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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	85478
Gene name	Dynein regulatory complex subunit 2
Gene symbol	DRC2
Synonyms (NCBI Gene)	CCDC65CFAP250FAP250NYD-SP28
Chromosome	12
Chromosome location	12q13.12

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs776979382	G>T	Pathogenic	Stop gained, coding sequence variant
rs863223325	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1003676784	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1555174708	A>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025751	hsa-miR-7-5p	Microarray	17612493
MIRT620243	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620242	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT620241	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT620240	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT620239	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT620238	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT620237	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT620236	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT620235	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT620234	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT620233	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT620232	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT663877	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT663876	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT620243	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620242	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT620241	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT620240	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT620239	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT620238	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT620237	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT620236	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT620233	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT620232	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT620243	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620242	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT620241	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT620240	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT620239	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT620238	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT620237	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT620236	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT620235	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT620234	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT620233	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT620232	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT620243	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620242	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT620241	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT620240	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT620239	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT620238	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT620237	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT620236	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT620235	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT620234	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT620233	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT620232	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT663877	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT663876	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT620243	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620242	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT620241	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT620240	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT620239	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT620238	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT620237	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT620236	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT620233	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT620232	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT620243	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620242	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT620241	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT620240	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT620239	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT620238	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT620237	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT620236	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT620235	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT620234	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT620233	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT620232	hsa-miR-1251-5p	HITS-CLIP	23824327

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003352	Process	Regulation of cilium movement	IBA
GO:0003352	Process	Regulation of cilium movement	IMP	24094744
GO:0005515	Function	Protein binding	IPI	34169321
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA	29257953
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IMP	24094744
GO:0060285	Process	Cilium-dependent cell motility	IBA
GO:0070286	Process	Axonemal dynein complex assembly	IBA
GO:0070286	Process	Axonemal dynein complex assembly	IEA

MIM	HGNC	e!Ensembl
611088	29937	ENSG00000139537

Q8IXS2

Protein name

Dynein regulatory complex subunit 2 (Coiled-coil domain-containing protein 65) (Testis development protein NYD-SP28)

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 (By similarity). Plays

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14772	NYD-SP28	24 → 124	Sperm tail	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level). {ECO:0000269|PubMed:17089017}.

Sequence

MPKKEKMAKTPLSDEKQLLLFQQKLLAEEEMAKKKERLLSQFLKDKLAKEEHNSALNLNK
INTQWRTVLREVKTRELHKDIEILSQTFERVVDCKDNVIKSLAKDLSEAEEQYAHALRSH
LHNVDQLLALQRHRLSLLEESYNMELEALTKEFETERKTIIDQHEKEIHYLQDIFMAMEQ
NYIDSEYESKLEFQSMWNDLKNMNLEEKHFLRLHLENRVEDLWRKFQDVLKNYTDATEDR
KAAFETLQVKDEKSSKEIEVQMKKIQKLQDAITISKGKIMIHSRESEDENRYIRNDKELV
LVQLRKLKAQRTQARAASQKNLVRLTLESNATLKALRKIVDKGEKILKLAEICRKFETEE
EKVLPFYSSVLTPKEQEGIQKNNLEELTEELTKVMVDYIGMENFWKRYNKVKLEQLSLQH
RRAQLLDINGKLREMLKQYLDGISVSDEVLSQLNPLFIVNYQSNLLQPLSIRIAHPGDKQ
HPTT

Sequence length

484

Interactions

View interactions

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs863223325	RCV000215832	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia 27	Pathogenic; Likely pathogenic	rs948326397, rs2498836177, rs2498844405, rs1434632385, rs1592227238, rs2498822931, rs749714265, rs1555174708, rs776979382, rs863223325	RCV003090831 RCV002583845 RCV002701372 RCV002922527 RCV002919114 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

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.
CCDC65-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 27	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	24094744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 27	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 27	Ciliary dyskinesia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 27	Ciliary dyskinesia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	23991085, 24094744, 25802884		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	23991085, 29467202	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	23991085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	23991085, 24094744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	24094744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	24094744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	23991085, 24094744		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	24094744		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	30166424		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

DRC2 (dynein regulatory complex subunit 2)