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Slc4a11 Gene Detail
Summary
  • Symbol
    Slc4a11
  • Name
    solute carrier family 4, sodium bicarbonate transporter-like, member 11
  • Feature Type
    protein coding gene
  • IDs
    MGI:2138987
    NCBI Gene: 269356
  • Gene Overview
    MyGene.info: SLC4A11
Location & Maps
more
  • Sequence Map
    Chr2:130684113-130697519 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13407 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 63.24 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SLC4A11, solute carrier family 4 member 11
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC4A11, solute carrier family 4 member 11
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BTR1, CDPD1, CHED, CHED2, dJ794I6.2, NABC1
  • Links
    NCBI Gene ID: 83959
    neXtProt AC: NX_Q8NBS3

  • Chr Location
    20p12; chr20:3227417-3241482 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Slc4a11 mouse models; 3 with human SLC4A11 associations

Human Disease Mouse Models
       Corneal Endothelial Dystrophy; CHED   OMIM: 217700 View 1 model
       Corneal Dystrophy and Perceptive Deafness; CDPD   OMIM: 217400
Corneal Dystrophy, Fuchs Endothelial, 4; FECD4   OMIM: 613268
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
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  • Phenotype Summary
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    4 images
    12 phenotype references
Phenotype Overview

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

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Slc4a11
  • Incidental Mutations
Mice homozygous for a gene trapped allele show a collapsed vestibular labyrinth, reduced brainstem auditory potentials, and altered corneal epithelium. Mice homozygous for a reporter allele show corneal endothelial dystrophy, polyuria, natriuresis, urinehypoosmolarity and impaired hearing.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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.
Expression
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Expression Overview

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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015523 VEGA Gene Model | MGI Sequence Detail 13407 C57BL/6J ±  kb
transcript OTTMUST00000036856 VEGA | MGI Sequence Detail 3196 Not Applicable  
polypeptide OTTMUSP00000016539 VEGA | MGI Sequence Detail 862 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    82 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015156 sodium bicarbonate transporter-like protein 11
  • InterPro Domains
    IPR011531 Bicarbonate transporter, C-terminal
    IPR003020 Bicarbonate transporter, eukaryotic
    IPR016152 Phosphotransferase/anion transporter
    IPR002178 PTS EIIA type-2 domain
Molecular
Reagents
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  • All nucleic 18
    cDNA 17
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 34
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 5
    Phenotypes 12
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:214272 Han SB, et al., Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy. Invest Ophthalmol Vis Sci. 2013 Sep;54(9):6179-89

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory