COMMD7 COMM domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COMMD7provided by HGNC
Official Full Name: COMM domain containing 7provided by HGNC
Primary source: HGNC:HGNC:16223
See related: Ensembl:ENSG00000149600 MIM:616703; AllianceGenome:HGNC:16223
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C20orf92; dJ1085F17.3
Summary: Enables NF-kappaB binding activity. Involved in negative regulation of DNA-templated transcription; negative regulation of NF-kappaB transcription factor activity; and tumor necrosis factor-mediated signaling pathway. Predicted to be located in cytoplasmic vesicle and membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 17.9), placenta (RPKM 13.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (32702699..32743467, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (34431363..34470209, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (31290501..31331273, complement)

Chromosome 20 - NC_000020.11 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 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?

Linc00852 from cisplatin-resistant gastric cancer cell-derived exosomes regulates COMMD7 to promote cisplatin resistance of recipient cells through microRNA-514a-5p.
Title: Linc00852 from cisplatin-resistant gastric cancer cell-derived exosomes regulates COMMD7 to promote cisplatin resistance of recipient cells through microRNA-514a-5p.
ZNF460-regulated COMMD7 Promotes Acute Myeloid Leukemia Proliferation Via the NF-kappaB Signaling Pathway.
Title: ZNF460-regulated COMMD7 Promotes Acute Myeloid Leukemia Proliferation Via the NF-κB Signaling Pathway.
High expression of COMMD7 is an adverse prognostic factor in acute myeloid leukemia.
Title: High expression of COMMD7 is an adverse prognostic factor in acute myeloid leukemia.
COMMD7 activates CXCL10 production by regulating NFkappaB and the production of ROS. The present study highlighted the role of COMMD7 in the development of HCC, and provides novel options for anticancer drug design.
Title: COMMD7 activates CXCL10 production by regulating NF-κB and the production of reactive oxygen species.
COMMD7 up-regulation is correlated with a novel NF-kappaB positive feedback loop in hepatocellular carcinoma, regulation cell proliferation, cell migration and apoptosis.
Title: COMMD7 is correlated with a novel NF-κB positive feedback loop in hepatocellular carcinoma.
High COMMD7 expression was specifically detected in pancreatic ductal adenocarcinoma tissues and pancreatic ductal adenocarcinoma cell lines. In addition, COMMD7 overexpression positively correlated with histological differentiation and tumor node metastasis (TNM) stage.
Title: COMMD7 functions as molecular target in pancreatic ductal adenocarcinoma.
The present data suggests a potential role of CXCL10 in the oncogenic function of COMMD7.
Title: COMMD7 promotes hepatocellular carcinoma through regulating CXCL10.
COMMD7's binding to NEMO does not interfere with the binding to the IKKs, and that the disruption of the IKK complex through the use of the NBP competitor impairs the termination of NF-kappaB activity
Title: COMMD7 as a novel NEMO interacting protein involved in the termination of NF-κB signaling.
COMMD7 contributes to hepatocellular carcinoma progression by reducing cell apoptosis and overcoming cell cycle arrest.
Title: ShRNA-targeted COMMD7 suppresses hepatocellular carcinoma growth.
BC047440 can promote the growth and invasion of hepatocellular carcinoma.
Title: Expression of BC047440 protein in hepatocellular carcinoma and its relationship to prognosis.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

D20S1117 (e-PCR)
- UniSTS:34320

RH25024 (e-PCR)
- UniSTS:84929

WI-20368 (e-PCR)
- UniSTS:55760

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NF-kappaB binding	IBA Inferred from Biological aspect of Ancestor more info
enables NF-kappaB binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: COMM domain-containing protein 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_001099339.2 → NP_001092809.1 COMM domain-containing protein 7 isoform 2

See identical proteins and their annotated locations for NP_001092809.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

AK027893, BQ006261, DN993528

Consensus CDS

CCDS46587.1

UniProtKB/TrEMBL

A0A2R8Y620

Related

ENSP00000395339.1, ENST00000446419.6

Conserved Domains (1) summary

cd04755
Location:19 → 197

Commd7; COMM_Domain containing protein 7. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
NM_053041.3 → NP_444269.2 COMM domain-containing protein 7 isoform 1

See identical proteins and their annotated locations for NP_444269.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK027893, BG715846, BQ006261

Consensus CDS

CCDS42864.1

UniProtKB/Swiss-Prot

A2BHJ2, B3KTZ2, Q5JYB0, Q86VX2, Q96SI7, Q9BW53

UniProtKB/TrEMBL

A0A2R8Y620

Related

ENSP00000278980.6, ENST00000278980.11

Conserved Domains (1) summary

cd04755
Location:19 → 198

Commd7; COMM_Domain containing protein 7. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

32702699..32743467 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047439932.1 → XP_047295888.1 COMM domain-containing protein 7 isoform X6
XM_017027685.3 → XP_016883174.1 COMM domain-containing protein 7 isoform X4

UniProtKB/TrEMBL

A0A2R8Y620
XM_017027686.3 → XP_016883175.1 COMM domain-containing protein 7 isoform X5
XM_011528604.4 → XP_011526906.1 COMM domain-containing protein 7 isoform X3

UniProtKB/TrEMBL

A0A2R8Y620

Conserved Domains (1) summary

cd04755
Location:19 → 175

Commd7; COMM_Domain containing protein 7. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
XM_005260300.5 → XP_005260357.1 COMM domain-containing protein 7 isoform X2

Conserved Domains (1) summary

cd04755
Location:19 → 174

Commd7; COMM_Domain containing protein 7. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
XM_005260299.5 → XP_005260356.1 COMM domain-containing protein 7 isoform X1

Conserved Domains (1) summary

cd04755
Location:19 → 175

Commd7; COMM_Domain containing protein 7. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...