CCDC81

Summary

CCDC81 (coiled-coil domain containing 81, HGNC:26281) is a protein-coding gene on chromosome 11q14.2, encoding Coiled-coil domain-containing protein 81 (Q6ZN84).

Located in centrosome; ciliary basal body; and plasma membrane.

Source: NCBI Gene 60494 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 126 total — 2 pathogenic
• MANE Select transcript: NM_001156474

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26281
Approved symbol	CCDC81
Name	coiled-coil domain containing 81
Location	11q14.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ16339, FLJ23514
Ensembl gene	ENSG00000149201
Ensembl biotype	protein_coding
Entrez	60494

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 retained_intron, 4 protein_coding

ENST00000354755, ENST00000445632, ENST00000525247, ENST00000528728, ENST00000529603, ENST00000530845, ENST00000531271, ENST00000531587, ENST00000532215, ENST00000532466

RefSeq mRNA: 2 — MANE Select: NM_001156474 NM_001156474, NM_021827

CCDS: CCDS53691, CCDS8276

Canonical transcript exons

ENST00000445632 — 15 exons

Exon	Start	End
ENSE00000989299	86412387	86412559
ENSE00000989303	86414789	86414867
ENSE00000989307	86415093	86415313
ENSE00001426057	86408127	86408270
ENSE00002151315	86374887	86375242
ENSE00002166028	86422574	86423106
ENSE00003469593	86407614	86407701
ENSE00003478676	86397621	86397742
ENSE00003581927	86400678	86400801
ENSE00003594792	86386051	86386112
ENSE00003639378	86392541	86392797
ENSE00003646516	86395334	86395413
ENSE00003662923	86419928	86420053
ENSE00003672146	86409261	86409365
ENSE00003679650	86387516	86387672

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 95.63.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3811 / max 28.2996, expressed in 160 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116110	0.0894	46
116108	0.0693	27
116112	0.0517	20
116109	0.0513	25
116115	0.0455	16
116111	0.0420	18
116113	0.0250	10
116114	0.0069	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.63	gold quality
bronchial epithelial cell	CL:0002328	90.28	gold quality
epithelium of bronchus	UBERON:0002031	89.99	gold quality
bronchus	UBERON:0002185	88.72	gold quality
sperm	CL:0000019	87.05	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	87.02	gold quality
male germ cell	CL:0000015	83.90	silver quality
mucosa of paranasal sinus	UBERON:0005030	82.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.52	gold quality
right coronary artery	UBERON:0001625	76.25	gold quality
epithelium of nasopharynx	UBERON:0001951	75.87	gold quality
popliteal artery	UBERON:0002250	73.78	gold quality
tibial artery	UBERON:0007610	73.77	gold quality
left uterine tube	UBERON:0001303	73.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.22	gold quality
secondary oocyte	CL:0000655	71.40	silver quality
aorta	UBERON:0000947	71.23	gold quality
stromal cell of endometrium	CL:0002255	71.17	gold quality
left coronary artery	UBERON:0001626	71.12	gold quality
ventricular zone	UBERON:0003053	71.05	gold quality
fallopian tube	UBERON:0003889	70.52	gold quality
saphenous vein	UBERON:0007318	69.87	gold quality
coronary artery	UBERON:0001621	69.85	gold quality
choroid plexus epithelium	UBERON:0003911	69.63	gold quality
endocervix	UBERON:0000458	69.38	gold quality
left testis	UBERON:0004533	69.22	gold quality
ascending aorta	UBERON:0001496	68.35	gold quality
body of uterus	UBERON:0009853	68.28	gold quality
nasal cavity epithelium	UBERON:0005384	68.27	silver quality
thoracic aorta	UBERON:0001515	68.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting CCDC81, 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-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-3923	99.52	69.21	446
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc81	ENSMUSG00000039391
rattus_norvegicus	Ccdc81	ENSRNOG00000033733

Protein

Protein identifiers

Coiled-coil domain-containing protein 81 — Q6ZN84 (reviewed: Q6ZN84)

