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    C18orf54 chromosome 18 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 162681, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C18orf54provided by HGNC
    Official Full Name
    chromosome 18 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:13796
    See related
    Ensembl:ENSG00000166845 MIM:613258; AllianceGenome:HGNC:13796
    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
    LAS2
    Summary
    Predicted to act upstream of or within negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 6.1), placenta (RPKM 1.1) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C18orf54 in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54357906..54382035)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (54560986..54585121)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51884276..51908405)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13348 Neighboring gene DNA polymerase iota Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:51835674-51836224 Neighboring gene StAR related lipid transfer domain containing 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:51884780-51885291 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:51912942-51913627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13350 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 2 Neighboring gene cupin superfamily member 1, pseudogene

    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 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. C18ORF54 promotes immune infiltration and poor prognosis as a potential biomarker for hepatocellular carcinoma. Ma Y, et al. Am J Transl Res, 2023. PMID 37692934, Free PMC Article
    2. Assembly of a parts list of the human mitotic cell cycle machinery. Giotti B, et al. J Mol Cell Biol, 2019 Aug 19. PMID 30452682, Free PMC Article
    3. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
    4. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33382

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    lung adenoma susceptibility protein 2

    NCBI Reference Sequences (RefSeq)

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    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_001288980.2 → NP_001275909.1  lung adenoma susceptibility protein 2 isoform a

      See identical proteins and their annotated locations for NP_001275909.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AB353076, AC087395, AC093462, CN359540
      Consensus CDS
      CCDS74223.1
      UniProtKB/Swiss-Prot
      Q8IYD9
      Related
      ENSP00000477654.1, ENST00000620105.5
      Conserved Domains (1) summary
      pfam15792
      Location:161 → 235
      LAS2; Lung adenoma susceptibility protein 2

    2. NM_001288981.2 → NP_001275910.1  lung adenoma susceptibility protein 2 isoform a

      See identical proteins and their annotated locations for NP_001275910.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB267906, AB353077, AC087395, AC093462, AK126503
      Consensus CDS
      CCDS74223.1
      UniProtKB/Swiss-Prot
      Q8IYD9
      Conserved Domains (1) summary
      pfam15792
      Location:161 → 235
      LAS2; Lung adenoma susceptibility protein 2

    3. NM_001288982.2 → NP_001275911.1  lung adenoma susceptibility protein 2 isoform c

      See identical proteins and their annotated locations for NP_001275911.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has a shorter 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AB267906, AB330144, AB353076, AC087395, AC093462, AK126503
      Consensus CDS
      CCDS92464.1
      UniProtKB/TrEMBL
      I7HAS0
      Related
      ENSP00000497001.1, ENST00000648616.1
      Conserved Domains (1) summary
      pfam15792
      Location:161 → 214
      LAS2; Lung adenoma susceptibility protein 2

    4. NM_001370309.1 → NP_001357238.1  lung adenoma susceptibility protein 2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AB267906, AB353076, AC087395, AC093462, AK126503
      Consensus CDS
      CCDS74223.1
      Related
      ENSP00000372368.4, ENST00000382911.8
      Conserved Domains (1) summary
      pfam15792
      Location:161 → 235
      LAS2; Lung adenoma susceptibility protein 2

    5. NM_173529.6 → NP_775800.3  lung adenoma susceptibility protein 2 isoform b precursor

      See identical proteins and their annotated locations for NP_775800.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has a shorter 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AB267906, AB330143, AB353076, AC087395, AC093462, AK126503
      Consensus CDS
      CCDS11956.1
      UniProtKB/Swiss-Prot
      I7HFJ6, Q6MZU3, Q6ZTL6, Q8IYD9
      UniProtKB/TrEMBL
      I7GY12
      Related
      ENSP00000300091.5, ENST00000300091.5
      Conserved Domains (1) summary
      pfam15792
      Location:161 → 233
      LAS2; Lung adenoma susceptibility protein 2

    RNA

    1. NR_110234.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC087395, CN359540

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      54357906..54382035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437310.1 → XP_047293266.1  lung adenoma susceptibility protein 2 isoform X2

    2. XM_017025567.3 → XP_016881056.1  lung adenoma susceptibility protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q8IYD9
      Conserved Domains (1) summary
      pfam15792
      Location:161 → 235
      LAS2; Lung adenoma susceptibility protein 2

    3. XM_024451093.2 → XP_024306861.1  lung adenoma susceptibility protein 2 isoform X3

      UniProtKB/Swiss-Prot
      I7HFJ6, Q6MZU3, Q6ZTL6, Q8IYD9
      UniProtKB/TrEMBL
      I7GY12
      Conserved Domains (1) summary
      pfam15792
      Location:161 → 233
      LAS2; Lung adenoma susceptibility protein 2

    RNA

    1. XR_001753148.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      54560986..54585121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318225.1 → XP_054174200.1  lung adenoma susceptibility protein 2 isoform X2

    2. XM_054318224.1 → XP_054174199.1  lung adenoma susceptibility protein 2 isoform X1

    3. XM_054318226.1 → XP_054174201.1  lung adenoma susceptibility protein 2 isoform X3

      UniProtKB/Swiss-Prot
      I7HFJ6, Q6MZU3, Q6ZTL6, Q8IYD9
      UniProtKB/TrEMBL
      I7GY12

    RNA

    1. XR_008484984.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYD9.1 GenPept UniProtKB/Swiss-Prot:Q8IYD9

    Gene LinkOut

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

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