Gene Gene information from NCBI Gene database.
Entrez ID 84223
Gene name Dynein regulatory complex subunit 9
Gene symbol DRC9
Synonyms (NCBI Gene)
CFAP122IQCG
Chromosome 3
Chromosome location 3q29
miRNA miRNA information provided by mirtarbase database.
79
miRTarBase ID miRNA Experiments Reference
MIRT019420 hsa-miR-148b-3p Microarray 17612493
MIRT025135 hsa-miR-181a-5p Microarray 17612493
MIRT442472 hsa-miR-548e-5p PAR-CLIP 22100165
MIRT025135 hsa-miR-181a-5p PAR-CLIP 22100165
MIRT442471 hsa-miR-181b-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0002177 Component Manchette IEA
GO:0002177 Component Manchette ISS
GO:0005516 Function Calmodulin binding IDA 24787902
GO:0005516 Function Calmodulin binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612477 25251 ENSG00000114473
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H095
Protein name Dynein regulatory complex protein 9 (IQ domain-containing protein G)
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. Binds calmodulin when
PDB 4LZX , 4M1L , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00612 IQ 394 413 IQ calmodulin-binding motif Motif
Sequence
MEEDSLEDSNLPPKVWHSEMTVSVTGEPPSTVEEEGIPKETDIEIIPEIPETLEPLSLPD
VLRISAVLEDTTDQLSILNYIMPVQYEGRQSICVKSREMNLEGTNLDKLPMASTITKIPS
PLITEEGPNLPEIRHRGRFAVEFNKMQDLVFKKPTRQTIMTTETLKKIQIDRQFFSDVIA
DTIKELQDSATYNSLLQALSKERENKMHFYDIIAREEKGRKQIISLQKQLINVKKEWQFE
VQSQNEYIANLKDQLQEMKAKSNLENRYMKTNTELQIAQTQKKCNRTEELLVEEIEKLRM
KTEEEARTHTEIEMFLRKEQQKLEERLEFWMEKYDKDTEMKQNELNALKATKASDLAHLQ
DLAKMIREYEQVIIEDRIEKERSKKKVKQDLLELKSVIKLQAWWRGTMIRREIGGFKMPK
DKVDSKDSKGKGKGKDKRRGKKK
Sequence length 443
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA, DIAMOND-BLACKFAN Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIAMOND-BLACKFAN ANEMIA 5 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia, Diamond-Blackfan Anemia CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Ductal Ductal carcinoma Pubtator 28717182 Associate
★☆☆☆☆
Found in Text Mining only
Diamond-Blackfan Anemia 5 Diamond-Blackfan anemia CLINVAR_DG 18535205, 25946618
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia Myeloid Leukemia BEFREE 18084320
★☆☆☆☆
Found in Text Mining only