Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC25A22 Gene

Aliases for SLC25A22 Gene

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

External Ids for SLC25A22 Gene

Previous GeneCards Identifiers for SLC25A22 Gene

  • GC11P000747
  • GC11P000400
  • GC11M000783
  • GC11M000784
  • GC11M000785
  • GC11M000608

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 Epileptic Encephalopathy, Early Infantile, 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 for SLC25A22 Gene

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

Additional gene information for SLC25A22 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A22 Gene

Genomics for SLC25A22 Gene

GeneHancer (GH) Regulatory Elements for SLC25A22 Gene

Promoters and enhancers for SLC25A22 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I000793 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.0 2008 4.8 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 ZNF766 GLIS2 ZNF207 PANO1 SLC25A22 GC11P000798 TMEM80 EPS8L2 ENSG00000255108 PIDD1 CRACR2B
GH11I000839 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 -45.4 -45448 7.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 TSPAN4 POLR2L GC11M000841 CD151 SNORA52 RPLP2 TMEM80 PIDD1 RIC8A BET1L
GH11I000836 Enhancer 1.1 ENCODE dbSUPER 11.4 -39.9 -39866 2.8 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 KLF7 SP3 SP5 GC11M000839 CD151 SNORA52 RPLP2 PIDD1 SLC25A22 CEND1 AP2A2 POLR2L PIR52875
GH11I000654 Enhancer 1 FANTOM5 ENCODE 11.1 +143.0 143014 0.9 FOXA2 MLX ARID4B RAD21 RARA THAP11 MIXL1 RXRA CEBPB MXD4 GC11P000654 TMEM80 CDHR5 EPS8L2 DEAF1 IRF7 TALDO1 ENSG00000255142 GATD1 LOC171391
GH11I001051 Enhancer 1 ENCODE dbSUPER 10.2 -252.9 -252923 0.3 RB1 ARID4B KLF17 SIN3A ZNF2 KLF5 ZNF48 RAD21 ZNF335 ARID2 MUC2 AP2A2 PIDD1 RPLP2 SLC25A22 CEND1 GC11P001047 PIR44225 LOC101927503
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A22 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A22 gene promoter:

Genomic Locations for SLC25A22 Gene

Genomic Locations for SLC25A22 Gene
chr11:790,475-798,333
(GRCh38/hg38)
Size:
7,859 bases
Orientation:
Minus strand
chr11:790,475-798,316
(GRCh37/hg19)

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 posLast=5555, isoforms=96, posLast=142142, posLast=188188, and posLast=286286

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:

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:0005280 hydrogen:amino acid symporter activity TAS --
GO:0005313 L-glutamate transmembrane transporter activity IDA 11897791
GO:0005314 high-affinity glutamate transmembrane transporter activity IBA --
GO:0015293 symporter activity IEA --
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 Model Products

Clone Products

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
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoplasm (4)
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 IBA,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 IEA --
GO:0006811 ion transport TAS --
GO:0006839 mitochondrial transport IBA --
GO:0015813 L-glutamate transport IDA 11897791
GO:0015992 proton transport IEA --
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 Full agonist, Agonist, Target 251
genes like me logo Genes that share compounds with SLC25A22: view

Transcripts for SLC25A22 Gene

Unigene Clusters for SLC25A22 Gene

Solute carrier family 25 (mitochondrial carrier: glutamate), member 22:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
SLC25A22

Expression for SLC25A22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SLC25A22 Gene



Protein tissue co-expression partners for SLC25A22 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC25A22 Gene:

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(4.3)
  • Liver(4.2)
  • Lung(4.2)
  • Muscle(4.1)

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

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 33
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia SLC25A22 33 34
  • 88.85 (n)
mouse
(Mus musculus)
Mammalia Slc25a22 33 16 34
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911440 33
  • 88.13 (n)
chicken
(Gallus gallus)
Aves SLC25A22 33 34
  • 78.47 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A22 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488953 33
  • 73.61 (n)
Str.12092 33
zebrafish
(Danio rerio)
Actinopterygii SLC25A22 (1 of 2) 34
  • 76 (a)
OneToMany
SLC25A22 (2 of 2) 34
  • 75 (a)
OneToMany
LOC571044 33
  • 73.66 (n)
wufa12h05 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8623 33
fruit fly
(Drosophila melanogaster)
Insecta CG18347 33 34
  • 65.32 (n)
CG12201 34
  • 52 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010293 33
  • 56.84 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F20D1.9 33
  • 55.56 (n)
F20D1.9 34
  • 51 (a)
ManyToMany
F55G1.5 34
  • 48 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGC1 34
  • 13 (a)
OneToMany
Species where no ortholog for SLC25A22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SLC25A22 Gene

Variants for SLC25A22 Gene

Sequence variations from dbSNP and Humsavar for SLC25A22 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1004989599 uncertain-significance, Early Infantile Epileptic Encephalopathy, Autosomal Recessive 796,196(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1006049177 uncertain-significance, Early Infantile Epileptic Encephalopathy, Autosomal Recessive 795,161(-) A/G/T 5_prime_UTR_variant
rs1015103828 uncertain-significance, Early Infantile Epileptic Encephalopathy, Autosomal Recessive 796,067(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1060502506 uncertain-significance, Early infantile epileptic encephalopathy 792,014(-) G/A coding_sequence_variant, synonymous_variant
rs1060502507 uncertain-significance, Early infantile epileptic encephalopathy 793,568(-) G/T coding_sequence_variant, missense_variant

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

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

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

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

Disorders for SLC25A22 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC25A22 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 mutations 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. 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 58
  2. 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 58
  3. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. (PMID: 15592994) Molinari F … Colleaux L (American journal of human genetics 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for SLC25A22 Gene

Sources for SLC25A22 Gene

Content
Loading form....