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Gene

DNAH2

dynein axonemal heavy chain 2

Summary

Cytogenetic location
17p13.1
Coordinates
Chromosome 17: 7,717,744–7,833,742 (GRCh38)
Exons
86 exons across 116 kb
Protein
4,427 amino acids
Also known as
KIAA1503, FLJ46675
Previous symbols
DNHD3
MANE Select transcript
ENST00000572933.6NM_020877.5
Locus type
Protein-coding

Curated report relevant to this gene

  • Male Infertility

    • The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.

      • 1 GenCC submitter rates it definitive or strong

How DNAH2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where DNAH2 sits. DNAH2 and 63 genes near it on chromosome 17, from 7,275,743 to 8,275,742.Chromosome 1717p13.1p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.37.4 Mb7.6 Mb7.8 Mb8 Mb8.2 MbSLC2A4: 7,281,664–7,289,241, forward strandYBX2: 7,288,253–7,294,750, reverse strandYBX2EIF5A: 7,306,944–7,312,506, forward strandGPS2: 7,309,470–7,315,564, reverse strand: 7,312,661–7,319,174, reverse strandNEURL4: 7,315,628–7,329,393, reverse strandNEURL4ACAP1: 7,332,960–7,351,478, forward strandKCTD11: 7,351,889–7,354,944, forward strandKCTD11TMEM95: 7,355,123–7,357,219, forward strandTMEM95TNK1: 7,380,534–7,389,779, forward strandTNK1PLSCR3: 7,389,727–7,397,054, reverse strandPLSCR3TMEM256-PLSCR3: 7,389,734–7,404,097, reverse strandTMEM256: 7,402,774–7,404,138, reverse strandNLGN2: 7,404,684–7,419,860, forward strandSPEM1: 7,420,323–7,421,637, forward strandSPEM2: 7,425,563–7,427,568, forward strandSPEM3: 7,428,857–7,432,820, forward strand: 7,428,861–7,436,278, forward strandTMEM102: 7,435,344–7,437,679, forward strandFGF11: 7,438,128–7,444,937, forward strandFGF11CHRNB1: 7,445,004–7,457,710, forward strandCHRNB1ZBTB4: 7,459,366–7,484,278, reverse strandZBTB4SLC35G6: 7,481,446–7,483,496, forward strandSLC35G6POLR2A: 7,484,366–7,514,616, forward strandPOLR2ATNFSF12: 7,548,508–7,557,890, forward strandTNFSF12-TNFSF13: 7,549,099–7,561,601, forward strandTNFSF13: 7,558,251–7,561,660, forward strandSENP3: 7,561,867–7,571,969, forward strandSENP3-EIF4A1: 7,563,287–7,578,715, forward strandEIF4A1: 7,572,718–7,579,007, forward strandCD68: 7,579,380–7,582,515, forward strandMPDU1: 7,583,214–7,594,419, forward strandSOX15: 7,588,178–7,590,101, reverse strandSOX15FXR2: 7,591,230–7,614,916, reverse strandFXR2SHBG: 7,613,946–7,633,469, forward strandSHBGSAT2: 7,626,234–7,627,879, reverse strandSAT2ATP1B2: 7,646,627–7,657,771, forward strandATP1B2TP53: 7,661,779–7,687,546, reverse strandTP53WRAP53: 7,686,071–7,703,505, forward strandWRAP53EFNB3: 7,705,172–7,711,372, forward strandEFNB3DNAH2: 7,717,744–7,833,742, forward strandDNAH2KDM6B: 7,834,193–7,854,808, forward strandKDM6BTMEM88: 7,855,057–7,856,114, forward strandTMEM88NAA38: 7,856,681–7,885,238, reverse strandNAA38CYB5D1: 7,857,696–7,862,282, forward strandCYB5D1CHD3: 7,884,787–7,912,760, forward strandCHD3RNF227: 7,913,238–7,916,377, reverse strandKCNAB3: 7,920,956–7,929,856, reverse strandKCNAB3: 7,925,931–7,930,622, reverse strandTRAPPC1: 7,930,345–7,932,123, reverse strandTRAPPC1CNTROB: 7,932,101–7,949,953, forward strandGUCY2D: 8,002,615–8,020,342, forward strandGUCY2DALOX15B: 8,039,011–8,049,134, forward strandALOX15BALOX12B: 8,068,594–8,087,716, reverse strandALOX12BALOXE3: 8,095,900–8,119,047, reverse strandALOXE3HES7: 8,120,592–8,124,114, reverse strandHES7PER1: 8,140,467–8,156,506, reverse strandPER1: 8,150,816–8,162,975, reverse strandVAMP2: 8,159,149–8,163,584, reverse strandVAMP2TMEM107: 8,172,440–8,176,408, reverse strandTMEM107BORCS6: 8,188,345–8,190,180, reverse strandAURKB: 8,204,335–8,210,638, reverse strandAURKBCTC1: 8,224,815–8,248,075, reverse strandCTC1PFAS: 