Slc7a8 MGI Mouse Gene Detail - MGI:1355323 - solute carrier family 7 (cationic amino acid transporter, y+ system), member 8

Symbol

Slc7a8
Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 8
Synonyms

LAT2

Feature Type

protein coding gene
IDs

MGI:1355323
NCBI Gene: 50934
Gene Overview

MyGene.info: SLC7A8
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr14:54722215-54781886 bp, - strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 27.91 cM
Mapping Data

1 experiment

SNPs within 2kb

747 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1355323	protein coding gene	Chr14:54722209-54781946 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021324	protein coding gene	Chr14:48692967-48752315 (-)
A/J	MGP_AJ_G0021283	protein coding gene	Chr14:47734144-47792939 (-)
AKR/J	MGP_AKRJ_G0021259	protein coding gene	Chr14:49458461-49519250 (-)
BALB/cJ	MGP_BALBcJ_G0021287	protein coding gene	Chr14:47709882-47767911 (-)
C3H/HeJ	MGP_C3HHeJ_G0021067	protein coding gene	Chr14:49157615-49218597 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021725	protein coding gene	Chr14:51154388-51215140 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019270	protein coding gene	Chr14:46149041-46208309 (-)
CAST/EiJ	MGP_CASTEiJ_G0020586	protein coding gene	Chr14:45399864-45462144 (-)
CBA/J	MGP_CBAJ_G0021034	protein coding gene	Chr14:52693202-52769174 (-)
DBA/2J	MGP_DBA2J_G0021155	protein coding gene	Chr14:47473538-47531473 (-)
FVB/NJ	MGP_FVBNJ_G0021137	protein coding gene	Chr14:46927981-46991830 (-)
LP/J	MGP_LPJ_G0021229	protein coding gene	Chr14:49691708-49753814 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021161	protein coding gene	Chr14:52087372-52149977 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021752	protein coding gene	Chr14:48648474-48708493 (-)
PWK/PhJ	MGP_PWKPhJ_G0020332	protein coding gene	Chr14:44007587-44068232 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020160	protein coding gene	Chr14:44630192-44687909 (-)
WSB/EiJ	MGP_WSBEiJ_G0020639	protein coding gene	Chr14:48935342-48996082 (-)

Human Ortholog

SLC7A8, solute carrier family 7 member 8

Vertebrate Orthologs

9

Human Ortholog

SLC7A8, solute carrier family 7 member 8
Orthology source: HomoloGene, HGNC
Synonyms

LAT2, LPI-PC1
Links

HGNC:11066

NCBI Gene ID: 23428

neXtProt AC: NX_Q9UHI5

UniProt: Q9UHI5
Chr Location

14q11.2; chr14:23125295-23183660 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 8166
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: SLC7A8
Protein SuperFamily

amino acid transporter
Gene Tree

Slc7a8

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Chemically induced (other)

1
Targeted

7
Genomic Mutations

1 involving Slc7a8
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

6 strains or lines available

Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures.

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All GO Annotations

24
GO References

7

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

241
Tissues

180
cDNA Data

50
Literature Summary

10

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc7a8

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Slc7a8 interacts with 255 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

37
RefSeq

6
UniProt

1
CCDS

CCDS27101.1
UniGene

276831

Ensembl

ENSMUSG00000022180 (Evidence)
NCBI Gene

50934

			Length	Strain/Species	Flank
genomic	50934	NCBI Gene Model \| MGI Sequence Detail	59672	C57BL/6J	± kb
transcript	NM_016972	RefSeq \| MGI Sequence Detail	4064	C57BL/6
polypeptide	Q9QXW9	UniProt \| EBI \| MGI Sequence Detail	531	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000015205 large neutral amino acids transporter small subunit 2

(term hierarchy)
InterPro Domains

IPR002293 Amino acid/polyamine transporter I

IPR004760 L-type amino acid transporter

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All nucleic 55

Genomic 1

cDNA 50

Primer pair 4

Microarray probesets 3

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MGI:2145551

Summaries

All 43

Developmental Gene Expression 10

Gene Ontology 7

Phenotypes 9
Earliest

J:59975 Bassi MT, et al., SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. Genomics. 1999 Dec 1;62(2):297-303
Latest

J:256844 Espino Guarch M, et al., Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. Elife. 2018 Jan 22;7

TSS for Slc7a8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr128647	Chr14:54781934-54781952 (-)	-57 bp
Tssr128646	Chr14:54781906-54781925 (-)	-30 bp
Tssr128629	Chr14:54723571-54723578 (-)	58,311 bp
Tssr128628	Chr14:54723366-54723391 (-)	58,507 bp
Tssr128627	Chr14:54723269-54723281 (-)	58,611 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 11/06/2018 MGI 6.13