DCDC2C

Summary

DCDC2C (doublecortin domain containing 2C, HGNC:32696) is a protein-coding gene on chromosome 2p25.3, encoding Doublecortin domain-containing protein 2C (A8MYV0).

Predicted to be involved in intracellular signal transduction. Located in cytoplasm and sperm flagellum.

Source: NCBI Gene 728597 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001287444

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32696
Approved symbol	DCDC2C
Name	doublecortin domain containing 2C
Location	2p25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214866
Ensembl biotype	protein_coding
Entrez	728597

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000399143, ENST00000451101, ENST00000537457

RefSeq mRNA: 2 — MANE Select: NM_001287444 NM_001287444, NM_001365580

CCDS: CCDS74481

Canonical transcript exons

ENST00000399143 — 11 exons

Exon	Start	End
ENSE00001536671	3754592	3754634
ENSE00001536672	3752763	3752900
ENSE00001629839	3741920	3742048
ENSE00001718885	3708549	3708600
ENSE00003500850	3767754	3767880
ENSE00003548135	3769311	3769411
ENSE00003619100	3727003	3727079
ENSE00003712139	3778816	3778884
ENSE00003721176	3847154	3848008
ENSE00003728828	3703575	3704038
ENSE00003738937	3785059	3785100

Expression profiles

Bgee: expression breadth ubiquitous, 109 present calls, max score 80.66.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0038 / max 2.6861, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
202065	0.0038	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	80.66	gold quality
left testis	UBERON:0004533	79.05	gold quality
tibial nerve	UBERON:0001323	78.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.22	gold quality
testis	UBERON:0000473	78.15	gold quality
right testis	UBERON:0004534	77.26	gold quality
ascending aorta	UBERON:0001496	69.33	gold quality
thoracic aorta	UBERON:0001515	69.14	gold quality
descending thoracic aorta	UBERON:0002345	67.51	gold quality
right coronary artery	UBERON:0001625	64.29	gold quality
popliteal artery	UBERON:0002250	63.45	gold quality
tibial artery	UBERON:0007610	63.42	gold quality
prostate gland	UBERON:0002367	60.76	gold quality
mucosa of stomach	UBERON:0001199	60.72	gold quality
pituitary gland	UBERON:0000007	60.60	gold quality
left coronary artery	UBERON:0001626	59.75	gold quality
adenohypophysis	UBERON:0002196	59.28	gold quality
thyroid gland	UBERON:0002046	53.61	gold quality
left lobe of thyroid gland	UBERON:0001120	53.51	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	52.80	gold quality
cortical plate	UBERON:0005343	52.63	gold quality
endocervix	UBERON:0000458	52.33	gold quality
primary visual cortex	UBERON:0002436	52.15	gold quality
nucleus accumbens	UBERON:0001882	51.18	gold quality
fundus of stomach	UBERON:0001160	50.51	gold quality
lower esophagus muscularis layer	UBERON:0035833	50.38	gold quality
lower esophagus	UBERON:0013473	50.27	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	50.23	silver quality
thoracic mammary gland	UBERON:0005200	49.84	gold quality
left ovary	UBERON:0002119	49.81	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-30	yes	19347.57
E-GEOD-180759	yes	12066.41
E-ANND-3	no	3.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting DCDC2C, 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-3662	99.99	73.82	5684
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-6802-3P	97.29	65.42	613
HSA-MIR-4633-3P	93.85	63.56	534
HSA-MIR-6500-5P	93.85	63.64	522

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dcdc2c	ENSMUSG00000020633
rattus_norvegicus	Dcdc2c	ENSRNOG00000067604

Paralogs (2): DCDC2 (ENSG00000146038), DCDC2B (ENSG00000222046)

Protein

Protein identifiers

Doublecortin domain-containing protein 2C — A8MYV0 (reviewed: A8MYV0)

All UniProt accessions (1): A8MYV0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell projection. Cilium. Flagellum. Cytoplasm.

