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

Gene ID: 146754, updated on 25-Nov-2021

Summary

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
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

See DNAH2 in Genome Data Viewer
Location:
17p13.1
Exon count:
92
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7717744..7833742)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7621062..7737060)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tumor protein p53 Neighboring gene WD repeat containing antisense to TP53 Neighboring gene ephrin B3 Neighboring gene ribosomal protein L29 pseudogene 2 Neighboring gene uncharacterized LOC105371516 Neighboring gene uncharacterized LOC107987244 Neighboring gene Sharpr-MPRA regulatory region 3930 Neighboring gene lysine demethylase 6B

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
GeneReviews: Not available
Spermatogenic failure 45
MedGen: C5436791 OMIM: 619094 GeneReviews: Not available
not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
Process Evidence Code Pubs
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 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
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
PubMed 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
part_of dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of inner dynein arm IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001303270.2NP_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:240717
    DHC_N1; Dynein heavy chain, N-terminal region 1
  2. NM_020877.5NP_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
    Q9P225
    Related
    ENSP00000458355.1, ENST00000572933.5
    Conserved Domains (6) summary
    pfam03028
    Location:37244415
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:240725
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:12231629
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:30063338
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:33663582
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:17651995
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450605.1XP_024306373.1  dynein axonemal heavy chain 2 isoform X1

    Conserved Domains (5) summary
    pfam03028
    Location:38104411
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:242799
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13091710
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25732
    Location:10051537
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:13744190
    MT; Microtubule-binding stalk of dynein motor
  2. XM_011523667.2XP_011521969.1  dynein axonemal heavy chain 2 isoform X5

    See identical proteins and their annotated locations for XP_011521969.1

    UniProtKB/Swiss-Prot
    Q9P225
    Related
    ENSP00000373825.2, ENST00000389173.6
    Conserved Domains (6) summary
    pfam03028
    Location:37244415
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:240725
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:12231629
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:30063338
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:33663582
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:17651995
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_024450604.1XP_024306372.1  dynein axonemal heavy chain 2 isoform X1

    Conserved Domains (5) summary
    pfam03028
    Location:38104411
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:242799
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13091710
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25732
    Location:10051537
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:13744190
    MT; Microtubule-binding stalk of dynein motor
  4. XM_011523663.1XP_011521965.1  dynein axonemal heavy chain 2 isoform X2

    See identical proteins and their annotated locations for XP_011521965.1

    Conserved Domains (6) summary
    pfam03028
    Location:38064497
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:240807
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13051711
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:30883420
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:34483664
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:18472077
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_024450606.1XP_024306374.1  dynein axonemal heavy chain 2 isoform X3

    Conserved Domains (5) summary
    pfam03028
    Location:37474348
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:242799
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13091710
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25732
    Location:10051537
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:13744127
    MT; Microtubule-binding stalk of dynein motor
  6. XM_024450607.1XP_024306375.1  dynein axonemal heavy chain 2 isoform X4

    Conserved Domains (5) summary
    pfam03028
    Location:37284329
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:242717
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:12271628
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25732
    Location:9231455
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:12924108
    MT; Microtubule-binding stalk of dynein motor
  7. XM_017024219.1XP_016879708.1  dynein axonemal heavy chain 2 isoform X9

  8. XM_011523670.2XP_011521972.1  dynein axonemal heavy chain 2 isoform X10

    Conserved Domains (5) summary
    pfam08385
    Location:240807
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13051711
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:30883420
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:34483541
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:18472077
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  9. XM_024450608.1XP_024306376.1  dynein axonemal heavy chain 2 isoform X6

    Conserved Domains (5) summary
    pfam03028
    Location:32743875
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:5263
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:7731174
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25732
    Location:4691001
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:8383654
    MT; Microtubule-binding stalk of dynein motor
  10. XM_024450610.1XP_024306378.1  dynein axonemal heavy chain 2 isoform X8

    Conserved Domains (5) summary
    pfam03028
    Location:31423743
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:1131
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:6411042
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25732
    Location:337869
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:7063522
    MT; Microtubule-binding stalk of dynein motor
  11. XM_024450609.1XP_024306377.1  dynein axonemal heavy chain 2 isoform X7

    Conserved Domains (5) summary
    pfam03028
    Location:31453746
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:54134
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:6441045
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25732
    Location:340872
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:7093525
    MT; Microtubule-binding stalk of dynein motor
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