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

Gene ID: 6542, updated on 6-Aug-2017
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; Vega:OTTHUMG00000130819
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]
Orthologs
Location:
8p22
Exon count:
17
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (17494349..17570568)
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 microtubule associated scaffold protein 1 Neighboring gene microRNA 548v

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
L-arginine import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
L-lysine import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
L-ornithine import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
amino acid transport TAS
Traceable Author Statement
more info
 
arginine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cellular amino acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
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
 
transport TAS
Traceable Author Statement
more info
PubMed 
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 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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

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_001008539.3NP_001008539.3  cationic amino acid transporter 2 isoform 2

    See identical proteins and their annotated locations for NP_001008539.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream translational start codon, and includes an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) has a different internal segment and is shorter than isoform 1.
    Source sequence(s)
    AI275549, AI458117, AK314287, AL832016, AP006248, AU077312
    Consensus CDS
    CCDS34852.1
    UniProtKB/Swiss-Prot
    P52569
    Related
    ENSP00000430464.1, OTTHUMP00000224768, ENST00000522656.5, OTTHUMT00000375242
    Conserved Domains (2) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:556606
    AA_permease_C; C-terminus of AA_permease
  2. NM_001164771.1NP_001158243.1  cationic amino acid transporter 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1. This variant may include additional exon structure in the 5' UTR, but the nature of any additional structure is unclear due to the lack of 5'-complete transcript data for this variant and the presence of alternative splicing choices further upstream.
    Source sequence(s)
    AI275549, AL832016, AP006248, BC069648, D78212
    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_003046.5NP_003037.4  cationic amino acid transporter 2 isoform 1

    See identical proteins and their annotated locations for NP_003037.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. This variant may include additional exon structure in the 5' UTR, but the nature of any additional structure is unclear due to the lack of 5'-complete transcript data for this variant and the presence of alternative splicing choices further upstream.
    Source sequence(s)
    AI275549, AL832016, AP006248, BC113661, D78212
    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 Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

    Range
    17494349..17570568
    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 (2) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:556606
    AA_permease_C; C-terminus of AA_permease
  2. XM_017013747.1XP_016869236.1  cationic amino acid transporter 2 isoform X2

    UniProtKB/Swiss-Prot
    P52569
    Conserved Domains (2) summary
    TIGR00906
    Location:5607
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:555605
    AA_permease_C; C-terminus of AA_permease
  3. XM_005273610.4XP_005273667.1  cationic amino acid transporter 2 isoform X1

    See identical proteins and their annotated locations for XP_005273667.1

    UniProtKB/Swiss-Prot
    P52569
    Related
    ENSP00000419140.1, OTTHUMP00000216432, ENST00000494857.5, OTTHUMT00000253367
    Conserved Domains (2) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:556606
    AA_permease_C; C-terminus of AA_permease
  4. 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 (2) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:556606
    AA_permease_C; C-terminus of AA_permease
  5. 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 (2) summary
    TIGR00906
    Location:5608
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:556606
    AA_permease_C; C-terminus of AA_permease

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    17556088..17629545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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