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SLC7A2 solute carrier family 7 member 2 [ Homo sapiens (human) ]

Gene ID: 6542, updated on 9-Jun-2020

Summary

Official Symbol
SLC7A2provided by HGNC
Official Full Name
solute carrier family 7 member 2provided by HGNC
Primary source
HGNC:HGNC:11060
See related
Ensembl:ENSG00000003989 MIM:601872
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAT2; ATRC2; HCAT2
Summary
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]
Expression
Broad expression in liver (RPKM 59.2), thyroid (RPKM 35.6) and 15 other tissues See more
Orthologs

Genomic context

See SLC7A2 in Genome Data Viewer
Location:
8p22
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17494349..17570566)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17354597..17428077)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724838 Neighboring gene myotubularin related protein 7 Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene uncharacterized LOC107986919 Neighboring gene platelet derived growth factor receptor like Neighboring gene Sharpr-MPRA regulatory region 10631 Neighboring gene microtubule associated scaffold protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-arginine transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
L-lysine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-ornithine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
arginine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basic amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
L-arginine import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-lysine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
L-ornithine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport TAS
Traceable Author Statement
more info
 
macrophage activation IEA
Inferred from Electronic Annotation
more info
 
nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
nitric oxide production involved in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of macrophage activation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cationic amino acid transporter 2
Names
low affinity cationic amino acid transporter 2
solute carrier family 7 (cationic amino acid transporter, y+ system), member 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030355.1 RefSeqGene

    Range
    5001..78482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008539.4NP_001008539.3  cationic amino acid transporter 2 isoform 2

    See identical proteins and their annotated locations for NP_001008539.3

    Status: REVIEWED

    Source sequence(s)
    AP006248
    Consensus CDS
    CCDS34852.1
    UniProtKB/Swiss-Prot
    P52569
    Related
    ENSP00000430464.1, ENST00000522656.5
    Conserved Domains (1) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
  2. NM_001164771.2NP_001158243.1  cationic amino acid transporter 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP006248
    Consensus CDS
    CCDS55203.1
    UniProtKB/Swiss-Prot
    P52569
    Related
    ENSP00000004531.10, ENST00000004531.14
    Conserved Domains (2) summary
    TIGR00906
    Location:45648
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:596646
    AA_permease_C; C-terminus of AA_permease
  3. NM_001370337.1NP_001357266.1  cationic amino acid transporter 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP006248
    Conserved Domains (1) summary
    TIGR00906
    Location:5607
    2A0303; cationic amino acid transport permease
  4. NM_001370338.1NP_001357267.1  cationic amino acid transporter 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP006248
    Related
    ENSP00000419140.1, ENST00000494857.5
    Conserved Domains (1) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
  5. NM_003046.6NP_003037.4  cationic amino acid transporter 2 isoform 1

    See identical proteins and their annotated locations for NP_003037.4

    Status: REVIEWED

    Source sequence(s)
    AP006248
    Consensus CDS
    CCDS6002.2
    UniProtKB/Swiss-Prot
    P52569
    Related
    ENSP00000381164.3, ENST00000398090.3
    Conserved Domains (2) summary
    TIGR00906
    Location:45647
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:595645
    AA_permease_C; C-terminus of AA_permease

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    17494349..17570566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013746.1XP_016869235.1  cationic amino acid transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    P52569
    Conserved Domains (1) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
  2. XM_005273612.4XP_005273669.1  cationic amino acid transporter 2 isoform X1

    See identical proteins and their annotated locations for XP_005273669.1

    UniProtKB/Swiss-Prot
    P52569
    Conserved Domains (1) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
  3. XM_005273611.4XP_005273668.1  cationic amino acid transporter 2 isoform X1

    See identical proteins and their annotated locations for XP_005273668.1

    UniProtKB/Swiss-Prot
    P52569
    Conserved Domains (1) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
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