DCDC2

Summary

DCDC2 (doublecortin domain containing 2, HGNC:18141) is a protein-coding gene on chromosome 6p22.3, encoding Doublecortin domain-containing protein 2 (Q9UHG0). Protein that plays a role in the inhibition of canonical Wnt signaling pathway.

This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 51473 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 7
• Clinical variants (ClinVar): 410 total — 14 pathogenic, 16 likely-pathogenic (top 8% of genes corpus-wide)
• GTEx eGene: eQTL in 24 tissues, sQTL in 1 (q < 0.05)
• Phenotypes (HPO): 58
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.06 (unconstrained)
• MANE Select transcript: NM_016356

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18141
Approved symbol	DCDC2
Name	doublecortin domain containing 2
Location	6p22.3
Locus type	gene with protein product
Status	Approved
Aliases	RU2, KIAA1154, DCDC2A, NPHP19
Ensembl gene	ENSG00000146038
Ensembl biotype	protein_coding
OMIM	605755
Entrez	51473

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

MANE Select: ENST00000378454

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

ENST00000378454, ENST00000378450, ENST00000436313, ENST00000883243, ENST00001122881, ENST00001136198

RefSeq mRNA: 2 — MANE Select: NM_016356 NM_001195610, NM_016356

CCDS: CCDS4550

Canonical transcript exons

ENST00000378454 — 10 exons

Exon	Start	End
ENSE00000973593	24278049	24278211
ENSE00000973594	24205002	24205102
ENSE00000973595	24178330	24178632
ENSE00000973598	24301715	24301846
ENSE00000973599	24290932	24291078
ENSE00000973600	24288852	24288906
ENSE00001085339	24353569	24353623
ENSE00001085344	24301968	24302044
ENSE00001477608	24357458	24358059
ENSE00003841950	24171755	24174834

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 97.71.

FANTOM5 (CAGE): breadth broad, TPM avg 5.4794 / max 474.4203, expressed in 354 samples.

Highest expression (Bgee): secondary oocyte, oocyte, oviduct epithelium, islet of Langerhans, kidney epithelium.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DCDC2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 24 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 25 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Thyroid	eqtl	2.3e-23	+0.34	6:24297672:T:C
Testis	sqtl	1.2e-14	+0.93	6:24176902:G:A
Pancreas	eqtl	4.6e-14	+0.34	6:24287323:A:G
Colon Transverse	eqtl	9.3e-14	+0.50	6:24361852:G:A
Pituitary	eqtl	2.7e-11	+0.69	6:24357974:G:A
Brain Nucleus accumbens basal ganglia	eqtl	1.9e-10	+0.44	6:24203303:G:A
Testis	eqtl	4.3e-09	+0.18	6:24287323:A:G
Brain Cortex	eqtl	5.7e-09	+0.40	6:24287323:A:G
Minor Salivary Gland	eqtl	4.6e-08	+0.94	6:24357974:G:A
Stomach	eqtl	1.4e-07	+0.38	6:24361852:G:A
Brain Frontal Cortex BA9	eqtl	1.5e-07	+0.38	6:24260832:T:C
Brain Cerebellar Hemisphere	eqtl	4.7e-07	+0.72	6:24430019:AACT:A
Lung	eqtl	1.4e-06	-0.25	6:24335719:A:C
Brain Anterior cingulate cortex BA24	eqtl	1.0e-05	+0.39	6:24224260:T:C
Brain Caudate basal ganglia	eqtl	3.9e-05	+0.22	6:24276025:G:A
Skin Sun Exposed Lower leg	eqtl	8.4e-05	+0.22	6:24290975:T:C
Breast Mammary Tissue	eqtl	7.4e-04	+0.16	6:24278959:C:A
Skin Not Sun Exposed Suprapubic	eqtl	8.8e-04	-0.30	6:24219932:C:T
Brain Amygdala	eqtl	2.5e-03	-2.45	6:24651771:G:C
Small Intestine Terminal Ileum	eqtl	1.3e-02	+0.62	6:24361852:G:A

FANTOM5 promoters

10 alternative TSS:

Promoter ID	TPM avg	Samples expressed
72167	3.1458	292
72171	1.4069	229
72170	0.2482	140
72166	0.1973	120
72165	0.1293	81
72168	0.1031	72
72172	0.0862	42
72173	0.0613	29
203908	0.0555	34
72169	0.0457	24

Top tissues by expression

showing 100 of 248 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.71	gold quality
oocyte	CL:0000023	96.15	gold quality
oviduct epithelium	UBERON:0004804	90.24	gold quality
islet of Langerhans	UBERON:0000006	87.60	gold quality
kidney epithelium	UBERON:0004819	86.95	gold quality
adult mammalian kidney	UBERON:0000082	86.78	gold quality
metanephros cortex	UBERON:0010533	86.43	gold quality
caput epididymis	UBERON:0004358	85.47	gold quality
kidney	UBERON:0002113	85.11	gold quality
pancreas	UBERON:0001264	84.67	gold quality
body of pancreas	UBERON:0001150	84.03	gold quality
buccal mucosa cell	CL:0002336	83.09	gold quality
metanephros	UBERON:0000081	81.46	gold quality
endometrium	UBERON:0001295	80.82	gold quality
bronchial epithelial cell	CL:0002328	80.60	gold quality
epithelial cell of pancreas	CL:0000083	79.71	silver quality
cortex of kidney	UBERON:0001225	79.41	gold quality
right uterine tube	UBERON:0001302	79.20	gold quality
bronchus	UBERON:0002185	78.80	gold quality
pigmented layer of retina	UBERON:0001782	78.79	gold quality
renal medulla	UBERON:0000362	78.59	gold quality
endothelial cell	CL:0000115	77.04	gold quality
fallopian tube	UBERON:0003889	75.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.87	gold quality
mucosa of paranasal sinus	UBERON:0005030	73.14	gold quality
gall bladder	UBERON:0002110	72.96	gold quality
thyroid gland	UBERON:0002046	69.84	gold quality
left lobe of thyroid gland	UBERON:0001120	69.81	gold quality
corpus epididymis	UBERON:0004359	68.42	gold quality
ventricular zone	UBERON:0003053	67.00	gold quality
right lobe of thyroid gland	UBERON:0001119	66.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	64.65	gold quality
decidua	UBERON:0002450	64.13	gold quality
right lung	UBERON:0002167	63.61	gold quality
pancreatic ductal cell	CL:0002079	63.57	silver quality
amniotic fluid	UBERON:0000173	62.95	gold quality
epithelium of mammary gland	UBERON:0003244	62.88	gold quality
mammary duct	UBERON:0001765	62.80	gold quality
prefrontal cortex	UBERON:0000451	62.48	gold quality
mucosa of transverse colon	UBERON:0004991	62.42	gold quality
right lobe of liver	UBERON:0001114	61.81	gold quality
lung	UBERON:0002048	61.63	gold quality
upper lobe of left lung	UBERON:0008952	61.37	gold quality
upper lobe of lung	UBERON:0008948	60.95	gold quality
testis	UBERON:0000473	60.80	gold quality
liver	UBERON:0002107	60.79	gold quality
right adrenal gland cortex	UBERON:0035827	60.19	gold quality
left testis	UBERON:0004533	59.91	gold quality
uterus	UBERON:0000995	59.54	gold quality
thoracic mammary gland	UBERON:0005200	58.44	gold quality
mammary gland	UBERON:0001911	58.42	gold quality
ileal mucosa	UBERON:0000331	58.20	silver quality
right testis	UBERON:0004534	58.08	gold quality
epithelium of nasopharynx	UBERON:0001951	57.88	silver quality
right adrenal gland	UBERON:0001233	57.83	gold quality
adenohypophysis	UBERON:0002196	57.69	gold quality
hypothalamus	UBERON:0001898	57.67	gold quality
pituitary gland	UBERON:0000007	57.36	gold quality
Brodmann (1909) area 9	UBERON:0013540	57.29	gold quality
seminal vesicle	UBERON:0000998	56.84	gold quality
ganglionic eminence	UBERON:0004023	56.84	gold quality
rectum	UBERON:0001052	56.46	gold quality
tibialis anterior	UBERON:0001385	56.36	silver quality
visceral pleura	UBERON:0002401	55.92	gold quality
frontal cortex	UBERON:0001870	55.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	55.82	gold quality
left adrenal gland	UBERON:0001234	55.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	55.39	gold quality
colonic epithelium	UBERON:0000397	55.34	gold quality
neocortex	UBERON:0001950	55.03	gold quality
adrenal cortex	UBERON:0001235	54.81	gold quality
left adrenal gland cortex	UBERON:0035825	54.78	gold quality
adrenal gland	UBERON:0002369	54.76	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	54.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
stomach	UBERON:0000945	54.19	gold quality
body of stomach	UBERON:0001161	54.05	gold quality
anterior cingulate cortex	UBERON:0009835	53.56	gold quality
caudate nucleus	UBERON:0001873	53.54	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
nucleus accumbens	UBERON:0001882	53.47	gold quality
right frontal lobe	UBERON:0002810	53.33	gold quality
left uterine tube	UBERON:0001303	53.17	gold quality
cerebral cortex	UBERON:0000956	53.01	gold quality
forebrain	UBERON:0001890	52.73	gold quality
nasal cavity mucosa	UBERON:0001826	52.70	gold quality
lower lobe of lung	UBERON:0008949	52.64	silver quality
adult organism	UBERON:0007023	52.63	gold quality
amygdala	UBERON:0001876	51.65	gold quality
cerebellar vermis	UBERON:0004720	51.65	gold quality
prostate gland	UBERON:0002367	51.36	gold quality
gastrocnemius	UBERON:0001388	51.23	gold quality
muscle of leg	UBERON:0001383	51.16	gold quality
corpus callosum	UBERON:0002336	51.15	gold quality
brain	UBERON:0000955	50.64	gold quality
Ammon’s horn	UBERON:0001954	50.29	gold quality
myocardium	UBERON:0002349	50.25	gold quality
female reproductive system	UBERON:0000474	50.22	gold quality
placenta	UBERON:0001987	49.64	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	730.98
E-GEOD-124472	yes	472.02
E-HCAD-10	yes	370.24
E-GEOD-83139	yes	166.07
E-CURD-119	yes	42.83
E-MTAB-5061	yes	26.21
E-GEOD-81547	yes	21.79
E-MTAB-10553	yes	19.33
E-ANND-3	yes	12.07
E-MTAB-6386	no	16.62

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 70 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	33.0
Pancreas	tissue	24.9	medium
Kidney	tissue	20.4	high
Periaqueductal gray	tissue	17.4
Spinal cord	tissue	15.3
Hippocampal formation	tissue	15.2
Septum	tissue	13.9
Hypothalamus	tissue	12.5
Corpus callosum	tissue	12.2
Basal ganglia	tissue	11.7	not detected
Amygdala	tissue	10.5
Medulla oblongata	tissue	10.4
Olfactory bulb	tissue	9.4
Pons	tissue	9.2
Cerebral cortex	tissue	8.7	low
Motor cortex	tissue	8.7
Ventral forebrain	tissue	8.7
Entorhinal cortex	tissue	8.5
Midbrain	tissue	8.4
Prefrontal cortex	tissue	8.3
Retrosplenial cortex	tissue	8.3
Thalamus	tissue	7.9
Retrosplenial and cingulate cortex	tissue	7.9
Putamen	tissue	7.8
Insular cortex	tissue	7.8
Parathyroid gland	tissue	7.7	not detected
Thyroid gland	tissue	7.7	low
Temporal cortex	tissue	7.7
Fallopian tube	tissue	7.2	high
Occipital cortex	tissue	7.2
Substantia nigra	tissue	6.8
Somatosensory cortex	tissue	6.7
Superior colliculi	tissue	6.6
Epididymis	tissue	5.0	medium
Breast	tissue	4.2	not detected
Endometrium 1	tissue	4.1	medium
Gallbladder	tissue	3.7	medium
Testis	tissue	3.4	medium
Lung	tissue	3.3	not detected
Nucleus accumbens	tissue	2.2
Seminal vesicle	tissue	2.1	medium
Liver	tissue	2.1	medium
Locus coeruleus	tissue	2.1
Stomach 1	tissue	1.7	not detected
Postcentral gyrus	tissue	1.6
Caudate putamen	tissue	1.6
Cervix	tissue	1.5	medium
Frontal cortex	tissue	1.5
Retina	tissue	1.3
Hippocampus	tissue	1.3	not detected
Adrenal gland	tissue	1.2	low
Pituitary gland	tissue	1.1
Cerebellum	tissue	1.1	not detected
Prostate	tissue	1.1	low
Rectum	tissue	0.7	not detected
Colon	tissue	0.7	not detected
Ovary	tissue	0.6	not detected
Placenta	tissue	0.6	not detected
Duodenum	tissue	0.6	not detected
Salivary gland	tissue	0.2	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Ventral spinal cord (15.3), Ventral hippocampus (15.2), Dorsal hippocampus (14.4), Subiculum (13.3), White matter (12.2).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EHF, FLCN

miRNA regulators (miRDB)

Targeting DCDC2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 205 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Functional genomics

gnomAD constraint: pLI 1.18e-09, LOEUF 1.06, missense Z 0.584 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000378454 — one region, missense o/e 0.98.

Literature-anchored findings (GeneRIF, showing 40)

• DCDC2 is proposed as a candidate gene for reading disability. (PMID:16278297)
• Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. (PMID:16385449)
• A slight tendency for an intronic deletion in DCDC2 to be associated with worse performance on some quantitative measures of dyslexia in the probands, was observed. (PMID:17450541)
• we found a nominally significant association for the quantitative dimension “word reading” and dcdc2 genotype (PMID:18810304)
• conclude that the causative variant/s in DCDC2 conferring susceptibility to dyslexia in our sample remain/s to be identified (PMID:19018237)
• suspected dyslexia-associated gene (PMID:19238550)
• Our data suggest that the causal variants for ADHD might be found in the VMP/DCDC2 region (PMID:19362708)
• DCDC2 is a risk gene for reading disorder. (PMID:20068590)
• Five alleles displayed strong enhancer activity and increased gene expression, while allele 1 showed no enhancer activity. These studies suggest that the association of BV677278 with RD reflects a role as a modifier of DCDC2 expression. (PMID:21042874)
• No statistically significant associations were found between DCDC2 or DYX1C1 and language phenotypes. Both DCDC2 and DYX1C1 DD susceptibility genes appear to have a pleiotropic role on mathematics but not language phenotypes. (PMID:21046216)
• We identified four rare variants that were significantly associated with the late MMN component. (PMID:21104116)
• At this point, there is no statistical evidence of association between the allelic variation in the three candidate genes and DD in our sample. (PMID:21203818)
• We provide further support for the role of KIAA0319 and DCDC2 in contributing to reading abilities (PMID:21457949)
• This study demonistrated that The superior prefrontal, temporal and occipital networks were positively related to DCDC2 in the schizophrenia, but not the control group. (PMID:21507613)
• DCDC2 overexpression in C. elegans causes an abnormal neuronal phenotype that can only be seen in ciliated neurons. Together our results suggest a potential role for DCDC2 in the structure and function of primary cilia (PMID:21698230)
• DCDC2 influences both reading and memory impairments. (PMID:21881542)
• The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese. (PMID:22490485)
• Mutations in cilia co-expressed DCDC2, DYX1C1 and KIAA0319 genes are associated with a cognitive neurological disorder, dyslexia. (PMID:22558177)
• The results of this study found that DCDC2 gene contained polymorphisms that were significantly associated with white matter volume in the left temporo-parietal region and that white matter volume influenced reading ability. (PMID:22683091)
• In prostate cancer cells, DCDC2 colocalized with microtubules and promoted cell migration and resistance to the microtubule-targeting drug taxol.DCDC2 is aberrantly expressed in prostate cancers. (PMID:22733135)
• DCDC2 rs807701 might contribute significantly to dyslexia risk. (PMID:23229871)
• This study demonstrated the association of developmental dyslexia with rs4504469 of KIAA0319 and not with any single-nucleotide polymorphisms of DCDC2. (PMID:23677054)
• BV677278 is a regulatory element that influences reading and language skills. (PMID:23746548)
• DCDC2d is associated with altered fractional anisotropy (PMID:24926531)
• Among children exposed to low socioeconomic level, READ1 [regulatory element associated with dyslexia 1 ] genetic variant targets the worst outcome in children’s attention. (PMID:25012462)
• the association of DCDC2 and KIAA0319 with Developmental dyslexia in Chinese population should be further validated (PMID:25230923)
• This study demonstrated that DCDC2 intron 2 deletion impair illusory visual motion perception-specifically processed by the magnocellular-dorsal (M-D) stream-is impaired in children with Developmental dyslexia. (PMID:25270309)
• An SNP in DCDC2 (rs793842) was significantly associated with the thickness of the left temporoparietal cortex. (PMID:25339756)
• DCDC2 interacts with the mediator of Wnt signaling dishevelled, and that DCDC2 overexpression inhibits beta-catenin-dependent Wnt signaling; central role of Wnt signaling in the pathogenesis of nephronophthisis-related ciliopathies (PMID:25557784)
• Our results reveal DCDC2a to be a deafness gene and a player in hair cell kinocilia and supporting cell primary cilia length regulation likely via its role in microtubule formation and stabilization. (PMID:25601850)
• A nonsynonymous polymorphism in DCDC2 (corrected P = 0.002) and a noncoding variant in S100B (corrected P = 0.016) showed a significant association with spelling performance in families of German origin. (PMID:25877001)
• In a population carrying a deletion in the DCDC2 gene, impaired motion perception was identified in subjects with dyslexia. (PMID:26019324)
• off-target, non-immune mediated effects of the mTOR-inhibitor everolimus on the podocyte cytoskeleton might involve regulation of microtubules, revealing a potential novel role of TUBB2B and DCDC2 in glomerular podocyte development (PMID:26331477)
• DCDC2 Polymorphism is associated with reading disability. (PMID:27100778)
• The study corroborates the importance of rs7765678-DCDC2 among others in the aetiology of dyslexia in a German case-control cohort. (PMID:27312598)
• Study identified biallelic missense mutations or in-frame deletion in DCDC2 in children affected with neonatal sclerosi. Mutations involve highly conserved amino acids in the doublecortin domains of the protein. In cholangiocytes, DCDC2 protein is normally located in the cytoplasm and cilia, whereas in patients the mutated protein is accumulated in the cytoplasm, absent from cilia, and associated with ciliogenesis defect. (PMID:27319779)
• that endogenous DYX1C1 localizes to the base of the cilium, whereas DCDC2 localizes along the entire axoneme of the cilium (PMID:27451412)
• Neonatal sclerosing cholangitis patients in substantial proportion harbour mutations in DCDC2. (PMID:27469900)
• Developmental dyslexia genetic (DCDC2) and environmental factors (smoke and miscarriage) underlie ADHD traits supporting a potential pleiotropic effect. (PMID:27501527)
• Study concludes that DCDC2 deletion is not a strong risk factor for dyslexia. (PMID:28742079)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dcdc2a	ENSMUSG00000035910
rattus_norvegicus	Dcdc2	ENSRNOG00000017511

Paralogs (2): DCDC2C (ENSG00000214866), DCDC2B (ENSG00000222046)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2652818) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased anxiety-related response	1
abnormal spatial learning	1
abnormal spatial working memory	1
impaired short-term object recognition memory	1

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.

Organism	UniProt	Identity	Method
Papio hamadryas	Q8MJ06	92.1%	Diamond
Saimiri boliviensis boliviensis	Q8MJ03	88.9%	Diamond
Bos taurus	Q8MJ05	66.8%	Diamond
Drosophila melanogaster	Q9VUI3	38.1%	Diamond
Caenorhabditis elegans	Q69Z08	37.5%	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).

Symbol	Type	Entrez
GPLD1	protein-coding	2822
KAAG1	ncRNA	353219
MRS2	protein-coding	57380
ALDH5A1	protein-coding	7915
NRSN1	protein-coding	140767
TDP2	protein-coding	51567
KIAA0319	protein-coding	9856

Protein

Protein identifiers

Doublecortin domain-containing protein 2 — Q9UHG0 (reviewed: Q9UHG0)

Alternative names: Protein RU2S

All UniProt accessions (2): Q9UHG0, H0Y784

UniProt curated annotations — full annotation on UniProt →

Function. Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex. Involved in the control of ciliogenesis and ciliary length.

Subunit / interactions. Interacts with DVL1, DVL2 and DVL3.

Subcellular location. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Cilium axoneme. Kinocilium.

Tissue specificity. Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus. Expressed in liver by cholangiocytes, the epithelial cells of the bile ducts (at protein level).

Disease relevance. Dyslexia 2 (DYX2) [MIM:600202] A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Disease susceptibility is associated with variants affecting the gene represented in this entry. Nephronophthisis 19 (NPHP19) [MIM:616217] A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis. The disease is caused by variants affecting the gene represented in this entry. Deafness, autosomal recessive, 66 (DFNB66) [MIM:610212] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry. Sclerosing cholangitis, neonatal (NSC) [MIM:617394] An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UHG0-1	1	yes
Q9UHG0-2	2

RefSeq proteins (2): NP_001182539, NP_057440* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003533	Doublecortin_dom	Domain
IPR033036	DCDC2_DCX_dom2	Domain
IPR036572	Doublecortin_dom_sf	Homologous_superfamily

Pfam: PF03607

UniProt features (32 total): sequence variant 7, strand 6, compositionally biased region 6, sequence conflict 3, helix 3, domain 2, splice variant 2, chain 1, modified residue 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
2DNF	Solution structure of RSGI RUH-062, a DCX domain from human	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHG0-F1	63.93	0.17

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins, Disease related genes, Human disease related genes, Congenital malformations, Congenital malformations of the urinary system, Ear disease

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; microtubules; acrosome; centriolar satellite; equatorial segment; mitotic spindle; principal piece

Antibody reliability (HPA): IH enhanced · IF approved

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 (1)

Type	Positions
Phosphoserine	270

Function

Pathways and Gene Ontology

Reactome pathways

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

MSigDB gene sets: 297 (showing top): GOBP_DENDRITE_DEVELOPMENT, AAGCAAT_MIR137, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOZGIT_ESR1_TARGETS_DN, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_DENDRITE_MORPHOGENESIS, GOBP_CILIUM_ORGANIZATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_ORGANELLE_ASSEMBLY, GOBP_NEURON_MIGRATION

