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

Gene ID: 162681, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in testis (RPKM 6.1), placenta (RPKM 1.1) and 15 other tissues See more
Orthologs
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Genomic context

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Location:
18q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54357906..54382035)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (54560986..54585121)
105.20220307 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
  • 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. 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
  2. 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
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

See all (15) 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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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_2023_10

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

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