8,247,618–8,271,150, forward strandPFASDiagram of DNAH2: 86 exons on the forward strand of chromosome 17Exon 20: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 57: 1 known disease-causing siteExon 76: 1 known disease-causing siteExon 1: 7,717,744–7,718,799, 1,056 basesExon 2: 7,719,721–7,719,900, 180 basesExon 3: 7,723,628–7,723,689, 62 basesExon 4: 7,727,122–7,727,292, 171 basesExon 5: 7,733,087–7,733,315, 229 basesExon 6: 7,734,183–7,734,293, 111 basesExon 7: 7,734,470–7,734,708, 239 basesExon 8: 7,737,067–7,737,258, 192 basesExon 9: 7,739,733–7,739,938, 206 basesExon 10: 7,740,420–7,740,549, 130 basesExon 11: 7,740,810–7,740,992, 183 basesExon 12: 7,742,928–7,743,142, 215 basesExon 13: 7,757,091–7,757,237, 147 basesExon 14: 7,758,495–7,758,651, 157 basesExon 15: 7,758,885–7,759,124, 240 basesExon 16: 7,759,422–7,759,610, 189 basesExon 17: 7,759,791–7,759,938, 148 basesExon 18: 7,760,740–7,760,932, 193 basesExon 19: 7,763,831–7,764,031, 201 basesExon 20: 7,764,117–7,764,273, 157 basesExon 21: 7,765,391–7,765,565, 175 basesExon 22: 7,766,318–7,766,481, 164 basesExon 23: 7,767,900–7,768,061, 162 basesExon 24: 7,768,164–7,768,267, 104 basesExon 25: 7,770,252–7,770,408, 157 basesExon 26: 7,770,557–7,770,639, 83 basesExon 27: 7,770,753–7,770,933, 181 basesExon 28: 7,771,330–7,771,468, 139 basesExon 29: 7,774,759–7,774,976, 218 basesExon 30: 7,775,241–7,775,342, 102 basesExon 31: 7,776,024–7,776,149, 126 basesExon 32: 7,776,779–7,776,889, 111 basesExon 33: 7,777,446–7,777,634, 189 basesExon 34: 7,778,077–7,778,180, 104 basesExon 35: 7,778,280–7,778,469, 190 basesExon 36: 7,779,243–7,779,423, 181 basesExon 37: 7,780,157–7,780,284, 128 basesExon 38: 7,780,630–7,780,782, 153 basesExon 39: 7,781,042–7,781,167, 126 basesExon 40: 7,786,124–7,786,342, 219 basesExon 41: 7,786,570–7,786,687, 118 basesExon 42: 7,786,897–7,787,033, 137 basesExon 43: 7,787,860–7,787,997, 138 basesExon 44: 7,788,086–7,788,244, 159 basesExon 45: 7,791,917–7,792,069, 153 basesExon 46: 7,792,252–7,792,343, 92 basesExon 47: 7,792,657–7,792,855, 199 basesExon 48: 7,792,981–7,793,205, 225 basesExon 49: 7,794,254–7,794,358, 105 basesExon 50: 7,796,464–7,796,652, 189 basesExon 51: 7,797,176–7,797,261, 86 basesExon 52: 7,797,400–7,797,530, 131 basesExon 53: 7,797,680–7,797,829, 150 basesExon 54: 7,798,157–7,798,324, 168 basesExon 55: 7,798,558–7,798,718, 161 basesExon 56: 7,799,103–7,799,242, 140 basesExon 57: 7,801,578–7,801,710, 133 basesExon 58: 7,801,878–7,802,017, 140 basesExon 59: 7,804,256–7,804,466, 211 basesExon 60: 7,804,958–7,805,074, 117 basesExon 61: 7,805,252–7,805,393, 142 basesExon 62: 7,807,150–7,807,319, 170 basesExon 63: 7,807,470–7,807,586, 117 basesExon 64: 7,816,571–7,816,735, 165 basesExon 65: 7,817,290–7,817,415, 126 basesExon 66: 7,817,561–7,817,709, 149 basesExon 67: 7,817,790–7,817,856, 67 basesExon 68: 7,817,946–7,818,096, 151 basesExon 69: 7,818,312–7,818,460, 149 basesExon 70: 7,818,643–7,818,776, 134 basesExon 71: 7,818,919–7,819,063, 145 basesExon 72: 7,819,209–7,819,408, 200 basesExon 73: 7,821,243–7,821,369, 127 basesExon 74: 7,823,442–7,823,628, 187 basesExon 75: 7,823,834–7,823,982, 149 basesExon 76: 7,824,121–7,824,304, 184 basesExon 77: 7,824,537–7,824,727, 191 basesExon 78: 7,830,300–7,830,491, 192 basesExon 79: 7,830,658–7,830,842, 185 basesExon 80: 7,831,086–7,831,314, 229 basesExon 81: 7,831,390–7,831,541, 152 basesExon 82: 7,831,661–7,831,775, 115 basesExon 83: 7,832,579–7,832,755, 177 basesExon 84: 7,832,854–7,832,928, 75 basesExon 85: 7,833,071–7,833,221, 151 basesExon 86: 7,833,379–7,833,742, 364 bases1255075865′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 14.6 kb of the gene's 116 kb; 13,284 of those bases code for the protein.

Sequencing DNAH2

8

positions in DNAH2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 116 kb of DNAH2, introns included, not only the 14.6 kb of exons.

ClinVar pathogenic variants (8)

The DNAH2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Pathogenic 1
  • Likely pathogenic 7
VariantConditionsClinVar classificationReview status
NM_020877.5(DNAH2):c.11644C>T (p.Arg3882Ter) (opens in a new tab)spermatogenic failure 45Pathogenic1 star out of 4 criteria provided, single submitter
NM_020877.5(DNAH2):c.3226C>T (p.Gln1076Ter) (opens in a new tab)spermatogenic failure 45Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_020877.5(DNAH2):c.3817A>T (p.Lys1273Ter) (opens in a new tab)spermatogenic failure 45Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_020877.5(DNAH2):c.4569T>G (p.Tyr1523Ter) (opens in a new tab)spermatogenic failure 45Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys) (opens in a new tab)spermatogenic failure 45Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_020877.5(DNAH2):c.7145+1G>A (opens in a new tab)spermatogenic failure 45Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_020877.5(DNAH2):c.8706G>A (p.Trp2902Ter) (opens in a new tab)spermatogenic failure 45Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_020877.5(DNAH2):c.12460-2A>G (opens in a new tab)spermatogenic failure 45Likely pathogenic1 star out of 4 criteria provided, single submitter

Genes linked to the same conditions

Traits linked to DNAH2

The Human Phenotype Ontology lists these as features of the rare conditions DNAH2 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). DNAH2 gene: dynein axonemal heavy chain 2. Retrieved 18 October 2026, from https://dantelabs.com/genes/dnah2

Vancouver

Dante Labs. DNAH2 gene: dynein axonemal heavy chain 2 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/dnah2

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