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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23639
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein axonemal assembly factor 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAAF11
Synonyms (NCBI Gene) Gene synonyms aliases	CILD19, LRRC6, LRTP, TSLRP, tilB
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.22
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in mul

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139131485	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs141945265	G>A,C	Likely-benign, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs200321595	C>G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs397514596	C>G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs397515424	TT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs397515425	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs397515461	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs750603177	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, intron variant, non coding transcript variant
rs760123202	C>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs763900107	A>-,AA	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs769220870	AG>-	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1586586381	AT>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	23122589
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	ISS
GO:0005515	Function	Protein binding	IPI	23891469, 23891471, 25036637, 29601588, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23122589, 23527195
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	10775177
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005929	Component	Cilium	IDA	23122589
GO:0005929	Component	Cilium	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS	10775177
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	23122589
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	IMP	23122589
GO:0036158	Process	Outer dynein arm assembly	ISS
GO:0036159	Process	Inner dynein arm assembly	IMP	23122589
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IMP	23122589
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051649	Process	Establishment of localization in cell	ISS
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IMP	23122589
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	ISS
GO:0061458	Process	Reproductive system development	IEA
GO:0061458	Process	Reproductive system development	IMP	23122589
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	ISS
GO:0070286	Process	Axonemal dynein complex assembly	IMP	23527195
GO:0090651	Component	Apical cytoplasm	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	ISS
GO:0120229	Process	Protein localization to motile cilium	IMP	23527195
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

MIM	HGNC	e!Ensembl
614930	16725	ENSG00000129295

Protein

UniProt ID

Q86X45

Protein name

Dynein axonemal assembly factor 11 (DNAAF11) (Leucine-rich repeat-containing protein 6) (Leucine-rich testis-specific protein) (Protein tilB homolog) (Testis-specific leucine-rich repeat protein)

Protein function

Involved in dynein arm assembly, is important for expression and transporting outer dynein arm (ODA) proteins from the cytoplasm to the cilia (PubMed:23122589, PubMed:23527195, PubMed:33403504). Acts as a crucial component in the formation and m

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in testis and in nasal epithelial cells. {ECO:0000269|PubMed:23122589, ECO:0000269|PubMed:23527195, ECO:0000269|PubMed:33403504}.

Sequence

MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIE
NVSKLKKLEYLNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFL
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKR
AKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALN
VNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDP
SKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI

Sequence length

466

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ciliary dyskinesia	primary ciliary dyskinesia, Primary ciliary dyskinesia 19	rs769220870, rs397515425, rs763900107, rs200321595, rs1586586381, rs767624733, rs397515461, rs979934112, rs760123202, rs1815572053, rs750603177, rs397515424, rs141945265	N/A
Heterotaxia	Heterotaxy	rs200321595	N/A
Kartagener Syndrome	kartagener syndrome	rs760123202	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Multiple Sclerosis	Multiple sclerosis, susceptibility to	N/A	N/A	ClinVar
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS

DNAAF11 (dynein axonemal assembly factor 11)