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    DNAH7 dynein axonemal heavy chain 7 [ Homo sapiens (human) ]

    Gene ID: 56171, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNAH7provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 7provided by HGNC
    Primary source
    HGNC:HGNC:18661
    See related
    Ensembl:ENSG00000118997 MIM:610061; AllianceGenome:HGNC:18661
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CILD50
    Summary
    DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in testis (RPKM 2.6), thyroid (RPKM 0.9) and 7 other tissues See more
    Orthologs
    all
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    Genomic context

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    See DNAH7 in Genome Data Viewer
    Location:
    2q32.3
    Exon count:
    68
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (195737703..196068837, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (196222043..196559221, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (196602427..196933561, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:196450653-196451242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:196452793-196453292 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:196477499-196478360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12201 Neighboring gene adenosylhomocysteinase pseudogene 5 Neighboring gene solute carrier family 39 member 10 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:196559503-196560702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:196569194-196569694 Neighboring gene RNA, U6 small nuclear 915, pseudogene Neighboring gene uncharacterized LOC107985972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:196608945-196609445 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:196652546-196653745 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:196722945-196724144 Neighboring gene glutathione S-transferase alpha 5 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16891 Neighboring gene E2F transcription factor 3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16892 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:196961660-196962248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16895 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:196977894-196978422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:197023734-197024234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12202 Neighboring gene uncharacterized LOC101927454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16899 Neighboring gene small nucleolar RNA U13 Neighboring gene serine/threonine kinase 17b Neighboring gene HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure. Wei X, et al. Acta Biochim Biophys Sin (Shanghai), 2021 Oct 12. PMID 34476482
    2. Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human. Gao Y, et al. Clin Genet, 2022 Aug. PMID 35543642
    3. Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. Zhang YJ, et al. J Biol Chem, 2002 May 17. PMID 11877439
    4. Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7. Wilken A, et al. Cells, 2024 Jul 15. PMID 39056782, Free PMC Article
    5. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Neesen J, et al. Gene, 1997 Oct 24. PMID 9373155

    See all (25) 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. Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
      Title: Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
    3. Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure.
      Title: Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure.
    4. 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.
    5. These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia.
      Title: Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of 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

    Associated conditions

    Description Tests
    Ciliary dyskinesia, primary, 50
    MedGen: C5830473 OMIM: 620356 GeneReviews: Not available
    		Compare labs

    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

    • FLJ37196, KIAA0944, MGC39580, DKFZp686C09101

    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 calcium ion binding 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 microtubule motor activity IC
    Inferred by Curator
    more info
    		 PubMed 
    enables microtubule motor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within 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 cilium-dependent cell motility NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within inner dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in 9+2 motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of axonemal dynein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of inner dynein arm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of inner dynein arm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal heavy chain 7
    Names
    axonemal beta dynein heavy chain 7
    axonemal dynein heavy chain 7
    ciliary dynein heavy chain 7
    dynein heavy chain 7, axonemal
    dynein heavy chain-like protein 2
    dynein, axonemal, heavy polypeptide 7
    hDHC2

    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.

    mRNA and Protein(s)

    1. NM_018897.3 → NP_061720.2  dynein axonemal heavy chain 7

      See identical proteins and their annotated locations for NP_061720.2

      Status: VALIDATED

      Source sequence(s)
      AC068919, AC114760, AF327442, BP199399, BX117789
      Consensus CDS
      CCDS42794.1
      UniProtKB/Swiss-Prot
      B8ZZX8, O00433, O95492, Q4G152, Q53QX7, Q53S64, Q53T02, Q68CY5, Q8N1Z2, Q8WXX0, Q9UMS3, Q9Y2F3
      Related
      ENSP00000311273.6, ENST00000312428.11
      Conserved Domains (5) summary
      pfam03028
      Location:3322 → 4012
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:763 → 1162
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2586 → 2933
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2962 → 3178
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1290 → 1520
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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
      195737703..196068837 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511488.4 → XP_011509790.1  dynein axonemal heavy chain 7 isoform X1

      Conserved Domains (5) summary
      pfam03028
      Location:3282 → 3972
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:723 → 1122
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2546 → 2893
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2922 → 3138
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1250 → 1480
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_017004504.3 → XP_016859993.1  dynein axonemal heavy chain 7 isoform X4

    3. XM_011511490.4 → XP_011509792.1  dynein axonemal heavy chain 7 isoform X3

      Conserved Domains (5) summary
      pfam03028
      Location:3247 → 3937
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:763 → 1162
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2511 → 2858
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2887 → 3103
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1290 → 1520
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_011511489.3 → XP_011509791.1  dynein axonemal heavy chain 7 isoform X2

      Conserved Domains (5) summary
      pfam03028
      Location:3276 → 3966
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:717 → 1116
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2540 → 2887
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2916 → 3132
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1244 → 1474
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_011511497.3 → XP_011509799.1  dynein axonemal heavy chain 7 isoform X10

      Conserved Domains (4) summary
      pfam03028
      Location:1446 → 2136
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam12777
      Location:710 → 1057
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:1086 → 1302
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:427 → 698
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. XM_011511491.4 → XP_011509793.1  dynein axonemal heavy chain 7 isoform X5

      Conserved Domains (4) summary
      pfam08393
      Location:763 → 1162
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2586 → 2933
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2962 → 2981
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1290 → 1520
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    7. XM_011511494.4 → XP_011509796.1  dynein axonemal heavy chain 7 isoform X8

      Conserved Domains (3) summary
      pfam08393
      Location:763 → 1162
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2586 → 2927
      MT; Microtubule-binding stalk of dynein motor
      cl21455
      Location:1290 → 1520
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    8. XM_011511493.4 → XP_011509795.1  dynein axonemal heavy chain 7 isoform X7

      Conserved Domains (3) summary
      pfam08393
      Location:763 → 1162
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2586 → 2928
      MT; Microtubule-binding stalk of dynein motor
      cl21455
      Location:1290 → 1520
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    9. XM_011511492.4 → XP_011509794.1  dynein axonemal heavy chain 7 isoform X6

      Conserved Domains (1) summary
      COG5245
      Location:959 → 2919
      DYN1; Dynein, heavy chain [Cytoskeleton]

    10. XM_011511495.4 → XP_011509797.1  dynein axonemal heavy chain 7 isoform X9

      Conserved Domains (1) summary
      COG5245
      Location:959 → 2805
      DYN1; Dynein, heavy chain [Cytoskeleton]

    RNA

    1. XR_922968.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      196222043..196559221 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343021.1 → XP_054198996.1  dynein axonemal heavy chain 7 isoform X11

    2. XM_054343022.1 → XP_054198997.1  dynein axonemal heavy chain 7 isoform X2

    3. XM_054343028.1 → XP_054199003.1  dynein axonemal heavy chain 7 isoform X10

    4. XM_054343023.1 → XP_054198998.1  dynein axonemal heavy chain 7 isoform X5

    5. XM_054343026.1 → XP_054199001.1  dynein axonemal heavy chain 7 isoform X8

    6. XM_054343025.1 → XP_054199000.1  dynein axonemal heavy chain 7 isoform X7

    7. XM_054343024.1 → XP_054198999.1  dynein axonemal heavy chain 7 isoform X6

    8. XM_054343027.1 → XP_054199002.1  dynein axonemal heavy chain 7 isoform X9

    RNA

    1. XR_008486459.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXX0.2 GenPept UniProtKB/Swiss-Prot:Q8WXX0

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