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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
    mouse all
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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
    		Compare labs

    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 Variation Viewer (GRCh37.p13)

    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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