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

Gene ID: 56171, updated on 11-Apr-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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Location:
2q32.3
Exon count:
68
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (195737703..196068837, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (196222043..196559221, complement)
105.20220307 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: 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. 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
  2. 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
  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. 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
  5. Screen identifies bromodomain protein ZMYND8 in chromatin recognition of transcription-associated DNA damage that promotes homologous recombination. Gong F, et al. Genes Dev, 2015 Jan 15. PMID 25593309, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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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