Send feedback

COMMD10

gene
On this page

Also known as PTD002

Summary

COMMD10 (COMM domain containing 10, HGNC:30201) is a protein-coding gene on chromosome 5q23.1, encoding COMM domain-containing protein 10 (Q9Y6G5). 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.

Predicted to be involved in endocytic recycling. Located in nucleoplasm. Part of protein-containing complex.

Source: NCBI Gene 51397 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 49 total
  • GTEx eGene: eQTL in 47 tissues, sQTL in 22 (q < 0.05)
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.81 (unconstrained)
  • MANE Select transcript: NM_016144

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30201
Approved symbolCOMMD10
NameCOMM domain containing 10
Location5q23.1
Locus typegene with protein product
StatusApproved
AliasesPTD002
Ensembl geneENSG00000145781
Ensembl biotypeprotein_coding
OMIM616704
Entrez51397

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 17 nonsense_mediated_decay, 14 protein_coding, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000274458

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 3: 2, TSL 4: 1, TSL 5: 2

ENST00000274458, ENST00000503424, ENST00000506589, ENST00000507356, ENST00000508250, ENST00000515539, ENST00000632434, ENST00000908482, ENST00000978975, ENST00000978976, ENST00000978977, ENST00000978978, ENST00000978979, ENST00001029419, ENST00001029420, ENST00001029421, ENST00001059085, ENST00001059087, ENST00001099345, ENST00001099346, ENST00001099347, ENST00001109390, ENST00001109391, ENST00001119338, ENST00001119339, ENST00001119340, ENST00001119341, ENST00001119342, ENST00001119343, ENST00001127439, ENST00001127440, ENST00001127441, ENST00001136593

RefSeq mRNA: 2 — MANE Select: NM_016144 NM_001308080, NM_016144

CCDS: CCDS34215, CCDS78049

Canonical transcript exons

ENST00000274458 — 7 exons

ExonStartEnd
ENSE00000972237116091079116091189
ENSE00001005662116092545116092700
ENSE00001274247116292451116293287
ENSE00002029861116085025116085093
ENSE00003470480116087497116087587
ENSE00003537569116291517116291576
ENSE00003543802116134068116134178

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 98.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.0947 / max 224.4737, expressed in 1801 samples.

Highest expression (Bgee): oocyte, secondary oocyte, adrenal tissue, monocyte, mononuclear cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

COMMD10 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 47 tissues and its splicing (sQTL) in 22 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 69 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Muscle Skeletaleqtl1.2e-57+0.695:116298321:T:C
Brain Spinal cord cervical c-1eqtl5.3e-20+0.665:116187584:C:A
Heart Atrial Appendageeqtl8.0e-19+0.465:116304165:G:A
Cells EBV-transformed lymphocyteseqtl1.5e-18+0.705:116298321:T:C
Adipose Subcutaneouseqtl2.8e-15+0.345:116291873:A:G
Cells Cultured fibroblastseqtl7.7e-15+0.245:116306400:C:G
Brain Cerebellar Hemisphereeqtl9.4e-15-0.425:116235454:G:C
Brain Cerebellumeqtl2.5e-13-0.505:116218524:T:C
Breast Mammary Tissueeqtl4.6e-11+0.295:116298321:T:C
Brain Hypothalamuseqtl7.3e-11+0.475:116088173:G:A
Testissqtl2.4e-10+0.715:116317237:C:G
Brain Frontal Cortex BA9eqtl2.4e-10+0.385:116258211:G:A
Esophagus Musculariseqtl3.2e-10+0.225:116306816:T:C
Heart Left Ventricleeqtl7.9e-10+0.315:116298321:T:C
Thyroidsqtl1.4e-09+0.545:116108736:A:AAAAC
Skin Sun Exposed Lower legeqtl1.5e-09-0.745:116112547:C:A
Brain Substantia nigraeqtl2.0e-09+0.505:116206253:A:G
Lungsqtl5.4e-09+1.565:116412768:C:G
Thyroideqtl7.8e-09+0.205:116253780:C:T
Brain Hippocampuseqtl1.8e-08+0.415:116272528:T:A

FANTOM5 promoters

3 alternative TSS:

Promoter IDTPM avgSamples expressed
5807521.43471801
2036640.6448426
580770.01521

Top tissues by expression

showing 100 of 290 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
oocyteCL:000002398.80gold quality
secondary oocyteCL:000065598.38gold quality
adrenal tissueUBERON:001830393.66gold quality
monocyteCL:000057692.92gold quality
mononuclear cellCL:000084292.87gold quality
leukocyteCL:000073892.57gold quality
buccal mucosa cellCL:000233692.21silver quality
ventricular zoneUBERON:000305392.05gold quality
rectumUBERON:000105291.08gold quality
parotid glandUBERON:000183191.01gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099190.86gold quality
islet of LangerhansUBERON:000000690.85gold quality
right adrenal gland cortexUBERON:003582790.76gold quality
gall bladderUBERON:000211090.49gold quality
ganglionic eminenceUBERON:000402390.35gold quality
heart left ventricleUBERON:000208490.07gold quality
right adrenal glandUBERON:000123390.04gold quality
right atrium auricular regionUBERON:000663190.03gold quality
cardiac ventricleUBERON:000208289.89gold quality
left adrenal glandUBERON:000123489.86gold quality
heartUBERON:000094889.64gold quality
left adrenal gland cortexUBERON:003582589.64gold quality
adrenal glandUBERON:000236989.62gold quality
cardiac atriumUBERON:000208189.56gold quality
pigmented layer of retinaUBERON:000178289.48gold quality
calcaneal tendonUBERON:000370189.40gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047389.33gold quality
bone marrow cellCL:000209289.30gold quality
left lobe of thyroid glandUBERON:000112089.19gold quality
embryoUBERON:000092289.08gold quality
body of pancreasUBERON:000115089.07gold quality
thyroid glandUBERON:000204689.06gold quality
adrenal cortexUBERON:000123588.93gold quality
pancreasUBERON:000126488.92gold quality
left ventricle myocardiumUBERON:000656688.86gold quality
heart right ventricleUBERON:000208088.85gold quality
saliva-secreting glandUBERON:000104488.78gold quality
popliteal arteryUBERON:000225088.74gold quality
tibial arteryUBERON:000761088.73gold quality
germinal epithelium of ovaryUBERON:000130488.41gold quality
right lobe of thyroid glandUBERON:000111988.36gold quality
endocervixUBERON:000045888.26gold quality
ectocervixUBERON:001224988.26gold quality
minor salivary glandUBERON:000183088.10gold quality
lymph nodeUBERON:000002988.09gold quality
aortaUBERON:000094788.09gold quality
right coronary arteryUBERON:000162588.05gold quality
metanephros cortexUBERON:001053387.98gold quality
omental fat padUBERON:001041487.97gold quality
peritoneumUBERON:000235887.92gold quality
muscle layer of sigmoid colonUBERON:003580587.86gold quality
myocardiumUBERON:000234987.85gold quality
body of stomachUBERON:000116187.81gold quality
tonsilUBERON:000237287.79gold quality
esophagogastric junction muscularis propriaUBERON:003584187.79gold quality
adult mammalian kidneyUBERON:000008287.78gold quality
endometriumUBERON:000129587.76gold quality
lower esophagusUBERON:001347387.75gold quality
lower esophagus muscularis layerUBERON:003583387.74gold quality
left coronary arteryUBERON:000162687.73gold quality
descending thoracic aortaUBERON:000234587.72gold quality
adipose tissue of abdominal regionUBERON:000780887.71gold quality
left ovaryUBERON:000211987.68gold quality
right ovaryUBERON:000211887.64gold quality
eyeUBERON:000097087.60gold quality
body of uterusUBERON:000985387.44gold quality
ascending aortaUBERON:000149687.43gold quality
thoracic aortaUBERON:000151587.39gold quality
ovaryUBERON:000099287.32gold quality
adenohypophysisUBERON:000219687.10gold quality
hindlimb stylopod muscleUBERON:000425287.08gold quality
coronary arteryUBERON:000162187.01gold quality
palpebral conjunctivaUBERON:000181287.00gold quality
lower esophagus mucosaUBERON:003583486.99gold quality
stomachUBERON:000094586.98gold quality
esophagusUBERON:000104386.97gold quality
adipose tissueUBERON:000101386.95gold quality
subcutaneous adipose tissueUBERON:000219086.86gold quality
bone marrowUBERON:000237186.67gold quality
spleenUBERON:000210686.66gold quality
right uterine tubeUBERON:000130286.65gold quality
connective tissueUBERON:000238486.63gold quality
vaginaUBERON:000099686.61gold quality
sural nerveUBERON:001548886.57gold quality
mouth mucosaUBERON:000372986.55gold quality
prostate glandUBERON:000236786.54gold quality
granulocyteCL:000009486.45gold quality
smooth muscle tissueUBERON:000113586.40gold quality
esophagus mucosaUBERON:000246986.39gold quality
right lobe of liverUBERON:000111486.35gold quality
pituitary glandUBERON:000000786.33gold quality
vermiform appendixUBERON:000115486.29gold quality
upper lobe of left lungUBERON:000895286.21gold quality
uterusUBERON:000099586.19gold quality
prefrontal cortexUBERON:000045186.17gold quality
muscle of legUBERON:000138386.17gold quality
cardiac muscle of right atriumUBERON:000337986.15gold quality
parietal pleuraUBERON:000240086.12gold quality
esophagus squamous epitheliumUBERON:000692086.11gold quality
kidneyUBERON:000211386.10gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes7.16