GO Biological Process (11): neuron migration (GO:0001764), cellular defense response (GO:0006968), sensory perception of sound (GO:0007605), regulation of Wnt signaling pathway (GO:0030111), intracellular signal transduction (GO:0035556), positive regulation of smoothened signaling pathway (GO:0045880), dendrite morphogenesis (GO:0048813), cilium assembly (GO:0060271), regulation of cilium assembly (GO:1902017), nervous system development (GO:0007399), cell projection organization (GO:0030030)

GO Molecular Function (2): kinesin binding (GO:0019894), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), microtubule (GO:0005874), cilium (GO:0005929), axoneme (GO:0005930), kinocilium (GO:0060091), mitotic spindle (GO:0072686), cytoskeleton (GO:0005856)

GO top-level categories

46 GO namespaces:

Category	Terms
cellular anatomical structure	3
intracellular anatomical structure	2
microtubule cytoskeleton	2
cell migration	1
generation of neurons	1
defense response	1
sensory perception of mechanical stimulus	1
regulation of signal transduction	1
Wnt signaling pathway	1
signal transduction	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	1
dendrite development	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cilium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
system development	1
animal gross anatomical part developmental process	1
cellular component organization	1
cytoskeletal protein binding	1
binding	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
radial spoke	1
stereocilium bundle	1
neuron projection	1
organelle	1
9+2 non-motile cilium	1
spindle	1
intracellular membraneless organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 9 of 21 annotations. The rest are phylogenetic / computational / electronic (IEA).

9 experimentally-supported GO terms:

GO term	NS	Evidence
cilium assembly	BP	mutant phenotype
positive regulation of smoothened signaling pathway	BP	mutant phenotype
regulation of Wnt signaling pathway	BP	mutant phenotype
regulation of cilium assembly	BP	mutant phenotype
sensory perception of sound	BP	mutant phenotype
axoneme	CC	direct assay
cilium	CC	direct assay
cytoplasm	CC	direct assay
mitotic spindle	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 704 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCDC2	KIAA0319	Q5VV43	982
DCDC2	DNAAF4	Q8WXU2	970
DCDC2	KAAG1	Q9UBP8	909
DCDC2	ACOT13	Q9NPJ3	884
DCDC2	TDP2	O95551	851
DCDC2	GCFC2	P16383	719
DCDC2	ROBO1	Q9Y6N7	719
DCDC2	MRPL19	P49406	677
DCDC2	ATP2C2	O75185	632
DCDC2	CMIP	Q8IY22	629
DCDC2	KIAA0319L	Q8IZA0	592
DCDC2	FOXP2	O15409	553
DCDC2	MAGEA1	P43355	551
DCDC2	CNTNAP2	Q9UHC6	549
DCDC2	NRSN1	Q8IZ57	539

IntAct

Human interaction partners of DCDC2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

27 partners by confidence:

Partner	Interaction type	MIscore	Records
B3GNT5	physical association	0.560	3
C5AR2	physical association	0.560	3
CENPO	physical association	0.560	3
CKS1B	physical association	0.560	3
COMMD9	physical association	0.560	3
CYTH4	physical association	0.560	3
DYNC2LI1	physical association	0.560	3
DYNLT2	physical association	0.560	3
FAM118A	physical association	0.560	3
GNL3L	physical association	0.560	3
HORMAD1	physical association	0.560	3
KRTAP5-9	physical association	0.560	3
KRTAP9-3	physical association	0.560	3
LMO3	physical association	0.560	3
MGME1	physical association	0.560	3
MICALL2	physical association	0.560	3
MRFAP1	physical association	0.560	3
MYG1	physical association	0.560	3
NIF3L1	physical association	0.560	3
NMU	physical association	0.560	3
OXT	physical association	0.560	3
POP5	physical association	0.560	3
PTPRCAP	physical association	0.560	3
SLC38A2	physical association	0.560	3
TOLLIP	physical association	0.560	3
TRMT11	physical association	0.560	3
ZNF432	physical association	0.560	3

BioGRID (41 interactions; top human partners by supporting records): DCTN1 (Proximity Label-MS; 2 records), APP (Reconstituted Complex), B3GNT5 (Two-hybrid), CENPO (Two-hybrid), CKS1B (Two-hybrid), COMMD9 (Two-hybrid), DCAF15 (Proximity Label-MS), DCAF7 (Proximity Label-MS), DYNC2LI1 (Two-hybrid), EZH2 (Affinity Capture-MS), FAM118A (Two-hybrid), FBXW5 (Proximity Label-MS), FTL (Affinity Capture-MS), GCH1 (Affinity Capture-MS), KRTAP5-9 (Two-hybrid)

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
EHF	“down-regulates quantity by repression”	DCDC2	“transcriptional regulation”

Protein complexes (CORUM) (1)

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

1 complexes by size:

Complex	Subunits	Members
DCDC2-MAPK8IP1 complex	2	DCDC2, MAPK8IP1

Disease & clinical

Genetic variants

Variant evidence for DCDC2: 410 ClinVar records (30 pathogenic / likely pathogenic); 7 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	16
Uncertain significance	183
Likely benign	105
Benign	42

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 30 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
180688	NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	9
417769	NM_016356.5(DCDC2):c.529dup (p.Ile177fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	7
180689	NM_016356.5(DCDC2):c.349-2A>G	Pathogenic	criteria provided, multiple submitters, no conflicts	5
417768	NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
502281	NM_016356.5(DCDC2):c.294-2A>G	Pathogenic	criteria provided, multiple submitters, no conflicts	3
2634418	NM_016356.5(DCDC2):c.705-2A>G	Pathogenic	criteria provided, multiple submitters, no conflicts	3
593986	NM_016356.5(DCDC2):c.293dup (p.Asn98fs)	Pathogenic	criteria provided, single submitter	1
1162261	NM_016356.5(DCDC2):c.346G>T (p.Glu116Ter)	Pathogenic	criteria provided, single submitter	1
1687288	NM_016356.5(DCDC2):c.536_537del (p.Leu179fs)	Pathogenic	criteria provided, single submitter	1
1687593	NM_016356.5(DCDC2):c.557+1G>T	Pathogenic	criteria provided, single submitter	1
802191	NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter)	Likely pathogenic	criteria provided, single submitter	1
804454	NM_016356.5(DCDC2):c.549dup (p.Val184fs)	Likely pathogenic	criteria provided, single submitter	1
973531	NM_016356.5(DCDC2):c.923-283_1023+141del	Likely pathogenic	criteria provided, single submitter	1
1492885	NM_016356.5(DCDC2):c.426-2A>G	Likely pathogenic	criteria provided, single submitter	1
2629455	NM_016356.5(DCDC2):c.1155del (p.Glu386fs)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore DCDC2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 41 predictions of 1,288):

Position(s)	Effect	Δscore	Sites
6:24174835–24174836	acceptor_loss	1.0000	6
6:24177608	donor_gain	1.0000
6:24178334	donor_gain	1.0000
6:24178633–24178634	acceptor_loss	1.0000	6
6:24178643	acceptor_gain	1.0000
6:24205000–24205001	donor_loss	1.0000	5
6:24205103–24205104	acceptor_loss	1.0000	6
6:24278047–24278048	donor_loss	1.0000	5
6:24290930–24290931	donor_loss	1.0000	4
6:24291079–24291080	acceptor_loss	1.0000	6

AlphaMissense

705 missense substitutions predicted likely pathogenic (of 3,141 scored), across 189 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:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F94	8	0.967	0.999
F47	8	0.944	0.999
F59	8	0.918	0.997
D340	8	0.888	0.948
H72	8	0.790	0.981
N146	7	0.964	0.994
F44	7	0.963	0.984
E92	7	0.956	0.980
R63	7	0.955	0.997
W166	7	0.944	0.992
F215	7	0.933	0.988
F131	7	0.874	0.980
F142	7	0.873	0.980
F312	7	0.860	0.948
D148	7	0.856	0.939
H37	7	0.805	0.933
V87	6	0.994	0.998
G71	6	0.984	0.999
G60	6	0.968	0.995
Y99	6	0.967	0.999

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Kidney Renal Papillary Cell Carcinoma)

Disease associations

OMIM: gene MIM:605755 | disease phenotypes: MIM:246700, MIM:610212, MIM:617394, MIM:616217, MIM:600202

GenCC curated gene-disease

7 curated gene-disease records:

Disease	Classification	Inheritance	Records
ciliopathy	Definitive	Autosomal recessive	3
nephronophthisis 19	Strong	Autosomal recessive	3
isolated neonatal sclerosing cholangitis	Strong	Autosomal recessive	2
Senior-Boichis syndrome	Supportive	Autosomal recessive
hearing loss, autosomal recessive	Supportive	Autosomal recessive
autosomal recessive nonsyndromic hearing loss 66	Limited	Autosomal recessive	3
nonsyndromic genetic hearing loss	Limited	Autosomal recessive

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

2 validity classifications:

Disease	Classification	Inheritance
ciliopathy	Definitive	AR
nonsyndromic genetic hearing loss	Limited	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (10 panels, 3 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

10 panels:

Panel	Rating
Cholestasis	green
DDG2P	green
Neonatal cholestasis	green
Cystic renal disease	amber
Fetal anomalies	amber
Paediatric disorders	amber
Rare multisystem ciliopathy Super panel	amber
Renal ciliopathies	amber
Tubulointerstitial kidney disease	amber
Unexplained young onset end-stage renal disease	amber

Mondo (9): chylomicron retention disease (MONDO:0009528), autosomal recessive nonsyndromic hearing loss 66 (MONDO:0012442), isolated neonatal sclerosing cholangitis (MONDO:0018816), nephronophthisis 19 (MONDO:0014537), dyslexia, susceptibility to, 2 (MONDO:0010843), ciliopathy (MONDO:0005308), nonsyndromic genetic hearing loss (MONDO:0019497), Senior-Boichis syndrome (MONDO:0019394), hearing loss, autosomal recessive (MONDO:0019588)

Orphanet (4): Chylomicron retention disease (Orphanet:71), Isolated neonatal sclerosing cholangitis (Orphanet:480556), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Senior-Boichis syndrome (Orphanet:84081)

HPO phenotypes

58 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000076	Vesicoureteral reflux
HP:0000089	Renal hypoplasia
HP:0000090	Nephronophthisis
HP:0000108	Renal corticomedullary cysts
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000713	Agitation
HP:0000718	Aggressive behavior
HP:0000822	Hypertension
HP:0000952	Jaundice
HP:0000989	Pruritus
HP:0001256	Mild intellectual disability
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001396	Cholestasis
HP:0001399	Hepatic failure
HP:0001408	Bile duct proliferation
HP:0001409	Portal hypertension
HP:0001433	Hepatosplenomegaly
HP:0001541	Ascites
HP:0001744	Splenomegaly
HP:0001903	Anemia
HP:0001959	Polydipsia
HP:0002040	Esophageal varix
HP:0002240	Hepatomegaly
HP:0002500	Abnormal cerebral white matter morphology
HP:0002506	Diffuse cerebral atrophy
HP:0002612	Congenital hepatic fibrosis
HP:0002613	Biliary cirrhosis
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003573	Increased total bilirubin
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003676	Progressive
HP:0003774	Stage 5 chronic kidney disease
HP:0004719	Hyperechogenic kidneys
HP:0005565	Reduced renal corticomedullary differentiation
HP:0006563	Malformation of the hepatic ductal plate
HP:0006571	Reduced number of intrahepatic bile ducts
HP:0006580	Portal fibrosis
HP:0007018	Attention deficit hyperactivity disorder
HP:0011985	Acholic stools
HP:0012163	Carotid artery dilatation
HP:0012585	Renal atrophy
HP:0012591	Abnormal urinary electrolyte concentration
HP:0012622	Chronic kidney disease
HP:0012852	Hepatic bridging fibrosis
HP:0020132	Thickening of the tubular basement membrane
HP:0030948	Elevated gamma-glutamyltransferase level
HP:0030991	Sclerosing cholangitis
HP:0031589	Suicidal ideation
HP:0032581	Abnormal renal interstitial morphology
HP:0032622	Tubular luminal dilatation
HP:0032948	Renal interstitial fibrosis
HP:0034294	Ductal bile plugs

GWAS associations

7 associations:

Study	Trait	p-value
GCST006269_211	General cognitive ability	3e-10
GCST008058_233	Estimated glomerular filtration rate	1e-8
GCST007876_126	Estimated glomerular filtration rate	4e-8
GCST001621_5	Airflow obstruction	8e-7
GCST008060_17	Estimated glomerular filtration rate	2e-6
GCST000905_4	Information processing speed	3e-6
GCST000963_8	Uric acid levels	5e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0004363	information processing speed
EFO:0004761	uric acid measurement
EFO:0003892	pulmonary function measurement
EFO:0004337	intelligence

MeSH disease descriptors

4 disease descriptors:

Descriptor	Name	Tree numbers
C535460	Chylomicron retention disease *(supp.)*
C564609	Deafness, Autosomal Recessive *(supp.)*
C565701	Deafness, Autosomal Recessive 66 *(supp.)*
C580334	Nonsyndromic Deafness *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression, increases methylation	5
bisphenol A	affects expression, affects methylation	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
3,4,3’,4’-tetrachlorobiphenyl	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
celastrol	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
belinostat	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Zoledronic Acid	decreases expression	1
Leflunomide	affects expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression	1
Azathioprine	decreases expression	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lead	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methapyrilene	increases methylation	1
Quercetin	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D7NG	Ubigene A-549 DCDC2 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

4 trials:

NCT	Phase	Status	Title
NCT00068224	Not specified	COMPLETED	Clinical and Molecular Investigations Into Ciliopathies
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations
NCT05208879	Not specified	COMPLETED	CArotenoid in hypoChOlesterolemia