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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55144
Gene name	Leucine rich repeat containing 8 VRAC subunit D
Gene symbol	LRRC8D
Synonyms (NCBI Gene)	HsLRRC8DLRRC5
Chromosome	1
Chromosome location	1p22.2

174

Show/Hide all (174)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005467	kshv-miR-K12-3-5p	ImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCR	20413099
MIRT023944	hsa-miR-1-3p	Proteomics	18668040
MIRT029937	hsa-miR-26b-5p	Microarray	19088304
MIRT040025	hsa-miR-615-3p	CLASH	23622248
MIRT039220	hsa-miR-454-3p	CLASH	23622248
MIRT149117	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT149118	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT149119	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT149123	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT149112	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT149121	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT149115	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT149116	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT149122	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1120745	hsa-miR-25	CLIP-seq
MIRT1120746	hsa-miR-32	CLIP-seq
MIRT1120747	hsa-miR-363	CLIP-seq
MIRT1120748	hsa-miR-367	CLIP-seq
MIRT1120749	hsa-miR-3942-5p	CLIP-seq
MIRT1120750	hsa-miR-4422	CLIP-seq
MIRT1120751	hsa-miR-4424	CLIP-seq
MIRT1120752	hsa-miR-4703-5p	CLIP-seq
MIRT1120753	hsa-miR-767-5p	CLIP-seq
MIRT1120754	hsa-miR-92a	CLIP-seq
MIRT1120755	hsa-miR-92b	CLIP-seq
MIRT1120756	hsa-miR-1208	CLIP-seq
MIRT1120757	hsa-miR-181a	CLIP-seq
MIRT1120758	hsa-miR-181b	CLIP-seq
MIRT1120759	hsa-miR-181c	CLIP-seq
MIRT1120760	hsa-miR-181d	CLIP-seq
MIRT1120761	hsa-miR-199a-3p	CLIP-seq
MIRT1120762	hsa-miR-199b-3p	CLIP-seq
MIRT1120745	hsa-miR-25	CLIP-seq
MIRT1120763	hsa-miR-3074-5p	CLIP-seq
MIRT1120764	hsa-miR-30a	CLIP-seq
MIRT1120765	hsa-miR-30b	CLIP-seq
MIRT1120766	hsa-miR-30c	CLIP-seq
MIRT1120767	hsa-miR-30d	CLIP-seq
MIRT1120768	hsa-miR-30e	CLIP-seq
MIRT1120769	hsa-miR-3129-5p	CLIP-seq
MIRT1120746	hsa-miR-32	CLIP-seq
MIRT1120747	hsa-miR-363	CLIP-seq
MIRT1120748	hsa-miR-367	CLIP-seq
MIRT1120770	hsa-miR-3689a-5p	CLIP-seq
MIRT1120771	hsa-miR-3689b	CLIP-seq
MIRT1120772	hsa-miR-3689e	CLIP-seq
MIRT1120773	hsa-miR-3689f	CLIP-seq
MIRT1120749	hsa-miR-3942-5p	CLIP-seq
MIRT1120774	hsa-miR-4262	CLIP-seq
MIRT1120750	hsa-miR-4422	CLIP-seq
MIRT1120751	hsa-miR-4424	CLIP-seq
MIRT1120775	hsa-miR-448	CLIP-seq
MIRT1120776	hsa-miR-4524	CLIP-seq
MIRT1120777	hsa-miR-4690-5p	CLIP-seq
MIRT1120778	hsa-miR-4699-3p	CLIP-seq
MIRT1120752	hsa-miR-4703-5p	CLIP-seq
MIRT1120779	hsa-miR-4729	CLIP-seq
MIRT1120780	hsa-miR-4742-5p	CLIP-seq
MIRT1120781	hsa-miR-499-3p	CLIP-seq
MIRT1120782	hsa-miR-499a-3p	CLIP-seq
MIRT1120783	hsa-miR-543	CLIP-seq
MIRT1120784	hsa-miR-656	CLIP-seq
MIRT1120753	hsa-miR-767-5p	CLIP-seq
MIRT1120754	hsa-miR-92a	CLIP-seq
MIRT1120755	hsa-miR-92b	CLIP-seq
MIRT1120785	hsa-miR-936	CLIP-seq
MIRT1120745	hsa-miR-25	CLIP-seq
MIRT1120746	hsa-miR-32	CLIP-seq
MIRT1120747	hsa-miR-363	CLIP-seq
MIRT1120748	hsa-miR-367	CLIP-seq
MIRT1120749	hsa-miR-3942-5p	CLIP-seq
MIRT1120750	hsa-miR-4422	CLIP-seq
MIRT1120752	hsa-miR-4703-5p	CLIP-seq
MIRT1120753	hsa-miR-767-5p	CLIP-seq
MIRT1120754	hsa-miR-92a	CLIP-seq
MIRT1120755	hsa-miR-92b	CLIP-seq
MIRT2034204	hsa-miR-103a	CLIP-seq
MIRT2034205	hsa-miR-107	CLIP-seq
MIRT1120757	hsa-miR-181a	CLIP-seq
MIRT1120758	hsa-miR-181b	CLIP-seq
MIRT1120759	hsa-miR-181c	CLIP-seq
MIRT1120760	hsa-miR-181d	CLIP-seq
MIRT1120745	hsa-miR-25	CLIP-seq
MIRT1120746	hsa-miR-32	CLIP-seq
MIRT1120747	hsa-miR-363	CLIP-seq
MIRT1120748	hsa-miR-367	CLIP-seq
MIRT2034206	hsa-miR-3691-3p	CLIP-seq
MIRT1120749	hsa-miR-3942-5p	CLIP-seq
MIRT1120774	hsa-miR-4262	CLIP-seq
MIRT1120750	hsa-miR-4422	CLIP-seq
MIRT1120751	hsa-miR-4424	CLIP-seq
MIRT1120776	hsa-miR-4524	CLIP-seq
MIRT1120777	hsa-miR-4690-5p	CLIP-seq
MIRT1120778	hsa-miR-4699-3p	CLIP-seq
MIRT1120752	hsa-miR-4703-5p	CLIP-seq
MIRT1120779	hsa-miR-4729	CLIP-seq
MIRT1120780	hsa-miR-4742-5p	CLIP-seq
MIRT2034207	hsa-miR-520d-5p	CLIP-seq
MIRT2034208	hsa-miR-524-5p	CLIP-seq
MIRT1120753	hsa-miR-767-5p	CLIP-seq
MIRT1120754	hsa-miR-92a	CLIP-seq
MIRT1120755	hsa-miR-92b	CLIP-seq
MIRT2034204	hsa-miR-103a	CLIP-seq
MIRT2034205	hsa-miR-107	CLIP-seq
MIRT1120757	hsa-miR-181a	CLIP-seq
MIRT1120758	hsa-miR-181b	CLIP-seq
MIRT1120759	hsa-miR-181c	CLIP-seq
MIRT1120760	hsa-miR-181d	CLIP-seq
MIRT1120761	hsa-miR-199a-3p	CLIP-seq
MIRT1120762	hsa-miR-199b-3p	CLIP-seq
MIRT1120745	hsa-miR-25	CLIP-seq
MIRT1120769	hsa-miR-3129-5p	CLIP-seq
MIRT2264565	hsa-miR-3183	CLIP-seq
MIRT1120746	hsa-miR-32	CLIP-seq
MIRT2264566	hsa-miR-324-5p	CLIP-seq
MIRT2264567	hsa-miR-3614-3p	CLIP-seq
MIRT1120747	hsa-miR-363	CLIP-seq
MIRT1120748	hsa-miR-367	CLIP-seq
MIRT2034206	hsa-miR-3691-3p	CLIP-seq
MIRT1120749	hsa-miR-3942-5p	CLIP-seq
MIRT1120774	hsa-miR-4262	CLIP-seq
MIRT1120750	hsa-miR-4422	CLIP-seq
MIRT1120752	hsa-miR-4703-5p	CLIP-seq
MIRT2264568	hsa-miR-4723-3p	CLIP-seq
MIRT2034207	hsa-miR-520d-5p	CLIP-seq
MIRT2034208	hsa-miR-524-5p	CLIP-seq
MIRT1120783	hsa-miR-543	CLIP-seq
MIRT2264569	hsa-miR-586	CLIP-seq
MIRT2264570	hsa-miR-654-3p	CLIP-seq
MIRT1120753	hsa-miR-767-5p	CLIP-seq
MIRT1120754	hsa-miR-92a	CLIP-seq
MIRT1120755	hsa-miR-92b	CLIP-seq
MIRT1120785	hsa-miR-936	CLIP-seq
MIRT1120757	hsa-miR-181a	CLIP-seq
MIRT1120758	hsa-miR-181b	CLIP-seq
MIRT1120759	hsa-miR-181c	CLIP-seq
MIRT1120760	hsa-miR-181d	CLIP-seq
MIRT1120774	hsa-miR-4262	CLIP-seq
MIRT2034204	hsa-miR-103a	CLIP-seq
