SLC7A7
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC7A7 (HGNC:11065) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 7 member 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LPI
Alias symbols
y+LAT-1, Y+LAT1
%HI
26.7(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.01(Read more about gnomAD LOEUF score)
Cytoband
14q11.2
Genomic Coordinates
GRCh37/hg19: chr14:23242431-23289000 NCBI Ensembl UCSC
GRCh38/hg38: chr14:22773222-22819791 NCBI Ensembl UCSC
MANE Select Transcript
NM_003982.4 ENST00000674313.1 (Read more about MANE Select)
Function
Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids from inside the cells in exchange with neutral amino acids plus sodium ions and may participate in nitric oxide synthesis via the transport of L-arginine (PubMed:9878049, PubMed:9829974, PubMed:17329401, PubMed:10080182, PubMed:10655553, PubMed:15756301, PubMed:15776427, PubMed:14603368). Also mediates arginine transport in non-polarized cells, such as monocytes, and is es... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30731
ClinGen Curation ID:
CCID:007892
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)