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Showing content from http://www.informatics.jax.org/marker/MGI:1270850 below:

Slc6a2 MGI Mouse Gene Detail - MGI:1270850

Summary

• Symbol

  Slc6a2

• Name

  solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2

• Synonyms

  NET, NE transporter, norepinephrine transporter, Slc6a5

• Feature Type

  protein coding gene

• IDs

  MGI:1270850

  NCBI Gene:

  20538

• Alliance

• Transcription Start Sites

  6 TSS

Location &
Maps

more

• Sequence Map

  Chr8:93687100-93728295 bp, + strand

  From NCBI annotation of GRCm39

  
  

• Genome Browsers

• Genetic Map

  Chromosome 8, 44.99 cM

• Mapping Data

Strain

Comparison

more

• SNPs within 2kb

  1530 from dbSNP Build 142

• Strain Annotations

  18

• RFLP

Homology

more

• Human Ortholog

  SLC6A2, solute carrier family 6 member 2

• Vertebrate Orthologs

  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog

  SLC6A2, solute carrier family 6 member 2
  

• Synonyms

  NAT1, NET, NET1, SLC6A5

• Links

• Chr Location

  16q12.2; chr16:55655988-55707645 (+)  GRCh38

• MGI Vertebrate Homology

• HCOP

  vertebrate homology predictions:

  SLC6A2

• Gene Tree

Human Diseases

more

• Diseases

  1 with Slc6a2 mouse models; 3 with human SLC6A2 associations

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles

  1

  with disease annotations

• References

  1

  with disease annotations

Mutations,
Alleles, and
Phenotypes

less

• Phenotype Summary

  30

  phenotypes from 4 alleles in 6 genetic backgrounds

  
  43

  phenotype references

  
  

Phenotype Overview

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

integument

immune system

limbs/digits/tail

liver/biliary system

mortality/aging

muscle

nervous system

pigmentation

renal/urinary system

reproductive system

respiratory system

skeleton

taste/olfaction

neoplasm

vision/eye

• All Mutations and Alleles

• Endonuclease-mediated

• Targeted

• Incidental Mutations

• Find Mice (IMSR)

• Comparison Matrix

• Recombinase Activity

Norepinephrine homeostasis is abnormal in homozygous mutant mice. In addition to displaying altered behavior, mutant mice are hypersensitive to psychostimulants.

Gene Ontology
(GO)
Classifications

less

• All GO Annotations

• GO References

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 differentiation

cell population proliferation

cellular component organization

DNA-templated transcription

establishment of localization

homeostatic process

immune system process

lipid metabolic process

programmed cell death

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

membraneless organelle

nucleus

organelle envelope

organelle lumen

plasma membrane

protein-containing complex

synapse

vacuole

Click cells to view annotations.

Expression

less

Expression Overview

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

• Tissues

• cDNA Data

• Literature Summary

• Other Mouse Links

• Other Vertebrate Links

Sequences &
Gene Models

less

• All Sequences

• RefSeq

• UniProt

• CCDS

• Ensembl

• NCBI Gene

Protein
Information

less

• UniProt

• Protein Ontology

• InterPro Domains

  IPR002435

  Sodium:neurotransmitter symporter, noradrenaline

  IPR037272

  Sodium:neurotransmitter symporter superfamily

• GlyGen

  O55192

  2 sites, 1 N-linked glycan (1 site)

References

more

• Summaries

  Developmental Gene Expression

  14

• Earliest

  J:49073

  Ramachandran B, et al., Differential expression of transporters for norepinephrine and glutamate in wild type, variant, and WNT1-expressing PC12 cells. J Biol Chem. 1993 Nov 15;268(32):23891-7

• Latest

  J:345621

  Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

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