Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2622
Gene name	Dynein regulatory complex subunit 4
Gene symbol	DRC4
Synonyms (NCBI Gene)	CILD33GAS11GAS8
Chromosome	16
Chromosome location	16q24.3

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141125763	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs748688175	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs755553133	C>T	Pathogenic	Stop gained, coding sequence variant
rs1597643228	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

196

Show/Hide all (196)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019849	hsa-miR-375	Microarray	20215506
MIRT1012362	hsa-miR-1202	CLIP-seq
MIRT1012363	hsa-miR-1207-5p	CLIP-seq
MIRT1012364	hsa-miR-1253	CLIP-seq
MIRT1012365	hsa-miR-125a-3p	CLIP-seq
MIRT1012366	hsa-miR-1266	CLIP-seq
MIRT1012367	hsa-miR-1285	CLIP-seq
MIRT1012368	hsa-miR-1299	CLIP-seq
MIRT1012369	hsa-miR-134	CLIP-seq
MIRT1012370	hsa-miR-1343	CLIP-seq
MIRT1012371	hsa-miR-150	CLIP-seq
MIRT1012372	hsa-miR-153	CLIP-seq
MIRT1012373	hsa-miR-1587	CLIP-seq
MIRT1012374	hsa-miR-18a	CLIP-seq
MIRT1012375	hsa-miR-18b	CLIP-seq
MIRT1012376	hsa-miR-1913	CLIP-seq
MIRT1012377	hsa-miR-197	CLIP-seq
MIRT1012378	hsa-miR-2861	CLIP-seq
MIRT1012379	hsa-miR-298	CLIP-seq
MIRT1012380	hsa-miR-3065-3p	CLIP-seq
MIRT1012381	hsa-miR-3118	CLIP-seq
MIRT1012382	hsa-miR-3123	CLIP-seq
MIRT1012383	hsa-miR-3147	CLIP-seq
MIRT1012384	hsa-miR-3148	CLIP-seq
MIRT1012385	hsa-miR-3150a-5p	CLIP-seq
MIRT1012386	hsa-miR-3150b-5p	CLIP-seq
MIRT1012387	hsa-miR-3156-3p	CLIP-seq
MIRT1012388	hsa-miR-3164	CLIP-seq
MIRT1012389	hsa-miR-3187-5p	CLIP-seq
MIRT1012390	hsa-miR-3189-5p	CLIP-seq
MIRT1012391	hsa-miR-3194-5p	CLIP-seq
MIRT1012392	hsa-miR-320a	CLIP-seq
MIRT1012393	hsa-miR-320b	CLIP-seq
MIRT1012394	hsa-miR-320c	CLIP-seq
MIRT1012395	hsa-miR-320d	CLIP-seq
MIRT1012396	hsa-miR-324-3p	CLIP-seq
MIRT1012397	hsa-miR-326	CLIP-seq
MIRT1012398	hsa-miR-330-5p	CLIP-seq
MIRT1012399	hsa-miR-331-3p	CLIP-seq
MIRT1012400	hsa-miR-361-3p	CLIP-seq
MIRT1012401	hsa-miR-3614-5p	CLIP-seq
MIRT1012402	hsa-miR-3650	CLIP-seq
MIRT1012403	hsa-miR-3664-3p	CLIP-seq
MIRT1012404	hsa-miR-3670	CLIP-seq
MIRT1012405	hsa-miR-371-3p	CLIP-seq
MIRT1012406	hsa-miR-371b-3p	CLIP-seq
MIRT1012407	hsa-miR-378g	CLIP-seq
MIRT1012408	hsa-miR-384	CLIP-seq
MIRT1012409	hsa-miR-3921	CLIP-seq
MIRT1012410	hsa-miR-3922-5p	CLIP-seq
MIRT1012411	hsa-miR-3925-5p	CLIP-seq
MIRT1012412	hsa-miR-3934	CLIP-seq
MIRT1012413	hsa-miR-3972	CLIP-seq
MIRT1012414	hsa-miR-3976	CLIP-seq
MIRT1012415	hsa-miR-4251	CLIP-seq
MIRT1012416	hsa-miR-4254	CLIP-seq
MIRT1012417	hsa-miR-4260	CLIP-seq
MIRT1012418	hsa-miR-4264	CLIP-seq
MIRT1012419	hsa-miR-4301	CLIP-seq
MIRT1012420	hsa-miR-4308	CLIP-seq
MIRT1012421	hsa-miR-4313	CLIP-seq
MIRT1012422	hsa-miR-4329	CLIP-seq
MIRT1012423	hsa-miR-4425	CLIP-seq
MIRT1012424	hsa-miR-4429	CLIP-seq
MIRT1012425	hsa-miR-4434	CLIP-seq
MIRT1012426	hsa-miR-4436b-5p	CLIP-seq
MIRT1012427	hsa-miR-4449	CLIP-seq
MIRT1012428	hsa-miR-4452	CLIP-seq
MIRT1012429	hsa-miR-4463	CLIP-seq
MIRT1012430	hsa-miR-4473	CLIP-seq
MIRT1012431	hsa-miR-4479	CLIP-seq
MIRT1012432	hsa-miR-4486	CLIP-seq
MIRT1012433	hsa-miR-4492	CLIP-seq
MIRT1012434	hsa-miR-4494	CLIP-seq
MIRT1012435	hsa-miR-4498	CLIP-seq
MIRT1012436	hsa-miR-4516	CLIP-seq
MIRT1012437	hsa-miR-4518	CLIP-seq
MIRT1012438	hsa-miR-4531	CLIP-seq
MIRT1012439	hsa-miR-4632	CLIP-seq
MIRT1012440	hsa-miR-4640-5p	CLIP-seq
MIRT1012441	hsa-miR-4653-5p	CLIP-seq
MIRT1012442	hsa-miR-4656	CLIP-seq
MIRT1012443	hsa-miR-4670-3p	CLIP-seq
MIRT1012444	hsa-miR-4671-3p	CLIP-seq
MIRT1012445	hsa-miR-4675	CLIP-seq
MIRT1012446	hsa-miR-4680-3p	CLIP-seq
MIRT1012447	hsa-miR-4706	CLIP-seq
MIRT1012448	hsa-miR-4708-3p	CLIP-seq
MIRT1012449	hsa-miR-4714-5p	CLIP-seq
MIRT1012450	hsa-miR-4726-3p	CLIP-seq
MIRT1012451	hsa-miR-4726-5p	CLIP-seq
MIRT1012452	hsa-miR-4735-3p	CLIP-seq
MIRT1012453	hsa-miR-4736	CLIP-seq
MIRT1012454	hsa-miR-4741	CLIP-seq
MIRT1012455	hsa-miR-4749-5p	CLIP-seq
MIRT1012456	hsa-miR-4758-3p	CLIP-seq
MIRT1012457	hsa-miR-4763-3p	CLIP-seq
MIRT1012458	hsa-miR-4768-5p	CLIP-seq
MIRT1012459	hsa-miR-4771	CLIP-seq
MIRT1012460	hsa-miR-4792	CLIP-seq
MIRT1012461	hsa-miR-510	CLIP-seq
MIRT1012462	hsa-miR-515-3p	CLIP-seq
MIRT1012463	hsa-miR-518a-5p	CLIP-seq
MIRT1012464	hsa-miR-519e	CLIP-seq
MIRT1012465	hsa-miR-527	CLIP-seq
MIRT1012466	hsa-miR-612	CLIP-seq
MIRT1012467	hsa-miR-622	CLIP-seq
MIRT1012468	hsa-miR-744	CLIP-seq
MIRT1012469	hsa-miR-762	CLIP-seq
MIRT1012470	hsa-miR-764	CLIP-seq
MIRT1012471	hsa-miR-875-3p	CLIP-seq
MIRT1012472	hsa-miR-876-3p	CLIP-seq
MIRT1999912	hsa-miR-1208	CLIP-seq
MIRT1999913	hsa-miR-1245b-3p	CLIP-seq
MIRT1012365	hsa-miR-125a-3p	CLIP-seq
MIRT1012366	hsa-miR-1266	CLIP-seq
MIRT1012367	hsa-miR-1285	CLIP-seq
MIRT1012373	hsa-miR-1587	CLIP-seq
MIRT1012389	hsa-miR-3187-5p	CLIP-seq
MIRT1012397	hsa-miR-326	CLIP-seq
MIRT1012398	hsa-miR-330-5p	CLIP-seq
MIRT1012399	hsa-miR-331-3p	CLIP-seq
MIRT1012400	hsa-miR-361-3p	CLIP-seq
MIRT1999914	hsa-miR-3619-3p	CLIP-seq
MIRT1012403	hsa-miR-3664-3p	CLIP-seq
MIRT1999915	hsa-miR-3690	CLIP-seq
MIRT1999916	hsa-miR-3714	CLIP-seq
MIRT1012407	hsa-miR-378g	CLIP-seq
MIRT1012410	hsa-miR-3922-5p	CLIP-seq
MIRT1012416	hsa-miR-4254	CLIP-seq
MIRT1999917	hsa-miR-4269	CLIP-seq
MIRT1999918	hsa-miR-4419a	CLIP-seq
MIRT1012432	hsa-miR-4486	CLIP-seq
MIRT1012433	hsa-miR-4492	CLIP-seq
MIRT1999919	hsa-miR-4493	CLIP-seq
MIRT1012435	hsa-miR-4498	CLIP-seq
MIRT1999920	hsa-miR-4510	CLIP-seq
MIRT1999921	hsa-miR-4514	CLIP-seq
MIRT1012437	hsa-miR-4518	CLIP-seq
MIRT1999922	hsa-miR-4523	CLIP-seq
MIRT1999923	hsa-miR-4653-3p	CLIP-seq
MIRT1012442	hsa-miR-4656	CLIP-seq
MIRT1012445	hsa-miR-4675	CLIP-seq
MIRT1999924	hsa-miR-4692	CLIP-seq
MIRT1012448	hsa-miR-4708-3p	CLIP-seq
MIRT1999925	hsa-miR-4709-5p	CLIP-seq
