About   Help   FAQ
Slc4a4 Gene Detail
Summary
  • Symbol
    Slc4a4
  • Name
    solute carrier family 4 (anion exchanger), member 4
  • Synonyms
    NBC, NBC1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927555
    NCBI Gene: 54403
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:89034345-89387512 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 44.10 cM, cytoband E2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8689 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927555
 protein coding gene Chr5:88941717-89387515 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029714
 protein coding gene Chr5:89900245-90258012 (+)
A/J MGP_AJ_G0029680
 protein coding gene Chr5:86354136-86706542 (+)
AKR/J MGP_AKRJ_G0029626
 protein coding gene Chr5:89200767-89563272 (+)
BALB/cJ MGP_BALBcJ_G0029690
 protein coding gene Chr5:87259178-87614099 (+)
C3H/HeJ MGP_C3HHeJ_G0029413
 protein coding gene Chr5:89535984-89891484 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030144
 protein coding gene Chr5:93560072-93935415 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027380
 protein coding gene Chr5:82162274-82490049 (+)
CAST/EiJ MGP_CASTEiJ_G0028823
 protein coding gene Chr5:88966928-89320002 (+)
CBA/J MGP_CBAJ_G0029382
 protein coding gene Chr5:96675283-97066195 (+)
DBA/2J MGP_DBA2J_G0029527
 protein coding gene Chr5:86418985-86763783 (+)
FVB/NJ MGP_FVBNJ_G0029486
 protein coding gene Chr5:85336462-85674386 (+)
LP/J MGP_LPJ_G0029615
 protein coding gene Chr5:90295786-90652755 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029515
 protein coding gene Chr5:101710542-102088567 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030178
 protein coding gene Chr5:88711192-89068546 (+)
PWK/PhJ MGP_PWKPhJ_G0028542
 protein coding gene Chr5:85501076-85842621 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028377
 protein coding gene Chr5:88142164-88483221 (+)
WSB/EiJ MGP_WSBEiJ_G0028902
 protein coding gene Chr5:89101349-89462003 (+)



Homology
more
  • Human Ortholog
    SLC4A4, solute carrier family 4 member 4
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC4A4, solute carrier family 4 member 4
  • Synonyms
    hhNMC, HNBC1, KNBC, kNBC1, NBC1, NBC2, NBCe1, NBCe1-A, pNBC, PRTAO, SLC4A5
  • Links
    NCBI Gene ID: 8671
    neXtProt AC: NX_Q9Y6R1
    UniProt: Q9Y6R1

  • Chr Location
    4q13.3; chr4:71062660-71572087 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc4a4 mouse models; 1 with human SLC4A4 associations

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
less
  • Phenotype Summary
    63 phenotypes from 2 alleles in 2 genetic backgrounds
    2 images
    30 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.
Nullizygous mice show postnatal growth retardation and lethality, bowel obstructions, metabolic acidosis and abnormal urine homeostasis. Additional phenotypes include altered blood, ion and ammonia homeostasis, renal tubular acidosis/atrophy, corneal opacities, and bone, muscle and spleen defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    46
  • GO References
    15
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

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
    773
  • Tissues
    44
  • cDNA Data
    16
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000060961 Ensembl Gene Model | MGI Sequence Detail 353168 C57BL/6J ±  kb
    transcript ENSMUST00000239214 Ensembl | MGI Sequence Detail 4212 Not Applicable  
    polypeptide ENSMUSP00000159229 Ensembl | MGI Sequence Detail 1111 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000015160 electrogenic sodium bicarbonate cotransporter 1
      (term hierarchy)
    • InterPro Domains
      IPR013769 Band 3 cytoplasmic domain
      IPR003020 Bicarbonate transporter, eukaryotic
      IPR011531 Bicarbonate transporter-like, transmembrane domain
      IPR016152 Phosphotransferase/anion transporter
      IPR003024 Sodium bicarbonate cotransporter
    • GlyGen
      O88343 5 sites, 4 N-linked glycans (4 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 17
      Primer pair 4
      Other 3

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2140969
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 15
      Phenotypes 30
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:350670 Ye Q, et al., Astrocytic Slc4a4 regulates blood-brain barrier integrity in healthy and stroke brains via a CCL2-CCR2 pathway and NO dysregulation. Cell Rep. 2024 May 28;43(5):114193
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory