CCDC126

Summary

CCDC126 (coiled-coil domain containing 126, HGNC:22398) is a protein-coding gene on chromosome 7p15.3, encoding Coiled-coil domain-containing protein 126 (Q96EE4).

Located in membrane.

Source: NCBI Gene 90693 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 34 total
• MANE Select transcript: NM_138771

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22398
Approved symbol	CCDC126
Name	coiled-coil domain containing 126
Location	7p15.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23031
Ensembl gene	ENSG00000169193
Ensembl biotype	protein_coding
Entrez	90693

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000307471, ENST00000409765, ENST00000410069, ENST00000448353, ENST00000472407, ENST00000484553, ENST00000485233, ENST00000486109, ENST00000898707, ENST00000898708, ENST00000898709, ENST00000898710, ENST00000898711, ENST00000924034, ENST00000924035, ENST00000924036, ENST00000970696

RefSeq mRNA: 1 — MANE Select: NM_138771 NM_138771

CCDS: CCDS5384

Canonical transcript exons

ENST00000307471 — 4 exons

Exon	Start	End
ENSE00001127487	23642931	23644708
ENSE00001371019	23597967	23598051
ENSE00001378813	23597382	23597605
ENSE00003580379	23611171	23611553

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 95.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9545 / max 71.4686, expressed in 1750 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77673	6.5430	1718
77677	0.4388	227
77680	0.2914	124
77674	0.2804	119
77675	0.2530	96
77678	0.1440	48
77679	0.0040	2

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.14	gold quality
left testis	UBERON:0004533	93.14	gold quality
right testis	UBERON:0004534	92.79	gold quality
testis	UBERON:0000473	91.84	gold quality
adrenal tissue	UBERON:0018303	91.61	gold quality
buccal mucosa cell	CL:0002336	90.83	silver quality
pigmented layer of retina	UBERON:0001782	90.46	gold quality
bone marrow cell	CL:0002092	89.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.67	gold quality
calcaneal tendon	UBERON:0003701	87.49	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.38	gold quality
adult organism	UBERON:0007023	86.75	gold quality
ileal mucosa	UBERON:0000331	86.67	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.65	gold quality
tibialis anterior	UBERON:0001385	86.11	gold quality
bone marrow	UBERON:0002371	85.24	gold quality
tibia	UBERON:0000979	85.20	gold quality
deltoid	UBERON:0001476	84.87	silver quality
islet of Langerhans	UBERON:0000006	84.77	gold quality
monocyte	CL:0000576	84.58	gold quality
biceps brachii	UBERON:0001507	84.51	gold quality
heart right ventricle	UBERON:0002080	84.41	gold quality
leukocyte	CL:0000738	84.37	gold quality
bronchial epithelial cell	CL:0002328	83.94	gold quality
colonic epithelium	UBERON:0000397	83.67	gold quality
trabecular bone tissue	UBERON:0002483	83.28	gold quality
skeletal muscle tissue	UBERON:0001134	83.23	gold quality
bronchus	UBERON:0002185	83.06	gold quality
jejunal mucosa	UBERON:0000399	82.95	gold quality
epithelial cell of pancreas	CL:0000083	82.78	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

140 targeting CCDC126, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4666A-3P	99.96	71.71	3434

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc126	ENSDARG00000062695
mus_musculus	Ccdc126	ENSMUSG00000050786
rattus_norvegicus	Ccdc126	ENSRNOG00000009322
caenorhabditis_elegans	gly-2	WBGENE00001627

Paralogs (2): MGAT5 (ENSG00000152127), MGAT5B (ENSG00000167889)

Protein

Protein identifiers

Coiled-coil domain-containing protein 126 — Q96EE4 (reviewed: Q96EE4)

All UniProt accessions (2): Q96EE4, C9J0J0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

RefSeq proteins (1): NP_620126* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027833	MGT5A-like_N	Domain
IPR042759	CCDC126	Family

Pfam: PF15027

UniProt features (5 total): glycosylation site 2, signal peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96EE4-F1	65.69	0.15

Functional residue map

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

Glycosylation sites (2): 110, 134

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, HIF1_Q3, NRF2_Q4, NKX22_01, CUI_TCF21_TARGETS_2_DN, TTTGCAC_MIR19A_MIR19B, RFX1_01, GCCNNNWTAAR_UNKNOWN, BOYLAN_MULTIPLE_MYELOMA_PCA3_UP, HSF2_01, PR_01, HSF1_01, JOHNSTONE_PARVB_TARGETS_2_DN, HHEX_TARGET_GENES, MIR607

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2

Protein interactions and networks

STRING

404 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC126	LRIT2	A6NDA9	625
CCDC126	OR5M11	Q96RB7	625
CCDC126	OR5AR1	Q8NGP9	571
CCDC126	DPY19L3	Q6ZPD9	564
CCDC126	WDR17	Q8IZU2	542
CCDC126	OR5M10	Q6IEU7	532
CCDC126	FAM169A	Q9Y6X4	531
CCDC126	OR2I1	Q8NGU4	519
CCDC126	ASB17	Q8WXJ9	507
CCDC126	GALNTL5	Q7Z4T8	480
CCDC126	GRIFIN	A4D1Z8	479
CCDC126	CLLU1-AS1	Q5K130	479
CCDC126	ENOX1	Q8TC92	477
CCDC126	KCNJ14	Q9UNX9	466
CCDC126	RAP1GDS1	P52306	460

IntAct

13 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
MFF	MGAT5	psi-mi:“MI:0914”(association)	0.530
CCDC126	HTT	psi-mi:“MI:0915”(physical association)	0.400
ORF74	MGAT5	psi-mi:“MI:0914”(association)	0.350
GPM6A	HAX1	psi-mi:“MI:0914”(association)	0.350
GPM6A	KIF2A	psi-mi:“MI:0914”(association)	0.350
MFSD5	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC22A9	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC35A5	CLGN	psi-mi:“MI:0914”(association)	0.350
SLC7A1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), CCDC126 (Affinity Capture-MS), HTT (Affinity Capture-Luminescence)

ESM2 similar proteins: A2VE00, A2VE53, B0F9L7, F4HVS6, O75071, O82259, Q10MI0, Q28GJ0, Q2KJD6, Q2TLY2, Q2TLZ1, Q2TLZ2, Q2TLZ3, Q2TLZ4, Q2TLZ5, Q3SYZ9, Q4V7D3, Q502L1, Q561Q8, Q561X3, Q5EAJ6, Q5FVH8, Q5M8Y7, Q5R6R3, Q5ZM60, Q640L3, Q641E3, Q6NPP4, Q70UQ0, Q7TQE6, Q802A9, Q8BGQ6, Q8BIS8, Q8GSA7, Q8GYU3, Q8N5G2, Q8TEQ0, Q96EE4, Q9CQA5, Q9DBZ1

Diamond homologs: A2VE00, P97259, Q08834, Q09328, Q8BIS8, Q8R4G6, Q96EE4, Q3V5L5, Q765H6, Q9NDH7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

902 predictions. Top by Δscore:

Variant	Effect	Δscore
7:23642929:A:AG	acceptor_gain	1.0000
7:23642929:AGC:A	acceptor_gain	1.0000
7:23642929:AGCG:A	acceptor_gain	1.0000
7:23642930:G:GG	acceptor_gain	1.0000
7:23642930:GC:G	acceptor_gain	1.0000
7:23642930:GCG:G	acceptor_gain	1.0000
7:23642930:GCGG:G	acceptor_gain	1.0000
7:23597605:GGT:G	donor_loss	0.9900
7:23597605:GGTAA:G	donor_gain	0.9900
7:23597606:GTAAT:G	donor_loss	0.9900
7:23597607:T:G	donor_loss	0.9900
7:23611169:A:AG	acceptor_gain	0.9900
7:23611170:G:GG	acceptor_gain	0.9900
7:23611170:GA:G	acceptor_gain	0.9900
7:23611170:GAGTT:G	acceptor_gain	0.9900
7:23611224:G:GT	donor_gain	0.9900
7:23642915:T:TA	acceptor_gain	0.9900
7:23642921:A:AG	acceptor_gain	0.9900
7:23642927:CTAGC:C	acceptor_loss	0.9900
7:23642928:TA:T	acceptor_loss	0.9900
7:23642930:GCGGA:G	acceptor_gain	0.9900
7:23611165:TTACA:T	acceptor_loss	0.9800
7:23611168:CA:C	acceptor_loss	0.9800
7:23611169:AGAGT:A	acceptor_loss	0.9800
7:23611170:G:A	acceptor_loss	0.9800
7:23626231:A:G	donor_gain	0.9800
7:23642922:T:G	acceptor_gain	0.9800
7:23642932:G:A	acceptor_gain	0.9800
7:23597601:GCCAG:G	donor_gain	0.9700
7:23597613:G:GG	donor_gain	0.9700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000119151 (7:23624380 T>A), RS1000131456 (7:23644038 G>A), RS1000181512 (7:23636654 C>G,T), RS1000265077 (7:23618472 C>T), RS1000282419 (7:23632249 C>A,G), RS1000310627 (7:23620721 C>G,T), RS1000423376 (7:23639207 T>C), RS1000490211 (7:23612106 G>A,C,T), RS1000496964 (7:23631912 G>A), RS1000620706 (7:23604040 A>C,G), RS1000659301 (7:23643868 G>A), RS1000721833 (7:23639412 C>T), RS1000722904 (7:23625605 G>A), RS1000757169 (7:23599033 C>T), RS1000819600 (7:23612336 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005182_4	Common carotid intima-media thickness in HIV negative individuals	4.000000e-06
GCST006585_984	Blood protein levels	4.000000e-19
GCST90011900_196	Serum alkaline phosphatase levels	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation, affects cotreatment	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
(+)-JQ1 compound	increases expression	1
MT19c compound	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Copper	affects binding, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	increases expression	1
Hydrogen Peroxide	increases expression	1
Malathion	increases expression	1
Oxygen	decreases expression	1
Plant Oils	increases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Thimerosal	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.