CMTM3

CKLF-like MARVEL transmembrane domain-containing protein 3

Gene Information Card

Symbol CMTM3
Full Name CKLF-like MARVEL transmembrane domain-containing protein 3
Gene Type protein-coding
Chromosomal Location 16q21
NCBI Gene ID 123920 ncbi.nlm.nih.gov/gene/123920
Ensembl ID ENSG00000140931
UniProt ID Q96L33
OMIM ID 607889
HGNC ID 19172
Aliases CKLFSF3, MARVELD3

Description

CMTM3 (CKLF-like MARVEL transmembrane domain-containing protein 3) is a member of the CMTM gene family, which encodes proteins with a MARVEL (MAL and related proteins for vesicle trafficking and membrane link) domain. CMTM3 is involved in chemokine-like signaling, immune modulation, and tumor suppression. It is located on chromosome 16q21 and is expressed in various tissues, with roles in cell migration, proliferation, and apoptosis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hepatocellular carcinoma Downregulation of CMTM3 promotes tumor growth and metastasis via activation of AKT signaling PMID: 25944712
Gastric cancer CMTM3 acts as a tumor suppressor; reduced expression correlates with poor prognosis PMID: 24743142
Prostate cancer CMTM3 inhibits cell proliferation and invasion through regulation of EMT markers PMID: 27323861

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Lung 8.3 Medium
Kidney 7.1 Medium
Liver 4.2 Low
Brain 2.8 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 5.6 Hepatocellular carcinoma cell line
A549 4.3 Lung adenocarcinoma cell line
PC3 3.9 Prostate cancer cell line
MCF7 2.1 Breast cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.256C>T (p.Arg86Trp) Missense <0.01% Unknown functional impact
c.421G>A (p.Gly141Ser) Missense <0.01% Reported in COSMIC database
Mutation functional classification

Loss of Function (LOF)

Reduced expression or loss of CMTM3 is associated with tumor progression in multiple cancers.

Gain of Function (GOF)

No documented gain-of-function mutations.

Dominant Negative (DN)

No evidence of dominant-negative effects.

Pathways

• PI3K-Akt signaling pathway
• Apoptosis
• Cell cycle

Protein Summary

CMTM3 encodes a 182-amino acid protein with a MARVEL domain, predicted to localize to the plasma membrane and vesicles. It is involved in chemokine-like activity, regulating cell migration and immune responses. The protein is downregulated in several cancers, suggesting a tumor suppressor role.

Related Products

Product name Cat.No. Species Gene ID
CMTM3 Knockout HEK293 Cell Line EDJ-KQ463 Human 123920 Details Get a Quote
CMTM3 Knockout A-549 Cell Line EDJ-KQ20104 Human 123920 Details Get a Quote
CMTM3 Knockout HCT 116 Cell Line EDJ-KQ20105 Human 123920 Details Get a Quote
CMTM3 Knockout HeLa Cell Line EDJ-KQ20106 Human 123920 Details Get a Quote
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