All UniProt accessions (2): Q6ZN84, E9PMI9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ZN84-1	1	yes
Q6ZN84-2	2
Q6ZN84-3	3

RefSeq proteins (2): NP_001149946, NP_068599 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026295	CCD81	Family
IPR028034	HU-CCDC81	Domain
IPR040673	CCDC81_HU_dom_2	Domain

Pfam: PF14908, PF18289

UniProt features (14 total): modified residue 4, splice variant 3, sequence conflict 2, chain 1, region of interest 1, sequence variant 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZN84-F1	71.04	0.32

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 (4): 206, 275, 296, 417

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): MODULE_255, MODULE_317, GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_CENTROSOME, CYTAGCAAY_UNKNOWN, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, MODULE_69, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, CACBINDINGPROTEIN_Q6, MODULE_37

GO Biological Process (0):

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

GO Cellular Component (6): centrosome (GO:0005813), microtubule organizing center (GO:0005815), plasma membrane (GO:0005886), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
cellular anatomical structure	2
binding	1
centriole	1
microtubule cytoskeleton	1
membrane	1
cell periphery	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

348 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC81	CFAP184	Q2M329	618
CCDC81	CCDC146	Q8IYE0	527
CCDC81	CFAP70	Q5T0N1	527
CCDC81	CFAP263	Q9H0I3	513
CCDC81	FAM217A	Q8IXS0	479
CCDC81	SPMIP4	Q8N865	472
CCDC81	CFAP44	Q96MT7	472
CCDC81	ZNF583	Q96ND8	464
CCDC81	OR6M1	Q8NGM8	447
CCDC81	CFAP96	A7E2U8	446
CCDC81	CCDC13	Q8IYE1	445
CCDC81	TMEM247	A6NEH6	445
CCDC81	RSPH10B2	B2RC85	433
CCDC81	OR8H3	Q8N146	432
CCDC81	UQCC6	Q69YU5	418

IntAct

12 interactions, top by confidence:

A	B	Type	Score
CCDC81	SCIMP	psi-mi:“MI:0915”(physical association)	0.610
SCIMP	LYN	psi-mi:“MI:0914”(association)	0.500
CD37	SCIMP	psi-mi:“MI:0914”(association)	0.460
SCIMP	CD37	psi-mi:“MI:0914”(association)	0.460
PB2	SEC15L3	psi-mi:“MI:0914”(association)	0.350
PB2		psi-mi:“MI:0914”(association)	0.350
CD53	SCIMP	psi-mi:“MI:0914”(association)	0.350
CCDC81	CD53	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (4): CCDC81 (Affinity Capture-MS), CCDC81 (Cross-Linking-MS (XL-MS)), HNRNPUL1 (Cross-Linking-MS (XL-MS)), CCDC81 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUT1, A0JLY1, A4IJ21, A5A6J4, A8I9E8, A8IRJ7, A8IUG5, E1BJL9, F1N7G5, M0R3K6, M1V4Y8, O95990, Q0VC09, Q0VFZ6, Q17QH9, Q1RM03, Q2KI00, Q2KIQ2, Q32LH1, Q3TGF2, Q3TVW5, Q4R698, Q4R7T8, Q4R8Y5, Q5NVP3, Q5RE49, Q5U4F3, Q5XIN9, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q6ZN84, Q78TU8, Q8BRC6, Q8N443

Diamond homologs: Q5XIN9, Q6ZN84, Q9D5W4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	104
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2427027	NC_000011.9:g.(?85339652)(86666127_?)del	Pathogenic
815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	Pathogenic

SpliceAI

2837 predictions. Top by Δscore:

Variant	Effect	Δscore
11:86375238:GGAGG:G	donor_gain	1.0000
11:86375239:GAGGG:G	donor_gain	1.0000
11:86375240:A:T	donor_gain	1.0000
11:86375241:GG:G	donor_gain	1.0000
11:86375242:GG:G	donor_gain	1.0000
11:86386050:GAA:G	acceptor_gain	1.0000
11:86386564:T:G	donor_gain	1.0000
11:86387660:G:GG	donor_gain	1.0000
11:86392729:A:G	donor_gain	1.0000
11:86392766:G:GT	donor_gain	1.0000
11:86400673:TACA:T	acceptor_loss	1.0000
11:86400674:ACAG:A	acceptor_loss	1.0000
11:86400675:CAGAT:C	acceptor_loss	1.0000
11:86400676:A:AC	acceptor_loss	1.0000
11:86400676:A:AG	acceptor_gain	1.0000
11:86400677:G:GG	acceptor_gain	1.0000
11:86400677:GAT:G	acceptor_gain	1.0000
11:86400677:GATA:G	acceptor_gain	1.0000
11:86400677:GATAT:G	acceptor_gain	1.0000
11:86400797:GAAAG:G	donor_gain	1.0000
11:86400798:AAAG:A	donor_loss	1.0000
11:86400799:AAGG:A	donor_loss	1.0000
11:86400802:GTA:G	donor_loss	1.0000
11:86400803:T:G	donor_loss	1.0000
11:86409252:A:AG	acceptor_gain	1.0000
11:86409253:A:AG	acceptor_gain	1.0000
11:86409255:C:G	acceptor_gain	1.0000
11:86409256:A:AG	acceptor_gain	1.0000
11:86409257:A:G	acceptor_gain	1.0000
11:86409258:TA:T	acceptor_loss	1.0000

AlphaMissense

4332 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:86392735:T:C	F165L	0.992
11:86392737:T:A	F165L	0.992
11:86392737:T:G	F165L	0.992
11:86386065:T:A	W32R	0.991
11:86386065:T:C	W32R	0.991
11:86392679:T:C	F146S	0.989
11:86387544:T:C	F57S	0.987
11:86387538:G:A	G55E	0.986
11:86387610:T:C	F79S	0.986
11:86392696:G:T	G152W	0.986
11:86392697:G:A	G152E	0.986
11:86387520:T:A	V49D	0.985
11:86392703:T:C	L154P	0.985
11:86392736:T:C	F165S	0.985
11:86409327:G:C	A394P	0.985
11:86387543:T:C	F57L	0.984
11:86387545:C:A	F57L	0.984
11:86387545:C:G	F57L	0.984
11:86386083:T:C	F38L	0.981
11:86386085:T:A	F38L	0.981
11:86386085:T:G	F38L	0.981
11:86386067:G:C	W32C	0.980
11:86386067:G:T	W32C	0.980
11:86409321:G:C	A392P	0.980
11:86387609:T:C	F79L	0.979
11:86387611:T:A	F79L	0.979
11:86387611:T:G	F79L	0.979
11:86392618:T:C	C126R	0.979
11:86392703:T:A	L154H	0.978
11:86392685:T:C	F148S	0.977

dbSNP variants (sampled 300 via entrez): RS1000004412 (11:86404014 C>A), RS1000037305 (11:86423573 C>A,T), RS1000291200 (11:86403643 G>A), RS1000368431 (11:86417746 CTT>C,CT,CTTT,CTTTTT,CTTTTTT), RS1000380323 (11:86397075 C>T), RS1000469000 (11:86410418 G>A), RS1000555182 (11:86415591 T>C), RS1000590176 (11:86410672 T>C), RS1000591605 (11:86376839 C>T), RS1000622008 (11:86422146 C>T), RS1000637553 (11:86415670 T>C), RS1000686251 (11:86376582 G>A), RS1000798241 (11:86383998 A>G,T), RS1000823842 (11:86401973 A>G), RS1000849784 (11:86377796 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002527_9	Eosinophilic esophagitis	2.000000e-07
GCST002828_6	Urate levels in obese individuals	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	2
bisphenol A	decreases expression	1
trichostatin A	increases expression	1
sodium arsenite	decreases expression	1
triadimefon	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Endosulfan	increases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders