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    CMTM8 CKLF like MARVEL transmembrane domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 152189, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CMTM8provided by HGNC
    Official Full Name
    CKLF like MARVEL transmembrane domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:19179
    See related
    Ensembl:ENSG00000170293 MIM:607891; AllianceGenome:HGNC:19179
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CKLFSF8; CKLFSF8-V2
    Summary
    This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor, and plays a role in regulating the migration of tumor cells. The encoded protein is thought to function as a a negative regulator of epidermal growth factor-induced signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in liver (RPKM 5.0), lung (RPKM 5.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CMTM8 in Genome Data Viewer
    Location:
    3p22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32238192..32370321)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32233757..32367445)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32280172..32411813)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69802 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69804 Neighboring gene ribosomal protein SA pseudogene 11 Neighboring gene MPRA-validated peak4587 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:32268147-32269346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14167 Neighboring gene SMIM11 pseudogene 2 Neighboring gene keratin 18 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19633 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32400389-32401068 Neighboring gene uncharacterized LOC124909361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32442473-32443342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32443343-32444210 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:32448051-32448552 Neighboring gene CKLF like MARVEL transmembrane domain containing 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:32461132-32462331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32478107-32478788 Neighboring gene Sharpr-MPRA regulatory region 14110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32495222-32495722

    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. Down-regulation of CMTM8 induces epithelial-to-mesenchymal transition-like changes via c-MET/extracellular signal-regulated kinase (ERK) signaling. Zhang W, et al. J Biol Chem, 2012 Apr 6. PMID 22337876, Free PMC Article
    2. Downregulated CMTM8 Correlates with Poor Prognosis in Gastric Cancer Patients. Yan M, et al. DNA Cell Biol, 2021 Jun. PMID 33978454
    3. Influence of CMTM8 polymorphisms on lung cancer susceptibility in the Chinese Han population. Wu J, et al. Pharmacogenet Genomics, 2021 Jun 1. PMID 33395025
    4. CMTM8 Is a Suppressor of Human Mesenchymal Stem Cell Osteogenic Differentiation and Promoter of Proliferation Via EGFR Signaling. H'ng CH, et al. Stem Cells Dev, 2020 Jul 1. PMID 32268840
    5. CMTM8 induces caspase-dependent and -independent apoptosis through a mitochondria-mediated pathway. Jin C, et al. J Cell Physiol, 2007 Apr. PMID 17149703

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and validation of EMT-immune-related prognostic biomarkers CDKN2A, CMTM8 and ILK in colon cancer.
      Title: Identification and validation of EMT-immune-related prognostic biomarkers CDKN2A, CMTM8 and ILK in colon cancer.
    2. MicroRNA-582-5p promotes triple-negative breast cancer invasion and metastasis by antagonizing CMTM8.
      Title: MicroRNA-582-5p promotes triple-negative breast cancer invasion and metastasis by antagonizing CMTM8.
    3. Influence of CMTM8 polymorphisms on lung cancer susceptibility in the Chinese Han population.
      Title: Influence of CMTM8 polymorphisms on lung cancer susceptibility in the Chinese Han population.
    4. Downregulated CMTM8 Correlates with Poor Prognosis in Gastric Cancer Patients.
      Title: Downregulated CMTM8 Correlates with Poor Prognosis in Gastric Cancer Patients.
    5. CMTM8 Is a Suppressor of Human Mesenchymal Stem Cell Osteogenic Differentiation and Promoter of Proliferation Via EGFR Signaling.
      Title: CMTM8 Is a Suppressor of Human Mesenchymal Stem Cell Osteogenic Differentiation and Promoter of Proliferation Via EGFR Signaling.
    6. This is the first extensive study of CMTM8 expression in both normal and tumorous human tissues. Our findings strongly supported the potential role of CMTM8 as a novel tumor suppressor and may shape further functional studies on this gene
      Title: CMTM8 is Frequently Downregulated in Multiple Solid Tumors.
    7. our data suggested that CMTM8 is an important tumor suppressor gene in human bladder cancer and qualified as a useful prognostic indicator for patients with bladder cancer.
      Title: Functional characterization of the tumor suppressor CMTM8 and its association with prognosis in bladder cancer.
    8. overexpression of CMTM8 in bladder cancer results in reduced malignant cell growth, migration and invasion, which could make it a potential therapeutic target in the treatment of bladder cancer.
      Title: CMTM8 inhibits the carcinogenesis and progression of bladder cancer.
    9. This study identified CMTM8 as a new candidate tumor suppressor gene and GPR177 as a new candidate oncogene in osteosarcoma.
      Title: Focal chromosomal copy number aberrations identify CMTM8 and GPR177 as new candidate driver genes in osteosarcoma.
    10. Down-regulation of CMTM8 also promoted an epithelial mesenchymal transition-like change in MCF-10A cells, indicating a broader role for CMTM8 in regulating cellular transformation.
      Title: Down-regulation of CMTM8 induces epithelial-to-mesenchymal transition-like changes via c-MET/extracellular signal-regulated kinase (ERK) signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    EBI GWAS Catalog

    Description
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    EBI GWAS Catalog
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    CKLF-like MARVEL transmembrane domain-containing protein 8
    Names
    chemokine-like factor superfamily member 8

    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_001320308.2 → NP_001307237.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 2. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AY598783
      Consensus CDS
      CCDS82753.1
      UniProtKB/Swiss-Prot
      Q8IZV2
      Related
      ENSP00000412934.2, ENST00000458535.6

    2. NM_178868.5 → NP_849199.2  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_849199.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF474370, AY598783
      Consensus CDS
      CCDS2652.1
      UniProtKB/Swiss-Prot
      A5D6I7, Q8IW01, Q8IZV2
      Related
      ENSP00000307741.3, ENST00000307526.4
      Conserved Domains (1) summary
      pfam01284
      Location:36 → 162
      MARVEL; Membrane-associating domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      32238192..32370321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533416.4 → XP_011531718.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X1

      Conserved Domains (1) summary
      pfam01284
      Location:72 → 185
      MARVEL; Membrane-associating domain

    2. XM_017005779.2 → XP_016861268.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X3

    3. XM_047447513.1 → XP_047303469.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      32233757..32367445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345383.1 → XP_054201358.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X1

    2. XM_054345387.1 → XP_054201362.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X4

    3. XM_054345384.1 → XP_054201359.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X1

    4. XM_054345386.1 → XP_054201361.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X3

    5. XM_054345385.1 → XP_054201360.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZV2.2 GenPept UniProtKB/Swiss-Prot:Q8IZV2

    Gene LinkOut

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