DNAH11 dynein axonemal heavy chain 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAH11provided by HGNC
Official Full Name: dynein axonemal heavy chain 11provided by HGNC
Primary source: HGNC:HGNC:2942
See related: Ensembl:ENSG00000105877 MIM:603339; AllianceGenome:HGNC:2942
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CILD7; DNHBL; DPL11; DNAHBL; DNAHC11
Summary: This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
Expression: Broad expression in thyroid (RPKM 1.1), lung (RPKM 1.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p15.3

Exon count:: 82

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (21543039..21901839)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (21679184..22038139)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (21582657..21941457)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
Title: First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.
Title: A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.
Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
Title: Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
Title: Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Title: DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
Title: Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.
Title: DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.
The variant c.9484-1 G>T was confirmed as a novel virulence variant which was predicted to affect splicing by Human Splicing Finder 3.1. And c.12428 T>C was predicted to be mildly pathogenic in silico analysis. We found that DNAH11 polymorphisms display strong associations with asthenozoospermia, and may contribute to an increased risk of male infertility in Chinese patients.
Title: Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients.
We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G > C; p.(R2501P), and a novel variant c.12043 T > G; p.(Y4015D). . Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified.
Title: Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
The rs2285947 variant of DNAH11 was found to be significantly associated with both ovarian and breast cancers in a cohort of women in India.
Title: Genetic variants of DNAH11 and LRFN2 genes and their association with ovarian and breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primary ciliary dyskinesia 7 MedGen: C2678473 OMIM: 611884 GeneReviews: Primary Ciliary Dyskinesia	not available

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2336 (e-PCR)
- UniSTS:65281

GDB:1317676 (e-PCR)
- UniSTS:43563

D7S729 (e-PCR)
- UniSTS:54583

RH65966 (e-PCR)
- UniSTS:38751

D7S2813 (e-PCR)
- UniSTS:38503

G44296 (e-PCR)
- UniSTS:95090

D7S2710 (e-PCR)
- UniSTS:80760

D7S772 (e-PCR)
- UniSTS:43651

D7S1868 (e-PCR)
- UniSTS:80516

D7S1895 (e-PCR)
- UniSTS:76976

G42095 (e-PCR)
- UniSTS:93141

D7S493 (e-PCR), detects polymorphism
- UniSTS:79577

RH15622 (e-PCR)
- UniSTS:91612

SHGC-63627 (e-PCR)
- UniSTS:69087

RH103948 (e-PCR)
- UniSTS:98273

RH75427 (e-PCR)
- UniSTS:91621

D7S493 (e-PCR), detects polymorphism
- UniSTS:51444

Dnahc11 (e-PCR), detects polymorphism
- UniSTS:259327

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables minus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cardiac septum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in determination of left/right asymmetry in nervous system	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cilium movement involved in determination of left/right asymmetry	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in protein localization to motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cilium beat frequency	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+0 motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
part_of dynein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in proximal portion of axoneme	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dynein axonemal heavy chain 11

Names: axonemal beta dynein heavy chain 11; axonemal dynein heavy chain 11; ciliary dynein heavy chain 11; dynein heavy chain 11, axonemal; dynein, axonemal, heavy polypeptide 11; dynein, ciliary, heavy chain 11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012886.2 RefSeqGene

Range

4825..363625

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001277115.2 → NP_001264044.1 dynein axonemal heavy chain 11

See identical proteins and their annotated locations for NP_001264044.1

Status: REVIEWED

Source sequence(s)

AC004002, AC004595, AC005078, AC073102, AC099653, AC102952, AJ320497, AK054657, JQ247523, JQ247524

Consensus CDS

CCDS64602.1

UniProtKB/Swiss-Prot

Q96DT5, Q9UJ82

UniProtKB/TrEMBL

C0JYZ1

Related

ENSP00000475939.1, ENST00000409508.8

Conserved Domains (6) summary

pfam03028
Location:3820 → 4506

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:239 → 812

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1319 → 1722

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:3097 → 3441

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3468 → 3680

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:2471 → 2741

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases