Aliases for CMTM6 Gene
Aliases for CMTM6 Gene
- CKLF Like MARVEL Transmembrane Domain Containing 6 2 3 5
- Chemokine-Like Factor Superfamily Member 6 3 4
- Chemokine-Like Factor Super Family 6 2 3
- Chemokine-Like Factor Superfamily 6 2 3
- CKLFSF6 3 4
- CKLF-Like MARVEL Transmembrane Domain-Containing Protein 6 3
- CKLF-Like MARVEL Transmembrane Domain Containing 6 2
- PRO2219 3
External Ids for CMTM6 Gene
- HGNC: 19177
- Entrez Gene: 54918
- Ensembl: ENSG00000091317
- OMIM: 607889
- UniProtKB: Q9NX76
Previous HGNC Symbols for CMTM6 Gene
- CKLFSF6
Summaries for CMTM6 Gene
-
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 is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]
GeneCards Summary for CMTM6 Gene
CMTM6 (CKLF Like MARVEL Transmembrane Domain Containing 6) is a Protein Coding gene. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include cytokine activity. An important paralog of this gene is CMTM4.
UniProtKB/Swiss-Prot for CMTM6 Gene
-
Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately triggering T-cell anergy.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMTM6 Gene
Genomics for CMTM6 Gene
GeneHancer (GH) Regulatory Elements for CMTM6 Gene
Promoters and enhancers for CMTM6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CMTM6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CMTM6 gene promoter:
-
- FOXL1
- CP2
- C/EBPalpha
- RelA
- NF-kappaB1
- NF-kappaB
- SRF (504 AA)
- SRF
- RORalpha1
Regulatory Element Products
Genomic Locations for CMTM6 Gene
Genomic Locations for CMTM6 Gene
- chr3:32,481,312-32,503,408
- (GRCh38/hg38)
- Size:
- 22,097 bases
- Orientation:
- Minus strand
- chr3:32,522,804-32,544,900
- (GRCh37/hg19)
- Size:
- 22,097 bases
- Orientation:
- Minus strand
Genomic View for CMTM6 Gene
Genes around CMTM6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p22.3 by Entrez Gene
- 3p22.3 by HGNC
- 3p22.3 by Ensembl
CMTM6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CMTM6 Gene
Proteins for CMTM6 Gene
-
Protein details for CMTM6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NX76-CKLF6_HUMAN
- Recommended name:
- CKLF-like MARVEL transmembrane domain-containing protein 6
- Protein Accession:
- Q9NX76
- Q6IAC4
Protein attributes for CMTM6 Gene
- Size:
- 183 amino acids
- Molecular mass:
- 20419 Da
- Quaternary structure:
-
- Interacts with PD-L1/CD274 (via transmembrane domain); the interaction is direct (PubMed:28813417, PubMed:28813410). Interacts with CMTM4 (PubMed:28813410). Interacts with CD58, ARG1, ENO1 and TMPO (PubMed:28813417).
Protein Expression for CMTM6 Gene
Post-translational modifications for CMTM6 Gene
Other Protein References for CMTM6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CMTM6
-
Abcam antibodies for CMTM6
- Invitrogen Antibodies for CMTM6 (AFLGC-CMTM6)
- GeneTex CMTM6 Antibody for CMTM6
Protein Products
-
OriGene Purified Proteins for CMTM6
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- antibodies-online: Search results for 5 available CMTM6 Proteins ranked by validation data
- Compare Top CMTM6 Proteins
-
Quality Products:
- Search GeneTex for Proteins for CMTM6
No data available for DME Specific Peptides for CMTM6 Gene
Domains & Families for CMTM6 Gene
Gene Families for CMTM6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for CMTM6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NX76- Family:
-
- Belongs to the chemokine-like factor family.
Function for CMTM6 Gene
Molecular function for CMTM6 Gene
- UniProtKB/Swiss-Prot Function:
- Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately triggering T-cell anergy.
Phenotypes From GWAS Catalog for CMTM6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005125 | cytokine activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 28813410 |
Phenotypes for CMTM6 Gene
Animal Model Products
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-
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-
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-
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miRNA for CMTM6 Gene
- miRTarBase miRNAs that target CMTM6
-
- hsa-mir-378a-3p (MIRT019660)
- hsa-mir-128-3p (MIRT021869)
- hsa-mir-215-5p (MIRT024261)
- hsa-mir-192-5p (MIRT026194)
- hsa-mir-26b-5p (MIRT029005)
- hsa-mir-92a-3p (MIRT049092)
- hsa-mir-2681-5p (MIRT448135)
- hsa-mir-489-3p (MIRT448137)
- hsa-mir-3913-3p (MIRT448138)
- hsa-mir-378a-5p (MIRT532735)
- hsa-mir-6831-3p (MIRT532736)
- hsa-mir-215-3p (MIRT532737)
- hsa-mir-6773-3p (MIRT532738)
- hsa-mir-629-3p (MIRT532739)
- hsa-mir-4279 (MIRT532740)
- hsa-mir-6749-3p (MIRT532741)
- hsa-mir-1260b (MIRT532742)
- hsa-mir-1260a (MIRT532743)
- hsa-mir-532-3p (MIRT532744)
- hsa-mir-136-5p (MIRT532745)
- hsa-mir-660-3p (MIRT532746)
- hsa-mir-5193 (MIRT532747)
- hsa-mir-1224-3p (MIRT532748)
- hsa-mir-8063 (MIRT532749)
- hsa-mir-4477b (MIRT574299)
- hsa-mir-101-3p (MIRT574300)
- hsa-mir-4490 (MIRT574301)
- hsa-mir-3148 (MIRT574302)
- hsa-mir-545-5p (MIRT574303)
- hsa-mir-144-3p (MIRT574304)
- hsa-mir-1277-5p (MIRT574305)
- hsa-mir-651-3p (MIRT574306)
- hsa-mir-548z (MIRT574307)
- hsa-mir-548h-3p (MIRT574308)
- hsa-mir-548d-3p (MIRT574309)
- hsa-mir-548bb-3p (MIRT574310)
- hsa-mir-548ac (MIRT574311)
- hsa-mir-134-5p (MIRT790109)
- hsa-mir-16-2-3p (MIRT790129)
- hsa-mir-195-3p (MIRT790150)
- hsa-mir-3118 (MIRT790226)
- hsa-mir-3136-5p (MIRT790235)
- hsa-mir-3161 (MIRT790247)
- hsa-mir-338-5p (MIRT790292)
- hsa-mir-4439 (MIRT790449)
- hsa-mir-4513 (MIRT790508)
- hsa-mir-599 (MIRT790803)
- hsa-mir-642a-3p (MIRT790842)
- hsa-mir-642b-3p (MIRT790843)
- hsa-mir-6730-3p (MIRT790898)
- hsa-mir-6855-3p (MIRT791033)
- hsa-mir-6857-3p (MIRT791038)
- hsa-mir-888-3p (MIRT791147)
miRNA Products
Inhibitory RNA Products
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Clone Products
- GenScript: Custom all cDNA clones Services for CMTM6
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- Applied Biological Materials Clones for CMTM6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CMTM6
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CMTM6 Gene
Localization for CMTM6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CMTM6 Gene
- Cell membrane; Multi-pass membrane protein. Early endosome membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Note=Co-localizes with PD-L1/CD274 in the plasma membrane and in recycling endosomes. {ECO:0000269 PubMed:28813417}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| lysosome | 4 |
| cytoskeleton | 2 |
| cytosol | 2 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
| GO:0016021 | integral component of membrane | IBA | -- |
| GO:0035577 | azurophil granule membrane | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CMTM6 Gene
Pathways & Interactions for CMTM6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
Pathways by source for CMTM6 Gene
3 Reactome pathways for CMTM6 Gene
Interacting Proteins for CMTM6 Gene
Selected Interacting proteins:
Q9NX76-CKLF6_HUMAN
ENSP00000205636
for CMTM6 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CMTM6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006935 | chemotaxis | IEA | -- |
| GO:0010469 | regulation of signaling receptor activity | IEA | -- |
| GO:0043312 | neutrophil degranulation | TAS | -- |
No data available for SIGNOR curated interactions for CMTM6 Gene
Transcripts for CMTM6 Gene
mRNA/cDNA for CMTM6 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (542) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000205636 3863 bps (uc003cfa.2)
- ENST00000478886 803 bps (uc062huz.1)
- ENST00000495177 670 bps (uc062hva.1)
Unigene Clusters for CMTM6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CMTM6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CMTM6
- genomics-online: gRNA clones - Search results for 122 available CMTM6 gene related products
- Overview of 122 available CMTM6 gene related products
- Applied Biological Materials CRISPR for CMTM6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CMTM6
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miRNA Products
Inhibitory RNA Products
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Clone Products
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-
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Expression for CMTM6 Gene
mRNA differential expression in normal tissues according to GTEx for CMTM6 Gene
This gene is overexpressed in Whole Blood (x5.9).
This gene is overexpressed in Monocytes (26.7), Bone (9.2), and Peripheral blood mononuclear cells (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CMTM6 Gene
NURSA nuclear receptor signaling pathways regulating expression of CMTM6 Gene:
CMTM6SOURCE GeneReport for Unigene cluster for CMTM6 Gene:
Hs.380627mRNA Expression by UniProt/SwissProt for CMTM6 Gene:
Q9NX76-CKLF6_HUMAN
Tissue specificity:
Expressed in the leukocytes, placenta and testis.
Evidence on tissue expression from TISSUES for CMTM6 Gene
- Blood(4.4)
- Lung(2)
- Nervous system(2)
Primer Products
-
OriGene qPCR primer pairs for CMTM6
-
OriGene qPCR primer pairs and template standards for CMTM6
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CMTM6 Gene
Orthologs for CMTM6 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CMTM6 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CMTM6 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cmtm6 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cmtm6 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | CMTM6 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CMTM6 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CMTM6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CMTM6 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CMTM6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cmtm6 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cmtm6 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2454 34 |
|
OneToMany |
- Species where no ortholog for CMTM6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for CMTM6 Gene
- ENSEMBL:
- Gene Tree for CMTM6 (if available)
- TreeFam:
- Gene Tree for CMTM6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CMTM6: view image
Paralogs for CMTM6 Gene
(1) SIMAP similar genes for CMTM6 Gene using alignment to 1 proteins:
- CKLF6_HUMAN
Pseudogenes.org Pseudogenes for CMTM6 Gene
Variants for CMTM6 Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000017925 | -- | 32,484,287(-) | T/A | intron_variant | |
| rs1000047242 | -- | 32,501,115(-) | G/A | intron_variant | |
| rs1000234027 | -- | 32,481,160(-) | A/G | downstream_transcript_variant | |
| rs1000239822 | -- | 32,481,721(-) | C/T | 3_prime_UTR_variant | |
| rs1000286400 | -- | 32,481,409(-) | A/C | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3595776 | CNV | loss | 21293372 |
| nsv1003285 | CNV | gain | 25217958 |
| nsv834652 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.54;
29.91% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CMTM6 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CMTM6
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMTM6 Gene
Disorders for CMTM6 Gene
Additional Disease Information for CMTM6
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for CMTM6 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CMTM6 Gene
Publications for CMTM6 Gene
- Identification of CMTM6 and CMTM4 as PD-L1 protein regulators. (PMID: 28813410) Mezzadra R … Schumacher TNM (Nature 2017) 3 4 58
- CMTM6 maintains the expression of PD-L1 and regulates anti-tumour immunity. (PMID: 28813417) Burr ML … Dawson MA (Nature 2017) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Identification of eight genes encoding chemokine-like factor superfamily members 1-8 (CKLFSF1-8) by in silico cloning and experimental validation. (PMID: 12782130) Han W … Ma D (Genomics 2003) 3 4 58
Products for CMTM6 Gene
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Sources for CMTM6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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