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SLC4A10 solute carrier family 4 member 10 [ Homo sapiens (human) ]

Gene ID: 57282, updated on 3-Apr-2024

Summary

Official Symbol
SLC4A10provided by HGNC
Official Full Name
solute carrier family 4 member 10provided by HGNC
Primary source
HGNC:HGNC:13811
See related
Ensembl:ENSG00000144290 MIM:605556; AllianceGenome:HGNC:13811
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NCBE; NBCn2
Summary
This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
Expression
Biased expression in brain (RPKM 21.0) and adrenal (RPKM 1.0) See more
Orthologs
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Genomic context

Location:
2q24.2
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (161624416..161985270)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (162077534..162441869)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (162480926..162841780)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 17 open reading frame 80 pseudogene Neighboring gene keratin 18 pseudogene 46 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:162603100-162603600 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54812 Neighboring gene uncharacterized LOC105373722 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:162854969-162855469 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54939 Neighboring gene dipeptidyl peptidase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16715 Neighboring gene Sharpr-MPRA regulatory region 3711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12061 Neighboring gene DPP4 promoter region Neighboring gene translocase of inner mitochondrial membrane 8A pseudogene 1 Neighboring gene DPP4 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
MedGen: CN377037 OMIM: 620746 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-04-11)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2012-04-11)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sodium,bicarbonate:chloride antiporter activity IEA
Inferred from Electronic Annotation
more info
 
enables sodium:bicarbonate symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables sodium:bicarbonate symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables sodium:bicarbonate symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables solute:inorganic anion antiporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in bicarbonate transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in bicarbonate transport TAS
Traceable Author Statement
more info
 
involved_in brain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in chloride transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in locomotory exploration behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in pyramidal neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of short-term neuronal synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to light stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in visual perception ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in CA3 pyramidal cell dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in apical dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in basal dendrite IEA
Inferred from Electronic Annotation
more info
 
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
located_in somatodendritic compartment ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sodium-driven chloride bicarbonate exchanger
Names
solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
solute carrier family 4, sodium bicarbonate transporter, member 10

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021401.1 RefSeqGene

    Range
    5082..365936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178015.2NP_001171486.1  sodium-driven chloride bicarbonate exchanger isoform 1

    See identical proteins and their annotated locations for NP_001171486.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL832525, BC051190, BC143714, DC337667
    Consensus CDS
    CCDS54411.1
    UniProtKB/Swiss-Prot
    B7Z1R0, B7Z2J0, B7ZLC5, B9EG69, F8W675, Q4ZFX6, Q6U841, Q8TCP2, Q9HCQ6
    UniProtKB/TrEMBL
    E7EW28
    Related
    ENSP00000393066.1, ENST00000446997.6
    Conserved Domains (3) summary
    TIGR00834
    Location:1181061
    ae; anion exchange protein
    pfam00955
    Location:476989
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146435
    Band_3_cyto; Band 3 cytoplasmic domain
  2. NM_001178016.2NP_001171487.1  sodium-driven chloride bicarbonate exchanger isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 5' coding region, compared to variant 1, which result in a shorter protein (3) with a novel N-terminus, compared to isoform 1.
    Source sequence(s)
    AK293793, AL832525, BC051190, BC143714, DC337667
    Consensus CDS
    CCDS54412.1
    UniProtKB/TrEMBL
    E7EW28
    Related
    ENSP00000364664.5, ENST00000375514.9
    Conserved Domains (3) summary
    TIGR00834
    Location:1291042
    ae; anion exchange protein
    pfam00955
    Location:457970
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:157416
    Band_3_cyto; Band 3 cytoplasmic domain
  3. NM_001354440.2NP_001341369.1  sodium-driven chloride bicarbonate exchanger isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Related
    ENSP00000404486.1, ENST00000421911.1
    Conserved Domains (1) summary
    cl26877
    Location:1181061
    Band_3_cyto; Band 3 cytoplasmic domain
  4. NM_001354441.2NP_001341370.1  sodium-driven chloride bicarbonate exchanger isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1291072
    Band_3_cyto; Band 3 cytoplasmic domain
  5. NM_001354442.2NP_001341371.1  sodium-driven chloride bicarbonate exchanger isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1291072
    Band_3_cyto; Band 3 cytoplasmic domain
  6. NM_001354443.2NP_001341372.1  sodium-driven chloride bicarbonate exchanger isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1301043
    Band_3_cyto; Band 3 cytoplasmic domain
  7. NM_001354444.2NP_001341373.1  sodium-driven chloride bicarbonate exchanger isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1181060
    Band_3_cyto; Band 3 cytoplasmic domain
  8. NM_001354445.2NP_001341374.1  sodium-driven chloride bicarbonate exchanger isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1291042
    Band_3_cyto; Band 3 cytoplasmic domain
  9. NM_001354446.2NP_001341375.1  sodium-driven chloride bicarbonate exchanger isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    Consensus CDS
    CCDS86888.1
    UniProtKB/TrEMBL
    C9J240, E7EW28
    Related
    ENSP00000272716.5, ENST00000272716.9
    Conserved Domains (1) summary
    cl26877
    Location:1181031
    Band_3_cyto; Band 3 cytoplasmic domain
  10. NM_001354447.2NP_001341376.1  sodium-driven chloride bicarbonate exchanger isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1301043
    Band_3_cyto; Band 3 cytoplasmic domain
  11. NM_001354448.2NP_001341377.1  sodium-driven chloride bicarbonate exchanger isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1291041
    Band_3_cyto; Band 3 cytoplasmic domain
  12. NM_001354449.2NP_001341378.1  sodium-driven chloride bicarbonate exchanger isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1181030
    Band_3_cyto; Band 3 cytoplasmic domain
  13. NM_001354450.2NP_001341379.1  sodium-driven chloride bicarbonate exchanger isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1181031
    Band_3_cyto; Band 3 cytoplasmic domain
  14. NM_001354451.2NP_001341380.1  sodium-driven chloride bicarbonate exchanger isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1181030
    Band_3_cyto; Band 3 cytoplasmic domain
  15. NM_001354453.2NP_001341382.1  sodium-driven chloride bicarbonate exchanger isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:69982
    Band_3_cyto; Band 3 cytoplasmic domain
  16. NM_001354455.2NP_001341384.1  sodium-driven chloride bicarbonate exchanger isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    Conserved Domains (1) summary
    cl26877
    Location:1838
    Band_3_cyto; Band 3 cytoplasmic domain
  17. NM_001354460.2NP_001341389.1  sodium-driven chloride bicarbonate exchanger isoform 18

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variant 19, encodes isoform 18.
    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1301073
    Band_3_cyto; Band 3 cytoplasmic domain
  18. NM_001354461.2NP_001341390.1  sodium-driven chloride bicarbonate exchanger isoform 18

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variant 18, encodes isoform 18.
    Source sequence(s)
    AC008063, AC062022, AC092841, AC096654
    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1301073
    Band_3_cyto; Band 3 cytoplasmic domain
  19. NM_022058.4NP_071341.2  sodium-driven chloride bicarbonate exchanger isoform 2

    See identical proteins and their annotated locations for NP_071341.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a shorter protein (2), compared to isoform 1.
    Source sequence(s)
    AC062022, AC092841, AL832525, BC038298, CA841736
    Consensus CDS
    CCDS46438.1
    UniProtKB/TrEMBL
    E7EW28
    Related
    ENSP00000395797.2, ENST00000415876.6
    Conserved Domains (3) summary
    TIGR00834
    Location:1181031
    ae; anion exchange protein
    pfam00955
    Location:446959
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146405
    Band_3_cyto; Band 3 cytoplasmic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    161624416..161985270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246694.4XP_005246751.1  sodium-driven chloride bicarbonate exchanger isoform X4

    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (3) summary
    TIGR00834
    Location:1291072
    ae; anion exchange protein
    pfam00955
    Location:4871000
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:157446
    Band_3_cyto; Band 3 cytoplasmic domain
  2. XM_011511509.4XP_011509811.1  sodium-driven chloride bicarbonate exchanger isoform X1

    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (3) summary
    TIGR00834
    Location:1181060
    ae; anion exchange protein
    pfam00955
    Location:475988
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146434
    Band_3_cyto; Band 3 cytoplasmic domain
  3. XM_011511512.4XP_011509814.1  sodium-driven chloride bicarbonate exchanger isoform X2

    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (3) summary
    TIGR00834
    Location:1181030
    ae; anion exchange protein
    pfam00955
    Location:445958
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146404
    Band_3_cyto; Band 3 cytoplasmic domain
  4. XM_011511513.3XP_011509815.1  sodium-driven chloride bicarbonate exchanger isoform X3

    See identical proteins and their annotated locations for XP_011509815.1

    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1301073
    Band_3_cyto; Band 3 cytoplasmic domain
  5. XM_017004546.2XP_016860035.1  sodium-driven chloride bicarbonate exchanger isoform X5

    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1301043
    Band_3_cyto; Band 3 cytoplasmic domain
  6. XM_024453016.2XP_024308784.1  sodium-driven chloride bicarbonate exchanger isoform X3

    UniProtKB/TrEMBL
    E7EW28
    Conserved Domains (1) summary
    cl26877
    Location:1301073
    Band_3_cyto; Band 3 cytoplasmic domain
  7. XM_017004551.2XP_016860040.1  sodium-driven chloride bicarbonate exchanger isoform X6

    UniProtKB/TrEMBL
    E7EW28
  8. XM_047445156.1XP_047301112.1  sodium-driven chloride bicarbonate exchanger isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    162077534..162441869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343125.1XP_054199100.1  sodium-driven chloride bicarbonate exchanger isoform X9

  2. XM_054343118.1XP_054199093.1  sodium-driven chloride bicarbonate exchanger isoform X8

  3. XM_054343121.1XP_054199096.1  sodium-driven chloride bicarbonate exchanger isoform X4

  4. XM_054343119.1XP_054199094.1  sodium-driven chloride bicarbonate exchanger isoform X3

  5. XM_054343122.1XP_054199097.1  sodium-driven chloride bicarbonate exchanger isoform X5

  6. XM_054343120.1XP_054199095.1  sodium-driven chloride bicarbonate exchanger isoform X3

  7. XM_054343123.1XP_054199098.1  sodium-driven chloride bicarbonate exchanger isoform X6

  8. XM_054343124.1XP_054199099.1  sodium-driven chloride bicarbonate exchanger isoform X7