DNAH11

dynein axonemal heavy chain 11, the group of Dyneins, axonemal outer arm complex subunits

Basic information

Region (hg38): 7:21543039-21901839

Links

ENSG00000105877

∙ NCBI:8701 ∙ OMIM:603339 ∙ HGNC:2942 ∙ Uniprot:Q96DT5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

primary ciliary dyskinesia 7 (Strong), mode of inheritance: AR
primary ciliary dyskinesia 7 (Strong), mode of inheritance: AR
primary ciliary dyskinesia 7 (Definitive), mode of inheritance: AR
primary ciliary dyskinesia (Supportive), mode of inheritance: AD
primary ciliary dyskinesia 7 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 7	AR	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Pulmonary	Pulmonary and audiologic surveillance may be beneficial to assess respiratory and hearing function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions (eg, chest percussion and oscillatory vest), as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial, though measures including lobectomy or lung transplantation may be necessary; Individuals may require surgery or other interventions related to congenital cardiac malformations	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Gastrointestinal; Pulmonary	9585585; 12142464; 18022865; 20301301; 20513915; 22184204; 22499950
The condition can involve multiple anomalies, and individuals may require surgery or other interventions related to findings such as congenital cardiac malformations

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH11 gene.

Primary ciliary dyskinesia (306 variants)
Primary ciliary dyskinesia 7 (35 variants)
not provided (15 variants)
DNAH11-related disorder (5 variants)
Laterality defects, autosomal dominant (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH11 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			10 clinvar	1130 clinvar	175 clinvar	1315
missense	8 clinvar	15 clinvar	750 clinvar	596 clinvar	477 clinvar	1846
nonsense	153 clinvar	24 clinvar	1 clinvar		2 clinvar	180
start loss	1	3				4
frameshift	131 clinvar	24 clinvar	1 clinvar			156
splice donor/acceptor (+/-2bp)	27 clinvar	79 clinvar	5 clinvar			111
Total	320	145	767	1726	654

Highest pathogenic variant AF is 0.0000920326

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH11	protein_coding	protein_coding	ENST00000328843	83	358625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.54e-58	1.00	124943	0	458	125401	0.00183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-5.61	3027	2.27e+3	1.33	0.000121	29671
Missense in Polyphen		964	760.18	1.2681		10331
Synonymous	-6.34	1080	845	1.28	0.0000479	8350
Loss of Function	5.79	131	225	0.583	0.0000125	2792

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00286	0.00280
Ashkenazi Jewish	0.00370	0.00368
East Asian	0.00288	0.00278
Finnish	0.00127	0.00125
European (Non-Finnish)	0.00179	0.00175
Middle Eastern	0.00288	0.00278
South Asian	0.00200	0.00186
Other	0.00252	0.00246

dbNSFP

Source: dbNSFP

Function: FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.;
Disease: DISEASE: Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:12142464, ECO:0000269|PubMed:18022865, ECO:0000269|PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.122

Haploinsufficiency Scores

pHI: 0.125
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.130

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Dnah11
Phenotype: growth/size/body region phenotype; craniofacial phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; immune system phenotype; liver/biliary system phenotype; respiratory system phenotype; embryo phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; vision/eye phenotype; limbs/digits/tail phenotype; digestive/alimentary phenotype; renal/urinary system phenotype; skeleton phenotype;

Gene ontology

Biological process: regulation of cilium beat frequency;microtubule-based movement;determination of left/right symmetry;learning or memory;flagellated sperm motility;determination of left/right asymmetry in nervous system;epithelial cilium movement involved in determination of left/right asymmetry;cardiac septum morphogenesis;determination of heart left/right asymmetry;sperm flagellum movement involved in flagellated sperm motility
Cellular component: microtubule;dynein complex;9+0 motile cilium;9+2 motile cilium;proximal portion of axoneme
Molecular function: ATP binding;ATP-dependent microtubule motor activity, minus-end-directed;dynein light chain binding;dynein intermediate chain binding;dynein light intermediate chain binding