This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasm... See more...

Aliases for SLC5A7 Gene

Aliases for SLC5A7 Gene

  • Solute Carrier Family 5 Member 7 2 3 4 5
  • CHT1 2 3 4
  • Solute Carrier Family 5 (Sodium/Choline Cotransporter), Member 7 2 3
  • High Affinity Choline Transporter 1 3 4
  • CHT 3 4
  • High Affinity Choline Transporter; Hemicholinium-3-Sensitive Choline Transporter 3
  • Solute Carrier Family 5 (Choline Transporter), Member 7 2
  • Hemicholinium-3-Sensitive Choline Transporter 4
  • SLC5A7 5
  • CMS20 3
  • HMN7A 3
  • HCHT 2

External Ids for SLC5A7 Gene

Previous GeneCards Identifiers for SLC5A7 Gene

  • GC02P106508
  • GC02P107083
  • GC02P108207
  • GC02P108224
  • GC02P108061
  • GC02P108602
  • GC02P102202

Summaries for SLC5A7 Gene

Entrez Gene Summary for SLC5A7 Gene

  • This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

GeneCards Summary for SLC5A7 Gene

SLC5A7 (Solute Carrier Family 5 Member 7) is a Protein Coding gene. Diseases associated with SLC5A7 include Myasthenic Syndrome, Congenital, 20, Presynaptic and Neuronopathy, Distal Hereditary Motor, Type Viia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include transporter activity and choline transmembrane transporter activity. An important paralog of this gene is SLC5A2.

UniProtKB/Swiss-Prot Summary for SLC5A7 Gene

  • Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC5A7 Gene

Genomics for SLC5A7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC5A7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J107987 Promoter 0.8 EPDnew Ensembl 250.7 +0.2 177 0.6 SIN3A EZH2 SLC5A7 lnc-RGPD4-4 RGPD4 piR-61539-006 SULT1C3
GH02J107986 Promoter 0.4 EPDnew 250.7 -0.2 -239 0.1 SIN3A SLC5A7 lnc-RGPD4-4 RGPD4 piR-34977-003
GH02J108025 Enhancer 0.5 Ensembl 0.3 +40.1 40078 1.6 MAFF ZNF316 MAFK MAFG USF1 EMSY piR-61539-006 SLC5A7 lnc-RGPD4-4 SULT1C3
GH02J107932 Enhancer 0.6 Ensembl ENCODE 0.2 -54.3 -54268 1.2 NFIC NFIB CTCF SRSF3P5 piR-34977-003 SLC5A7 RGPD4
GH02J107826 Promoter 0.7 EPDnew Ensembl 0.1 -157.5 -157522 4.4 RGPD4 RGPD4-AS1 HSALNG0017696 piR-44301-002 SLC5A7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC5A7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC5A7

Top Transcription factor binding sites by QIAGEN in the SLC5A7 gene promoter:
  • ATF-2
  • CREB
  • deltaCREB
  • Egr-1
  • Egr-4
  • NRSF form 1
  • NRSF form 2
  • p53
  • Pax-4a
  • Roaz

Genomic Locations for SLC5A7 Gene

Latest Assembly
chr2:107,986,523-108,014,497
(GRCh38/hg38)
Size:
27,975 bases
Orientation:
Plus strand

Previous Assembly
chr2:108,602,980-108,630,450
(GRCh37/hg19 by Entrez Gene)
Size:
27,471 bases
Orientation:
Plus strand

chr2:108,602,979-108,630,450
(GRCh37/hg19 by Ensembl)
Size:
27,472 bases
Orientation:
Plus strand

Genomic View for SLC5A7 Gene

Genes around SLC5A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A7 Gene

Proteins for SLC5A7 Gene

  • Protein details for SLC5A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZV3-SC5A7_HUMAN
    Recommended name:
    High affinity choline transporter 1
    Protein Accession:
    Q9GZV3
    Secondary Accessions:
    • Q53TF2

    Protein attributes for SLC5A7 Gene

    Size:
    580 amino acids
    Molecular mass:
    63204 Da
    Quaternary structure:
    • Homooligomerizes at cell surface (PubMed:23132865). Interacts with SEC14L1; may regulate SLC5A7 (PubMed:17092608).
    Miscellaneous:
    • Specifically inhibited by nanomolar concentrations of hemicholinium 3.

neXtProt entry for SLC5A7 Gene

Post-translational modifications for SLC5A7 Gene

No data available for DME Specific Peptides for SLC5A7 Gene

Domains & Families for SLC5A7 Gene

Gene Families for SLC5A7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC5A7 Gene

InterPro:
Blocks:
  • Na+/solute symporter

Suggested Antigen Peptide Sequences for SLC5A7 Gene

GenScript: Design optimal peptide antigens:
  • SLC5A7 protein (Q2T9H3_HUMAN)
  • Solute carrier family 5 member 7 (SC5A7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZV3

UniProtKB/Swiss-Prot:

SC5A7_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Family:
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A7: view

Function for SLC5A7 Gene

Molecular function for SLC5A7 Gene

UniProtKB/Swiss-Prot Function:
Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.

Gene Ontology (GO) - Molecular Function for SLC5A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005307 choline:sodium symporter activity IBA,IMP 12237312
GO:0015220 choline transmembrane transporter activity IEA,TAS --
GO:0015293 symporter activity IEA --
GO:0022857 transmembrane transporter activity IEA --
GO:0033265 choline binding IEA --
genes like me logo Genes that share ontologies with SLC5A7: view
genes like me logo Genes that share phenotypes with SLC5A7: view

Human Phenotype Ontology for SLC5A7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC5A7 Gene

MGI Knock Outs for SLC5A7:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A7

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SLC5A7 Gene

Localization for SLC5A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A7 Gene

Membrane. Multi-pass membrane protein. Cell membrane. Cell junction, synapse. Note=Localized at the neuromuscular junction. {ECO:0000269 PubMed:27569547}.

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 SLC5A7 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Intermediate filaments (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC5A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 11027560
GO:0030054 cell junction IEA --
GO:0030424 axon IBA 21873635
genes like me logo Genes that share ontologies with SLC5A7: view

Pathways & Interactions for SLC5A7 Gene

genes like me logo Genes that share pathways with SLC5A7: view

Interacting Proteins for SLC5A7 Gene

Gene Ontology (GO) - Biological Process for SLC5A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007269 neurotransmitter secretion TAS --
GO:0007271 synaptic transmission, cholinergic IEA,IBA 21873635
genes like me logo Genes that share ontologies with SLC5A7: view

No data available for SIGNOR curated interactions for SLC5A7 Gene

Drugs & Compounds for SLC5A7 Gene

(7) Drugs for SLC5A7 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Transporter, substrate 240
Choline salicylate Approved Nutra Transporter, substrate 0
Chloride ion Experimental Pharma 0
[<sup>3</sup>H]hemicholinium-3 Pharma 0
hemicholinium-3 Pharma Inhibitor, Inhibition 0

(2) Additional Compounds for SLC5A7 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5

(1) ApexBio Compounds for SLC5A7 Gene

Compound Action Cas Number
ML352 Non-competitive inhibitor of the presynaptic choline transporter 1649450-12-3
genes like me logo Genes that share compounds with SLC5A7: view

Drug products for research

Transcripts for SLC5A7 Gene

mRNA/cDNA for SLC5A7 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A7

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A7 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2:

Relevant External Links for SLC5A7 Gene

GeneLoc Exon Structure for
SLC5A7

Expression for SLC5A7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC5A7 Gene

mRNA differential expression in normal tissues according to GTEx for SLC5A7 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x8.4), Brain - Caudate (basal ganglia) (x7.5), Colon - Sigmoid (x5.6), and Bladder (x4.7).

Protein differential expression in normal tissues from HIPED for SLC5A7 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC5A7 Gene



Protein tissue co-expression partners for SLC5A7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC5A7

SOURCE GeneReport for Unigene cluster for SLC5A7 Gene:

Hs.287758

mRNA Expression by UniProt/SwissProt for SLC5A7 Gene:

Q9GZV3-SC5A7_HUMAN
Tissue specificity: Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons.

Evidence on tissue expression from TISSUES for SLC5A7 Gene

  • Nervous system(4.5)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC5A7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • face
  • head
  • larynx
  • neck
  • vocal cord
Limb:
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SLC5A7: view

Primer products for research

Orthologs for SLC5A7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC5A7 29 30
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC5A7 29 30
  • 88.89 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A7 30
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC5A7 30
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc5a7 29
  • 87.47 (n)
Mouse
(Mus musculus)
Mammalia Slc5a7 29 16 30
  • 86.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC5A7 29 30
  • 84.25 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SLC5A7 29 30
  • 78.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC5A7 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc5a7 29
  • 73.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii SLC5A7 (2 of 2) 30
  • 73 (a)
OneToMany
SLC5A7 (1 of 2) 30
  • 72 (a)
OneToMany
si:dkey-24h22.4 29
  • 69.04 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7708 29 30 31
  • 57.95 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002366 29
  • 57.64 (n)
Worm
(Caenorhabditis elegans)
Secernentea cho-1 29 30 31
  • 56.23 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 59 (a)
OneToMany
-- 30
  • 57 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11892 29
Species where no ortholog for SLC5A7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 SLC5A7 Gene

ENSEMBL:
Gene Tree for SLC5A7 (if available)
TreeFam:
Gene Tree for SLC5A7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC5A7: view image
Alliance of Genome Resources:
Additional Orthologs for SLC5A7

Paralogs for SLC5A7 Gene

genes like me logo Genes that share paralogs with SLC5A7: view

Variants for SLC5A7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC5A7 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1003108 Uncertain Significance: Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 108,010,236(+) C/T
NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu)
MISSENSE
1007028 Uncertain Significance: Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 107,997,840(+) G/A
NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1007426 Uncertain Significance: Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 107,988,165(+) C/G
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp)
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
1009227 Uncertain Significance: Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 107,992,204(+) C/A
NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1009672 Uncertain Significance: Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 107,992,220(+) G/A
NM_021815.5(SLC5A7):c.292+1G>A
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC5A7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC5A7 Gene

Variant ID Type Subtype PubMed ID
dgv153e55 CNV gain 17911159
dgv4034n100 CNV gain 25217958
dgv4035n100 CNV gain 25217958
dgv4036n100 CNV gain 25217958
dgv724e199 CNV deletion 23128226
esv2720498 CNV deletion 23290073
esv2759081 CNV gain 17122850
esv3591913 CNV gain 21293372
esv3591916 CNV gain 21293372
esv3591917 CNV gain 21293372
nsv438365 CNV loss 16468122
nsv469771 CNV loss 16826518
nsv527491 CNV loss 19592680
nsv527686 CNV gain 19592680
nsv834326 CNV gain 17160897

Variation tolerance for SLC5A7 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.20; 61.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC5A7 Gene

Human Gene Mutation Database (HGMD)
SLC5A7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A7
Leiden Open Variation Database (LOVD)
SLC5A7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A7 Gene

Disorders for SLC5A7 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SLC5A7 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 20, presynaptic
  • cms20
neuronopathy, distal hereditary motor, type viia
  • hmn7a
distal hereditary motor neuropathy type 7
  • distal spinal muscular atrophy with vocal cord paralysis
presynaptic congenital myasthenic syndromes
  • presynaptic congenital myasthenic syndrome
congenital myasthenic syndrome
  • congenital myasthenic syndromes
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC5A7_HUMAN
  • Neuronopathy, distal hereditary motor, 7A (HMN7A) [MIM:158580]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve. {ECO:0000269 PubMed:23141292}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS20 is an autosomal recessive, pre-synaptic form characterized by severe hypotonia and episodic apnea soon after birth, generalized limb fatigability and weakness, delayed walking, ptosis, poor sucking and swallowing. {ECO:0000269 PubMed:27569547}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC5A7

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC5A7: view

No data available for Genatlas for SLC5A7 Gene

Publications for SLC5A7 Gene

  1. Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. (PMID: 11027560) Apparsundaram S … Blakely RD (Biochemical and biophysical research communications 2000) 2 3 4 22
  2. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. (PMID: 27569547) Bauché S … Nicole S (American journal of human genetics 2016) 3 4 72
  3. Defective presynaptic choline transport underlies hereditary motor neuropathy. (PMID: 23141292) Barwick KE … Crosby AH (American journal of human genetics 2012) 3 4 72
  4. SEC14-like protein 1 interacts with cholinergic transporters. (PMID: 17092608) Ribeiro FM … Prado VF (Neurochemistry international 2007) 3 4 22
  5. Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function. (PMID: 16876130) Neumann SA … Hariri AR (Biological psychiatry 2006) 3 22 40

Products for SLC5A7 Gene

Sources for SLC5A7 Gene