5p	CLIP-seq
MIRT1355686	hsa-miR-3675-5p	CLIP-seq
MIRT1355646	hsa-miR-3686	CLIP-seq
MIRT1355648	hsa-miR-423-5p	CLIP-seq
MIRT1355649	hsa-miR-424	CLIP-seq
MIRT2329889	hsa-miR-4269	CLIP-seq
MIRT1355688	hsa-miR-4283	CLIP-seq
MIRT2329890	hsa-miR-4306	CLIP-seq
MIRT1355655	hsa-miR-4480	CLIP-seq
MIRT1355657	hsa-miR-4501	CLIP-seq
MIRT1355658	hsa-miR-4502	CLIP-seq
MIRT2329891	hsa-miR-4525	CLIP-seq
MIRT1355690	hsa-miR-4533	CLIP-seq
MIRT1355691	hsa-miR-4633-5p	CLIP-seq
MIRT2329892	hsa-miR-4644	CLIP-seq
MIRT1355660	hsa-miR-4688	CLIP-seq
MIRT1355662	hsa-miR-4722-3p	CLIP-seq
MIRT1355663	hsa-miR-4728-5p	CLIP-seq
MIRT2329893	hsa-miR-4736	CLIP-seq
MIRT1355696	hsa-miR-4747-5p	CLIP-seq
MIRT1355666	hsa-miR-4762-3p	CLIP-seq
MIRT1355667	hsa-miR-4778-5p	CLIP-seq
MIRT1355679	hsa-miR-4789-3p	CLIP-seq
MIRT1355697	hsa-miR-4795-5p	CLIP-seq
MIRT1355668	hsa-miR-497	CLIP-seq
MIRT1355698	hsa-miR-573	CLIP-seq
MIRT1355699	hsa-miR-595	CLIP-seq
MIRT1355672	hsa-miR-646	CLIP-seq
MIRT1355674	hsa-miR-661	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005280	Function	Amino acid:proton symporter activity	IDA	11897791
GO:0005280	Function	Amino acid:proton symporter activity	TAS
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IDA	11897791
GO:0005313	Function	L-glutamate transmembrane transporter activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	11897791
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0015183	Function	L-aspartate transmembrane transporter activity	IBA
GO:0015293	Function	Symporter activity	IEA
GO:0015810	Process	Aspartate transmembrane transport	IBA
GO:0015813	Process	L-glutamate transmembrane transport	IBA
GO:0015813	Process	L-glutamate transmembrane transport	IDA	11897791
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0043490	Process	Malate-aspartate shuttle	IBA
GO:0043490	Process	Malate-aspartate shuttle	TAS
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070778	Process	L-aspartate transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
609302	19954	ENSG00000177542

Protein

UniProt ID

Q9H936

Protein name

Mitochondrial glutamate carrier 1 (GC-1) (Glutamate/H(+) symporter 1) (Solute carrier family 25 member 22)

Protein function

Mitochondrial glutamate/H(+) symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (PubMed:11897791). Plays a role in the control of glucose-stimulated insuli

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	4 → 98	Mitochondrial carrier protein	Family
PF00153	Mito_carr	99 → 216	Mitochondrial carrier protein	Family
PF00153	Mito_carr	221 → 311	Mitochondrial carrier protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in brain, liver, and pancreas. {ECO:0000269|PubMed:11897791}.

Sequence

MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSE
GYFGMYRGAAVNLTLVTPEKAIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIV
TTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSVEAPAAPRPTATQLTRDLLRS
RGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFG
IAQVVYFLGIAESLLGLLQDPQA

Sequence length

323

Interactions

View interactions

	Reactome
			Organic anion transporters

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 3	rs936639741, rs121918334, rs121918335, rs587777243	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs1554965669, rs936639741, rs121918334, rs797045969	N/A
Myoclonic Encephalopathy	early myoclonic encephalopathy	rs121918334, rs1565035177, rs1195505218, rs797045969, rs1554965669	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Malignant migrating partial seizures of infancy	malignant migrating partial seizures of infancy	N/A	N/A	GenCC
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colorectal Neoplasms	Stimulate	32271418
Cystic Fibrosis	Associate	39599636
Depressive Disorder Major	Stimulate	23261523
Developmental Disabilities	Associate	28255779
Epilepsies Myoclonic	Associate	15592994
Epilepsy Absence	Associate	28255779
Epilepsy Benign Neonatal	Associate	24596948
Epilepsy Benign Neonatal Autosomal Recessive	Associate	15592994
Epileptic Encephalopathy Early Infantile 3	Associate	31285529
Infant Newborn Diseases	Associate	28255779
Infantile Epileptic Dyskinetic Encephalopathy	Associate	31285529
Seizures	Associate	15592994, 24596948, 28255779, 31285529

SLC25A22 (solute carrier family 25 member 22)