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DNAH6 dynein axonemal heavy chain 6 [ Homo sapiens (human) ]

Gene ID: 1768, updated on 27-Nov-2024

Summary

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Official Symbol
DNAH6provided by HGNC
Official Full Name
dynein axonemal heavy chain 6provided by HGNC
Primary source
HGNC:HGNC:2951
See related
Ensembl:ENSG00000115423 MIM:603336; AllianceGenome:HGNC:2951
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
HL2; HL-2; DNHL1; Dnahc6
Summary
This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]
Expression
Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues See more
Orthologs
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Genomic context

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See DNAH6 in Genome Data Viewer
Location:
2p11.2
Exon count:
80
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (84459572..84819589)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (84461074..84821356)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (84743622..85046713)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985905 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:84517185-84518384 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:84524005-84525204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16098 Neighboring gene FUN14 domain containing 2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11686 Neighboring gene succinate-CoA ligase GDP/ADP-forming subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16100 Neighboring gene ubiquitin specific peptidase 26 pseudogene Neighboring gene double homeobox A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11687 Neighboring gene lactate dehydrogenase A pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85073645-85074146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85074147-85074646 Neighboring gene TraB domain containing 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85107450-85107952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85107953-85108453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16103 Neighboring gene uncharacterized LOC105374837 Neighboring gene uncharacterized LOC105374836 Neighboring gene ribosomal protein L12 pseudogene 18

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes. Shao ZM, et al. Asian J Androl, 2024 Jan 1. PMID 37594300, Free PMC Article
  2. A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia. Huang F, et al. Front Endocrinol (Lausanne), 2023. PMID 37424858, Free PMC Article
  3. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. Bush A, et al. Expert Rev Respir Med, 2012 Dec. PMID 23234452
  4. Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella. Tu C, et al. Sci Rep, 2019 Nov 1. PMID 31676830, Free PMC Article
  5. Role of Dynein Axonemal Heavy Chain 6 Gene Expression as a Possible Biomarker for Huntington's Disease: a Translational Study. Areal LB, et al. J Mol Neurosci, 2017 Dec. PMID 29019003

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
    Title: Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
  2. Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes.
    Title: Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes.
  3. A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia.
    Title: A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia.
  4. Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.
    Title: Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.
  5. Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis.
    Title: Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.
  6. DNAH6 gene expression is down regulated in blood samples of HD patients.
    Title: Role of Dynein Axonemal Heavy Chain 6 Gene Expression as a Possible Biomarker for Huntington's Disease: a Translational Study.
  7. DNAH6 role in heterotaxy and primary ciliary dyskinesia:DNAH6 is required for motile cilia function mediating airway clearance
    Title: DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
EBI GWAS Catalog

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

Homology

Clone Names

  • FLJ23529, FLJ37357, KIAA1697, MGC132544, MGC141984, MGC177197, DKFZp667K087

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 cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme IEA
Inferred from Electronic Annotation
more info
  
part_of dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
dynein axonemal heavy chain 6
Names
axonemal beta dynein heavy chain 6
ciliary dynein heavy chain 6
dynein heavy chain-like 1
dynein, axonemal, heavy polypeptide 6

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

  1. NG_050957.1 RefSeqGene

    Range
    61959..365050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001370.2 → NP_001361.1  dynein axonemal heavy chain 6

    See identical proteins and their annotated locations for NP_001361.1

    Status: REVIEWED

    Source sequence(s)
    AC010087, AC096770, AC098975, AC109827
    Consensus CDS
    CCDS46348.1
    UniProtKB/Swiss-Prot
    A0PJN9, B5MEE0, B7ZL99, O95493, Q53QZ1, Q53TE5, Q8N1W6, Q92861, Q96BL6, Q9C0G6, Q9H030, Q9H5E1
    Related
    ENSP00000374045.3, ENST00000389394.8
    Conserved Domains (4) summary
    COG5245
    Location:1119 → 3776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:879 → 1299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1434 → 1760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:3829 → 4154
    Dynein_C; Dynein heavy chain C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    84459572..84819589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532650.4 → XP_011530952.1  dynein axonemal heavy chain 6 isoform X1

    See identical proteins and their annotated locations for XP_011530952.1

    UniProtKB/Swiss-Prot
    A0PJN9, B5MEE0, B7ZL99, O95493, Q53QZ1, Q53TE5, Q8N1W6, Q92861, Q96BL6, Q9C0G6, Q9H030, Q9H5E1
    Conserved Domains (4) summary
    COG5245
    Location:1119 → 3776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:879 → 1299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1434 → 1760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:3829 → 4154
    Dynein_C; Dynein heavy chain C-terminal domain

  2. XM_011532649.3 → XP_011530951.1  dynein axonemal heavy chain 6 isoform X1

    See identical proteins and their annotated locations for XP_011530951.1

    UniProtKB/Swiss-Prot
    A0PJN9, B5MEE0, B7ZL99, O95493, Q53QZ1, Q53TE5, Q8N1W6, Q92861, Q96BL6, Q9C0G6, Q9H030, Q9H5E1
    Conserved Domains (4) summary
    COG5245
    Location:1119 → 3776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:879 → 1299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1434 → 1760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:3829 → 4154
    Dynein_C; Dynein heavy chain C-terminal domain

  3. XM_006711956.3 → XP_006712019.1  dynein axonemal heavy chain 6 isoform X1

    See identical proteins and their annotated locations for XP_006712019.1

    UniProtKB/Swiss-Prot
    A0PJN9, B5MEE0, B7ZL99, O95493, Q53QZ1, Q53TE5, Q8N1W6, Q92861, Q96BL6, Q9C0G6, Q9H030, Q9H5E1
    Conserved Domains (4) summary
    COG5245
    Location:1119 → 3776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:879 → 1299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1434 → 1760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:3829 → 4154
    Dynein_C; Dynein heavy chain C-terminal domain

  4. XM_011532653.2 → XP_011530955.1  dynein axonemal heavy chain 6 isoform X3

    Conserved Domains (5) summary
    pfam03028
    Location:3358 → 4097
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:882 → 1300
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2641 → 2973
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3001 → 3217
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1434 → 1664
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. XM_011532652.2 → XP_011530954.1  dynein axonemal heavy chain 6 isoform X2

    Conserved Domains (5) summary
    pfam03028
    Location:3365 → 4104
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:882 → 1300
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2648 → 2980
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3008 → 3224
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1392 → 1622
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. XM_017003521.2 → XP_016859010.1  dynein axonemal heavy chain 6 isoform X4

  7. XM_017003524.2 → XP_016859013.1  dynein axonemal heavy chain 6 isoform X10

  8. XM_011532660.2 → XP_011530962.1  dynein axonemal heavy chain 6 isoform X9

    Conserved Domains (2) summary
    pfam08393
    Location:882 → 1300
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl21455
    Location:1434 → 1664
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  9. XM_047443589.1 → XP_047299545.1  dynein axonemal heavy chain 6 isoform X7

  10. XM_011532654.1 → XP_011530956.1  dynein axonemal heavy chain 6 isoform X5

    Conserved Domains (5) summary
    pfam03028
    Location:3277 → 4016
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:752 → 1170
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2560 → 2892
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2920 → 3136
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1304 → 1534
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  11. XM_011532655.2 → XP_011530957.1  dynein axonemal heavy chain 6 isoform X6

    Conserved Domains (5) summary
    pfam03028
    Location:3079 → 3818
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:554 → 972
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2362 → 2694
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2722 → 2938
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1106 → 1336
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  12. XM_011532657.1 → XP_011530959.1  dynein axonemal heavy chain 6 isoform X7

    See identical proteins and their annotated locations for XP_011530959.1

    Conserved Domains (5) summary
    pfam03028
    Location:2986 → 3725
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:461 → 879
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2269 → 2601
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2629 → 2845
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1013 → 1243
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  13. XM_047443590.1 → XP_047299546.1  dynein axonemal heavy chain 6 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    84461074..84821356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340888.1 → XP_054196863.1  dynein axonemal heavy chain 6 isoform X1

  2. XM_054340887.1 → XP_054196862.1  dynein axonemal heavy chain 6 isoform X1

  3. XM_054340891.1 → XP_054196866.1  dynein axonemal heavy chain 6 isoform X3

  4. XM_054340890.1 → XP_054196865.1  dynein axonemal heavy chain 6 isoform X2

  5. XM_054340892.1 → XP_054196867.1  dynein axonemal heavy chain 6 isoform X4

  6. XM_054340899.1 → XP_054196874.1  dynein axonemal heavy chain 6 isoform X10

  7. XM_054340898.1 → XP_054196873.1  dynein axonemal heavy chain 6 isoform X9

  8. XM_054340889.1 → XP_054196864.1  dynein axonemal heavy chain 6 isoform X1

  9. XM_054340895.1 → XP_054196870.1  dynein axonemal heavy chain 6 isoform X7

  10. XM_054340893.1 → XP_054196868.1  dynein axonemal heavy chain 6 isoform X5

  11. XM_054340894.1 → XP_054196869.1  dynein axonemal heavy chain 6 isoform X6

  12. XM_054340896.1 → XP_054196871.1  dynein axonemal heavy chain 6 isoform X7

  13. XM_054340897.1 → XP_054196872.1  dynein axonemal heavy chain 6 isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173645.1: Suppressed sequence

    Description
    NM_173645.1: This RefSeq was permanently suppressed because the CDS was partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0G6.3 GenPept UniProtKB/Swiss-Prot:Q9C0G6

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