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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
    mouse all
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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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