DRC3 - dynein regulatory complex subunit 3 Gene

Homo sapiens

Also known as LRRC48; CFAP134

Gene ID: 83450 | Gene type: protein coding

About DRC3

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,972,813-18,016,889 (from NCBI)

This gene has 18 transcripts (splice variants), 202 orthologues and 13 paralogues. Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues.

Summary

Located in axoneme. [provided by Alliance of Genome Resources, Apr 2022]

DRC3 Products(4)

mRNA	Protein	Name
NM_001130090.1	NP_001123562.1	dynein regulatory complex subunit 3 isoform a
NM_001130091.2	NP_001123563.1	dynein regulatory complex subunit 3 isoform b
NM_001130092.2	NP_001123564.1	dynein regulatory complex subunit 3 isoform b
NM_031294.4	NP_112584.3	dynein regulatory complex subunit 3 isoform a

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in axoneme	IDA IDA: Inferred from direct assay	26387594	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DRC3 Protein Structure

LRR_9

0
100
200
300
400
523 a.a.

Protein Preferred Names

Protein Names

dynein regulatory complex subunit 3

leucine rich repeat containing 48

Related Diseases

Diseases

Alias

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03992	DRC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DRC3	VGNC	VGNC:61624
Bos taurus	DRC3	VGNC	VGNC:52763
Rattus norvegicus	DRC3	RGD	RGD:1309150
Canis familiaris	DRC3	VGNC	VGNC:53350
Mus musculus	DRC3	MGD	MGI:1921915
Macaca mulatta	DRC3	VGNC	VGNC:71906

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