MIRT1012454	hsa-miR-4741	CLIP-seq
MIRT1999926	hsa-miR-4749-3p	CLIP-seq
MIRT1999927	hsa-miR-4776-5p	CLIP-seq
MIRT1999928	hsa-miR-499-3p	CLIP-seq
MIRT1999929	hsa-miR-499a-3p	CLIP-seq
MIRT1012466	hsa-miR-612	CLIP-seq
MIRT1999930	hsa-miR-663b	CLIP-seq
MIRT1012469	hsa-miR-762	CLIP-seq
MIRT1999931	hsa-miR-940	CLIP-seq
MIRT1012373	hsa-miR-1587	CLIP-seq
MIRT2233313	hsa-miR-3163	CLIP-seq
MIRT2233314	hsa-miR-3182	CLIP-seq
MIRT2233315	hsa-miR-3682-3p	CLIP-seq
MIRT1012407	hsa-miR-378g	CLIP-seq
MIRT2233316	hsa-miR-4474-3p	CLIP-seq
MIRT1012433	hsa-miR-4492	CLIP-seq
MIRT1012435	hsa-miR-4498	CLIP-seq
MIRT2233317	hsa-miR-4502	CLIP-seq
MIRT1012442	hsa-miR-4656	CLIP-seq
MIRT2233318	hsa-miR-4668-3p	CLIP-seq
MIRT1012445	hsa-miR-4675	CLIP-seq
MIRT1012454	hsa-miR-4741	CLIP-seq
MIRT2233319	hsa-miR-579	CLIP-seq
MIRT2233320	hsa-miR-628-5p	CLIP-seq
MIRT1012469	hsa-miR-762	CLIP-seq
MIRT1012404	hsa-miR-3670	CLIP-seq
MIRT1012367	hsa-miR-1285	CLIP-seq
MIRT1012369	hsa-miR-134	CLIP-seq
MIRT1012381	hsa-miR-3118	CLIP-seq
MIRT1012387	hsa-miR-3156-3p	CLIP-seq
MIRT1012388	hsa-miR-3164	CLIP-seq
MIRT1012389	hsa-miR-3187-5p	CLIP-seq
MIRT1012419	hsa-miR-4301	CLIP-seq
MIRT1012461	hsa-miR-510	CLIP-seq
MIRT1012466	hsa-miR-612	CLIP-seq
MIRT1012363	hsa-miR-1207-5p	CLIP-seq
MIRT1012367	hsa-miR-1285	CLIP-seq
MIRT1012369	hsa-miR-134	CLIP-seq
MIRT1012381	hsa-miR-3118	CLIP-seq
MIRT1012387	hsa-miR-3156-3p	CLIP-seq
MIRT1012388	hsa-miR-3164	CLIP-seq
MIRT1012389	hsa-miR-3187-5p	CLIP-seq
MIRT1012404	hsa-miR-3670	CLIP-seq
MIRT1012419	hsa-miR-4301	CLIP-seq
MIRT1012432	hsa-miR-4486	CLIP-seq
MIRT1012453	hsa-miR-4736	CLIP-seq
MIRT1012457	hsa-miR-4763-3p	CLIP-seq
MIRT1012460	hsa-miR-4792	CLIP-seq
MIRT1012461	hsa-miR-510	CLIP-seq
MIRT1012466	hsa-miR-612	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	ISS
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0005515	Function	Protein binding	IPI	21659505, 32296183, 33961781, 34169321
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	10969087
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA	16643277, 27120127
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	16643277, 26387594
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007420	Process	Brain development	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9790751
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031514	Component	Motile cilium	IDA	26387594
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0035082	Process	Axoneme assembly	IEA
GO:0035082	Process	Axoneme assembly	IMP	27120127
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0048870	Process	Cell motility	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IMP	27472056
GO:0097729	Component	9+2 motile cilium	IEA
GO:1903566	Process	Positive regulation of protein localization to cilium	IEA
GO:1903566	Process	Positive regulation of protein localization to cilium	IMP	27120127

MIM	HGNC	e!Ensembl
605178	4166	ENSG00000141013

O95995

Protein name

Dynein regulatory complex subunit 4 (Growth arrest-specific protein 11) (GAS-11) (Growth arrest-specific protein 8) (GAS-8)

Protein 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. Plays an important ro

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13851	GAS	221 → 420	Growth-arrest specific micro-tubule binding	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in respiratory epithelial cells (at protein level) (PubMed:26387594). Expressed in the heart, skeletal muscle, pancreas, liver, brain, trachea and lung. Weakly or not expressed in placenta and kidney (PubMed:9790751). {ECO:00

Sequence

MAPKKKGKKGKAKGTPIVDGLAPEDMSKEQVEEHVSRIREELDREREERNYFQLERDKIH
TFWEITRRQLEEKKAELRNKDREMEEAEERHQVEIKVYKQKVKHLLYEHQNNLTEMKAEG
TVVMKLAQKEHRIQESVLRKDMRALKVELKEQELASEVVVKNLRLKHTEEITRMRNDFER
QVREIEAKYDKKMKMLRDELDLRRKTELHEVEERKNGQIHTLMQRHEEAFTDIKNYYNDI
TLNNLALINSLKEQMEDMRKKEDHLEREMAEVSGQNKRLADPLQKAREEMSEMQKQLANY
ERDKQILLCTKARLKVREKELKDLQWEHEVLEQRFTKVQQERDELYRKFTAAIQEVQQKT
GFKNLVLERKLQALSAAVEKKEVQFNEVLAASNLDPAALTLVSRKLEDVLESKNSTIKDL
QYELAQVCKAHNDLLRTYEAKLLAFGIPLDNVGFKPLETAVIGQTLGQGPAGLVGTPT

Sequence length

478

Interactions

View interactions

	Reactome
			Activation of SMO

243

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GAS8-related disorder	Pathogenic	rs566755911	RCV003401099
Primary ciliary dyskinesia 33	Likely pathogenic; Pathogenic	rs778438857, rs143809463, rs909318705, rs755553133, rs566755911, rs2543473366, rs2543466489, rs765877577, rs781317147	RCV001376856 RCV001390394 RCV002644518 RCV000203538 RCV000203561 RCV003140402 RCV004555915 RCV003756332 RCV003852184

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2302513	RCV005909670
Adrenocortical carcinoma, hereditary	Benign	rs2302513	RCV005909671
Cervical cancer	Uncertain significance	rs147133929	RCV005912514
Cholangiocarcinoma	Benign	rs2302513	RCV005909675
Clear cell carcinoma of kidney	Benign	rs116113385	RCV005897148
Colorectal cancer	Benign	rs2302513	RCV005909673
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs116113385, rs140344685	RCV005897146 RCV005900355
Hepatocellular carcinoma	Benign	rs868371	RCV005923793
Lung cancer	Benign	rs116113385	RCV005897153
Nonpapillary renal cell carcinoma	Benign	rs116113385	RCV005897147
Ovarian serous cystadenocarcinoma	Benign	rs868371, rs116113385	RCV005923794 RCV005897150
Primary ciliary dyskinesia	Uncertain significance	rs151099141	RCV001255272
Sarcoma	Benign	rs116113385	RCV005897149
See cases	Uncertain significance	rs200219366	RCV002287459
Thymoma	Benign	rs116113385	RCV005897152
Uterine carcinosarcoma	Benign	rs2302513, rs868371, rs116113385	RCV005909674 RCV005923795 RCV005897151
Uveal melanoma	Benign	rs2302513	RCV005909672

DRC4 (dynein regulatory complex subunit 4)