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Corpus callosumtissue62.1
Spinal cordtissue49.9
Midbraintissue47.5
Thalamustissue46.3
Ponstissue45.8
Medulla oblongatatissue45.3
Putamentissue43.9
Substantia nigratissue43.3
Cerebral cortextissue41.1low
Somatosensory cortextissue41.1
Superior colliculitissue40.7
Hippocampal formationtissue40.3
Occipital cortextissue40.0
Periaqueductal graytissue39.1
Motor cortextissue37.9
Hypothalamustissue37.9
Prefrontal cortextissue37.2
Ventral forebraintissue37.2
Septumtissue37.0
Retrosplenial and cingulate cortextissue36.4
Entorhinal cortextissue35.9
Retrosplenial cortextissue35.7
Temporal cortextissue35.4
Amygdalatissue34.6
Cerebellumtissue33.7low
Olfactory bulbtissue33.6
Kidneytissue33.0medium
Insular cortextissue32.9
Frontal cortextissue31.5
Epididymistissue30.4low
Basal gangliatissue29.5low
Heart muscletissue29.3low
Salivary glandtissue28.9not detected
Caudate putamentissue27.9
Thyroid glandtissue25.7low
Parathyroid glandtissue23.8low
Livertissue22.9low
Adrenal glandtissue22.8low
Pancreastissue22.7medium
Breasttissue21.6low
Lymph nodetissue20.7low
Prostatetissue19.4not detected
Tonsiltissue19.0low
Rectumtissue18.8medium
Placentatissue18.4low
Smooth muscletissue18.3not detected
Adipose tissuetissue18.1not detected
Cervixtissue18.0low
Spleentissue17.5not detected
Choroid plexustissue17.1
Urinary bladdertissue16.9medium
Tonguetissue16.2
Gallbladdertissue16.2medium
Seminal vesicletissue16.0not detected
Retinatissue15.9
Colontissue15.9medium
Endometrium 1tissue15.6low
Ovarytissue15.5low
Thymustissue15.2
Esophagustissue14.6medium

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — White matter (62.1), Ventral spinal cord (49.9), Dorsal spinal cord (44.4), Dorsal hippocampus (40.3), Subiculum (37.8).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting COMMD10 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 60 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-126-5P100.0072.713180
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-150-5P99.9966.691976
HSA-MIR-548AW99.9972.573559
HSA-MIR-428299.9975.366408
HSA-MIR-477599.9875.006394
HSA-MIR-548P99.9872.253784
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-60799.9773.625593
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-590-3P99.9674.346478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-367199.9073.043897
HSA-MIR-548D-3P99.8770.674362
HSA-MIR-221-5P99.8665.451052
HSA-MIR-807399.8665.211118
HSA-MIR-548BB-3P99.8670.584354
HSA-MIR-548AC99.8470.774351
HSA-MIR-548H-3P99.8470.804349
HSA-MIR-548Z99.8470.804349
HSA-MIR-4713-5P99.7867.801794
HSA-MIR-4645-3P99.7669.33993
HSA-MIR-132-3P99.7370.561424

Functional genomics

gnomAD constraint: pLI 0.00395, LOEUF 1.81, missense Z -2.14 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000274458 — one region, missense o/e 1.33.

Literature-anchored findings (GeneRIF, showing 5)

  • Data demonstrate that the FMNL2/COMMD10/p65 NF kappaB axis acts as a critical regulator in the maintenance of metastatic phenotypes in colorectal cancer. (PMID:28817833)
  • Expression profile and bioinformatics analysis of COMMD10 in BALB/C mice and human. (PMID:30787448)
  • COMMD10 inhibits tumor progression and induces apoptosis by blocking NF-kappaB signal and values up BCLC staging in predicting overall survival in hepatocellular carcinoma. (PMID:34047468)
  • COMMD10 inhibits HIF1alpha/CP loop to enhance ferroptosis and radiosensitivity by disrupting Cu-Fe balance in hepatocellular carcinoma. (PMID:35101526)
  • Comprehensive analysis of COMMD10 as a novel prognostic biomarker for gastric cancer. (PMID:36919165)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
mus_musculusCommd10ENSMUSG00000042705
rattus_norvegicusCommd10ENSRNOG00000003958
drosophila_melanogasterVletFBGN0030323

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1916706) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

Mouse phenotype (MP)Records
abnormal placenta morphology1
abnormal trophoblast layer morphology1
lethality throughout fetal growth and development, complete penetrance1
preweaning lethality, complete penetrance1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Dictyostelium discoideumQ554G332.5%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
LINCADLncRNA107986443
AP3S1protein-coding1176
LVRNprotein-coding206338
ARL14EPLprotein-coding644100
MIR12130ncRNA113219464
SEMA6A-AS1ncRNA101927233
SEMA6Aprotein-coding57556
SEMA6A-AS2ncRNA105379132
LINC02214ncRNA102467223

Protein

Protein identifiers

COMM domain-containing protein 10 — Q9Y6G5 (reviewed: Q9Y6G5)

All UniProt accessions (4): D6RC04, D6RJ90, H0Y9N4, Q9Y6G5

UniProt curated annotations — full annotation on UniProt →

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. May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B.

Subunit / interactions. Component of the commander complex consisting of the CCC subcomplex and the retriever subcomplex. Component of the CCC (COMMD/CCDC22/CCDC93) subcomplex consisting of COMMD1, COMMD2, COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10, CCDC22 and CCDC93; within the complex forms a heterodimer with COMMD5. Interacts with RELA, RELB, NFKB1/p105, NFKB2/p100. Interacts with CCDC22, CCDC93, SCNN1B, CUL1, CUL2, CUL3, CUL4A, CUL4B, CUL7.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the COMM domain-containing protein 10 family.

RefSeq proteins (2): NP_001295009, NP_057228* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR017920COMMDomain
IPR037361COMMD10Family

Pfam: PF07258, PF21672

UniProt features (19 total): helix 7, strand 4, turn 2, modified residue 2, initiator methionine 1, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures by resolution:

PDBTitleMethodResolution (Å)
9ZMYCrystal structure of the human Commd10 HN domain in domain swapped conformationX-RAY DIFFRACTION1.62
9ZN0Crystal structure of the Commd10 S50E HN domain mutant in domain swapped conformationX-RAY DIFFRACTION2.12
8P0WStructure of the human Commander complex COMMD ringELECTRON MICROSCOPY2.9
8F2RHuman CCC complexELECTRON MICROSCOPY3.12
8ESDCrystal structure of COMMD7-COMMD9-COMMD5-COMMD10 tetramerX-RAY DIFFRACTION3.33
8F2UHuman CCC complexELECTRON MICROSCOPY3.53

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y6G5-F184.190.49

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH approved · IF supported

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2)

TypePositions
N-acetylalanine2
Phosphoserine155

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

IDPathwayEvidence
R-HSA-8951664Neddylationcurated
R-HSA-392499Metabolism of proteins—
R-HSA-597592Post-translational protein modification—

MSigDB gene sets: 115 (showing top): YAATNRNNNYNATT_UNKNOWN, GOBP_VESICLE_MEDIATED_TRANSPORT, IRF7_01, OCT1_07, TGANTCA_AP1_C, GOBP_ENDOCYTIC_RECYCLING, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, ACEVEDO_LIVER_CANCER_UP, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, HOXA4_Q2, NKX3A_01, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, PARENT_MTOR_SIGNALING_UP

GO Biological Process (2): DNA-templated transcription (GO:0006351), endocytic recycling (GO:0032456)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), endosome membrane (GO:0010008), protein-containing complex (GO:0032991), nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789)

Reactome top-level categories

2 top-level categories:

CategoryPathways
Post-translational protein modification1
Metabolism of proteins1

GO top-level categories

16 GO namespaces:

CategoryTerms
cellular anatomical structure2
gene expression1
RNA biosynthetic process1
endosomal transport1
vesicle-mediated transport to the plasma membrane1
binding1
nuclear lumen1
endosome1
cytoplasmic vesicle membrane1
bounding membrane of organelle1
cellular_component1
intracellular membrane-bounded organelle1
intracellular anatomical structure1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO termNSEvidence
nucleoplasmCCdirect assay
protein-containing complexCCdirect assay

Protein interactions and networks

STRING

showing 15 of 1,147 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
COMMD10COMMD2Q86X83789
COMMD10COMMD1Q8N668777
COMMD10COMMD9Q9P000749
COMMD10A0A2R8Y455A0A2R8Y455741
COMMD10COMMD7Q86VX2732
COMMD10COMMD6Q7Z4G1727
COMMD10COMMD5Q9GZQ3725
COMMD10COMMD8Q9NX08697
COMMD10COMMD3Q9UBI1683
COMMD10COMMD4Q9H0A8672
COMMD10CCDC93Q567U6647
COMMD10CCDC22O60826613
COMMD10VPS26CO14972539
COMMD10VPS35LQ7Z3J2474
COMMD10DENND10Q8TCE6457

IntAct

Human interaction partners of COMMD10 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

12 partners by confidence:

PartnerInteraction typeMIscoreRecords
CCDC22association0.9403
COMMD5physical association0.8705
CCDC93physical association0.8501
COMMD1physical association0.8301
FKBP1Aphysical association0.5603
FOSphysical association0.5603
GATMphysical association0.5603
UQCRC1physical association0.5603
VPS26Cassociation0.5302
COMMD7association0.5301
MAGEA9association0.3501
NFKB1association0.3501

BioGRID (106 interactions; top human partners by supporting records): CCDC22 (Co-fractionation; 8 records), COMMD2 (Co-fractionation; 7 records), COMMD3 (Affinity Capture-MS; 6 records), CCDC93 (Co-fractionation; 5 records), COMMD1 (Co-fractionation; 5 records), COMMD4 (Affinity Capture-MS; 5 records), COMMD6 (Affinity Capture-MS; 5 records), COMMD5 (Co-fractionation; 4 records), COMMD8 (Affinity Capture-MS; 4 records), COMMD7 (Affinity Capture-MS; 3 records), DSCR3 (Affinity Capture-MS; 3 records), RELA (Affinity Capture-Western; 3 records), VPS29 (Affinity Capture-MS; 3 records), C11orf73 (Affinity Capture-MS; 2 records), C16orf62 (Affinity Capture-MS; 2 records)

Protein complexes (CORUM) (2)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

2 complexes by size:

ComplexSubunitsMembers
CCC-Wash (WASH1, FAM21C) complex15COMMD3, COMMD4, CCDC22, COMMD1, COMMD8, WASHC1, WASHC2C, CCDC93, COMMD10, COMMD2, COMMD5, COMMD7, COMMD6, COMMD9, VPS35L
CCC complex13COMMD2, COMMD3, COMMD6, COMMD8, VPS35L, CCDC93, COMMD1, COMMD10, COMMD4, COMMD5, COMMD7, COMMD9, CCDC22

Disease & clinical

Genetic variants

Variant evidence for COMMD10: 49 ClinVar records (0 pathogenic / likely pathogenic); 5 GWAS associations.

ClinVar

49 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance36
Likely benign3
Benign2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 40 predictions of 1,130):

Position(s)EffectΔscoreSites
5:116087495–116087496acceptor_loss1.00003
5:116091077–116091078acceptor_loss1.00006
5:116092541acceptor_gain1.0000
5:116092543–116092544acceptor_loss1.00006
5:116092701–116092702donor_loss1.00005
5:116134179–116134180donor_loss1.00004
5:116291514acceptor_gain1.0000
5:116291515–116291516acceptor_loss1.00005
5:116291577donor_loss1.00003
5:116085094–116085095donor_loss0.99006

AlphaMissense

282 missense substitutions predicted likely pathogenic (of 1,324 scored), across 101 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
D19980.9120.958
F4980.8960.979
W11370.9220.991
W13970.9120.993
E19270.8440.934
E5370.8230.896
F6170.7330.882
F3060.8510.954
Q19560.8490.972
F17960.8150.934
F10960.7220.835
M14560.7100.806
L5750.8660.993
R3650.8190.983
K5650.7490.809
F18750.7330.934
L3440.8730.972
Y18840.8570.953
F12440.8280.856
L18440.8280.977

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

CancerPrognosticp-value
Kidney Renal Clear Cell Carcinoma (TCGA)favorable3.52e-07
Stomach Adenocarcinoma (TCGA)unfavorable0.000151

Disease associations

OMIM: gene MIM:616704 | disease phenotypes:

GWAS associations

5 associations:

StudyTraitp-value
GCST009136_1Ankle-brachial index3e-9
GCST001371_17Inflammatory biomarkers7e-7
GCST002119_7Metabolite levels (X-11787)4e-6
GCST002519_2Asthma or chronic obstructive pulmonary disease4e-6
GCST001567_10Bipolar disorder and schizophrenia8e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO IDTrait name
EFO:0005276hydroxy-leucine measurement
EFO:0003912ankle brachial index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases expression, decreases methylation4
sodium arsenitedecreases expression, increases expression2
Cisplatinaffects cotreatment, decreases expression2
Smokedecreases expression, increases abundance, decreases reaction2
Valproic Aciddecreases expression2
aristolochic acid Idecreases expression1
dicrotophosdecreases expression1
methyleugenoldecreases expression1
bisphenol Aaffects cotreatment, increases expression1
arseniteaffects binding, increases reaction1
ochratoxin Adecreases expression1
cupric chloridedecreases expression1
glycidamideincreases expression1
jinfukangaffects cotreatment, decreases expression1
Resveratrolaffects cotreatment, increases expression1
Decitabinedecreases expression, decreases reaction1
Air Pollutantsdecreases expression, increases abundance1
Carcinogensdecreases expression1
Coaldecreases expression, increases abundance1
Dexamethasoneaffects cotreatment, increases expression1
Ethyl Methanesulfonatedecreases expression1
Formaldehydeincreases expression1
Indomethacinincreases expression, affects cotreatment1
Methyl Methanesulfonatedecreases expression1
Mustard Gasdecreases expression1
Mutagensdecreases expression1
Plant Extractsincreases expression, affects cotreatment1
Quercetindecreases expression1
Tetrachlorodibenzodioxindecreases expression1
Tobacco Smoke Pollutionincreases expression1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.