Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	149951
Gene name	COMM domain containing 7
Gene symbol	COMMD7
Synonyms (NCBI Gene)	C20orf92dJ1085F17.3
Chromosome	20
Chromosome location	20q11.21

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025926	hsa-miR-7-5p	Microarray	19073608
MIRT903547	hsa-miR-1226	CLIP-seq
MIRT903548	hsa-miR-182	CLIP-seq
MIRT903549	hsa-miR-509-3p	CLIP-seq
MIRT903550	hsa-miR-634	CLIP-seq
MIRT903551	hsa-miR-2278	CLIP-seq
MIRT903552	hsa-miR-3616-5p	CLIP-seq
MIRT903553	hsa-miR-3647-5p	CLIP-seq
MIRT903554	hsa-miR-4274	CLIP-seq
MIRT903555	hsa-miR-4330	CLIP-seq
MIRT903556	hsa-miR-4704-3p	CLIP-seq
MIRT903557	hsa-miR-4795-5p	CLIP-seq
MIRT903558	hsa-miR-5095	CLIP-seq
MIRT903559	hsa-miR-515-3p	CLIP-seq
MIRT903560	hsa-miR-519e	CLIP-seq
MIRT903561	hsa-miR-573	CLIP-seq
MIRT1967899	hsa-miR-1273f	CLIP-seq
MIRT1967900	hsa-miR-143	CLIP-seq
MIRT1967901	hsa-miR-3140-5p	CLIP-seq
MIRT1967902	hsa-miR-3200-5p	CLIP-seq
MIRT1967903	hsa-miR-331-3p	CLIP-seq
MIRT1967904	hsa-miR-4251	CLIP-seq
MIRT1967905	hsa-miR-4329	CLIP-seq
MIRT1967906	hsa-miR-4708-5p	CLIP-seq
MIRT1967907	hsa-miR-4713-5p	CLIP-seq
MIRT1967908	hsa-miR-4770	CLIP-seq
MIRT2203778	hsa-miR-1184	CLIP-seq
MIRT2203779	hsa-miR-1205	CLIP-seq
MIRT2203780	hsa-miR-1253	CLIP-seq
MIRT2203781	hsa-miR-183	CLIP-seq
MIRT2203782	hsa-miR-2117	CLIP-seq
MIRT2203783	hsa-miR-3158-5p	CLIP-seq
MIRT2203784	hsa-miR-329	CLIP-seq
MIRT2203785	hsa-miR-362-3p	CLIP-seq
MIRT2203786	hsa-miR-3919	CLIP-seq
MIRT2203787	hsa-miR-3941	CLIP-seq
MIRT2203788	hsa-miR-4277	CLIP-seq
MIRT2203789	hsa-miR-4635	CLIP-seq
MIRT2203790	hsa-miR-466	CLIP-seq
MIRT2203791	hsa-miR-4672	CLIP-seq
MIRT2203792	hsa-miR-4699-3p	CLIP-seq
MIRT2203793	hsa-miR-4797-5p	CLIP-seq
MIRT2203794	hsa-miR-548aa	CLIP-seq
MIRT2203795	hsa-miR-603	CLIP-seq
MIRT2203796	hsa-miR-767-5p	CLIP-seq
MIRT2203782	hsa-miR-2117	CLIP-seq
MIRT2203788	hsa-miR-4277	CLIP-seq
MIRT2203793	hsa-miR-4797-5p	CLIP-seq
MIRT2203794	hsa-miR-548aa	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15799966, 21778237, 23563313, 25355947, 33961781, 35271311, 37172566
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	15799966
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IBA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	15799966
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15799966
GO:0051059	Function	NF-kappaB binding	IBA
GO:0051059	Function	NF-kappaB binding	IDA	15799966

MIM	HGNC	e!Ensembl
616703	16223	ENSG00000149600

Q86VX2

Protein name

COMM domain-containing protein 7

Protein function

Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate ac

PDB

8ESD , 8F2R , 8F2U , 8P0W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07258	COMM_domain	131 → 200	COMM domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest expression in lung. {ECO:0000269|PubMed:15799966}.

Sequence

MGRLHCTEDPVPEAVGGDMQQLNQLGAQQFSALTEVLFHFLTEPKEVERFLAQLSEFATT
NQISLGSLRSIVKSLLLVPNGALKKSLTAKQVQADFITLGLSEEKATYFSEKWKQNAPTL
ARWAIGQTLMINQLIDMEWKFGVTSGSSELEKVGSIFLQLKLVVKKGNQTENVYIELTLP
QFYSFLHEMERVRTSMECFC

Sequence length

200

Interactions

View interactions

	Reactome
			Neddylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC NODULAR GOITER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia Sickle Cell	Sickle cell anemia	Pubtator	23719301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27350032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34962102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27129158, 34493238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28441463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	34962102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33891561, 37057209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23049798, 27129158, 28142122, 30719501, 30883605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27350032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20833976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23049798, 27350032, 30719501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27350032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28922540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COMMD7 (COMM domain containing 7)