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Slc4a7 Gene Detail
Summary
  • Symbol
    Slc4a7
  • Name
    solute carrier family 4, sodium bicarbonate cotransporter, member 7
  • Synonyms
    E430014N10Rik, NBC3, NBCn1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443878
    NCBI Gene: 218756
  • Gene Overview
    MyGene.info: SLC4A7
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:14703011-14799944 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 7.08 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    658 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443878
protein coding gene Chr14:14702279-14799944 (.)
129S1/SvImJ MGP_129S1SvImJ_G0021011
protein coding gene Chr14:7246052-7354076 (+)
A/J MGP_AJ_G0020959
protein coding gene Chr14:7057142-7155361 (+)
AKR/J MGP_AKRJ_G0020936
protein coding gene Chr14:7203554-7312673 (+)
BALB/cJ MGP_BALBcJ_G0020962
protein coding gene Chr14:7092800-7197687 (+)
C3H/HeJ MGP_C3HHeJ_G0020746
protein coding gene Chr14:7296317-7405642 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021395
protein coding gene Chr14:7448532-7557122 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018964
protein coding gene Chr14:7737768-7829046 (+)
CAST/EiJ MGP_CASTEiJ_G0020269
protein coding gene Chr14:7229795-7332767 (+)
CBA/J MGP_CBAJ_G0020712
protein coding gene Chr14:7732976-7848700 (+)
DBA/2J MGP_DBA2J_G0020836
protein coding gene Chr14:6979414-7080687 (+)
FVB/NJ MGP_FVBNJ_G0020818
protein coding gene Chr14:6896916-6994398 (+)
LP/J MGP_LPJ_G0020911
protein coding gene Chr14:7274642-7380998 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020844
protein coding gene Chr14:7785258-7893887 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021428
protein coding gene Chr14:7123938-7225223 (+)
PWK/PhJ MGP_PWKPhJ_G0020020
protein coding gene Chr14:6994559-7094515 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019840
protein coding gene Chr14:7280068-7380357 (+)
WSB/EiJ MGP_WSBEiJ_G0020326
protein coding gene Chr14:7171649-7261617 (+)



Homology
more
  • Human Ortholog
    SLC4A7, solute carrier family 4 member 7
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC4A7, solute carrier family 4 member 7
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NBC2, NBC3, NBCN1, SBC2, SLC4A6
  • Links
    NCBI Gene ID: 9497
    neXtProt AC: NX_Q9Y6M7
    UniProt: Q9Y6M7

  • Chr Location
    3p24.1; chr3:27372721-27484420 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Slc4a7 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
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
    37 phenotypes from 3 alleles in 3 genetic backgrounds
    18 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
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.
Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension.
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
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.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 218756 NCBI Gene Model | MGI Sequence Detail 96934 C57BL/6J ±  kb
transcript NM_001360504 RefSeq | MGI Sequence Detail 7777 C57BL/6  
polypeptide Q8BTY2 UniProt | EBI | MGI Sequence Detail 1034 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    38 Sequences
  • InterPro Domains
    IPR013769 Band 3 cytoplasmic domain
    IPR011531 Bicarbonate transporter, C-terminal
    IPR003020 Bicarbonate transporter, eukaryotic
    IPR016152 Phosphotransferase/anion transporter
    IPR003024 Sodium bicarbonate cotransporter
Molecular
Reagents
less
  • All nucleic 98
    cDNA 97
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:5049862
References
more
  • Summaries
    All 49
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 10
    Phenotypes 18
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:253473 Goodwin LO, et al., Large-scale discovery of mouse transgenic integration sites reveals frequent structural variation and insertional mutagenesis. bioRxiv. 2017 Dec 18;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory