Gene Gene information from NCBI Gene database.
Entrez ID 57153
Gene name Solute carrier family 44 member 2 (CTL2 blood group)
Gene symbol SLC44A2
Synonyms (NCBI Gene)
CTL2PP1292
Chromosome 19
Chromosome location 19p13.2
miRNA miRNA information provided by mirtarbase database.
300
miRTarBase ID miRNA Experiments Reference
MIRT023182 hsa-miR-124-3p Microarray 18668037
MIRT1364331 hsa-miR-1207-5p CLIP-seq
MIRT1364332 hsa-miR-138 CLIP-seq
MIRT1364333 hsa-miR-183 CLIP-seq
MIRT1364334 hsa-miR-3166 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion IDA 26746385
GO:0005739 Component Mitochondrion IEA
GO:0005741 Component Mitochondrial outer membrane IDA 33789160
GO:0005741 Component Mitochondrial outer membrane IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606106 17292 ENSG00000129353
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWA5
Protein name Choline transporter-like protein 2 (Solute carrier family 44 member 2)
Protein function [Isoform 1]: Choline/H+ antiporter, mainly in mitochodria (PubMed:10677542, PubMed:20665236, PubMed:23651124, PubMed:33789160). Also acts as a low-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04515 Choline_transpo 320 676 Plasma-membrane choline transporter Family
Tissue specificity TISSUE SPECIFICITY: Present in supporting cells of the inner ear (at protein level). {ECO:0000269|PubMed:14973250, ECO:0000269|PubMed:20665236}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in inner ear vestibular tissue. {ECO:0000269|PubMed:20665236}.
Sequence
MGDERPHYYGKHGTPQKYDPTFKGPIYNRGCTDIICCVFLLLAIVGYVAVGIIAWTHGDP
RKVIYPTDSRGEFCGQKGTKNENKPYLFYFNIVKCASPLVLLEFQCPTPQICVEKCPDRY
LTYLNARSSRDFEYYKQFCVPGFKNNKGVAEVLQDGDCPAVLIPSKPLARRCFPAIHAYK
GVLMVGNETTYEDGHGSRKNITDLVEGAKKANGVLEARQLAMRIFEDYTVSWYWIIIGLV
IAMAMSLLFIILLRFLAGIMVWVMIIMVILVLGYGIFHCYMEYSRLRGEAGSDVSLVDLG
FQTDFRVYLHLRQTWLAFMIILSILEVIIILLLIFLRKRILIAIALIKEASRAVGYVMCS
LLYPLVTFFLLCLCIAYWASTAVFLSTSNEAVYKIFDDSPCPFTAKTCNPETFPSSNESR
QCPNARCQFAFYGGESGYHRALLGLQIFNAFMFFWLANFVLALGQVTLAGAFASYYWALR
KPDDLPAFPLFSAFGRALRYHTGSLAFGALILAIVQIIRVILEYLDQRLKAAENKFAKCL
MTCLKCCFWCLEKFIKFLNRNAYIMIAIYGTNFCTSARNAFFLLMRNIIRVAVLDKVTDF
LFLLGKLLIVGSVGILAFFFFTHRIRIVQDTAPPLNYYWVPILTVIVGSYLIAHGFFSVY
GMCVDTLFLCFLEDLE
RNDGSAERPYFMSSTLKKLLNKTNKKAAES
Sequence length 706
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Choline metabolism in cancer   Synthesis of PC
Transport of bile salts and organic acids, metal ions and amine compounds
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely benign rs142741358 RCV005929511
Gastric cancer Likely benign rs142741358 RCV005929514
Malignant tumor of esophagus Likely benign rs142741358 RCV005929512
Ovarian serous cystadenocarcinoma Likely benign rs142741358 RCV005929515
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 22040064
Blood Platelet Disorders Associate 36695047
Congenital central hypoventilation syndrome Associate 35451555
Coronary Artery Disease Associate 26908601, 27829169
Epilepsy Associate 36695047
Hearing Loss Associate 19319905, 27829169, 36695047
Heart Defects Congenital Associate 35451555
Heredodegenerative Disorders Nervous System Associate 33672580
Immunologic Deficiency Syndromes Inhibit 36695047
Intracranial Aneurysm Associate 36695047