CMTM3 CKLF like MARVEL transmembrane domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CMTM3provided by HGNC
Official Full Name: CKLF like MARVEL transmembrane domain containing 3provided by HGNC
Primary source: HGNC:HGNC:19174
See related: Ensembl:ENSG00000140931 MIM:607886; AllianceGenome:HGNC:19174
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: BNAS2; CKLFSF3
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 of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 24.7), placenta (RPKM 16.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (66603996..66613892)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72397883..72408187)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (66637899..66647795)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Familial hypereosinophilia associated with eosinophilic gastrointestinal symptoms in individuals with a missense mutation in CKLF-like MARVEL transmembrane domain containing 3.
Title: Familial hypereosinophilia associated with eosinophilic gastrointestinal symptoms in individuals with a missense mutation in CKLF-like MARVEL transmembrane domain containing 3.
CMTM3 exhibited a lower expression pattern in gastric cancer tissues.MiR-135b-5p promotes gastric cancer progression by targeting CMTM3.
Title: miR-135b-5p promotes gastric cancer progression by targeting CMTM3.
this study demonstrates that knockdown of CMTM3 promotes the metastasis of gastric cancer through the STAT3/Twist1/EMT pathway
Title: Knockdown of CMTM3 promotes metastasis of gastric cancer via the STAT3/Twist1/EMT signaling pathway.
CMTM3 was significantly hypermethylated in colorectal cancer tissues when compared with adjacent normal colorectal tissues.
Title: DNA methylation of CMTM3, SSTR2, and MDFI genes in colorectal cancer.
CMTM3 decreases EGFR expression, facilitates EGFR degradation, and inhibits the EGF-mediated tumorigenicity of gastric cancer cells by enhancing Rab5 activity.
Title: CMTM3 decreases EGFR expression and EGF-mediated tumorigenicity by promoting Rab5 activity in gastric cancer.
CMTM3 mediates cell-cell adhesion at adherens junctions and contributes to the control of vascular sprouting by regulation VE-cadherin turnover.
Title: CMTM3 (CKLF-Like Marvel Transmembrane Domain 3) Mediates Angiogenesis by Regulating Cell Surface Availability of VE-Cadherin in Endothelial Adherens Junctions.
Overexpression of CMTM3 attenuated the tumor growth of hepatocellular carcinoma.
Title: CKLF-Like MARVEL Transmembrane Domain-Containing Member 3 (CMTM3) Inhibits the Proliferation and Tumorigenisis in Hepatocellular Carcinoma Cells.
identified CMTM3 as a novel secretory protein released via exosomes in the prostate
Title: CMTM3 presents a secreted form released via exosomes.
study indicates that elevated CMTM3 methylation is a risk factor in male LSCC patients, especially in the patients with age over 55years and with smoking behavior
Title: Elevated methylation of CMTM3 promoter in the male laryngeal squamous cell carcinoma patients.
Reduced expression of CMTM3 is associated with prostate cancer.
Title: CMTM3 is reduced in prostate cancer and inhibits migration, invasion and growth of LNCaP cells.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-60820 (e-PCR)
- UniSTS:2098

D16S3311 (e-PCR)
- UniSTS:77647

D16S2901 (e-PCR)
- UniSTS:153471

G19828 (e-PCR)
- UniSTS:17366

A001Z40 (e-PCR)
- UniSTS:17367

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

Process	Evidence Code	Pubs
involved_in blastocyst hatching	IEA Inferred from Electronic Annotation more info
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
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 nuclear membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: CKLF-like MARVEL transmembrane domain-containing protein 3

Names: chemokine-like factor superfamily member 3

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)

NM_001363918.2 → NP_001350847.1 CKLF-like MARVEL transmembrane domain-containing protein 3

Status: REVIEWED

Source sequence(s)

AC018557

Consensus CDS

CCDS10815.1

UniProtKB/Swiss-Prot

A6NCL9, Q8IUU8, Q8IWQ6, Q8IYE2, Q8IZ39, Q8IZ59, Q96MX0

Conserved Domains (1) summary

pfam01284
Location:36 → 149

MARVEL; Membrane-associating domain
NM_001363923.2 → NP_001350852.1 CKLF-like MARVEL transmembrane domain-containing protein 3

Status: REVIEWED

Source sequence(s)

AC018557, AF479813, AK056324

Consensus CDS

CCDS10815.1

UniProtKB/Swiss-Prot

A6NCL9, Q8IUU8, Q8IWQ6, Q8IYE2, Q8IZ39, Q8IZ59, Q96MX0

Related

ENSP00000400482.2, ENST00000424011.6

Conserved Domains (1) summary

pfam01284
Location:36 → 149

MARVEL; Membrane-associating domain
NM_144601.5 → NP_653202.1 CKLF-like MARVEL transmembrane domain-containing protein 3

See identical proteins and their annotated locations for NP_653202.1

Status: REVIEWED

Source sequence(s)

AC018557, AF479813

Consensus CDS

CCDS10815.1

UniProtKB/Swiss-Prot

A6NCL9, Q8IUU8, Q8IWQ6, Q8IYE2, Q8IZ39, Q8IZ59, Q96MX0

Related

ENSP00000354579.4, ENST00000361909.8

Conserved Domains (1) summary

pfam01284
Location:36 → 149

MARVEL; Membrane-associating domain
NM_181553.4 → NP_853531.1 CKLF-like MARVEL transmembrane domain-containing protein 3

See identical proteins and their annotated locations for NP_853531.1

Status: REVIEWED

Source sequence(s)

AF479813, BC047701

Consensus CDS

CCDS10815.1

UniProtKB/Swiss-Prot

A6NCL9, Q8IUU8, Q8IWQ6, Q8IYE2, Q8IZ39, Q8IZ59, Q96MX0

Related

ENSP00000455851.1, ENST00000567572.6

Conserved Domains (1) summary

pfam01284
Location:36 → 149

MARVEL; Membrane-associating domain

RNA

NR_037619.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC018557, AF479813, CT001840

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

66603996..66613892

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047433594.1 → XP_047289550.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A6NCL9, Q8IUU8, Q8IWQ6, Q8IYE2, Q8IZ39, Q8IZ59, Q96MX0

Related

ENSP00000455758.1, ENST00000562707.5
XM_047433597.1 → XP_047289553.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X3

UniProtKB/TrEMBL

H3BUD5

Related

ENSP00000457589.1, ENST00000564060.5
XM_047433595.1 → XP_047289551.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X2

UniProtKB/TrEMBL

J3KSR6

Related

ENSP00000462613.1, ENST00000566756.5
XM_047433598.1 → XP_047289554.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

72397883..72408187

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379558.1 → XP_054235533.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X5
XM_054379557.1 → XP_054235532.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A6NCL9, Q8IUU8, Q8IWQ6, Q8IYE2, Q8IZ39, Q8IZ59, Q96MX0
XM_054379559.1 → XP_054235534.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X3

UniProtKB/TrEMBL

H3BUD5
XM_054379560.1 → XP_054235535.1 CKLF-like MARVEL transmembrane domain-containing protein 3 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001048251.1: Suppressed sequence

Description

NM_001048251.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
NM_181554.1: Suppressed sequence

Description

NM_181554.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_181555.1: Suppressed sequence

Description

NM_181555.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript variant.