Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57153
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 44 member 2 (CTL2 blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC44A2
Synonyms (NCBI Gene) Gene synonyms aliases
CTL2, PP1292
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion IDA 26746385
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005886 Component Plasma membrane IDA 26746385
GO:0005886 Component Plasma membrane TAS
GO:0006656 Process Phosphatidylcholine biosynthetic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606106 17292 ENSG00000129353
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 30664745
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
24076602
Unknown
Disease term Disease name Evidence References Source
Ischemic stroke Ischemic stroke 26908601 ClinVar
Multiple Sclerosis Multiple Sclerosis GWAS
Bipolar Disorder Bipolar Disorder GWAS
Associations from Text Mining
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