CMTM7 CKLF like MARVEL transmembrane domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CMTM7provided by HGNC
Official Full Name: CKLF like MARVEL transmembrane domain containing 7provided by HGNC
Primary source: HGNC:HGNC:19178
See related: Ensembl:ENSG00000153551 MIM:607890; AllianceGenome:HGNC:19178
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: CKLFSF7
Summary: This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and 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 that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Expression: Broad expression in lymph node (RPKM 7.5), spleen (RPKM 7.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (32391853..32455528)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (32388830..32452466)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (32433345..32497020)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CMTM7 inhibits breast cancer progression by regulating Wnt/beta-catenin signaling.
Title: CMTM7 inhibits breast cancer progression by regulating Wnt/β-catenin signaling.
CMTM7 as a novel molecule of ATG14L-Beclin1-VPS34 complex enhances autophagy by Rab5 to regulate tumorigenicity.
Title: CMTM7 as a novel molecule of ATG14L-Beclin1-VPS34 complex enhances autophagy by Rab5 to regulate tumorigenicity.
Breast cancer cell-derived extracellular vesicles transfer miR-182-5p and promote breast carcinogenesis via the CMTM7/EGFR/AKT axis.
Title: Breast cancer cell-derived extracellular vesicles transfer miR-182-5p and promote breast carcinogenesis via the CMTM7/EGFR/AKT axis.
CMTM5/7 are biomarkers and prognostic factors in human breast carcinoma.
Title: CMTM5/7 are biomarkers and prognostic factors in human breast carcinoma.
Interaction of the CMTM7 rs347134 Polymorphism with Dietary Patterns and the Risk of Obesity in Han Chinese Male Children.
Title: Interaction of the CMTM7 rs347134 Polymorphism with Dietary Patterns and the Risk of Obesity in Han Chinese Male Children.
CMTM7 functions as a tumor suppressor in liver cancer through suppression of cell cycle progression.
Title: Overexpression of CMTM7 inhibits cell growth and migration in liver cancer.
SOX10 can regulate the proliferation and tumor formation of gastric cancer by regulating the expression of CMTM7.
Title: SOX10-dependent CMTM7 expression inhibits cell proliferation and tumor growth in gastric carcinoma.
Findings indicate the role of CMTM7 protein in the regulation of epidermal growth factor receptor (EGFR)-AKT proto-oncogene protein signaling in tumor cells, and as a molecule related to Rab5 GTP-binding protein activation.
Title: CMTM7 knockdown increases tumorigenicity of human non-small cell lung cancer cells and EGFR-AKT signaling by reducing Rab5 activation.
Loss of CMTM7 by promoter CpG methylation is associated with neoplasms.
Title: A novel 3p22.3 gene CMTM7 represses oncogenic EGFR signaling and inhibits cancer cell growth.
The CMTM7 expression may be related to survival of patients with non-smallcell lung cancer and a unique prognostic factor. CMTM7 may play an important role in NSCLC development.
Title: Change of CMTM7 expression, a potential tumor suppressor, is associated with poor clinical outcome in human non-small cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

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-173738 (e-PCR)
- UniSTS:185426

STS-R72760 (e-PCR)
- UniSTS:71255

SHGC-76805 (e-PCR)
- UniSTS:77414

WI-17396 (e-PCR)
- UniSTS:54639

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 B-1a B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: CKLF-like MARVEL transmembrane domain-containing protein 7

Names: chemokine-like factor super family 7; chemokine-like factor superfamily 7; chemokine-like factor superfamily member 7

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_138410.4 → NP_612419.1 CKLF-like MARVEL transmembrane domain-containing protein 7 isoform a

See identical proteins and their annotated locations for NP_612419.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC098475, AF479263, CD366110

Consensus CDS

CCDS33730.1

UniProtKB/Swiss-Prot

Q5VLK1, Q96FZ5

Related

ENSP00000335605.5, ENST00000334983.10

Conserved Domains (1) summary

pfam01284
Location:40 → 160

MARVEL; Membrane-associating domain
NM_181472.3 → NP_852137.1 CKLF-like MARVEL transmembrane domain-containing protein 7 isoform b

See identical proteins and their annotated locations for NP_852137.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AF479263, AK308878

Consensus CDS

CCDS33731.1

UniProtKB/Swiss-Prot

Q96FZ5

Related

ENSP00000283621.5, ENST00000349718.8

Conserved Domains (1) summary

pfam01284
Location:40 → 122

MARVEL; Membrane-associating domain