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Aliases for SLC26A4 Gene

Aliases for SLC26A4 Gene

  • Solute Carrier Family 26 Member 4 2 3 4 5
  • Solute Carrier Family 26 (Anion Exchanger), Member 4 2 3
  • Sodium-Independent Chloride/Iodide Transporter 3 4
  • Pendrin 2 3
  • PDS 3 4
  • Solute Carrier Family 26, Member 4 2
  • Truncated Solute Carrier Family 26 3
  • TDH2B 3
  • DFNB4 3
  • EVA 3

External Ids for SLC26A4 Gene

Previous HGNC Symbols for SLC26A4 Gene

  • DFNB4

Previous GeneCards Identifiers for SLC26A4 Gene

  • GC07P105784
  • GC07P106847
  • GC07P106861
  • GC07P106895
  • GC07P107088
  • GC07P107301
  • GC07P101661

Summaries for SLC26A4 Gene

Entrez Gene Summary for SLC26A4 Gene

  • Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC26A4 Gene

SLC26A4 (Solute Carrier Family 26 Member 4) is a Protein Coding gene. Diseases associated with SLC26A4 include Pendred Syndrome and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin secretion. GO annotations related to this gene include secondary active sulfate transmembrane transporter activity and chloride transmembrane transporter activity. An important paralog of this gene is SLC26A3.

UniProtKB/Swiss-Prot for SLC26A4 Gene

  • Sodium-independent transporter of chloride and iodide.

Gene Wiki entry for SLC26A4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A4 Gene

Genomics for SLC26A4 Gene

Regulatory Elements for SLC26A4 Gene

Enhancers for SLC26A4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G107559 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -98.0 -98044 6.8 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 DMAP1 COG5 ENSG00000238832 SLC26A4 SLC26A4-AS1 HBP1 DUS4L GC07M107524
GH07G107742 1.4 ENCODE dbSUPER 10.7 +83.9 83865 4.8 CREB3L1 DMAP1 YY1 ZNF143 SP3 TBX21 MEF2D ZNF585B GLIS1 NBN HBP1 LOC101927974 RPL7P32 CBLL1 SLC26A4-AS1 SLC26A4 COG5 DUS4L ENSG00000272072
GH07G107638 1 Ensembl ENCODE 11.6 -21.9 -21872 0.9 PKNOX1 MXI1 TBL1XR1 ASH2L BMI1 ZBTB40 RELA RCOR1 RELB IKZF2 COG5 SLC26A4 SLC26A4-AS1 ENSG00000238832 GC07M107643 GC07P107630
GH07G107594 1.1 Ensembl ENCODE 10.5 -64.7 -64667 3.7 PKNOX1 FEZF1 RFX5 GATA2 ZNF366 ZSCAN5C FOS CEBPB OVOL3 ZEB2 COG5 SLC26A4 SLC26A4-AS1 DUS4L PIR46022 ENSG00000238832
GH07G107856 0.9 ENCODE 10.2 +196.9 196851 2.1 ELF3 FOXA2 MLX ARID4B RAD21 ZNF48 ZSCAN9 RARA GATA2 MIXL1 CBLL1 PIGCP2 SLC26A3 LOC101927974 SLC26A4 SLC26A4-AS1 DLD LOC105375444
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC26A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC26A4 Gene

Chromosome:
7
Start:
107,660,635 bp from pter
End:
107,717,809 bp from pter
Size:
57,175 bases
Orientation:
Plus strand

Genomic View for SLC26A4 Gene

Genes around SLC26A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC26A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC26A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A4 Gene

Proteins for SLC26A4 Gene

  • Protein details for SLC26A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43511-S26A4_HUMAN
    Recommended name:
    Pendrin
    Protein Accession:
    O43511
    Secondary Accessions:
    • B7Z266
    • O43170

    Protein attributes for SLC26A4 Gene

    Size:
    780 amino acids
    Molecular mass:
    85723 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC26A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC26A4 Gene

Post-translational modifications for SLC26A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC26A4 Gene

No data available for DME Specific Peptides for SLC26A4 Gene

Domains & Families for SLC26A4 Gene

Gene Families for SLC26A4 Gene

Protein Domains for SLC26A4 Gene

Graphical View of Domain Structure for InterPro Entry

O43511

UniProtKB/Swiss-Prot:

S26A4_HUMAN :
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A4: view

Function for SLC26A4 Gene

Molecular function for SLC26A4 Gene

UniProtKB/Swiss-Prot Function:
Sodium-independent transporter of chloride and iodide.

Gene Ontology (GO) - Molecular Function for SLC26A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IBA --
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IBA --
GO:0015108 chloride transmembrane transporter activity TAS 10192399
GO:0015111 iodide transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC26A4: view
genes like me logo Genes that share phenotypes with SLC26A4: view

Human Phenotype Ontology for SLC26A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC26A4 Gene

MGI Knock Outs for SLC26A4:

Animal Model Products

CRISPR Products

miRNA for SLC26A4 Gene

miRTarBase miRNAs that target SLC26A4

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC26A4 Gene

Localization for SLC26A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A4 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC26A4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC26A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA 10192399
GO:0016324 apical plasma membrane ISS,IEA --
genes like me logo Genes that share ontologies with SLC26A4: view

Pathways & Interactions for SLC26A4 Gene

genes like me logo Genes that share pathways with SLC26A4: view

Interacting Proteins for SLC26A4 Gene

Gene Ontology (GO) - Biological Process for SLC26A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006821 chloride transport IEA --
GO:0006885 regulation of pH ISS,IEA --
GO:0007605 sensory perception of sound TAS 9398842
genes like me logo Genes that share ontologies with SLC26A4: view

No data available for SIGNOR curated interactions for SLC26A4 Gene

Drugs & Compounds for SLC26A4 Gene

(6) Drugs for SLC26A4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(14) Additional Compounds for SLC26A4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with SLC26A4: view

Transcripts for SLC26A4 Gene

Unigene Clusters for SLC26A4 Gene

Solute carrier family 26, member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A4 Gene

No ASD Table

Relevant External Links for SLC26A4 Gene

GeneLoc Exon Structure for
SLC26A4
ECgene alternative splicing isoforms for
SLC26A4

Expression for SLC26A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC26A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC26A4 Gene

This gene is overexpressed in Thyroid (x34.9).

Protein differential expression in normal tissues from HIPED for SLC26A4 Gene

This gene is overexpressed in Urine (44.4) and Pancreas (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC26A4 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC26A4 Gene:

SLC26A4

SOURCE GeneReport for Unigene cluster for SLC26A4 Gene:

Hs.571246

mRNA Expression by UniProt/SwissProt for SLC26A4 Gene:

O43511-S26A4_HUMAN
Tissue specificity: High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.

Evidence on tissue expression from TISSUES for SLC26A4 Gene

  • Thyroid gland(4.7)
  • Nervous system(4.7)
  • Kidney(2.7)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC26A4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
  • rectum
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SLC26A4: view

Primer Products

No data available for Protein tissue co-expression partners for SLC26A4 Gene

Orthologs for SLC26A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC26A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC26A4 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia SLC26A4 34 35
  • 89.06 (n)
cow
(Bos Taurus)
Mammalia SLC26A4 34 35
  • 88.59 (n)
mouse
(Mus musculus)
Mammalia Slc26a4 34 16 35
  • 85.38 (n)
rat
(Rattus norvegicus)
Mammalia Slc26a4 34
  • 85.04 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC26A4 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A4 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A4 34 35
  • 74.91 (n)
lizard
(Anolis carolinensis)
Reptilia SLC26A4 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc26a4 34
  • 68.57 (n)
Str.15488 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.14481 34
zebrafish
(Danio rerio)
Actinopterygii slc26a4 34
  • 61.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5485 36
  • 30 (a)
CG9702 36
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea W04G3.6 36
  • 37 (a)
ZK287.2 36
  • 36 (a)
K12G11.2 36
  • 32 (a)
F14D12.5 36
  • 31 (a)
K12G11.1 36
  • 30 (a)
W01B11.2 36
  • 30 (a)
Species where no ortholog for SLC26A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A4 Gene

ENSEMBL:
Gene Tree for SLC26A4 (if available)
TreeFam:
Gene Tree for SLC26A4 (if available)

Paralogs for SLC26A4 Gene

genes like me logo Genes that share paralogs with SLC26A4: view

Variants for SLC26A4 Gene

Sequence variations from dbSNP and Humsavar for SLC26A4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs111033199 Pathogenic, Pendred syndrome (PDS) [MIM:274600] 107,672,245(+) TCTCA(A/G/T)TTGGT reference, missense
rs111033205 Pathogenic, Pendred syndrome (PDS) [MIM:274600] 107,661,726(+) ACAGC(C/G/T)AGCTC nc-transcript-variant, reference, missense
rs111033212 Pathogenic, Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791], Pendred syndrome (PDS) [MIM:274600] 107,689,054(+) CTAGG(A/C/T)TTTTG reference, missense
rs111033220 Pathogenic, Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791], Pendred syndrome (PDS) [MIM:274600] 107,690,203(+) CCGCA(C/T)GGCCG reference, missense
rs111033244 Pathogenic, Pendred syndrome (PDS) [MIM:274600] 107,690,125(+) TTAGG(A/G)ATTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC26A4 Gene

Variant ID Type Subtype PubMed ID
esv2734988 CNV deletion 23290073
nsv1074545 CNV deletion 25765185
nsv1124255 CNV deletion 24896259
nsv518018 CNV loss 19592680

Variation tolerance for SLC26A4 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.12; 75.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC26A4 Gene

Human Gene Mutation Database (HGMD)
SLC26A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC26A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A4 Gene

Disorders for SLC26A4 Gene

MalaCards: The human disease database

(41) MalaCards diseases for SLC26A4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pendred syndrome
  • congenital hypothyroidism due to dyshormonogenesis 2b
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
  • enlarged vestibular aqueduct, digenic
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
  • hypothyroidism, congenital, nongoitrous, 1
athyreosis
pendred syndrome/dfnb4
  • autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct,goiter
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S26A4_HUMAN
  • Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct. {ECO:0000269 PubMed:10190331, ECO:0000269 PubMed:10700480, ECO:0000269 PubMed:11748854, ECO:0000269 PubMed:12676893, ECO:0000269 PubMed:14508505, ECO:0000269 PubMed:14679580, ECO:0000269 PubMed:19204907, ECO:0000269 PubMed:20108392, ECO:0000269 PubMed:20597900, ECO:0000269 PubMed:9500541}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pendred syndrome (PDS) [MIM:274600]: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. {ECO:0000269 PubMed:10602116, ECO:0000269 PubMed:10718825, ECO:0000269 PubMed:10878664, ECO:0000269 PubMed:11317356, ECO:0000269 PubMed:11375792, ECO:0000269 PubMed:11748854, ECO:0000269 PubMed:11919333, ECO:0000269 PubMed:11932316, ECO:0000269 PubMed:12788906, ECO:0000269 PubMed:12974744, ECO:0000269 PubMed:14679580, ECO:0000269 PubMed:15355436, ECO:0000269 PubMed:15531480, ECO:0000269 PubMed:15689455, ECO:0000269 PubMed:19204907, ECO:0000269 PubMed:9398842, ECO:0000269 PubMed:9618166, ECO:0000269 PubMed:9618167}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC26A4

Genetic Association Database (GAD)
SLC26A4
Human Genome Epidemiology (HuGE) Navigator
SLC26A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC26A4
genes like me logo Genes that share disorders with SLC26A4: view

No data available for Genatlas for SLC26A4 Gene

Publications for SLC26A4 Gene

  1. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? (PMID: 19204907) Choi B.Y. … Griffith A.J. (Hum. Mutat. 2009) 3 4 22 46 64
  2. A novel mutation in the pendrin gene associated with Pendred's syndrome. (PMID: 10718825) Bogazzi F. … Bartalena L. (Clin. Endocrinol. (Oxf.) 2000) 3 4 22 46 64
  3. Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA). (PMID: 20597900) Pourova R. … Seeman P. (Ann. Hum. Genet. 2010) 3 4 46 64
  4. Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. (PMID: 19648736) Wu C.C. … Hsu C.J. (Audiol. Neurootol. 2010) 3 22 46 64
  5. Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. (PMID: 19786220) Reyes S. … Liu X.Z. (Otolaryngol Head Neck Surg 2009) 3 22 46 64

Products for SLC26A4 Gene

Sources for SLC26A4 Gene

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