Dynein, Axonemal, Heavy Chain 11

Alternative Names

DNAH11
DNAHC11
DPL11
Dynein, Heavy Chain Beta-Like
DNAHBL

Length

358,801 bases

No. of Exons

No. of isoforms

Protein Name

Dynein axonemal heavy chain 11

Molecular Mass

520369 Da

Amino Acid Count

4516

Genomic Location

chr7:21,543,038-21,901,838

Gene Map Locus

7p15.3

Description

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001277115.1:c.11839+1G>A	United Arab Emirates	NC_000007.14:g.21868008G>A		Pathogenic	Ciliary Dyskinesia, Primary, 7	NG_012886.2:g.329794G>A; NM_001277115.1:c.11839+1G>A; NP_001264044.1:p.?	1783348812
NM_001277115.1:c.13010G>A	United Arab Emirates	NC_000007.14:g.21894960G>A	Uncertain Significance	Likely Benign		NG_012886.2:g.356746G>A; NM_001277115.1:c.13010G>A; NP_001264044.1:p.Ser4337Asn	759646661	835959
NM_001277115.1:c.13120G>A	United Arab Emirates	NC_000007.14:g.21899406G>A	Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 7	NG_012886.2:g.361192G>A; NM_001277115.1:c.13120G>A; NP_001264044.1:p.Val4374Met	560018723	1769687
NM_001277115.1:c.2570G>A	United Arab Emirates	NC_000007.14:g.21591480G>A	Uncertain Significance	Likely Benign		NG_012886.2:g.53266G>A; NM_001277115.1:c.2570G>A; NP_001264044.1:p.Arg857Gln	376572966	969930
NM_001277115.1:c.5132A>G	United Arab Emirates	NC_000007.14:g.21658835A>G	Likely Benign, Uncertain Significance	Likely Benign		NG_012886.2:g.120621A>G; NM_001277115.1:c.5132A>G; NP_001264044.1:p.Gln1711Arg	189432084	219477
NM_001277115.1:c.8072A>G	United Arab Emirates	NC_000007.14:g.21742084A>G	Benign, Uncertain Significance	Likely Benign		NG_012886.2:g.203870A>G; NM_001277115.1:c.8072A>G; NP_001264044.1:p.Gln2691Arg	183682756	525225
NM_001277115.1:c.9238C>A	United Arab Emirates	NC_000007.14:g.21773901C>A				NG_012886.2:g.235687C>A; NM_001277115.1:c.9238C>A; NP_001264044.1:p.Leu3080Met
NM_001277115.1:c.9305G>A	United Arab Emirates	NC_000007.14:g.21773968G>A	Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 7	NG_012886.2:g.235754G>A; NM_001277115.1:c.9305G>A; NP_001264044.1:p.Gly3102Asp	774083447	835960
NM_001277115.2:c.4945-12T>C	United Arab Emirates	NC_000007.14:g.21655820T>C	Likely Benign, Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 7	NG_012886.2:g.117606T>C; NM_001277115.2:c.4945-12T>C; NP_001264044.1:p.?	141572016	257901
NM_001277115.2:c.8230C>T	United Arab Emirates	NC_000007.14:g.21744513C>T	Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 7	NG_012886.2:g.206299C>T; NM_001277115.2:c.8230C>T; NP_001264044.1:p.Arg2744Cys	374826188	834254

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=dnah11 https://www.ncbi.nlm.nih.gov/gene/8701

Contributors

Pratibha Nair: 17.02.2022

Edit History

Pratibha Nair: 31.08.2022
Pratibha Nair: 17.02.2022

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