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

Gene ID: 152189, updated on 11-Apr-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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Location:
3p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32238192..32370321)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32233757..32367445)
105.20220307 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
  • 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. Downregulated CMTM8 Correlates with Poor Prognosis in Gastric Cancer Patients. Yan M, et al. DNA Cell Biol, 2021 Jun. PMID 33978454
  2. Influence of CMTM8 polymorphisms on lung cancer susceptibility in the Chinese Han population. Wu J, et al. Pharmacogenet Genomics, 2021 Jun 1. PMID 33395025
  3. 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
  4. Functional characterization of the tumor suppressor CMTM8 and its association with prognosis in bladder cancer. Zhang S, et al. Tumour Biol, 2016 May. PMID 26615421
  5. CMTM8 is Frequently Downregulated in Multiple Solid Tumors. Zhang W, et al. Appl Immunohistochem Mol Morphol, 2017 Feb. PMID 26574634

See all (30) 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 membrane IEA
Inferred from Electronic Annotation
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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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_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_2023_10

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

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