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DNAH2 dynein axonemal heavy chain 2 [ Homo sapiens (human) ]

Gene ID: 146754, updated on 3-Nov-2024

Summary

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Official Symbol
DNAH2provided by HGNC
Official Full Name
dynein axonemal heavy chain 2provided by HGNC
Primary source
HGNC:HGNC:2948
See related
Ensembl:ENSG00000183914 MIM:603333; AllianceGenome:HGNC:2948
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
DNHD3; DNAHC2; SPGF45
Summary
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in testis (RPKM 2.3), lung (RPKM 0.5) and 2 other tissues See more
Orthologs
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Genomic context

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See DNAH2 in Genome Data Viewer
Location:
17p13.1
Exon count:
93
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7717744..7833742)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7621870..7737847)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7621062..7737060)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11641 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:7589699-7590898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11643 Neighboring gene tumor protein p53 Neighboring gene WD repeat containing antisense to TP53 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:7606219-7607112 and GRCh37_chr17:7607113-7608004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7608898-7609789 Neighboring gene ephrin B3 Neighboring gene ribosomal protein L29 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7736627-7737238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7737869-7738368 Neighboring gene translation initiation factor IF-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7742757-7743257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11647 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:7754177-7755141 and GRCh37_chr17:7755142-7756105 Neighboring gene uncharacterized LOC107987244 Neighboring gene lysine demethylase 6B

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 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. DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella. Li Y, et al. Clin Genet, 2019 May. PMID 30811583
  2. Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella. Gao Y, et al. Reprod Biomed Online, 2021 May. PMID 33771466
  3. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. Chapelin C, et al. FEBS Lett, 1997 Jul 28. PMID 9256245
  4. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. Whitfield M, et al. Am J Hum Genet, 2019 Jul 3. PMID 31178125, Free PMC Article
  5. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Barrett JC, et al. Nat Genet, 2009 Jun. PMID 19430480, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.
    Title: Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.
  2. the DNAH2 mutation can cause severe sperm flagella defects that damage sperm motility.
    Title: DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
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
Spermatogenic failure 45
MedGen: C5436791 OMIM: 619094 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
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)

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

  • FLJ46675, KIAA1503

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 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
involved_in cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium-dependent cell motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium-dependent cell motility NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in 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 
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
part_of dynein complex 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
  
located_in motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm flagellum IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
dynein axonemal heavy chain 2
Names
axonemal beta dynein heavy chain 2
ciliary dynein heavy chain 2
dynein heavy chain 2, axonemal
dynein heavy chain domain-containing protein 3
dynein, axonemal, heavy polypeptide 2

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_001303270.2 → NP_001290199.1  dynein axonemal heavy chain 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains multiple differences in the UTRs and coding region, compared to variant 1. It lacks multiple 3' coding exons and contains an alternate 3' coding region. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC087388, BC034225
    Consensus CDS
    CCDS76937.1
    UniProtKB/Swiss-Prot
    Q9P225
    Related
    ENSP00000460245.1, ENST00000570791.5
    Conserved Domains (1) summary
    pfam08385
    Location:240 → 717
    DHC_N1; Dynein heavy chain, N-terminal region 1

  2. NM_020877.5 → NP_065928.2  dynein axonemal heavy chain 2 isoform 1

    See identical proteins and their annotated locations for NP_065928.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB040936, AC025335, AC087388, BC034225, BQ638815
    Consensus CDS
    CCDS32551.1
    UniProtKB/Swiss-Prot
    A8K992, B5MDX5, O15434, Q6PIH3, Q6ZR42, Q9P225
    Related
    ENSP00000458355.1, ENST00000572933.6
    Conserved Domains (6) summary
    pfam03028
    Location:3724 → 4415
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:240 → 725
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1223 → 1629
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3006 → 3338
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3366 → 3582
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1765 → 1995
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7717744..7833742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435424.1 → XP_047291380.1  dynein axonemal heavy chain 2 isoform X1

  2. XM_011523667.3 → XP_011521969.1  dynein axonemal heavy chain 2 isoform X3

    See identical proteins and their annotated locations for XP_011521969.1

    UniProtKB/Swiss-Prot
    A8K992, B5MDX5, O15434, Q6PIH3, Q6ZR42, Q9P225
    Related
    ENSP00000373825.2, ENST00000389173.6
    Conserved Domains (6) summary
    pfam03028
    Location:3724 → 4415
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:240 → 725
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1223 → 1629
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3006 → 3338
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3366 → 3582
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1765 → 1995
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. XM_011523663.2 → XP_011521965.1  dynein axonemal heavy chain 2 isoform X1

    See identical proteins and their annotated locations for XP_011521965.1

    Conserved Domains (6) summary
    pfam03028
    Location:3806 → 4497
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:240 → 807
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1305 → 1711
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3088 → 3420
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3448 → 3664
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1847 → 2077
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. XM_047435425.1 → XP_047291381.1  dynein axonemal heavy chain 2 isoform X2

  5. XM_017024219.2 → XP_016879708.1  dynein axonemal heavy chain 2 isoform X7

  6. XM_011523670.3 → XP_011521972.1  dynein axonemal heavy chain 2 isoform X8

    Conserved Domains (5) summary
    pfam08385
    Location:240 → 807
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1305 → 1711
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3088 → 3420
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3448 → 3541
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1847 → 2077
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  7. XM_047435426.1 → XP_047291382.1  dynein axonemal heavy chain 2 isoform X4

  8. XM_047435428.1 → XP_047291384.1  dynein axonemal heavy chain 2 isoform X6

  9. XM_047435427.1 → XP_047291383.1  dynein axonemal heavy chain 2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7621870..7737847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315149.1 → XP_054171124.1  dynein axonemal heavy chain 2 isoform X1

  2. XM_054315151.1 → XP_054171126.1  dynein axonemal heavy chain 2 isoform X2

  3. XM_054315152.1 → XP_054171127.1  dynein axonemal heavy chain 2 isoform X3

  4. XM_054315150.1 → XP_054171125.1  dynein axonemal heavy chain 2 isoform X1

  5. XM_054315156.1 → XP_054171131.1  dynein axonemal heavy chain 2 isoform X7

  6. XM_054315157.1 → XP_054171132.1  dynein axonemal heavy chain 2 isoform X8

  7. XM_054315158.1 → XP_054171133.1  dynein axonemal heavy chain 2 isoform X9

  8. XM_054315153.1 → XP_054171128.1  dynein axonemal heavy chain 2 isoform X4

  9. XM_054315155.1 → XP_054171130.1  dynein axonemal heavy chain 2 isoform X6

  10. XM_054315154.1 → XP_054171129.1  dynein axonemal heavy chain 2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P225.3 GenPept UniProtKB/Swiss-Prot:Q9P225

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