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    SLC44A2 solute carrier family 44 member 2 (CTL2 blood group) [ Homo sapiens (human) ]

    Gene ID: 57153, updated on 3-Apr-2024

    Summary

    Official Symbol
    SLC44A2provided by HGNC
    Official Full Name
    solute carrier family 44 member 2 (CTL2 blood group)provided by HGNC
    Primary source
    HGNC:HGNC:17292
    See related
    Ensembl:ENSG00000129353 MIM:606106; AllianceGenome:HGNC:17292
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CTL2; PP1292
    Summary
    Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in mitochondrion and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 82.0), spleen (RPKM 69.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    19p13.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10602455..10644557)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10728929..10771033)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10713131..10755233)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 1 subunit mu 2 Neighboring gene MPRA-validated peak3354 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10703269-10703793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10704320-10704844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10085 Neighboring gene LSM2 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10734687-10735268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10747236-10747758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10763030-10763532 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10763533-10764034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10087 Neighboring gene ILF3 divergent transcript Neighboring gene interleukin enhancer binding factor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10801737-10802532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10802533-10803326

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ44586, DKFZp666A071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables choline transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables choline transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables ethanolamine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    choline transporter-like protein 2
    Names
    solute carrier family 44 (choline transporter), member 2
    testicular tissue protein Li 47

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145056.2NP_001138528.1  choline transporter-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001138528.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (2) has a shorter, distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC011475, AK027519, BI602883, DA628435
      Consensus CDS
      CCDS54216.1
      UniProtKB/TrEMBL
      A0A024R798, A0A088QCU6
      Related
      ENSP00000385135.3, ENST00000407327.8
      Conserved Domains (1) summary
      pfam04515
      Location:335673
      Choline_transpo; Plasma-membrane choline transporter
    2. NM_001363611.2NP_001350540.1  choline transporter-like protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC011475, AU310140, BC040556, DA673268, DA749803, HY323543
      Consensus CDS
      CCDS86700.1
      UniProtKB/TrEMBL
      A0A024R798
      Conserved Domains (1) summary
      pfam04515
      Location:337675
      Choline_transpo; Plasma-membrane choline transporter
    3. NM_020428.4NP_065161.3  choline transporter-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_065161.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant encodes isoform 1.
      Source sequence(s)
      AC011475, BC040556, DA673268, DA749803
      Consensus CDS
      CCDS12245.1
      UniProtKB/Swiss-Prot
      B2RBB1, B3KNH3, B4DFJ0, F2Q9D7, Q658V1, Q658Z2, Q6PJV7, Q8IWA5, Q8N2F0, Q9NY68
      UniProtKB/TrEMBL
      A0A024R798
      Related
      ENSP00000336888.4, ENST00000335757.10
      Conserved Domains (1) summary
      pfam04515
      Location:337675
      Choline_transpo; Plasma-membrane choline transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      10602455..10644557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439113.1XP_047295069.1  choline transporter-like protein 2 isoform X2

    2. XM_047439112.1XP_047295068.1  choline transporter-like protein 2 isoform X1

      Related
      ENSP00000466664.1, ENST00000586078.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10728929..10771033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321513.1XP_054177488.1  choline transporter-like protein 2 isoform X2

    2. XM_054321514.1XP_054177489.1  choline transporter-like protein 2 isoform X3

    3. XM_054321512.1XP_054177487.1  choline transporter-like protein 2 isoform X1