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    CD164L2 CD164 molecule like 2 [ Homo sapiens (human) ]

    Gene ID: 388611, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CD164L2provided by HGNC
    Official Full Name
    CD164 molecule like 2provided by HGNC
    Primary source
    HGNC:HGNC:32043
    See related
    Ensembl:ENSG00000174950 AllianceGenome:HGNC:32043
    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
    UNQ6122; EAPG6122
    Summary
    Predicted to be located in membrane. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in skin (RPKM 3.1), esophagus (RPKM 2.8) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CD164L2 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27379176..27383333, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27220481..27224643, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27705666..27709823, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27685945-27686480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27686481-27687016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27692433-27693376 Neighboring gene mitogen-activated protein kinase kinase kinase 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27693377-27694318 Neighboring gene ficolin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27717742-27718278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27718279-27718815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27719353-27719888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27720717-27721514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27725651-27726603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 548 Neighboring gene Sharpr-MPRA regulatory region 8314 Neighboring gene G protein-coupled receptor 3 Neighboring gene WASP family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 549 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27756559-27757532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 518

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A common genetic variant of FCN3/CD164L2 is associated with essential hypertension in a Chinese population. Lu J, et al. Clin Exp Hypertens, 2012. PMID 22471352
    2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Found that a common variant of FCN3/CD164L2 is associated with hypertension in Chinese population.
      Title: A common genetic variant of FCN3/CD164L2 is associated with essential hypertension in a Chinese population.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    CD164 sialomucin-like 2 protein

    NCBI Reference Sequences (RefSeq)

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    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_001330448.1 → NP_001317377.1  CD164 sialomucin-like 2 protein isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      FO393419
      Consensus CDS
      CCDS81287.1
      UniProtKB/Swiss-Prot
      B2RPJ0, Q5JXD6, Q6UWJ8
      Related
      ENSP00000363142.1, ENST00000374030.3
      Conserved Domains (1) summary
      pfam05283
      Location:54 → 173
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin

    2. NM_207397.5 → NP_997280.2  CD164 sialomucin-like 2 protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_997280.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) retains an intron in the 3' end compared to variant 1. The resulting isoform (2) is 1 aa shorter at the C-terminus compared to isoform 1.
      Source sequence(s)
      AY358761, DB114521, FO393419
      Consensus CDS
      CCDS302.1
      UniProtKB/Swiss-Prot
      Q6UWJ8
      Related
      ENSP00000363139.3, ENST00000374027.7
      Conserved Domains (1) summary
      pfam05283
      Location:54 → 173
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      27379176..27383333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541441.2 → XP_011539743.1  CD164 sialomucin-like 2 protein isoform X1

      See identical proteins and their annotated locations for XP_011539743.1

      Conserved Domains (1) summary
      pfam05283
      Location:54 → 173
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin

    RNA

    1. XR_241190.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      27220481..27224643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336508.1 → XP_054192483.1  CD164 sialomucin-like 2 protein isoform X1

    RNA

    1. XR_008486043.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWJ8.3 GenPept UniProtKB/Swiss-Prot:Q6UWJ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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