DRC7

Summary

DRC7 (dynein regulatory complex subunit 7, HGNC:25289) is a protein-coding gene on chromosome 16q21, encoding Dynein regulatory complex subunit 7 (Q8IY82). 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.

Predicted to be involved in sperm axoneme assembly. Located in cytoplasm.

Source: NCBI Gene 84229 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 152 total
• MANE Select transcript: NM_001289162

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25289
Approved symbol	DRC7
Name	dynein regulatory complex subunit 7
Location	16q21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434I099, FAP50, CFAP50
Ensembl gene	ENSG00000159625
Ensembl biotype	protein_coding
OMIM	618769
Entrez	84229

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 13 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000336825, ENST00000360716, ENST00000394337, ENST00000562250, ENST00000563126, ENST00000564132, ENST00000564297, ENST00000565609, ENST00000569167, ENST00000569375, ENST00000871946, ENST00000871947, ENST00000871948, ENST00000949575, ENST00000949576

RefSeq mRNA: 3 — MANE Select: NM_001289162 NM_001289162, NM_001289163, NM_032269

CCDS: CCDS10787, CCDS73894

Canonical transcript exons

ENST00000360716 — 19 exons

Exon	Start	End
ENSE00001046723	57701936	57702130
ENSE00001288839	57726832	57726942
ENSE00001288907	57707460	57707678
ENSE00001289011	57697913	57698152
ENSE00001291536	57704876	57705034
ENSE00001295809	57721667	57721739
ENSE00001301699	57723002	57723130
ENSE00001303281	57726068	57726283
ENSE00001304502	57698850	57699024
ENSE00001316666	57718347	57718475
ENSE00001317779	57722713	57722841
ENSE00001324682	57724615	57724835
ENSE00001329402	57727299	57727409
ENSE00001418601	57696464	57696594
ENSE00002583758	57731165	57731805
ENSE00002618065	57694806	57694852
ENSE00003471385	57730931	57731070
ENSE00003619687	57700145	57700270
ENSE00003634201	57728390	57728584

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 94.26.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4026 / max 156.0754, expressed in 135 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154416	0.4026	135

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.26	gold quality
bronchial epithelial cell	CL:0002328	92.88	gold quality
bronchus	UBERON:0002185	91.52	gold quality
left testis	UBERON:0004533	90.82	gold quality
right testis	UBERON:0004534	89.84	gold quality
testis	UBERON:0000473	88.31	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.76	silver quality
sperm	CL:0000019	81.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.19	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.06	gold quality
nasal cavity epithelium	UBERON:0005384	74.15	gold quality
fallopian tube	UBERON:0003889	73.67	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	71.93	gold quality
oviduct epithelium	UBERON:0004804	70.99	gold quality
kidney epithelium	UBERON:0004819	70.87	gold quality
adult organism	UBERON:0007023	70.27	silver quality
cerebellar vermis	UBERON:0004720	70.07	gold quality
epithelial cell of pancreas	CL:0000083	68.81	gold quality
cardiac muscle of right atrium	UBERON:0003379	67.93	gold quality
left ventricle myocardium	UBERON:0006566	67.85	gold quality
epithelium of nasopharynx	UBERON:0001951	67.64	silver quality
upper arm skin	UBERON:0004263	65.66	gold quality
oocyte	CL:0000023	65.50	silver quality
islet of Langerhans	UBERON:0000006	65.31	gold quality
nasal cavity mucosa	UBERON:0001826	65.23	gold quality
quadriceps femoris	UBERON:0001377	65.09	gold quality
vastus lateralis	UBERON:0001379	64.68	gold quality
gingival epithelium	UBERON:0001949	64.08	gold quality
right lung	UBERON:0002167	63.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting DRC7, 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-574-5P	100.00	66.01	989
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-647	97.73	67.79	927
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4741	97.69	64.14	883
HSA-MIR-4675	97.69	64.82	774
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-6750-5P	93.94	66.68	797
HSA-MIR-6822-5P	93.94	66.34	812

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc135	ENSDARG00000100231
mus_musculus	Drc7	ENSMUSG00000031786
rattus_norvegicus	Drc7	ENSRNOG00000025860

Protein

Protein identifiers

Dynein regulatory complex subunit 7 — Q8IY82 (reviewed: Q8IY82)

Alternative names: Coiled-coil domain-containing protein 135, Coiled-coil domain-containing protein lobo homolog

All UniProt accessions (7): Q8IY82, H3BN79, H3BQY5, H3BRN2, H3BRR8, H3BRX1, H3BUK0

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. Involved in the regulation of flagellar motility. Essential for male fertility, sperm head morphogenesis and sperm flagellum formation.

Subunit / interactions. Component of the nexin-dynein regulatory complex (N-DRC). Interacts with DRC5. Interacts with DRC3 and DRC4.

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

Similarity. Belongs to the DRC7 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IY82-1	1	yes
Q8IY82-2	2

RefSeq proteins (3): NP_001276091, NP_001276092, NP_115645 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033551	DRC7/lobo	Family
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR056290	CEPT76/DRC7_peptidase-like_dom	Domain
IPR056291	MORN_DRC7	Domain
IPR056292	DRC7_C	Domain

Pfam: PF24656, PF24667, PF24671

UniProt features (18 total): sequence variant 8, coiled-coil region 4, compositionally biased region 2, chain 1, region of interest 1, sequence conflict 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IY82-F1	82.69	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 66 (showing top): GOBP_MALE_GAMETE_GENERATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, chr16q21, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, MODULE_95, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM

GO Biological Process (4): spermatogenesis (GO:0007283), sperm axoneme assembly (GO:0007288), flagellated sperm motility (GO:0030317), cell differentiation (GO:0030154)

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

GO Cellular Component (6): cytoplasm (GO:0005737), axoneme (GO:0005930), motile cilium (GO:0031514), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
developmental process involved in reproduction	2
male gamete generation	1
axoneme assembly	1
sperm flagellum assembly	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
cellular developmental process	1
binding	1
intracellular anatomical structure	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

820 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRC7	DRC2	Q8IXS2	829
DRC7	DRC5	Q5JU00	818
DRC7	DRC4	O95995	803
DRC7	DRC1	Q96MC2	761
DRC7	DRC9	Q9H095	706
DRC7	CCDC40	Q4G0X9	702
DRC7	ODAD4	Q96NG3	698
DRC7	DRC3	Q9H069	671
DRC7	CCDC39	Q9UFE4	656
DRC7	CFAP263	Q9H0I3	644
DRC7	FBXL13	Q8NEE6	639
DRC7	DRC11	Q86XH1	622
DRC7	DRC8	Q5VUJ9	583
DRC7	RSPH6A	Q9H0K4	573
DRC7	CCDC33	Q8N5R6	561

IntAct

17 interactions, top by confidence:

A	B	Type	Score
DRC7	MBIP	psi-mi:“MI:0915”(physical association)	0.560
MBIP	DRC7	psi-mi:“MI:0915”(physical association)	0.560
EFHC2	DRC7	psi-mi:“MI:0915”(physical association)	0.560
CALR	DRC7	psi-mi:“MI:0915”(physical association)	0.560
DRC7	DLST	psi-mi:“MI:0915”(physical association)	0.560
DRC7	NEK7	psi-mi:“MI:0915”(physical association)	0.560
PYCARD	MYO1C	psi-mi:“MI:0914”(association)	0.350
DRC7	EFHC2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): DRC7 (Two-hybrid), DRC7 (Affinity Capture-MS), EFHC2 (Two-hybrid), DRC7 (Protein-RNA), DRC7 (Proximity Label-MS), DRC7 (Affinity Capture-MS), OPA1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0L0P4F8, A0A7J6K9S4, A2BIL7, A5PF44, A6H7C9, A7S7F2, A8DZJ1, A8WP66, B3MJV4, B4GH42, B4HWV2, B4JE52, B4MV81, B4Q9T2, B5E0H4, G2HE57, O88379, P04786, P07799, P13864, P26358, Q0V9S9, Q12830, Q24K09, Q27746, Q2T9M4, Q4V516, Q4V8Z3, Q64749, Q6BER5, Q6V3W6, Q80Y56, Q8CDA1, Q8IY82, Q92072, Q95JL1, Q96LK0, Q99PI5, Q9CQA8, Q9H1K0

Diamond homologs: G2HE57, Q0V9S9, Q2T9M4, Q6V3W6, Q8IY82, Q95JL1, A7E2V1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DRC7	“form complex”	“Nexin-dynein regulatory complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	136
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3200 predictions. Top by Δscore:

Variant	Effect	Δscore
16:57699012:GT:G	donor_gain	1.0000
16:57699016:G:GT	donor_gain	1.0000
16:57699021:GCCC:G	donor_gain	1.0000
16:57699025:G:GG	donor_gain	1.0000
16:57700140:TGCA:T	acceptor_loss	1.0000
16:57700142:CAG:C	acceptor_loss	1.0000
16:57700143:A:AG	acceptor_gain	1.0000
16:57700143:AGA:A	acceptor_loss	1.0000
16:57700144:G:GT	acceptor_gain	1.0000
16:57700144:GA:G	acceptor_gain	1.0000
16:57700144:GAA:G	acceptor_gain	1.0000
16:57700144:GAAGT:G	acceptor_gain	1.0000
16:57700266:AGCCG:A	donor_gain	1.0000
16:57700267:GCCG:G	donor_gain	1.0000
16:57700267:GCCGG:G	donor_gain	1.0000
16:57700268:CCGGT:C	donor_loss	1.0000
16:57700270:GGTA:G	donor_loss	1.0000
16:57700271:G:GG	donor_gain	1.0000
16:57700272:T:A	donor_loss	1.0000
16:57702128:G:GT	donor_gain	1.0000
16:57704866:T:TA	acceptor_gain	1.0000
16:57704867:G:A	acceptor_gain	1.0000
16:57705013:G:GT	donor_gain	1.0000
16:57705014:G:T	donor_gain	1.0000
16:57705017:G:GT	donor_gain	1.0000
16:57707658:G:GT	donor_gain	1.0000
16:57707666:G:GT	donor_gain	1.0000
16:57718341:CAACA:C	acceptor_loss	1.0000
16:57718344:CA:C	acceptor_loss	1.0000
16:57718345:A:G	acceptor_loss	1.0000

AlphaMissense

5811 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:57718380:T:A	W371R	0.999
16:57718380:T:C	W371R	0.999
16:57707511:T:A	W304R	0.998
16:57707511:T:C	W304R	0.998
16:57707625:T:A	W342R	0.998
16:57707625:T:C	W342R	0.998
16:57718382:G:C	W371C	0.998
16:57718382:G:T	W371C	0.998
16:57700154:A:C	S130R	0.997
16:57700156:C:A	S130R	0.997
16:57700156:C:G	S130R	0.997
16:57702021:T:C	L197P	0.997
16:57718381:G:C	W371S	0.997
16:57721709:T:A	W417R	0.997
16:57721709:T:C	W417R	0.997
16:57730944:T:C	L802P	0.997
16:57698981:G:C	R112P	0.996
16:57702057:G:A	G209D	0.996
16:57731061:G:C	R841P	0.996
16:57701999:A:C	S190R	0.995
16:57702001:T:A	S190R	0.995
16:57702001:T:G	S190R	0.995
16:57702021:T:A	L197H	0.995
16:57731030:G:C	A831P	0.995
16:57731064:T:C	L842P	0.995
16:57698980:C:A	R112S	0.994
16:57702051:T:A	V207D	0.994
16:57707515:T:A	V305D	0.994
16:57707619:A:C	S340R	0.994
16:57707621:C:A	S340R	0.994

dbSNP variants (sampled 300 via entrez): RS1000275564 (16:57708428 T>C), RS1000327252 (16:57707999 C>T), RS1000621477 (16:57701169 C>T), RS1000635484 (16:57721848 A>C), RS1000791692 (16:57727670 G>T), RS1001011031 (16:57696790 T>G), RS1001040752 (16:57696578 G>A), RS1001127902 (16:57695341 G>A,T), RS1001447351 (16:57707726 T>G), RS1001545487 (16:57707671 G>A), RS1001622792 (16:57714468 T>A), RS1001648171 (16:57706100 C>G,T), RS1002052192 (16:57714694 A>T), RS1002133637 (16:57696498 A>C), RS1002164743 (16:57696227 T>C)

Disease associations

OMIM: gene MIM:618769 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
OTX015	decreases expression	1
mivebresib	decreases expression	1
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Air Pollutants	increases abundance, increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	decreases expression	1
Catechin	affects cotreatment, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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