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Aliases for SLC7A4 Gene

Aliases for SLC7A4 Gene

  • Solute Carrier Family 7 Member 4 2 3 4 5
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 4 2 3
  • Solute Carrier Family 7 (Orphan Transporter), Member 4 2 3
  • CAT-4 3 4
  • CAT4 3 4
  • Solute Carrier Family 7, Member 4 2
  • Cationic Amino Acid Transporter 4 3
  • Ig Heavy Chain Variable Region 3
  • VH 3 Family 3
  • HCAT3 3
  • VH 3

External Ids for SLC7A4 Gene

Previous GeneCards Identifiers for SLC7A4 Gene

  • GC22M018081
  • GC22M019707
  • GC22M021383
  • GC22M004651

Summaries for SLC7A4 Gene

GeneCards Summary for SLC7A4 Gene

SLC7A4 (Solute Carrier Family 7 Member 4) is a Protein Coding gene. Diseases associated with SLC7A4 include Velocardiofacial Syndrome and Chromophobe Adenoma. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and basic amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A1.

UniProtKB/Swiss-Prot for SLC7A4 Gene

  • Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).

Gene Wiki entry for SLC7A4 Gene

Additional gene information for SLC7A4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A4 Gene

Genomics for SLC7A4 Gene

GeneHancer (GH) Regulatory Elements for SLC7A4 Gene

Promoters and enhancers for SLC7A4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I021031 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 575.1 +0.1 145 2.2 HDGF HNRNPUL1 MEIS2 KLF1 EGR1 VEZF1 EZH2 MTA2 ZBED1 CBFA2T3 SLC7A4 ENSG00000226872 MIR649 P2RX6P MED15 P2RX6 TOP3B THAP7-AS1
GH22I021041 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.1 -11.4 -11441 4.6 PKNOX1 SMAD1 ATF1 ARID4B NEUROD1 SIN3A GLIS2 ZNF143 FOS ATF7 LRRC74B P2RX6P TOP3B THAP7-AS1 DGCR8 CCDC116 LZTR1 PPIL2 THAP7 TRMT2A
GH22I021025 Enhancer 0.5 ENCODE 24.2 +7.2 7206 1 MTA3 SCRT2 ID3 RUNX3 SLC7A4 P2RX6 ENSG00000226872 TUBA3FP
GH22I021036 Enhancer 1.1 Ensembl ENCODE 8.9 -5.1 -5075 2.1 HNRNPUL1 PKNOX1 ATF1 NEUROD1 SIN3A GATA2 E2F8 FOS ATF7 RXRA P2RX6P MED15 P2RX6 THAP7 THAP7-AS1 TOP3B SERPIND1 SLC7A4 MIR649 ENSG00000226872
GH22I021093 Enhancer 0.9 ENCODE 5.6 -61.1 -61057 1.2 ATF1 ARNT TCF12 ZNF766 E2F8 ATF7 CAVIN1 NCOA1 ZNF592 MBD2 LZTR1 PPIL2 CRKL TOP3B TRMT2A THAP7 LOC100420177 THAP7-AS1 ZDHHC8 SLC7A4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC7A4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC7A4 gene promoter:

Genomic Locations for SLC7A4 Gene

Genomic Locations for SLC7A4 Gene
4,123 bases
Minus strand

Genomic View for SLC7A4 Gene

Genes around SLC7A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A4 Gene

Proteins for SLC7A4 Gene

  • Protein details for SLC7A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cationic amino acid transporter 4
    Protein Accession:
    Secondary Accessions:
    • Q0P5U2
    • Q3KNQ6
    • Q4VC45
    • Q6IBY8
    • Q96H88

    Protein attributes for SLC7A4 Gene

    635 amino acids
    Molecular mass:
    68268 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC7A4 Gene

Post-translational modifications for SLC7A4 Gene

No Post-translational modifications

Other Protein References for SLC7A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC7A4 Gene

Domains & Families for SLC7A4 Gene

Gene Families for SLC7A4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC7A4 Gene


Suggested Antigen Peptide Sequences for SLC7A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
genes like me logo Genes that share domains with SLC7A4: view

Function for SLC7A4 Gene

Molecular function for SLC7A4 Gene

GENATLAS Biochemistry:
solute carrier family 7,member A4,high affinity sodium independent,cationic amino-acid transporter,y+ type
UniProtKB/Swiss-Prot Function:
Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).

Phenotypes From GWAS Catalog for SLC7A4 Gene

Gene Ontology (GO) - Molecular Function for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity IEA --
GO:0015174 basic amino acid transmembrane transporter activity TAS 9598310
genes like me logo Genes that share ontologies with SLC7A4: view
genes like me logo Genes that share phenotypes with SLC7A4: view

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC7A4 Gene

Localization for SLC7A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

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 SLC7A4 gene
Compartment Confidence
plasma membrane 4
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with SLC7A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC7A4 Gene

Pathways & Interactions for SLC7A4 Gene

SuperPathways for SLC7A4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 9598310
GO:0006810 transport TAS 9598310
GO:0006865 amino acid transport IEA --
GO:1990822 basic amino acid transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC7A4: view

No data available for Pathways by source and SIGNOR curated interactions for SLC7A4 Gene

Drugs & Compounds for SLC7A4 Gene

(3) Drugs for SLC7A4 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Target 70
L-Arginine Approved Nutra Full agonist, Agonist, Target 0
L-Lysine Approved Nutra Full agonist, Agonist, Target 0
genes like me logo Genes that share compounds with SLC7A4: view

Transcripts for SLC7A4 Gene

mRNA/cDNA for SLC7A4 Gene

Unigene Clusters for SLC7A4 Gene

Solute carrier family 7 (orphan transporter), member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A4 Gene

No ASD Table

Relevant External Links for SLC7A4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC7A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC7A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A4 Gene

This gene is overexpressed in Testis (x8.6).

Protein differential expression in normal tissues from HIPED for SLC7A4 Gene

This gene is overexpressed in Placenta (37.9) and Testis (31.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC7A4 Gene

Protein tissue co-expression partners for SLC7A4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC7A4 Gene:


SOURCE GeneReport for Unigene cluster for SLC7A4 Gene:


Evidence on tissue expression from TISSUES for SLC7A4 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SLC7A4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A4 Gene

Orthologs for SLC7A4 Gene

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

Orthologs for SLC7A4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC7A4 33 34
  • 99.27 (n)
(Canis familiaris)
Mammalia SLC7A4 33 34
  • 83.79 (n)
(Mus musculus)
Mammalia Slc7a4 33 16 34
  • 81.63 (n)
(Rattus norvegicus)
Mammalia Slc7a4 33
  • 81.63 (n)
(Bos Taurus)
Mammalia SLC7A4 33 34
  • 80.44 (n)
(Monodelphis domestica)
Mammalia SLC7A4 34
  • 77 (a)
(Gallus gallus)
Aves SLC7A4 33 34
  • 73.11 (n)
(Anolis carolinensis)
Reptilia SLC7A4 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a4 33
  • 67.58 (n)
(Danio rerio)
Actinopterygii slc7a4 33 33 34
  • 64.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010567 33
  • 55.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13248 35 33
  • 54.38 (n)
CG7255 34
  • 22 (a)
(Caenorhabditis elegans)
Secernentea C50D2.2 35
  • 40 (a)
F23F1.6 35
  • 37 (a)
B0454.6 35
  • 36 (a)
Y53F4B.12 34
  • 16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HIP1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for SLC7A4 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SLC7A4 Gene

Gene Tree for SLC7A4 (if available)
Gene Tree for SLC7A4 (if available)

Paralogs for SLC7A4 Gene

Paralogs for SLC7A4 Gene

(4) SIMAP similar genes for SLC7A4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC7A4: view

Variants for SLC7A4 Gene

Sequence variations from dbSNP and Humsavar for SLC7A4 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000016479 -- 21,034,170(-) A/C upstream_transcript_variant
rs1000843144 -- 21,029,393(-) G/A coding_sequence_variant, missense_variant
rs1000874126 -- 21,029,175(-) C/T coding_sequence_variant, synonymous_variant
rs1001300489 -- 21,028,271(-) A/G downstream_transcript_variant
rs1001820635 -- 21,033,207(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC7A4 Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv2678175 CNV deletion 23128226
esv2760719 CNV gain 21179565
esv2763693 CNV gain 21179565
esv3647304 CNV loss 21293372
esv3647305 CNV gain 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062280 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv3563 CNV deletion 18451855
nsv436864 CNV insertion 17901297
nsv471185 CNV loss 18288195
nsv523162 CNV loss 19592680
nsv588305 CNV loss 21841781
nsv588306 CNV gain 21841781
nsv828960 CNV loss 20364138
nsv834141 CNV loss 17160897
nsv834142 CNV gain 17160897

Variation tolerance for SLC7A4 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.14; 92.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC7A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A4 Gene

Disorders for SLC7A4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC7A4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • chromosome 22q11.2 deletion syndrome
chromophobe adenoma
  • chromophobe adenoma of the pituitary gland
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC7A4

genes like me logo Genes that share disorders with SLC7A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A4 Gene

Publications for SLC7A4 Gene

  1. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. (PMID: 9598310) Sperandeo MP … Sebastio G (Genomics 1998) 2 3 4 22 58
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  3. 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
  4. Analysis of the genomic organization of the human cationic amino acid transporters CAT-1, CAT-2 and CAT-4. (PMID: 11665818) Hammermann R … Racké K (Amino acids 2001) 2 3 58
  5. Association of serotonin and dopamine gene pathways with behavioral subphenotypes in dementia. (PMID: 20685009) Proitsi P … Powell JF (Neurobiology of aging 2012) 3 58

Products for SLC7A4 Gene

Sources for SLC7A4 Gene

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