Aliases for SLC7A4 Gene

Aliases for SLC7A4 Gene

  • Solute Carrier Family 7 Member 4 2 3 4 5
  • CAT-4 2 3 4
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 4 2 3
  • Solute Carrier Family 7 (Orphan Transporter), Member 4 2 3
  • Cationic Amino Acid Transporter 4 3 4
  • HCAT3 2 3
  • CAT4 3 4
  • VH 2 3
  • Solute Carrier Family 7, Member 4 2
  • Ig Heavy Chain Variable Region 3
  • VH 3 Family 3
  • SLC7A4 5

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 Rubeosis Iridis and Velocardiofacial Syndrome. 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 SLC7A3.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SLC7A4 Gene

Genomics for SLC7A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC7A4 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
GH22J021031 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 625 +0.2 190 2.3 HNRNPL JUND MTA2 HNRNPUL1 UBTF HMBOX1 EGR1 NR2F1 MCM7 VEZF1 SLC7A4 ENSG00000226872 MIR649 P2RX6P MED15 P2RX6 TOP3B THAP7-AS1
GH22J021041 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 10.1 -11.4 -11447 4.6 SP1 RFX1 SIX5 SMAD2 FOS LARP7 DDX20 ZNF143 ZIC2 PKNOX1 LRRC74B P2RX6P NONHSAG033354.2 lnc-SLC7A4-1 TRMT2A TOP3B THAP7-AS1 THAP7 DGCR8 LZTR1
GH22J021025 Enhancer 0.7 Ensembl ENCODE 24.2 +7.0 7039 1.6 SCRT2 MTA3 RUNX3 USF2 KLF1 ID3 MAX SLC7A4 P2RX6 ENSG00000226872 TUBA3FP lnc-THAP7-20
GH22J021026 Enhancer 0.5 Ensembl 24.6 +5.3 5339 1.4 TARDBP ZFHX2 POLR2A BHLHE40 GLIS1 KLF1 EGR2 SLC7A4 P2RX6P THAP7-AS1 ENSG00000226872 TUBA3FP lnc-THAP7-20 P2RX6
GH22J021029 Enhancer 0.5 Ensembl 25.3 +3.1 3098 1.5 ZBED1 MCM5 ZFHX2 HDAC8 EGR2 MCM2 ENSG00000226872 SLC7A4 TOP3B TUBA3FP lnc-THAP7-20 P2RX6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC7A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC7A4

Top Transcription factor binding sites by QIAGEN in the SLC7A4 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ER-alpha
  • HEN1
  • HNF-1A
  • HSF2
  • POU2F1
  • POU2F1a

Genomic Locations for SLC7A4 Gene

Genomic Locations for SLC7A4 Gene
chr22:21,028,718-21,032,840
(GRCh38/hg38)
Size:
4,123 bases
Orientation:
Minus strand
chr22:21,383,007-21,387,129
(GRCh37/hg19)
Size:
4,123 bases
Orientation:
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:
    O43246-CTR4_HUMAN
    Recommended name:
    Cationic amino acid transporter 4
    Protein Accession:
    O43246
    Secondary Accessions:
    • Q0P5U2
    • Q3KNQ6
    • Q4VC45
    • Q6IBY8
    • Q96H88

    Protein attributes for SLC7A4 Gene

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

neXtProt entry for SLC7A4 Gene

Post-translational modifications for SLC7A4 Gene

  • Glycosylation at Asn151, Asn195, Asn221, Asn500, and Asn601
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC7A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for SLC7A4
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC7A4

No data available for DME Specific Peptides for SLC7A4 Gene

Domains & Families for SLC7A4 Gene

Gene Families for SLC7A4 Gene

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

Protein Domains for SLC7A4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A4 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 7 member 4 (CTR4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43246

UniProtKB/Swiss-Prot:

CTR4_HUMAN :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
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

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

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 IBA 21873635
GO:0015174 basic amino acid transmembrane transporter activity TAS 9598310
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC7A4: view
genes like me logo Genes that share phenotypes with SLC7A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A4

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

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 SLC7A4 gene
Compartment Confidence
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
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

PathCards logo

SuperPathways for SLC7A4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006865 amino acid transport IEA,IBA 21873635
GO:0055085 transmembrane 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
D-Lysine Approved, Experimental Nutra Agonist, Full agonist, Target 0
Ornithine Approved Nutra 84
Arginine Investigational Nutra Agonist, Full agonist, Target 524
genes like me logo Genes that share compounds with SLC7A4: view

Transcripts for SLC7A4 Gene

mRNA/cDNA for SLC7A4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A4

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

No ASD Table

Relevant External Links for SLC7A4 Gene

GeneLoc Exon Structure for
SLC7A4

Expression for SLC7A4 Gene

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



Protein tissue co-expression partners for SLC7A4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC7A4

SOURCE GeneReport for Unigene cluster for SLC7A4 Gene:

Hs.197116

Evidence on tissue expression from TISSUES for SLC7A4 Gene

  • Nervous system(4.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with SLC7A4: view

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
Chimpanzee
(Pan troglodytes)
Mammalia SLC7A4 30 31
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC7A4 30 31
  • 83.79 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc7a4 30 17 31
  • 81.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc7a4 30
  • 81.63 (n)
Cow
(Bos Taurus)
Mammalia SLC7A4 30 31
  • 80.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC7A4 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC7A4 30 31
  • 73.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC7A4 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc7a4 30
  • 67.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc7a4 30 30 31
  • 64.74 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010567 30
  • 55.38 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG13248 30 32
  • 54.38 (n)
CG7255 31
  • 22 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C50D2.2 32
  • 40 (a)
F23F1.6 32
  • 37 (a)
B0454.6 32
  • 36 (a)
Y53F4B.12 31
  • 16 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HIP1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
ManyToMany
Species where no ortholog for SLC7A4 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)
  • 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for SLC7A4 (if available)
TreeFam:
Gene Tree for SLC7A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC7A4: view image

Paralogs for SLC7A4 Gene

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

  • CTR4_HUMAN
  • C9JM63_HUMAN
genes like me logo Genes that share paralogs with SLC7A4: view

Variants for SLC7A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC7A4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
722278 Likely Benign: not provided 21,030,824(-) C/T INTRON_VARIANT
741424 Likely Benign: not provided 21,031,492(-) G/A SYNONYMOUS_VARIANT
777667 Benign: not provided 21,031,138(-) G/C MISSENSE_VARIANT
778627 Likely Benign: not provided 21,029,782(-) T/TG FRAMESHIFT_VARIANT
784558 Benign: not provided 21,031,672(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC7A4 Gene

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
SLC7A4

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

Disorders for SLC7A4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
rubeosis iridis
velocardiofacial syndrome
  • digeorge syndrome
breast apocrine carcinoma
  • apocrine carcinoma of breast
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 23
  2. 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
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  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
  5. Association of serotonin and dopamine gene pathways with behavioral subphenotypes in dementia. (PMID: 20685009) Proitsi P … Powell JF (Neurobiology of aging 2012) 3

Products for SLC7A4 Gene

Sources for SLC7A4 Gene