MIRT2034205	hsa-miR-107	CLIP-seq
MIRT1120757	hsa-miR-181a	CLIP-seq
MIRT1120758	hsa-miR-181b	CLIP-seq
MIRT1120759	hsa-miR-181c	CLIP-seq
MIRT1120760	hsa-miR-181d	CLIP-seq
MIRT1120761	hsa-miR-199a-3p	CLIP-seq
MIRT1120762	hsa-miR-199b-3p	CLIP-seq
MIRT1120764	hsa-miR-30a	CLIP-seq
MIRT1120765	hsa-miR-30b	CLIP-seq
MIRT1120766	hsa-miR-30c	CLIP-seq
MIRT1120767	hsa-miR-30d	CLIP-seq
MIRT1120768	hsa-miR-30e	CLIP-seq
MIRT1120769	hsa-miR-3129-5p	CLIP-seq
MIRT2034206	hsa-miR-3691-3p	CLIP-seq
MIRT1120774	hsa-miR-4262	CLIP-seq
MIRT1120780	hsa-miR-4742-5p	CLIP-seq
MIRT2034207	hsa-miR-520d-5p	CLIP-seq
MIRT2034208	hsa-miR-524-5p	CLIP-seq
MIRT1120783	hsa-miR-543	CLIP-seq
MIRT1120785	hsa-miR-936	CLIP-seq
MIRT2563518	hsa-miR-1283	CLIP-seq
MIRT1120757	hsa-miR-181a	CLIP-seq
MIRT1120758	hsa-miR-181b	CLIP-seq
MIRT1120759	hsa-miR-181c	CLIP-seq
MIRT1120760	hsa-miR-181d	CLIP-seq
MIRT2264565	hsa-miR-3183	CLIP-seq
MIRT2264566	hsa-miR-324-5p	CLIP-seq
MIRT2264567	hsa-miR-3614-3p	CLIP-seq
MIRT1120774	hsa-miR-4262	CLIP-seq
MIRT2264568	hsa-miR-4723-3p	CLIP-seq
MIRT1120783	hsa-miR-543	CLIP-seq
MIRT2563519	hsa-miR-548aa	CLIP-seq
MIRT2264569	hsa-miR-586	CLIP-seq
MIRT2264570	hsa-miR-654-3p	CLIP-seq
MIRT2563520	hsa-miR-935	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0001678	Process	Intracellular glucose homeostasis	ISS
GO:0005225	Function	Volume-sensitive anion channel activity	IBA
GO:0005225	Function	Volume-sensitive anion channel activity	IDA	32415200
GO:0005225	Function	Volume-sensitive anion channel activity	IEA
GO:0005225	Function	Volume-sensitive anion channel activity	IMP	28193731
GO:0005225	Function	Volume-sensitive anion channel activity	IMP	26824658
GO:0005515	Function	Protein binding	IPI	24790029
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24790029
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24790029
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	26824658, 28193731
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015734	Process	Taurine transmembrane transport	IMP	28193731
GO:0015810	Process	Aspartate transmembrane transport	IBA
GO:0015810	Process	Aspartate transmembrane transport	IMP	28193731
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	32415200
GO:0016020	Component	Membrane	IEA
GO:0034214	Process	Protein hexamerization	IDA	32415200
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IBA
GO:0034702	Component	Monoatomic ion channel complex	IMP	28193731
GO:0071470	Process	Cellular response to osmotic stress	IMP	28193731
GO:0098656	Process	Monoatomic anion transmembrane transport	IBA
GO:0098656	Process	Monoatomic anion transmembrane transport	IDA	32415200
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IMP	24790029
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IDA	33171122

MIM	HGNC	e!Ensembl
612890	16992	ENSG00000171492

Q7L1W4

Protein name

Volume-regulated anion channel subunit LRRC8D (Leucine-rich repeat-containing protein 5) (Leucine-rich repeat-containing protein 8D) (HsLRRC8D)

Protein function

Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:2

PDB

6M04

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12534	Pannexin_like	1 → 384	Pannexin-like TM region of LRRC8	Family
PF13855	LRR_8	635 → 695	Leucine rich repeat	Repeat
PF13855	LRR_8	683 → 741	Leucine rich repeat	Repeat

Sequence

MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGTMQLTKDQVVCLPVLPS
PVNSKAHTPPGNAEVTTNIPKMEAATNQDQDGRTTNDISFGTSAVTPDIPLRATYPRTDF
ALPNQEAKKEKKDPTGRKTNLDFQQYVFINQMCYHLALPWYSKYFPYLALIHTIILMVSS
NFWFKYPKTCSKVEHFVSILGKCFESPWTTKALSETACEDSEENKQRITGAQTLPKHVST
SSDEGSPSASTPMINKTGFKFSAEKPVIEVPSMTILDKKDGEQAKALFEKVRKFRAHVED
SDLIYKLYVVQTVIKTAKFIFILCYTANFVNAISFEHVCKPKVEHLIGYEVFECTHNMAY
MLKKLLISYISIICVYGFICLYTLFWLFRIPLKEYSFEKVREESSFSDIPDVKNDFAFLL
HMVDQYDQLYSKRFGVFLSEVSENKLREISLNHEWTFEKLRQHISRNAQDKQELHLFMLS
GVPDAVFDLTDLDVLKLELIPEAKIPAKISQMTNLQELHLCHCPAKVEQTAFSFLRDHLR
CLHVKFTDVAEIPAWVYLLKNLRELYLIGNLNSENNKMIGLESLRELRHLKILHVKSNLT
KVPSNITDVAPHLTKLVIHNDGTKLLVLNSLKKMMNVAELELQNCELERIPHAIFSLSNL
QELDLKSNNIRTIEEIISFQHLKRLTCLKLWHNKIVTIPPSITHVKNLESLYFSNNKLES
LPVAVFSLQKLRCLDVSYNNISMIPIEIGLLQNLQHLHITGNKVDILPKQLFKCIKLRTL
NLGQNCITSLPEKVGQLSQLTQLELKGNCLDRLPAQLGQCRMLKKSGLVVEDHLFDTLPL
EVKEALNQDINIPFANGI

Sequence length

858

Interactions

View interactions

	Reactome
			Miscellaneous transport and binding events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32650679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	GWASCAT_DG	29923122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30306731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	GWASCAT_DG	29923122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	29923122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	GWASCAT_DG	29923122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	33932953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only

LRRC8D (leucine rich repeat containing 8 VRAC subunit D)