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Aliases for SLC44A2 Gene

Aliases for SLC44A2 Gene

  • Solute Carrier Family 44 Member 2 2 3 4 5
  • Solute Carrier Family 44 (Choline Transporter), Member 2 2 3
  • CTL2 3 4
  • Choline Transporter-Like Protein 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 Deafness, Autosomal Recessive 68 and Choline Deficiency Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Innate Immune System. Gene Ontology (GO) annotations related to this gene include signal transducer activity and choline transmembrane transporter activity. An important paralog of this gene is SLC44A5.

UniProtKB/Swiss-Prot for SLC44A2 Gene

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

Gene Wiki entry for SLC44A2 Gene

Additional gene information for SLC44A2 Gene

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

Genomics for SLC44A2 Gene

GeneHancer (GH) Regulatory Elements for SLC44A2 Gene

Promoters and enhancers for SLC44A2 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
GH19I010601 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 584.4 +1.7 1678 4.4 ARID4B DMAP1 ZNF2 TCF12 ZNF121 ZNF766 GLIS2 ZNF213 ZNF143 KLF7 SLC44A2 CDKN2D KRI1 ICAM3 ILF3 ZNF627 PRKCSH TYK2 DNM2 S1PR5
GH19I010624 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 572.5 +23.0 22971 2.1 PKNOX1 ZNF473 NFIB KLF17 SIN3A ZNF2 ZBTB7B ZNF48 ZNF335 ZNF121 SLC44A2 ELOF1 DNMT1 PIR56383
GH19I010717 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.9 +116.7 116710 3.7 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B DNM2 GC19P010718 MIR638 KRI1 EIF3G ILF3 FBXL12 RAVER1 TIMM29 PPAN
GH19I010651 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 17.6 +51.8 51769 5.1 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ILF3 ILF3-AS1 GC19M010652 PIR56383 PIR39434 FBXL12 ZNF627 LOC100419831 RAVER1 KRI1
GH19I010615 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25.1 +14.8 14841 4.1 HDGF PKNOX1 SMAD1 ATF1 ARNT ZBTB7B TCF12 ZNF766 GATA2 ELK1 SLC44A2 KRI1 ILF3 TIMM29 PPAN ZNF627 ZNF561 AP1M2 FBXL12 ILF3-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC44A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC44A2 gene promoter:

Genomic Locations for SLC44A2 Gene

Genomic Locations for SLC44A2 Gene
chr19:10,602,445-10,644,559
(GRCh38/hg38)
Size:
42,115 bases
Orientation:
Plus strand
chr19:10,713,121-10,755,235
(GRCh37/hg19)

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

Post-translational modifications for SLC44A2 Gene

  • Glycosylation at isoforms=2, 3187, isoforms=2, 3200, and posLast=417417

No data available for DME Specific Peptides for SLC44A2 Gene

Domains & Families for SLC44A2 Gene

Gene Families for SLC44A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for SLC44A2 Gene

Gene Ontology (GO) - Molecular Function for SLC44A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity HMP 12761501
GO:0015220 choline transmembrane transporter activity TAS 10677542
genes like me logo Genes that share ontologies with SLC44A2: view
genes like me logo Genes that share phenotypes with SLC44A2: view

Animal Models for SLC44A2 Gene

MGI Knock Outs for SLC44A2:

Animal Model Products

miRNA for SLC44A2 Gene

miRTarBase miRNAs that target SLC44A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 SLC44A2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
cytoskeleton 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC44A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA,HDA 17897319
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA 10677542
GO:0035579 specific granule membrane TAS --
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:0006810 transport IEA --
GO:0007165 signal transduction IEA --
GO:0015871 choline transport TAS 10677542
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP,IMP 12761501
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 176
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SLC44A2 Gene



Protein tissue co-expression partners for SLC44A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC44A2 Gene:

SLC44A2

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.

Evidence on tissue expression from TISSUES for SLC44A2 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Stomach(4.5)
  • Eye(4.3)
  • Liver(4.3)
  • Kidney(2.9)
  • Intestine(2.4)
  • Muscle(2.4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with SLC44A2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC44A2 Gene

Orthologs for SLC44A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC44A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC44A2 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia SLC44A2 33 34
  • 89.73 (n)
cow
(Bos Taurus)
Mammalia SLC44A2 33 34
  • 87.77 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC44A2 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc44a2 33
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia Slc44a2 33 16 34
  • 84.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC44A2 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC44A2 34
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC44A2 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc44a2 33
  • 72.68 (n)
Str.7588 33
zebrafish
(Danio rerio)
Actinopterygii slc44a2 33 34
  • 69.24 (n)
SLC44A2 (1 of 2) 34
  • 63 (a)
OneToMany
sbcb39 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10852 33
fruit fly
(Drosophila melanogaster)
Insecta CG11880 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chtl-1 34
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 34
  • 19 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15380 33
  • 42.49 (n)
rice
(Oryza sativa)
Liliopsida Os04g0681600 33
  • 43.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12838 33
Species where no ortholog for SLC44A2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000108234 -- 10,608,206(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000115013 -- 10,629,747(+) A/G intron_variant
rs1000202185 -- 10,644,282(+) C/T 3_prime_UTR_variant
rs1000224973 -- 10,623,182(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000281983 -- 10,616,982(+) C/G/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1071907 CNV deletion 25765185
nsv1127651 CNV deletion 24896259
nsv1160584 CNV deletion 26073780
nsv833744 CNV loss 17160897
nsv833745 CNV loss 17160897

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)

Additional Variant Information for SLC44A2 Gene

Human Gene Mutation Database (HGMD)
SLC44A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC44A2

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

Disorders for SLC44A2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC44A2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 68
  • dfnb68
choline deficiency disease
  • choline deficiency
deafness, autosomal dominant 9
  • dfna9
vitreous detachment
  • posterior vitreous detachment
meniere disease
  • meniere's disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear. (PMID: 17926100) Kommareddi PK … Carey TE (Journal of the Association for Research in Otolaryngology : JARO 2007) 3 4 22 58
  2. Identification and characterization of choline transporter-like protein 2, an inner ear glycoprotein of 68 and 72 kDa that is the target of antibody-induced hearing loss. (PMID: 14973250) Nair TS … Carey TE (The Journal of neuroscience : the official journal of the Society for Neuroscience 2004) 3 4 22 58
  3. 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 FM (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 58
  4. Characterization of the human neutrophil alloantigen-3a. (PMID: 20037594) Greinacher A … Bux J (Nature medicine 2010) 3 22 58
  5. 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 BR … Aster RH (Blood 2010) 3 22 58

Products for SLC44A2 Gene

Sources for SLC44A2 Gene

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