DNAH9 dynein axonemal heavy chain 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAH9provided by HGNC
Official Full Name: dynein axonemal heavy chain 9provided by HGNC
Primary source: HGNC:HGNC:2953
See related: Ensembl:ENSG00000007174 MIM:603330; AllianceGenome:HGNC:2953
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: DYH9; HL20; DNEL1; HL-20; CILD40; Dnahc9; DNAH17L
Summary: This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 1.3), lung (RPKM 1.0) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p12

Exon count:: 73

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (11598470..11969748)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (11506869..11877746)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (11501787..11873065)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

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.
Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
Title: Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.
Title: Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
Title: Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
The beta-HC paralogs DNAH9 and DNAH11 achieved specific functional roles for the distinct axonemal compartments during evolution.
Title: Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
DNAH9 is widely expressed in the airways.
Title: Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
DNAH9 gene has a role in early smoke exposure in bronchial hyperresponsiveness
Title: Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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
Ciliary dyskinesia, primary, 40 MedGen: C4749028 OMIM: 618300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients. 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

G10683 (e-PCR)
- UniSTS:55602

D17S969 (e-PCR), detects polymorphism
- UniSTS:18767

STS-X99947 (e-PCR)
- UniSTS:12635

D17S676 (e-PCR)
- UniSTS:27043

RH122496 (e-PCR)
- UniSTS:135369

G17965 (e-PCR)
- UniSTS:58829

SHGC-106903 (e-PCR)
- UniSTS:183017

RH92236 (e-PCR)
- UniSTS:87542

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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cerebrospinal fluid circulation	IEA Inferred from Electronic Annotation more info
involved_in cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in mucociliary clearance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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
located_in distal portion of 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
part_of outer dynein arm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynein axonemal heavy chain 9

Names: DNAH9 variant protein; axonemal beta dynein heavy chain 9; ciliary dynein heavy chain 9; dynein, axonemal, heavy polypeptide 9

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_047047.1 RefSeqGene

Range

5040..376318

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001372.4 → NP_001363.2 dynein axonemal heavy chain 9 isoform 2

See identical proteins and their annotated locations for NP_001363.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) is the longer transcript, lacking only one of 70 exons (exon 56). Its 5' UTR differs from variant 1. Its encoded protein, isoform 2, uses the same reading frame as isoform 1.

Source sequence(s)

AC005701, AF257737, AJ404468

Consensus CDS

CCDS11160.1

UniProtKB/Swiss-Prot

A2VCQ8, O15064, O95494, Q9NQ28, Q9NYC9

UniProtKB/TrEMBL

E7EP17

Related

ENSP00000262442.3, ENST00000262442.9

Conserved Domains (8) summary

pfam03028
Location:3790 → 4476

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:212 → 789

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1295 → 1699

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12775
Location:2439 → 2710

AAA_7; P-loop containing dynein motor region D3

pfam12777
Location:3067 → 3410

MT; Microtubule-binding stalk of dynein motor

pfam12780
Location:2788 → 3055

AAA_8; P-loop containing dynein motor region D4

pfam12781
Location:3438 → 3650

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1832 → 2062

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_004662.2 → NP_004653.2 dynein axonemal heavy chain 9 isoform 1

See identical proteins and their annotated locations for NP_004653.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the shorter transcript. It includes exons 56-70. Its 5' UTR differs from variant 2 since exon 56 is unique to variant 1. Its encoded protein, isoform 1, uses the same reading frame as isoform 2. This isoform is expressed specifically in testis.

Source sequence(s)

AC005209, AJ404468, X99947

Consensus CDS

CCDS11161.1

UniProtKB/TrEMBL

A2VCN3

Related

ENSP00000476951.1, ENST00000608377.5

Conserved Domains (1) summary

pfam03028
Location:102 → 788

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

11598470..11969748

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523703.3 → XP_011522005.1 dynein axonemal heavy chain 9 isoform X1

UniProtKB/TrEMBL

E7EP17

Conserved Domains (8) summary

pfam03028
Location:3790 → 4491

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:212 → 789

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1295 → 1699

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12775
Location:2439 → 2710

AAA_7; P-loop containing dynein motor region D3

pfam12777
Location:3067 → 3410

MT; Microtubule-binding stalk of dynein motor

pfam12780
Location:2788 → 3055

AAA_8; P-loop containing dynein motor region D4

pfam12781
Location:3438 → 3650

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1832 → 2062

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017024292.3 → XP_016879781.1 dynein axonemal heavy chain 9 isoform X2

UniProtKB/TrEMBL

E7EP17
XM_017024294.2 → XP_016879783.1 dynein axonemal heavy chain 9 isoform X4
XM_017024295.2 → XP_016879784.1 dynein axonemal heavy chain 9 isoform X5
XM_017024293.2 → XP_016879782.1 dynein axonemal heavy chain 9 isoform X3

UniProtKB/TrEMBL

B0I1R1