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 2010] See more...

Aliases for SLC25A22 Gene

Aliases for SLC25A22 Gene

  • Solute Carrier Family 25 Member 22 2 3 4 5
  • GC1 2 3 4
  • Solute Carrier Family 25 (Mitochondrial Carrier: Glutamate), Member 22 2 3
  • Mitochondrial Glutamate Carrier 1 3 4
  • Glutamate/H(+) Symporter 1 3 4
  • EIEE3 2 3
  • NET44 2 3
  • GC-1 3 4
  • SLC25A22 5
  • FLJ13044 2
  • DEE3 3

External Ids for SLC25A22 Gene

Previous GeneCards Identifiers for SLC25A22 Gene

  • GC11P000747
  • GC11P000400
  • GC11M000783
  • GC11M000784
  • GC11M000785
  • GC11M000608
  • GC11M000791
  • GC11M000792

Summaries for SLC25A22 Gene

Entrez Gene Summary for SLC25A22 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 2010]

GeneCards Summary for SLC25A22 Gene

SLC25A22 (Solute Carrier Family 25 Member 22) is a Protein Coding gene. Diseases associated with SLC25A22 include Developmental And Epileptic Encephalopathy 3 and Early Myoclonic Encephalopathy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include symporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A18.

UniProtKB/Swiss-Prot Summary for SLC25A22 Gene

  • Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A22 Gene

Genomics for SLC25A22 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A22 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A22 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A22

Top Transcription factor binding sites by QIAGEN in the SLC25A22 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • p300
  • p53
  • Pax-5
  • POU2F1
  • YY1

Genomic Locations for SLC25A22 Gene

Latest Assembly
chr11:790,475-798,281
(GRCh38/hg38)
Size:
7,807 bases
Orientation:
Minus strand

Previous Assembly
chr11:790,475-798,281
(GRCh37/hg19 by Entrez Gene)
Size:
7,807 bases
Orientation:
Minus strand

chr11:790,475-798,316
(GRCh37/hg19 by Ensembl)
Size:
7,842 bases
Orientation:
Minus strand

Genomic View for SLC25A22 Gene

Genes around SLC25A22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A22 Gene

Proteins for SLC25A22 Gene

  • Protein details for SLC25A22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H936-GHC1_HUMAN
    Recommended name:
    Mitochondrial glutamate carrier 1
    Protein Accession:
    Q9H936
    Secondary Accessions:
    • A8K366
    • C9J1H6
    • E9PJD3
    • E9PKB2
    • E9PL68
    • E9PN26
    • E9PNQ3
    • E9PP01
    • E9PR97
    • Q8TBU8

    Protein attributes for SLC25A22 Gene

    Size:
    323 amino acids
    Molecular mass:
    34470 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH24212.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC25A22 Gene

Post-translational modifications for SLC25A22 Gene

  • Ubiquitination at Lys55, Lys96, Lys100, Lys142, Lys188, and Lys286
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC25A22 Gene

Domains & Families for SLC25A22 Gene

Gene Families for SLC25A22 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A22 Gene

Suggested Antigen Peptide Sequences for SLC25A22 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 22 (GHC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H936

UniProtKB/Swiss-Prot:

GHC1_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A22: view

Function for SLC25A22 Gene

Molecular function for SLC25A22 Gene

UniProtKB/Swiss-Prot Function:
Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).

Phenotypes From GWAS Catalog for SLC25A22 Gene

Gene Ontology (GO) - Molecular Function for SLC25A22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IBA,IDA 11897791
GO:0005347 ATP transmembrane transporter activity IEA --
GO:0015183 L-aspartate transmembrane transporter activity IBA 21873635
GO:0015293 symporter activity IEA --
GO:0022857 transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC25A22: view
genes like me logo Genes that share phenotypes with SLC25A22: view

Human Phenotype Ontology for SLC25A22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC25A22

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A22

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A22 Gene

Localization for SLC25A22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A22 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A22 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A22: view

Pathways & Interactions for SLC25A22 Gene

genes like me logo Genes that share pathways with SLC25A22: view

Gene Ontology (GO) - Biological Process for SLC25A22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IBA 21873635
GO:0006811 ion transport TAS --
GO:0015810 aspartate transmembrane transport IBA 21873635
GO:0015813 L-glutamate transmembrane transport IBA,IDA 11897791
GO:0043490 malate-aspartate shuttle IBA 21873635
genes like me logo Genes that share ontologies with SLC25A22: view

No data available for SIGNOR curated interactions for SLC25A22 Gene

Drugs & Compounds for SLC25A22 Gene

(1) Drugs for SLC25A22 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Transporter 324
genes like me logo Genes that share compounds with SLC25A22: view

Transcripts for SLC25A22 Gene

mRNA/cDNA for SLC25A22 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
31 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A22

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A22 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - -
SP2: -
SP3: - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for SLC25A22 Gene

GeneLoc Exon Structure for
SLC25A22

Expression for SLC25A22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A22 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A22 Gene

This gene is overexpressed in Brain - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for SLC25A22 Gene

This gene is overexpressed in Nasal epithelium (21.5), Brain (20.0), and Retina (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A22 Gene



Protein tissue co-expression partners for SLC25A22 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A22

SOURCE GeneReport for Unigene cluster for SLC25A22 Gene:

Hs.99486

mRNA Expression by UniProt/SwissProt for SLC25A22 Gene:

Q9H936-GHC1_HUMAN
Tissue specificity: Highly expressed in most tissues.

Evidence on tissue expression from TISSUES for SLC25A22 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Liver(4.3)
  • Muscle(4.3)
  • Lung(4.2)
  • Pancreas(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A22 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SLC25A22: view

Primer products for research

Orthologs for SLC25A22 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A22 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A22 29
  • 99.15 (n)
Cow
(Bos Taurus)
Mammalia SLC25A22 29 30
  • 88.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc25a22 29 16 30
  • 88.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100911440 29
  • 88.13 (n)
Chicken
(Gallus gallus)
Aves SLC25A22 29 30
  • 78.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A22 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488953 29
  • 73.61 (n)
Str.12092 29
Zebrafish
(Danio rerio)
Actinopterygii SLC25A22 (1 of 2) 30
  • 76 (a)
OneToMany
SLC25A22 (2 of 2) 30
  • 75 (a)
OneToMany
LOC571044 29
  • 73.66 (n)
wufa12h05 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8623 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG18347 29 30
  • 65.32 (n)
ManyToMany
CG12201 30
  • 52 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010293 29
  • 56.84 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_F20D1.9 29
  • 55.56 (n)
F20D1.9 30
  • 51 (a)
ManyToMany
F55G1.5 30
  • 48 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGC1 30
  • 13 (a)
OneToMany
Species where no ortholog for SLC25A22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC25A22 Gene

ENSEMBL:
Gene Tree for SLC25A22 (if available)
TreeFam:
Gene Tree for SLC25A22 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A22: view image
Alliance of Genome Resources:
Additional Orthologs for SLC25A22

Paralogs for SLC25A22 Gene

(8) SIMAP similar genes for SLC25A22 Gene using alignment to 14 proteins:

  • GHC1_HUMAN
  • E9PI74_HUMAN
  • E9PJH7_HUMAN
  • E9PJY0_HUMAN
  • E9PQ36_HUMAN
  • E9PS95_HUMAN
  • K4DIA2_HUMAN
  • K4DIA8_HUMAN
  • K4DIB0_HUMAN
  • K4DIB2_HUMAN
  • K4DIB3_HUMAN
  • K4DIB4_HUMAN
  • K4DIB6_HUMAN
  • K4DIB8_HUMAN
genes like me logo Genes that share paralogs with SLC25A22: view

Variants for SLC25A22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A22 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1000865 Uncertain Significance: Early infantile epileptic encephalopathy with suppression bursts 792,562(-) G/A
NM_001191061.2(SLC25A22):c.578C>T (p.Thr193Met)
MISSENSE
1005536 Uncertain Significance: Early infantile epileptic encephalopathy with suppression bursts 792,619(-) G/A
NM_001191061.2(SLC25A22):c.521C>T (p.Thr174Ile)
MISSENSE
1008916 Uncertain Significance: Early infantile epileptic encephalopathy with suppression bursts 792,385(-) C/T
NM_001191061.2(SLC25A22):c.661G>A (p.Glu221Lys)
MISSENSE
1009143 Uncertain Significance: Early infantile epileptic encephalopathy with suppression bursts 792,725(-) C/T
NM_001191061.2(SLC25A22):c.415G>A (p.Ala139Thr)
MISSENSE
1014432 Uncertain Significance: Early infantile epileptic encephalopathy with suppression bursts 792,942(-) C/T
NM_001191061.2(SLC25A22):c.340G>A (p.Gly114Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A22 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC25A22 Gene

Variant ID Type Subtype PubMed ID
dgv1013n100 CNV gain 25217958
dgv182e199 CNV deletion 23128226
esv2759794 CNV loss 17122850
nsv1040044 CNV gain+loss 25217958
nsv1069539 CNV deletion 25765185
nsv1159791 CNV deletion 26073780
nsv469923 CNV loss 18288195
nsv552870 CNV loss 21841781
nsv552871 CNV loss 21841781
nsv8759 CNV gain 18304495
nsv951272 CNV deletion 24416366

Variation tolerance for SLC25A22 Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A22 Gene

Human Gene Mutation Database (HGMD)
SLC25A22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A22
Leiden Open Variation Database (LOVD)
SLC25A22

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A22 Gene

Disorders for SLC25A22 Gene

MalaCards: The human disease database

(21) MalaCards diseases for SLC25A22 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
developmental and epileptic encephalopathy 3
  • dee3
early myoclonic encephalopathy
  • epileptic seizures - myoclonic
early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
malignant migrating partial seizures of infancy
  • early infantile epileptic encephalopathy 14
ohtahara syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GHC1_HUMAN
  • Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. {ECO:0000269 PubMed:15592994}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC25A22

genes like me logo Genes that share disorders with SLC25A22: view

No data available for Genatlas for SLC25A22 Gene

Publications for SLC25A22 Gene

  1. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. (PMID: 19780765) Molinari F … Colleaux L (Clinical genetics 2009) 3 22 72
  2. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. (PMID: 15592994) Molinari F … Colleaux L (American journal of human genetics 2005) 3 4 72
  3. Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. (PMID: 11897791) Fiermonte G … Walker JE (The Journal of biological chemistry 2002) 2 3 4
  4. SLC25A22 is a novel gene for migrating partial seizures in infancy. (PMID: 24596948) Poduri A … Walsh CA (Annals of neurology 2013) 3 72
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SLC25A22 Gene

Sources for SLC25A22 Gene