DRC12

Summary

DRC12 (dynein regulatory complex subunit 12 homolog, HGNC:27446) is a protein-coding gene on chromosome 11q23.3, encoding Dynein regulatory complex protein 12 (Q494R4). Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

Enables identical protein binding activity. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium.

Source: NCBI Gene 283152 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 31 total — 1 pathogenic
• MANE Select transcript: NM_001145018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27446
Approved symbol	DRC12
Name	dynein regulatory complex subunit 12 homolog
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	LOC283152
Ensembl gene	ENSG00000248712
Ensembl biotype	protein_coding
Entrez	283152

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 retained_intron

ENST00000375140, ENST00000415318, ENST00000447948, ENST00000503566, ENST00000902924, ENST00000902925, ENST00000902926, ENST00000902927, ENST00000927899, ENST00000927900, ENST00000927901, ENST00000927902, ENST00000927903

RefSeq mRNA: 1 — MANE Select: NM_001145018 NM_001145018

CCDS: CCDS44753

Canonical transcript exons

ENST00000503566 — 7 exons

Exon	Start	End
ENSE00002086084	119190254	119190452
ENSE00002295360	119193151	119193243
ENSE00002317507	119193766	119193885
ENSE00003501452	119194923	119194994
ENSE00003611415	119190710	119190840
ENSE00003657704	119195424	119195499
ENSE00003932052	119195799	119195841

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 94.87.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3145 / max 14.5930, expressed in 175 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122695	0.3145	175

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.87	gold quality
bronchial epithelial cell	CL:0002328	91.65	gold quality
bronchus	UBERON:0002185	89.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.56	gold quality
oviduct epithelium	UBERON:0004804	81.11	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.04	gold quality
fallopian tube	UBERON:0003889	78.29	gold quality
mucosa of paranasal sinus	UBERON:0005030	77.33	gold quality
adenohypophysis	UBERON:0002196	75.89	gold quality
pituitary gland	UBERON:0000007	75.40	gold quality
nasal cavity epithelium	UBERON:0005384	75.04	silver quality
left testis	UBERON:0004533	74.42	gold quality
epithelium of nasopharynx	UBERON:0001951	73.92	silver quality
right testis	UBERON:0004534	73.74	gold quality
nasal cavity mucosa	UBERON:0001826	73.04	gold quality
tendon of biceps brachii	UBERON:0008188	72.67	gold quality
testis	UBERON:0000473	72.29	gold quality
granulocyte	CL:0000094	72.27	gold quality
lower esophagus mucosa	UBERON:0035834	71.86	gold quality
leukocyte	CL:0000738	70.91	gold quality
monocyte	CL:0000576	70.84	gold quality
right lung	UBERON:0002167	70.24	gold quality
buccal mucosa cell	CL:0002336	69.47	gold quality
germinal epithelium of ovary	UBERON:0001304	69.26	gold quality
tibial artery	UBERON:0007610	67.95	gold quality
popliteal artery	UBERON:0002250	67.93	gold quality
omental fat pad	UBERON:0010414	67.35	gold quality
peritoneum	UBERON:0002358	67.34	gold quality
left uterine tube	UBERON:0001303	67.32	gold quality
hypothalamus	UBERON:0001898	67.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	61.74
E-HCAD-1	yes	26.53
E-ANND-3	yes	9.27

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc153	ENSMUSG00000070306
rattus_norvegicus	Drc12	ENSRNOG00000039086

Protein

Protein identifiers

Dynein regulatory complex protein 12 — Q494R4 (reviewed: Q494R4)

Alternative names: Coiled-coil domain-containing protein 153, Dynein regulatory complex subunit 12 homolog

All UniProt accessions (1): Q494R4

UniProt curated annotations — full annotation on UniProt →

Function. Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

Subunit / interactions. Component of the nexin-dynein regulatory complex (N-DRC).

Subcellular location. Cytoplasm. Cytoskeleton. Flagellum axoneme.

Similarity. Belongs to the DRC12 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q494R4-1	1	yes
Q494R4-2	2

RefSeq proteins (1): NP_001138490* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033585	DRC12-like	Family

UniProt features (7 total): region of interest 2, chain 1, coiled-coil region 1, compositionally biased region 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q494R4-F1	88.66	0.74

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, NUYTTEN_EZH2_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, PRKDC_TARGET_GENES, ZNF350_TARGET_GENES, ZNF766_TARGET_GENES, GSE13485_DAY3_VS_DAY7_YF17D_VACCINE_PBMC_UP, GSE14350_IL2RB_KO_VS_WT_TEFF_DN, DURANTE_ADULT_OLFACTORY_NEUROEPITHELIUM_RESPIRATORY_CILIATED_CELLS, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_DN, TRAVAGLINI_LUNG_CILIATED_CELL, TRAVAGLINI_LUNG_PROXIMAL_CILIATED_CELL, HE_LIM_SUN_FETAL_LUNG_C0_LATE_MESOTHELIAL_CELL

GO Biological Process (0):

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytoskeleton (GO:0005856), 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	2
protein binding	1
binding	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

168 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRC12	CFAP263	Q9H0I3	626
DRC12	LYPD2	Q6UXB3	577
DRC12	MLF1	P58340	572
DRC12	DAPL1	A0PJW8	557
DRC12	LZTFL1	Q9NQ48	524
DRC12	FOXI1	Q12951	519
DRC12	ASCL3	Q9NQ33	483
DRC12	KRT4	P19013	438
DRC12	TPPP3	Q9BW30	414
DRC12	SCGB3A2	Q96PL1	397
DRC12	CYP2F1	P24903	369
DRC12	RNF26	Q9BY78	349
DRC12	CFAP300	Q9BRQ4	348
DRC12	TXLNB	Q8N3L3	336
DRC12	TMEM212	A6NML5	306

IntAct

20 interactions, top by confidence:

A	B	Type	Score
GORASP2	DRC12	psi-mi:“MI:0915”(physical association)	0.670
DRC12	GORASP2	psi-mi:“MI:0915”(physical association)	0.670
DRC12	NECAB2	psi-mi:“MI:0915”(physical association)	0.560
DRC12	DDIT3	psi-mi:“MI:0915”(physical association)	0.560
NUP62	DRC12	psi-mi:“MI:0915”(physical association)	0.560
CDR2	DRC12	psi-mi:“MI:0915”(physical association)	0.560
DRC12	DTNBP1	psi-mi:“MI:0915”(physical association)	0.560
NECAB2	DRC12	psi-mi:“MI:0915”(physical association)	0.560
DRC12	CDR2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (21): CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid), CCDC153 (Two-hybrid)

ESM2 similar proteins: A1A5D9, A1L3T7, A4FV37, A6NC98, A6NJZ7, A6NNM3, O15049, P0C7N4, P0CW27, P58660, Q0P5D1, Q1HGE8, Q2NL23, Q3LUD3, Q3UPH7, Q494R4, Q4QRL3, Q5JYT7, Q5ND29, Q5XIS1, Q64697, Q6QZQ4, Q6UXH0, Q6ZS72, Q7Z6P3, Q8BLS7, Q8C2K5, Q8C7U1, Q8CB62, Q8CB87, Q8CHW5, Q8N137, Q8R1L8, Q8TE77, Q8TER5, Q91VJ2, Q969G5, Q96EN9, Q96FF7, Q96LX7

Diamond homologs: A8KB59, Q0P5D1, Q494R4, P0C7Q1, Q5FVL4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	24
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3244710	NC_000011.9:g.(?118007742)(119170491_?)del	Pathogenic

SpliceAI

1107 predictions. Top by Δscore:

Variant	Effect	Δscore
11:119190479:A:T	acceptor_gain	1.0000
11:119190708:A:AC	donor_gain	1.0000
11:119190709:C:CC	donor_gain	1.0000
11:119193275:C:T	acceptor_gain	1.0000
11:119193275:CAGGT:C	acceptor_gain	1.0000
11:119193276:A:T	acceptor_gain	1.0000
11:119193279:T:TC	acceptor_gain	1.0000
11:119190478:C:CT	acceptor_gain	0.9900
11:119190702:GTGCT:G	donor_loss	0.9900
11:119190703:TGCTT:T	donor_loss	0.9900
11:119190704:GCTT:G	donor_loss	0.9900
11:119190705:CT:C	donor_loss	0.9900
11:119190706:TT:T	donor_loss	0.9900
11:119190707:T:TG	donor_loss	0.9900
11:119190708:A:AG	donor_loss	0.9900
11:119190709:C:T	donor_loss	0.9900
11:119190720:T:A	donor_gain	0.9900
11:119190730:T:TA	donor_gain	0.9900
11:119190836:TGCCT:T	acceptor_gain	0.9900
11:119190839:CT:C	acceptor_gain	0.9900
11:119190841:C:CC	acceptor_gain	0.9900
11:119190848:C:CT	acceptor_gain	0.9900
11:119190849:A:T	acceptor_gain	0.9900
11:119190852:C:CT	acceptor_gain	0.9900
11:119190853:A:T	acceptor_gain	0.9900
11:119190856:A:C	acceptor_gain	0.9900
11:119193150:CCTAG:C	donor_gain	0.9900
11:119193274:CCAGG:C	acceptor_gain	0.9900
11:119193279:T:C	acceptor_gain	0.9900
11:119193285:A:AC	acceptor_gain	0.9900

AlphaMissense

1364 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:119193239:C:A	M87I	0.746
11:119193239:C:G	M87I	0.746
11:119193239:C:T	M87I	0.746
11:119190402:C:A	W177C	0.720
11:119190402:C:G	W177C	0.720
11:119194949:T:A	E37V	0.710
11:119190447:A:C	S162R	0.696
11:119190447:A:T	S162R	0.696
11:119190449:T:G	S162R	0.696
11:119193859:C:G	A55P	0.695
11:119193240:A:G	M87T	0.649
11:119193234:C:G	R89P	0.608
11:119190717:A:G	I158T	0.601
11:119190737:C:A	M151I	0.600
11:119190737:C:G	M151I	0.600
11:119190737:C:T	M151I	0.600
11:119193774:A:T	I83K	0.596
11:119190348:A:C	F195L	0.581
11:119190348:A:T	F195L	0.581
11:119190350:A:G	F195L	0.581
11:119193864:C:G	R53P	0.570

dbSNP variants (sampled 300 via entrez): RS1000176398 (11:119190517 T>C), RS1000483488 (11:119192995 G>A,T), RS1000858558 (11:119197753 C>G), RS1001570765 (11:119193738 C>T), RS1002195650 (11:119192461 T>C), RS1003318057 (11:119195311 A>G), RS1004265659 (11:119195889 C>A), RS1004494468 (11:119195684 C>G), RS1004800970 (11:119192417 A>T), RS1005092152 (11:119194376 G>C), RS1005332819 (11:119195207 G>C), RS1005758300 (11:119197033 A>G,T), RS1005869242 (11:119191084 C>T), RS1006668192 (11:119189786 T>A,C), RS1006747649 (11:119193958 C>T)

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

2 associations (top):

Study	Trait	p-value
GCST004607_34	Plateletcrit	1.000000e-57
GCST90002388_546	Lymphocyte count	9.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance, increases expression	2
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
Glyphosate	increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	increases methylation	1
Estradiol	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
2,4-Dichlorophenoxyacetic Acid	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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