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The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] See more...
Aliases for SLC7A2 Gene
Aliases for SLC7A2 Gene
External Ids for SLC7A2 Gene
- HGNC: 11060
- NCBI Entrez Gene: 6542
- Ensembl: ENSG00000003989
- OMIM®: 601872
- UniProtKB/Swiss-Prot: P52569
Previous HGNC Symbols for SLC7A2 Gene
- ATRC2
Previous GeneCards Identifiers for SLC7A2 Gene
- GC08P017289
- GC08P017475
- GC08P017406
- GC08P017440
- GC08P017354
- GC08P015899
Summaries for SLC7A2 Gene
-
The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GeneCards Summary for SLC7A2 Gene
SLC7A2 (Solute Carrier Family 7 Member 2) is a Protein Coding gene. Diseases associated with SLC7A2 include Lysinuric Protein Intolerance. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. 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 Summary for SLC7A2 Gene
-
Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.
Additional gene information for SLC7A2 Gene
- HGNC (11060)
- NCBI Entrez Gene (6542)
- Ensembl (ENSG00000003989)
- OMIM® (601872)
- UniProtKB/Swiss-Prot (P52569)
- Open Targets Platform(ENSG00000003989)
- Monarch Initiative
- Search for SLC7A2 at DataMed
- Search for SLC7A2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC7A2 Gene
Genomics for SLC7A2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC7A2 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 SLC7A2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC7A2
- Top Transcription factor binding sites by QIAGEN in the SLC7A2 gene promoter:
-
- Chx10
- E2F
- E2F-1
- E2F-2
- E2F-3a
- Nkx2-5
Genomic Locations for SLC7A2 Gene
Latest Assembly
- chr8:17,494,349-17,570,573
- (GRCh38/hg38)
- Size:
- 76,225 bases
- Orientation:
- Plus strand
Previous Assembly
- chr8:17,354,597-17,428,075
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 73,479 bases
- Orientation:
- Plus strand
- chr8:17,354,597-17,428,082
- (GRCh37/hg19 by Ensembl)
- Size:
- 73,486 bases
- Orientation:
- Plus strand
Genomic View for SLC7A2 Gene
Genes around SLC7A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p22 by HGNC
- 8p22 by Entrez Gene
- 8p22 by Ensembl
SLC7A2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC7A2 Gene
Proteins for SLC7A2 Gene
-
Protein details for SLC7A2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P52569-CTR2_HUMAN
- Recommended name:
- Cationic amino acid transporter 2
- Protein Accession:
- P52569
- B7ZL54
- O15291
- O15292
- Q14CQ6
- Q6NSZ7
- Q86TC6
Protein attributes for SLC7A2 Gene
- Size:
- 658 amino acids
- Molecular mass:
- 71673 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH69648.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI04906.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI13662.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI43584.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for SLC7A2 Gene
Post-translational modifications for SLC7A2 Gene
Other Protein References for SLC7A2 Gene
Antibodies for research
- LifeSpan BioSciences SLC7A2 Antibody (LS-A9309) and SLC7A2 Antibody (LS-A9306)
- Novus Biologicals Antibodies for SLC7A2
-
Abcam antibodies for SLC7A2
- Invitrogen Antibodies for SLC7A2 (AFLGC-Slc7a2)
-
Biorbyt antibodies for SLC7A2
-
Boster Bio Antibodies for SLC7A2
Protein products for research
-
OriGene Purified Proteins for SLC7A2
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC7A2
- Origene Custom Protein Services for SLC7A2
- antibodies-online: Show 5 available SLC7A2 Proteins ranked by validation data
- Compare Top SLC7A2 Proteins
-
Quality Products:
-
Abcam proteins for SLC7A2
Assay products for research
No data available for DME Specific Peptides for SLC7A2 Gene
Domains & Families for SLC7A2 Gene
Gene Families for SLC7A2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Protein Domains for SLC7A2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC7A2 Gene
- GenScript: Design optimal peptide antigens:
-
- Solute carrier family 7 member 2 (CTR2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P52569UniProtKB/Swiss-Prot:
CTR2_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.
Function for SLC7A2 Gene
Molecular function for SLC7A2 Gene
- UniProtKB/Swiss-Prot Function:
- Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.
- GENATLAS Biochemistry:
- solute carrier family 7,member A2,high affinity sodium independent,cationic amino-acid transporter,expressed in stomach liver,skeletal muscle,skin,brain and lung,y+ type
Phenotypes From GWAS Catalog for SLC7A2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000064 | L-ornithine transmembrane transporter activity | IBA | 21873635 |
| GO:0015171 | amino acid transmembrane transporter activity | IDA,TAS | -- |
| GO:0015174 | basic amino acid transmembrane transporter activity | TAS | 8954799 |
| GO:0015179 | L-amino acid transmembrane transporter activity | IDA | -- |
| GO:0015181 | arginine transmembrane transporter activity | IBA | 21873635 |
Phenotypes for SLC7A2 Gene
- MGI mutant phenotypes for SLC7A2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SLC7A2:
-
- no effect
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased nuclei size in G2M
- Increased epidermal growth factor (EGF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased Sindbis virus (SINV) infection
Animal Models for SLC7A2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC7A2 - Starting at $85 >
- * SLC7A2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC7A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC7A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC7A2
miRNA for SLC7A2 Gene
- miRTarBase miRNAs that target SLC7A2
-
- mmu-miR-17-5p (MIRT010018)
- mmu-miR-340-5p (MIRT010592)
- hsa-miR-9-5p (MIRT021331)
- hsa-miR-192-5p (MIRT026256)
- hsa-miR-101-3p (MIRT027260)
- hsa-miR-24-3p (MIRT030407)
- hsa-miR-423-5p (MIRT038121)
- hsa-miR-30c-2-3p (MIRT038694)
- hsa-miR-615-3p (MIRT040049)
- hsa-miR-124-5p (MIRT105334)
- hsa-miR-410-3p (MIRT105335)
- hsa-miR-545-5p (MIRT105336)
- hsa-miR-574-5p (MIRT105337)
- hsa-miR-1238-5p (MIRT105338)
- hsa-miR-4255 (MIRT105339)
- hsa-miR-3659 (MIRT105340)
- hsa-miR-4658 (MIRT105341)
- hsa-miR-4758-5p (MIRT105342)
- hsa-miR-6790-5p (MIRT105344)
- hsa-miR-7849-3p (MIRT105345)
- hsa-miR-29b-2-5p (MIRT322220)
- hsa-miR-6790-3p (MIRT363413)
- hsa-miR-3120-3p (MIRT409224)
- hsa-miR-8081 (MIRT554160)
- hsa-miR-6853-3p (MIRT554161)
- hsa-miR-1206 (MIRT554162)
- hsa-miR-144-3p (MIRT554163)
- hsa-miR-582-5p (MIRT554164)
- hsa-miR-651-5p (MIRT561557)
- hsa-miR-3117-3p (MIRT561558)
- hsa-miR-5007-3p (MIRT565570)
- hsa-miR-499a-3p (MIRT565571)
- hsa-miR-27b-3p (MIRT565572)
- hsa-miR-27a-3p (MIRT565573)
- hsa-miR-513a-5p (MIRT565574)
- hsa-miR-598-3p (MIRT565575)
- mmu-miR-509-5p (MIRT580870)
- mmu-miR-129-2-3p (MIRT597220)
- mmu-miR-129-1-3p (MIRT597221)
- mmu-miR-3085-3p (MIRT597222)
- mmu-miR-3064-5p (MIRT597223)
- mmu-miR-5133 (MIRT597224)
- mmu-miR-28c (MIRT597225)
- mmu-miR-28b (MIRT597226)
- mmu-miR-3470a (MIRT597227)
- mmu-miR-1896 (MIRT601603)
- hsa-miR-3680-3p (MIRT653405)
- hsa-miR-4446-5p (MIRT653406)
- hsa-miR-5006-3p (MIRT653407)
- hsa-miR-4755-5p (MIRT653408)
- hsa-miR-4666b (MIRT653409)
- hsa-miR-5011-3p (MIRT653410)
- hsa-miR-452-3p (MIRT653411)
- hsa-miR-3124-3p (MIRT653412)
- hsa-miR-205-5p (MIRT653413)
- hsa-miR-6866-3p (MIRT653414)
- hsa-miR-188-5p (MIRT653415)
- mmu-miR-3110-3p (MIRT791261)
- mmu-miR-466f-3p (MIRT791441)
- mmu-miR-466q (MIRT791584)
- mmu-miR-467f (MIRT791723)
- mmu-miR-488-5p (MIRT791770)
- mmu-miR-669c-3p (MIRT791892)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC7A2
- Browse OriGene Inhibitory RNA Products For SLC7A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A2
Clone products for research
- Applied Biological Materials (abm): Clones for SLC7A2 - Starting at $45 >
- * SLC7A2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG216003
- MG217580
- MR216003
- MR216003L3
- MR216003L4
- MR217580
- MR217580L3
- MR217580L4
- RC210214
- RC210214L3
- RC210214L4
- RC224871
- RC224871L3
- RC224871L4
- RC228543
- RC228543L3
- RC228543L4
- RG210214
- RG224871
- RG228543
- RR200308
- RR200308L3
- RR200308L4
- RR200309
- RR200309L3
- RR200309L4
- MR216003L3V
- MR216003L4V
- MR217580L3V
- MR217580L4V
- RC210214L3V
- RC210214L4V
- RC224871L3V
- RC224871L4V
- RC228543L3V
- RC228543L4V
- RR200308L3V
- RR200308L4V
- RR200309L3V
- RR200309L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC7A2
- Addgene plasmids for SLC7A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC7A2
Cell Lines for research
-
Horizon Cell Lines for SLC7A2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC7A2 Gene
Localization for SLC7A2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC7A2 Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Cell Junctions (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 8954799 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030054 | cell junction | IDA | -- |
Pathways & Interactions for SLC7A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 2 | Amino acid transport across the plasma membrane | ||
Pathways by source for SLC7A2 Gene
Interacting Proteins for SLC7A2 Gene
GPS-Prot Interaction Network for SLC7A2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006865 | amino acid transport | TAS | -- |
| GO:0015807 | L-amino acid transport | IDA | -- |
| GO:0015809 | arginine transport | IEA | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
| GO:0089718 | amino acid import across plasma membrane | IDA | -- |
No data available for SIGNOR curated interactions for SLC7A2 Gene
Transcripts for SLC7A2 Gene
mRNA/cDNA for SLC7A2 Gene
- 5 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000004531 7560 nts (view in UCSC)
- ENST00000398090 7557 nts (view in UCSC)
- ENST00000470360 7638 nts (view in UCSC)
- ENST00000494857 7615 nts (view in UCSC)
- ENST00000522656 2274 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC7A2 - Starting at $85 >
- * SLC7A2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC7A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC7A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC7A2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC7A2
- Browse OriGene Inhibitory RNA Products For SLC7A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A2
Clone products for research
- Applied Biological Materials (abm): Clones for SLC7A2 - Starting at $45 >
- * SLC7A2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG216003
- MG217580
- MR216003
- MR216003L3
- MR216003L4
- MR217580
- MR217580L3
- MR217580L4
- RC210214
- RC210214L3
- RC210214L4
- RC224871
- RC224871L3
- RC224871L4
- RC228543
- RC228543L3
- RC228543L4
- RG210214
- RG224871
- RG228543
- RR200308
- RR200308L3
- RR200308L4
- RR200309
- RR200309L3
- RR200309L4
- MR216003L3V
- MR216003L4V
- MR217580L3V
- MR217580L4V
- RC210214L3V
- RC210214L4V
- RC224871L3V
- RC224871L4V
- RC228543L3V
- RC228543L4V
- RR200308L3V
- RR200308L4V
- RR200309L3V
- RR200309L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC7A2
- Addgene plasmids for SLC7A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC7A2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - |
Relevant External Links for SLC7A2 Gene
- GeneLoc Exon Structure for
- SLC7A2
Expression for SLC7A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
- Placenta (Extraembryonic Tissues)
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
- Mesothelial Cells Hepatic Mesenchyme
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
- Blood (Hematopoietic System)
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
-
Trophoblast (Extraembryonic Tissues)
- Mural Trophectoderm Cells Mural Trophectoderm
- Eye (Sensory Organs)
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- NULL (Uncategorized)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Brain (Nervous System)
- Neurons
-
Thyroid (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for SLC7A2 Gene
This gene is overexpressed in Liver (x8.2), Muscle - Skeletal (x7.5), and Ovary (x4.9).
This gene is overexpressed in Liver (22.6), Placenta (13.5), Testis (9.8), and Pancreas (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC7A2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC7A2
SOURCE GeneReport for Unigene cluster for SLC7A2 Gene:
Hs.448520mRNA Expression by UniProt/SwissProt for SLC7A2 Gene:
P52569-CTR2_HUMAN
Tissue specificity:
Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart.
Evidence on tissue expression from TISSUES for SLC7A2 Gene
- Liver(4.6)
- Muscle(4.6)
- Intestine(4.3)
- Thyroid gland(2.7)
- Pancreas(2.7)
- Nervous system(2.5)
- Heart(2.1)
Primer products for research
-
OriGene qPCR primer pairs for SLC7A2
-
OriGene qPCR primer pairs and template standards for SLC7A2
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A2 Gene
Orthologs for SLC7A2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC7A2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC7A2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc7a2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | SLC7A2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc7a2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC7A2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC7A2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC7A2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC7A2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc7a2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc7a2 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010563 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG7255 30 32 |
|
||
| CG5535 32 |
|
|
|||
| CG11128 32 |
|
|
|||
| CG13248 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | F23F1.6 30 32 |
|
||
| C50D2.2 32 |
|
|
|||
| B0454.6 32 |
|
|
|||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CAT2 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os12g0623500 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for SLC7A2 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)
- Baker's yeast (Saccharomyces cerevisiae)
- 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)
- Rainbow Trout (Oncorhynchus mykiss)
- 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)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for SLC7A2 Gene
- ENSEMBL:
- Gene Tree for SLC7A2 (if available)
- TreeFam:
- Gene Tree for SLC7A2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC7A2: view image
Paralogs for SLC7A2 Gene
Variants for SLC7A2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC7A2 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114454370 | Benign: not provided | 17,563,644(+) |
G/C NM_001370338.1(SLC7A2):c.1713G>C (p.Val571=) |
SYNONYMOUS | |
| rs148874201 | Benign: not provided | 17,558,317(+) |
C/T NM_001370338.1(SLC7A2):c.1218C>T (p.Asp406=) |
SYNONYMOUS | |
| rs150497905 | Benign: not provided | 17,561,961(+) |
C/T NM_001370338.1(SLC7A2):c.1522C>T (p.Leu508=) |
SYNONYMOUS | |
| rs1563481081 | Uncertain Significance: not provided | 17,558,366(+) |
T/C NM_001370338.1(SLC7A2):c.1267T>C (p.Ser423Pro) |
MISSENSE | |
| rs1134975 | - |
p.Cys376Phe |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2666848 | CNV | deletion | 23128226 |
| esv2736689 | CNV | deletion | 23290073 |
| esv2736690 | CNV | deletion | 23290073 |
| esv2736691 | CNV | deletion | 23290073 |
| esv2759600 | CNV | loss | 17122850 |
| esv2764066 | CNV | gain+loss | 21179565 |
| esv3409278 | CNV | duplication | 20981092 |
| esv34867 | CNV | loss | 17911159 |
| esv3616489 | CNV | loss | 21293372 |
| esv3616490 | CNV | loss | 21293372 |
| esv3891362 | CNV | loss | 25118596 |
| esv989082 | CNV | deletion | 20482838 |
| nsv1024271 | CNV | loss | 25217958 |
| nsv1118045 | CNV | deletion | 24896259 |
| nsv1121686 | CNV | deletion | 24896259 |
| nsv1136000 | CNV | deletion | 24896259 |
| nsv1145193 | CNV | deletion | 24896259 |
| nsv1151657 | CNV | deletion | 26484159 |
| nsv507445 | OTHER | sequence alteration | 20534489 |
| nsv516180 | CNV | loss | 19592680 |
| nsv610680 | CNV | loss | 21841781 |
| nsv8305 | CNV | loss | 18304495 |
| nsv831246 | CNV | gain | 17160897 |
| nsv831247 | CNV | gain | 17160897 |
| nsv956084 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.47;
71.64% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC7A2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A2 Gene
Disorders for SLC7A2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lysinuric protein intolerance |
|
|
Search SLC7A2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SLC7A2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A2 Gene
Publications for SLC7A2 Gene
- Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2). (PMID: 8954799) Hoshide R … Matsuda I (Genomics 1996) 2 3 4 23
- Human cationic amino acid transporters hCAT-1, hCAT-2A, and hCAT-2B: three related carriers with distinct transport properties. (PMID: 9174363) Closs EI … Förstermann U (Biochemistry 1997) 3 4 23
- L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 41
- 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
- The importance of cationic amino acid transporter expression in human skin. (PMID: 12787129) Schnorr O … Kolb-Bachofen V (The Journal of investigative dermatology 2003) 3 23
ExternalLinks
Products for SLC7A2 Gene
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- VectorBuilder Stable cell line generation for SLC7A2
- Addgene plasmids for SLC7A2
- antibodies-online: Show 8 available SLC7A2 Antibodies ranked by validation data
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- Quality Products:
- Horizon Cell Lines for SLC7A2
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- Boster Bio Antibodies for SLC7A2
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Sources for SLC7A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
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- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
- (105) NIH Rare Diseases
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- (115) NCBI Bookshelf
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- (146) GeneCopoeia
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- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
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