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Aliases for SLC44A2 Gene

Aliases for SLC44A2 Gene

  • Solute Carrier Family 44 Member 2 2 3 4
  • Solute Carrier Family 44 (Choline Transporter), Member 2 2 3 5
  • CTL2 3 4
  • Solute Carrier Family 44, Member 2 3
  • Testicular Tissue Protein Li 47 3
  • PP1292 3

External Ids for SLC44A2 Gene

Previous GeneCards Identifiers for SLC44A2 Gene

  • GC19P010713
  • GC19P010290

Summaries for SLC44A2 Gene

GeneCards Summary for SLC44A2 Gene

SLC44A2 (Solute Carrier Family 44 Member 2) is a Protein Coding gene. Diseases associated with SLC44A2 include Vitreous Detachment and Toxocariasis. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. GO annotations related to this gene include signal transducer activity and choline transmembrane transporter activity. An important paralog of this gene is SLC44A1.

UniProtKB/Swiss-Prot for SLC44A2 Gene

  • Isoform 1, but not isoform 3, exhibits some choline transporter activity.

Gene Wiki entry for SLC44A2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC44A2 Gene

Genomics for SLC44A2 Gene

Regulatory Elements for SLC44A2 Gene

Enhancers for SLC44A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC44A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC44A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC44A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC44A2 Gene

Chromosome:
19
Start:
10,602,445 bp from pter
End:
10,644,559 bp from pter
Size:
42,115 bases
Orientation:
Plus strand

Genomic View for SLC44A2 Gene

Genes around SLC44A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC44A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC44A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC44A2 Gene

Proteins for SLC44A2 Gene

  • Protein details for SLC44A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWA5-CTL2_HUMAN
    Recommended name:
    Choline transporter-like protein 2
    Protein Accession:
    Q8IWA5
    Secondary Accessions:
    • B2RBB1
    • B3KNH3
    • B4DFJ0
    • F2Q9D7
    • Q658V1
    • Q658Z2
    • Q6PJV7
    • Q8N2F0
    • Q9NY68

    Protein attributes for SLC44A2 Gene

    Size:
    706 amino acids
    Molecular mass:
    80124 Da
    Quaternary structure:
    • Interacts with COCH.
    SequenceCaution:
    • Sequence=BAC11662.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC44A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC44A2 Gene

Proteomics data for SLC44A2 Gene at MOPED

Post-translational modifications for SLC44A2 Gene

  • Glycosylation at Asn 187, Asn 200, and Asn 417
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC44A2 Gene

Domains & Families for SLC44A2 Gene

Gene Families for SLC44A2 Gene

Protein Domains for SLC44A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC44A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWA5

UniProtKB/Swiss-Prot:

CTL2_HUMAN :
  • Belongs to the CTL (choline transporter-like) family.
Family:
  • Belongs to the CTL (choline transporter-like) family.
genes like me logo Genes that share domains with SLC44A2: view

Function for SLC44A2 Gene

Molecular function for SLC44A2 Gene

UniProtKB/Swiss-Prot Function:
Isoform 1, but not isoform 3, exhibits some choline transporter activity.
genes like me logo Genes that share phenotypes with SLC44A2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC44A2

CRISPR Products

miRNA for SLC44A2 Gene

miRTarBase miRNAs that target SLC44A2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC44A2 Gene

Localization for SLC44A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC44A2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC44A2 Gene COMPARTMENTS Subcellular localization image for SLC44A2 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytoskeleton 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC44A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC44A2: view

Pathways & Interactions for SLC44A2 Gene

genes like me logo Genes that share pathways with SLC44A2: view

Pathways by source for SLC44A2 Gene

Interacting Proteins for SLC44A2 Gene

Gene Ontology (GO) - Biological Process for SLC44A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0007165 signal transduction IMP 12761501
GO:0015871 choline transport TAS 10677542
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC44A2: view

No data available for SIGNOR curated interactions for SLC44A2 Gene

Drugs & Compounds for SLC44A2 Gene

(1) Drugs for SLC44A2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Transporter, substrate 139
genes like me logo Genes that share compounds with SLC44A2: view

Transcripts for SLC44A2 Gene

Unigene Clusters for SLC44A2 Gene

Solute carrier family 44, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC44A2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ·
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7: - - - - - - - - - - - - - - - - - - -
SP8:
SP9: -
SP10: -
SP11:

ExUns: 16d · 16e ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b
SP1: - -
SP2: - -
SP3: - - - -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SLC44A2 Gene

GeneLoc Exon Structure for
SLC44A2
ECgene alternative splicing isoforms for
SLC44A2

Expression for SLC44A2 Gene

mRNA expression in normal human tissues for SLC44A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC44A2 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for SLC44A2 Gene

This gene is overexpressed in Nasal epithelium (43.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC44A2 Gene



SOURCE GeneReport for Unigene cluster for SLC44A2 Gene Hs.534560

mRNA Expression by UniProt/SwissProt for SLC44A2 Gene

Q8IWA5-CTL2_HUMAN
Tissue specificity: Present in supporting cells of the inner ear (at protein level). Only isoform 3 is expressed in inner ear vestibular tissue.
genes like me logo Genes that share expression patterns with SLC44A2: view

Protein tissue co-expression partners for SLC44A2 Gene

Primer Products

Orthologs for SLC44A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC44A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC44A2 35
  • 87.77 (n)
  • 90.04 (a)
SLC44A2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC44A2 35
  • 89.73 (n)
  • 93.89 (a)
SLC44A2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc44a2 35
  • 84.78 (n)
  • 90.47 (a)
Slc44a2 16
Slc44a2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC44A2 35
  • 99.76 (n)
  • 99.72 (a)
SLC44A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc44a2 35
  • 84.95 (n)
  • 91.31 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC44A2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC44A2 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC44A2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC44A2 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc44a2 35
  • 72.68 (n)
  • 76.99 (a)
Str.7588 35
zebrafish
(Danio rerio)
Actinopterygii sbcb39 35
slc44a2 35
  • 69.24 (n)
  • 70.16 (a)
slc44a2 36
  • 67 (a)
OneToMany
SLC44A2 (1 of 2) 36
  • 63 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10852 35
fruit fly
(Drosophila melanogaster)
Insecta CG11880 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chtl-1 36
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 36
  • 19 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15380 35
  • 42.49 (n)
  • 27 (a)
rice
(Oryza sativa)
Liliopsida Os04g0681600 35
  • 43.59 (n)
  • 28.83 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12838 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for SLC44A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC44A2 Gene

ENSEMBL:
Gene Tree for SLC44A2 (if available)
TreeFam:
Gene Tree for SLC44A2 (if available)

Paralogs for SLC44A2 Gene

Paralogs for SLC44A2 Gene

(4) SIMAP similar genes for SLC44A2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SLC44A2: view

Variants for SLC44A2 Gene

Sequence variations from dbSNP and Humsavar for SLC44A2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2288904 - 10,631,494(-) CATCT(C/T)GAAGC reference, missense
rs12976886 -- 10,607,763(+) ttttt(G/T)gagac intron-variant
rs12977297 -- 10,606,911(+) CGGCt(A/T)ttttt intron-variant
rs7507834 -- 10,614,785(+) ggcca(A/G)catgg intron-variant
rs12979469 -- 10,619,676(+) CCgcc(A/G)gacgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC44A2 Gene

Variant ID Type Subtype PubMed ID
nsv833744 CNV Loss 17160897
nsv911042 CNV Loss 21882294
nsv833745 CNV Loss 17160897
nsv911046 CNV Loss 21882294
nsv911047 CNV Loss 21882294
nsv911048 CNV Loss 21882294

Variation tolerance for SLC44A2 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC44A2 Gene

Human Gene Mutation Database (HGMD)
SLC44A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC44A2 Gene

Disorders for SLC44A2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC44A2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
vitreous detachment
toxocariasis
  • infection by toxascaris
choline deficiency disease
  • choline deficiency
chorioretinitis
  • retinochoroiditis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC44A2

Human Genome Epidemiology (HuGE) Navigator
SLC44A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC44A2
genes like me logo Genes that share disorders with SLC44A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC44A2 Gene

Publications for SLC44A2 Gene

  1. An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins. (PMID: 10677542) O'Regan S. … Meunier F.-M. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 67
  2. Characterization of the human neutrophil alloantigen-3a. (PMID: 20037594) Greinacher A. … Bux J. (Nat. Med. 2010) 3 23
  3. The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution. (PMID: 20040764) Curtis B.R. … Aster R.H. (Blood 2010) 3 23
  4. Involvement of choline transporter-like proteins, CTL1 and CTL2, in glucocorticoid-induced acceleration of phosphatidylcholine synthesis via increased choline uptake. (PMID: 20410607) Nakamura T. … Tamai I. (Biol. Pharm. Bull. 2010) 3 23
  5. Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear. (PMID: 17926100) Kommareddi P.K. … Carey T.E. (J. Assoc. Res. Otolaryngol. 2007) 3 23

Products for SLC44A2 Gene

Sources for SLC44A2 Gene

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