Tissue specificity. Expressed in testis and spermatozoa (at protein level).

RefSeq proteins (2): NP_001274373, NP_001352509 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003533	Doublecortin_dom	Domain
IPR036572	Doublecortin_dom_sf	Homologous_superfamily

Pfam: PF03607

UniProt features (4 total): domain 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MYV0-F1	70.53	0.20

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): chr2p25, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_MOTILE_CILIUM, GOCC_CILIUM, CHEN_METABOLIC_SYNDROM_NETWORK, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER, FOXN3_TARGET_GENES, GSE13306_RA_VS_UNTREATED_MEM_CD4_TCELL_DN, MIR3151_5P, MIR6802_3P, DESCARTES_MAIN_FETAL_THYMIC_EPITHELIAL_CELLS, DESCARTES_FETAL_ADRENAL_STROMAL_CELLS

GO Biological Process (1): intracellular signal transduction (GO:0035556)

GO Molecular Function (0):

GO Cellular Component (7): cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), microtubule (GO:0005874), sperm flagellum (GO:0036126), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular anatomical structure	2
microtubule cytoskeleton	2
signal transduction	1
polymeric cytoskeletal fiber	1
9+2 motile cilium	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

363 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCDC2C	DNAAF4	Q8WXU2	608
DCDC2C	KIAA0319	Q5VV43	550
DCDC2C	EIPR1	Q53HC9	513
DCDC2C	KLHL23	Q8NBE8	506
DCDC2C	TRAPPC12	Q8WVT3	485
DCDC2C	ATP2C2	O75185	475
DCDC2C	CMIP	Q8IY22	461
DCDC2C	RNF144A	P50876	430
DCDC2C	NAGPA	Q9UK23	424
DCDC2C	GNPTG	Q9UJJ9	402
DCDC2C	FMR1	Q06787	397
DCDC2C	POT1	Q9NUX5	384
DCDC2C	SNX16	P57768	381
DCDC2C	GNPTAB	Q3T906	380
DCDC2C	ACTR10	Q9NZ32	375

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ZNF426	DCDC2C	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A4FV61, A8MYV0, D3ZR10, G9CGD6, M0R2J8, O54828, O60543, O70302, O75916, O88974, P17863, P28715, P35689, P49805, P55265, P55266, Q02040, Q15047, Q3B7M3, Q3UY96, Q5DU00, Q5EAN7, Q5F3L9, Q5R6F3, Q5T848, Q5VT97, Q642B6, Q68D51, Q69Z99, Q6P3Z3, Q6P9P8, Q7TPQ3, Q8C4S8, Q8K0Q5, Q8N392, Q8NE31, Q8TEW8, Q8WY91, Q91VL8, Q95JV5

Diamond homologs: A2VCK2, A8MYV0, D3ZR10, Q5DU00, Q9D1B8, Q9UHG0, Q9VUI3, P56715, P56716, Q550F6, Q69Z08, Q8CGM2, Q8IWN7, Q8MJ03, Q8MJ04, Q8MJ05, Q8MJ06, D2I3C6, O15075, O43602, O88809, Q5MPA9, Q6PGN3, Q8N568, Q95QC4, Q9JLM8, Q9ESI7, B4GXC2, B5DK35, C0H4E4, B3NKK1, Q7PLI7, B4IMC3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

3330 predictions. Top by Δscore:

Variant	Effect	Δscore
2:3704036:CGAGT:C	donor_loss	1.0000
2:3704037:GA:G	donor_gain	1.0000
2:3704038:AGTA:A	donor_loss	1.0000
2:3704039:G:GG	donor_gain	1.0000
2:3704039:G:T	donor_loss	1.0000
2:3704040:T:G	donor_loss	1.0000
2:3708544:TGCA:T	acceptor_loss	1.0000
2:3708545:GCAG:G	acceptor_loss	1.0000
2:3708547:A:AG	acceptor_gain	1.0000
2:3708547:AGTT:A	acceptor_loss	1.0000
2:3708548:G:GT	acceptor_gain	1.0000
2:3708548:GT:G	acceptor_gain	1.0000
2:3708548:GTT:G	acceptor_gain	1.0000
2:3708548:GTTA:G	acceptor_gain	1.0000
2:3708548:GTTAT:G	acceptor_gain	1.0000
2:3708588:G:GT	donor_gain	1.0000
2:3708597:GGAA:G	donor_gain	1.0000
2:3708598:GAA:G	donor_gain	1.0000
2:3708598:GAAG:G	donor_gain	1.0000
2:3708601:G:GG	donor_gain	1.0000
2:3727080:G:GG	donor_gain	1.0000
2:3742046:G:GT	donor_gain	1.0000
2:3742046:GAA:G	donor_gain	1.0000
2:3742049:G:GG	donor_gain	1.0000
2:3752868:G:GT	donor_gain	1.0000
2:3752901:G:GG	donor_gain	1.0000
2:3767928:GC:G	donor_gain	1.0000
2:3769306:CCCA:C	acceptor_loss	1.0000
2:3769307:CCA:C	acceptor_loss	1.0000
2:3769308:CA:C	acceptor_loss	1.0000

AlphaMissense

2382 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:3752828:T:A	V204D	0.997
2:3752765:T:C	L183S	0.996
2:3741922:T:A	V140D	0.995
2:3752807:T:C	L197S	0.994
2:3752831:C:A	A205D	0.993
2:3703820:C:A	N23K	0.990
2:3703820:C:G	N23K	0.990
2:3703822:G:T	G24V	0.990
2:3704001:T:G	Y84D	0.989
2:3741925:T:C	F141S	0.989
2:3741932:T:A	N143K	0.989
2:3741932:T:G	N143K	0.989
2:3704001:T:C	Y84H	0.988
2:3741924:T:C	F141L	0.988
2:3741926:T:A	F141L	0.988
2:3741926:T:G	F141L	0.988
2:3752824:T:G	Y203D	0.988
2:3703840:G:A	G30D	0.987
2:3741967:T:A	I155K	0.986
2:3703812:T:G	Y21D	0.985
2:3703810:T:A	V20E	0.984
2:3703821:G:T	G24W	0.984
2:3704002:A:C	Y84S	0.984
2:3704008:C:A	A86E	0.984
2:3708550:T:C	Y97H	0.983
2:3703804:T:A	I18N	0.981
2:3703819:A:T	N23I	0.981
2:3703939:T:A	L63H	0.981
2:3704004:G:A	V85M	0.980
2:3741967:T:G	I155R	0.980

dbSNP variants (sampled 300 via entrez): RS1000012832 (2:3747170 G>A), RS1000025294 (2:3810153 C>T), RS1000034565 (2:3755492 G>A,C), RS1000048449 (2:3726793 C>A), RS1000102758 (2:3791191 T>A,C), RS1000121210 (2:3774816 G>A), RS1000147495 (2:3794403 T>C), RS1000154773 (2:3804784 T>C), RS1000199359 (2:3710123 G>T), RS1000208633 (2:3788368 G>A), RS1000242083 (2:3720366 C>T), RS1000260880 (2:3816810 A>C), RS1000278016 (2:3757701 G>A), RS1000284707 (2:3809800 G>A), RS1000294287 (2:3721456 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:277400

GenCC curated gene-disease

Mondo (1): methylmalonic aciduria and homocystinuria type cblC (MONDO:0010184)

Orphanet (2): Methylmalonic acidemia with homocystinuria (Orphanet:26), Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001762_148	Obesity-related traits	2.000000e-06
GCST005042_2	Restless legs syndrome	1.000000e-34
GCST009698_80	Metabolite levels	7.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
N-(1,3-dimethylbutyl)-N’-phenyl-1,4-phenylenediamine	affects response to substance	1
sodium arsenite	increases expression	1
abrine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Thiram	increases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns