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SLC4A11 solute carrier family 4 member 11 [ Homo sapiens (human) ]

Gene ID: 83959, updated on 25-Nov-2025
Official Symbol
SLC4A11provided by HGNC
Official Full Name
solute carrier family 4 member 11provided by HGNC
Primary source
HGNC:HGNC:16438
See related
Ensembl:ENSG00000088836 MIM:610206; AllianceGenome:HGNC:16438
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
BTR1; CHED; CDPD1; CHED2; NABC1; dJ794I6.2
Summary
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
Expression
Biased expression in thyroid (RPKM 6.2), kidney (RPKM 5.1) and 12 other tissues See more
Orthologs
mouse all
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See SLC4A11 in Genome Data Viewer
Location:
20p13
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3227417..3239559, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3258367..3270505, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3208063..3220205, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12614 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:3163335-3163502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3183418-3184016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3189739-3190387 Neighboring gene DDRGK domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3210499-3211281 Neighboring gene inosine triphosphatase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3228779-3229524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3229525-3230269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3230929-3231429 Neighboring gene dynein axonemal assembly factor 9 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3276431-3276932 Neighboring gene RNA, U6 small nuclear 1019, pseudogene

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Riazuddin SA, et al. Hum Mutat, 2010 Nov. PMID 20848555, Free PMC Article
  2. SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy. Patel SP, et al. Biomed Res Int, 2015. PMID 26451371, Free PMC Article
  3. Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). Kaul H, et al. Clin Exp Optom, 2016 Jan. PMID 26286922
  4. Human SLC4A11 Is a Novel NH3/H+ Co-transporter. Zhang W, et al. J Biol Chem, 2015 Jul 3. PMID 26018076, Free PMC Article
  5. Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults. Roy S, et al. Cornea, 2015 Jun. PMID 25811729

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.
    Title: Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.
  2. Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP2.
    Title: Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP(2).
  3. Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy.
    Title: Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy.
  4. Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family.
    Title: Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family.
  5. Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.
    Title: Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.
  6. Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport.
    Title: Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport.
  7. Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.
    Title: Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.
  8. Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.
    Title: Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.
  9. SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
    Title: SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
  10. Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.
    Title: Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.
Submit: New GeneRIF Correction See all GeneRIFs (65)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital hereditary endothelial dystrophy of cornea
MedGen: C1857569 OMIM: 217700 GeneReviews: Not available
Compare labs
Corneal dystrophy, Fuchs endothelial, 4
MedGen: C2750450 OMIM: 613268 GeneReviews: Not available
Compare labs
Corneal dystrophy-perceptive deafness syndrome
MedGen: C1857572 OMIM: 217400 GeneReviews: Not available
Compare labs

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126418, MGC126419

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables active borate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables antiporter activity IEA
Inferred from Electronic Annotation
more info
  
enables bicarbonate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables bicarbonate transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein dimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables proton channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables proton transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sodium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables solute:inorganic anion antiporter activity IEA
Inferred from Electronic Annotation
more info
  
enables symporter activity IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables water transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in bicarbonate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in borate transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in borate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular hypotonic response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in fluid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in fluid transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular monoatomic cation homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic anion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in proton transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of mesenchymal stem cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of mesenchymal stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in water transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in basolateral plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in membrane 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 IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Preferred Names
solute carrier family 4 member 11
Names
bicarbonate transporter related protein 1
sodium-coupled borate cotransporter 1
solute carrier family 4, sodium bicarbonate transporter-like, member 11
solute carrier family 4, sodium borate transporter, member 11

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_017072.1 RefSeqGene

    Range
    5052..16820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174089.2 → NP_001167560.1  solute carrier family 4 member 11 isoform 3

    See identical proteins and their annotated locations for NP_001167560.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region compared to variant 1. The resulting protein (isoform 3) has a distinct N-terminus and is shorter compared to isoform 1.
    Source sequence(s)
    AF336127, AK296760, CA312226, DC341640
    Consensus CDS
    CCDS54446.1
    UniProtKB/Swiss-Prot
    B4DKC8, B4DKX9, G3V1M3, Q2TB62, Q2TB63, Q8NBS3, Q9BXF4, Q9NTW9
    UniProtKB/TrEMBL
    A0A2R8Y7S1
    Related
    ENSP00000493503.1, ENST00000642402.1
    Conserved Domains (1) summary
    pfam00955
    Location:325 → 818
    HCO3_cotransp; HCO3- transporter family

  2. NM_001174090.2 → NP_001167561.1  solute carrier family 4 member 11 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF336127, AK296508, CA312226
    Consensus CDS
    CCDS54445.1
    UniProtKB/TrEMBL
    A0A2R8Y7S1
    Related
    ENSP00000369399.3, ENST00000380059.7
    Conserved Domains (2) summary
    pfam00955
    Location:369 → 860
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:246 → 325
    PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...

  3. NM_001363745.2 → NP_001350674.1  solute carrier family 4 member 11 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL109976
    Consensus CDS
    CCDS86932.1
    UniProtKB/TrEMBL
    A0A2R8Y7S1, A0A2R8YFD9
    Related
    ENSP00000495050.1, ENST00000647296.1
    Conserved Domains (2) summary
    pfam00955
    Location:326 → 779
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:203 → 282
    PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...

  4. NM_001400277.1 → NP_001387206.1  solute carrier family 4 member 11 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL109976
    UniProtKB/TrEMBL
    A0A2R8Y7S1

  5. NM_001400278.1 → NP_001387207.1  solute carrier family 4 member 11 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL109976
    UniProtKB/TrEMBL
    A0A2R8Y7S1
    Related
    ENSP00000493824.1, ENST00000644692.1

  6. NM_001400279.1 → NP_001387208.1  solute carrier family 4 member 11 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL109976
    UniProtKB/TrEMBL
    A0A2R8Y7S1

  7. NM_001400280.1 → NP_001387209.1  solute carrier family 4 member 11 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL109976
    UniProtKB/TrEMBL
    A0A2R8Y7S1

  8. NM_032034.4 → NP_114423.1  solute carrier family 4 member 11 isoform 2

    See identical proteins and their annotated locations for NP_114423.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. The resulting protein (isoform 2) has a distinct N-terminus and is shorter compared to isoform 1.
    Source sequence(s)
    AF336127, CA312226
    Consensus CDS
    CCDS13052.1
    UniProtKB/TrEMBL
    A0A2R8Y7S1
    Related
    ENSP00000369396.3, ENST00000380056.7
    Conserved Domains (2) summary
    pfam00955
    Location:342 → 833
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:219 → 298
    PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...

RNA

  1. NR_135000.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes an alternate 5' terminal exon and uses an alternate internal splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF336127, AK091157, AK296508, DA630556, HY211104
    Related
    ENST00000474451.5

  2. NR_174470.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL109976

  3. NR_174471.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL109976

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    3227417..3239559 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440543.1 → XP_047296499.1  solute carrier family 4 member 11 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y7S1

  2. XM_047440542.1 → XP_047296498.1  solute carrier family 4 member 11 isoform X5

    Related
    ENSP00000546718.1, ENST00000876659.1

  3. XM_017028096.2 → XP_016883585.1  solute carrier family 4 member 11 isoform X4

    UniProtKB/TrEMBL
    A0A2R8Y7S1
    Conserved Domains (2) summary
    pfam00955
    Location:307 → 798
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:184 → 263
    PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...

  4. XM_047440540.1 → XP_047296496.1  solute carrier family 4 member 11 isoform X2

    UniProtKB/TrEMBL
    A0A2R8Y7S1

  5. XM_017028094.2 → XP_016883583.1  solute carrier family 4 member 11 isoform X4

    UniProtKB/TrEMBL
    A0A2R8Y7S1
    Conserved Domains (2) summary
    pfam00955
    Location:307 → 798
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:184 → 263
    PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...

  6. XM_017028093.2 → XP_016883582.2  solute carrier family 4 member 11 isoform X1

  7. XM_047440541.1 → XP_047296497.1  solute carrier family 4 member 11 isoform X3

  8. XM_047440544.1 → XP_047296500.1  solute carrier family 4 member 11 isoform X7

    UniProtKB/TrEMBL
    V9GYK6

  9. XM_017028097.2 → XP_016883586.2  solute carrier family 4 member 11 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    3258367..3270505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324115.1 → XP_054180090.1  solute carrier family 4 member 11 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y7S1

  2. XM_054324114.1 → XP_054180089.1  solute carrier family 4 member 11 isoform X5

  3. XM_054324112.1 → XP_054180087.1  solute carrier family 4 member 11 isoform X4

    UniProtKB/TrEMBL
    A0A2R8Y7S1

  4. XM_054324110.1 → XP_054180085.1  solute carrier family 4 member 11 isoform X2

    UniProtKB/TrEMBL
    A0A2R8Y7S1

  5. XM_054324113.1 → XP_054180088.1  solute carrier family 4 member 11 isoform X4

    UniProtKB/TrEMBL
    A0A2R8Y7S1

  6. XM_054324109.1 → XP_054180084.1  solute carrier family 4 member 11 isoform X1

  7. XM_054324111.1 → XP_054180086.1  solute carrier family 4 member 11 isoform X3

  8. XM_054324116.1 → XP_054180091.1  solute carrier family 4 member 11 isoform X7

    UniProtKB/TrEMBL
    V9GYK6

  9. XM_054324117.1 → XP_054180092.1  solute carrier family 4 member 11 isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NBS3.3 GenPept UniProtKB/Swiss-Prot:Q8NBS3

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