DNAH8 - dynein axonemal heavy chain 8 Gene

Homo sapiens

Also known as hdhc9; ATPase; SPGF46

Gene ID: 1769 | Gene type: protein coding

About DNAH8

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:38,715,311-39,030,792 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues, 15 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 4.6), prostate (RPKM 0.5) and 2 other tissues.

Summary

The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

DNAH8 Products(2)

mRNA	Protein	Name
NM_001206927.2	NP_001193856.1	dynein axonemal heavy chain 8 isoform 1
NM_001371.4	NP_001362.2	dynein axonemal heavy chain 8 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables microtubule motor activity	IMP IMP: Inferred from mutant phenotype	32619401	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in axoneme	IDA IDA: Inferred from direct assay	31178125	GOA
located in axoneme	IMP IMP: Inferred from mutant phenotype	32619401	GOA
located in sperm flagellum	IDA IDA: Inferred from direct assay	31178125	GOA
located in sperm flagellum	IMP IMP: Inferred from mutant phenotype	32619401	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAH8 Protein Structure

DHC_N1

DHC_N2

AAA_6

AAA_5

AAA_7

AAA_8

AAA_9

Dynein_heavy

0
700
1400
2100
2800
3500
4200
4490 a.a.

Protein Preferred Names

Protein Names

dynein axonemal heavy chain 8

axonemal beta dynein heavy chain 8

Related Diseases

Diseases

Alias

Spermatogenic Failure 46

SPGF46

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Colchicine Resistance

Colchicine Sensitivity

Clcs

Mitochondrial Complex V Deficiency, Nuclear Type 1

MC5DN1	MC1DN5
Mitochondrial Complex V Deficiency, Atpaf2 Type	Mitochondrial Complex I Deficiency, Nuclear Type 5
Atpase Deficiency	Mitochondrial Complex 1 Deficiency, Nuclear Type 5
Nuclear Type Mitochondrial Complex I Deficiency 5	Mitochondrial Complex V Deficiency, Nuclear Type 1
Atpaf2 Deficiency	Atp Synthase Deficiency
Complex 5 Mitochondrial Respiratory Chain Deficiency	Complex V Mitochondrial Respiratory Chain Deficiency
Mitochondrial Complex V Deficiency Type 1	Mitochondrial Complex V Deficiency, Nuclear, Type 1
Complex V Deficiency

Wilson Disease

Hepatolenticular Degeneration	WD
Wilson'S Disease	WND
Westphal-Strumpell Syndrome	Copper Storage Disease
Cerebral Pseudosclerosis	Westphal Pseudosclerosis
Hepatolenticular Degeneration Syndrome	Copper Retention
Hepatocerebral Degeneration	Kinnier-Wilson Disease
Neurohepatic Degeneration	Progressive Hepatolenticular Degeneration
Lenticular Degenerative Disease	Wilson'S Syndrome
Lenticular Syndrome

Werner Syndrome

Werner'S Syndrome	WRN
Adult Progeria	Ws
Adult Premature Ageing Syndrome	Adult Premature Aging Syndrome
Werners Syndrome

Bloom Syndrome

BLM	Bs
Bls	Bloom-Torre-Machacek Syndrome
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1	Mgrisce1
Congenital Telangiectatic Erythema	Congenital Telangiectatic Erythema Syndrome
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability	Bloom'S Syndrome
Bsyn

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Zollinger-Ellison Syndrome

Gastrinoma	Pancreatic Ulcerogenic Tumor Syndrome
Z E Syndrome	Zes
Ze - [Zollinger-Ellison] Syndrome

Infertility

Menkes Disease

Copper Transport Disease	Menkes Syndrome
MNK	Kinky Hair Disease
Steely Hair Disease	Menkes Kinky-Hair Syndrome
Mk	Steely Hair Syndrome
Menkea Syndrome	Md
Menkes Kinky Hair Syndrome	Hypocupremia, Congenital
Kinky Hair Syndrome	X-Linked Copper Deficiency
Menkes Kinky Hair Disease

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Japanese Encephalitis

Japanese B Encephalitis	Je
Encephalitis Japanese	Encephalitis, Japanese
Russian Autumnal Encephalitis	Je - [Japanese Encephalitis]
Japanese Encephalitis Virus Disease	Jbe - [Japanese B Encephalitis}
B Type Encephalitis

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Neonatal Diabetes

Neonatal Diabetes Mellitus	Diabetes Mellitus Syndrome In Newborn Infant
Ndm

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Distal Renal Tubular Acidosis

Classic Rta	Familial Distal Primary Acidosis
Renal Tubular Acidosis Type 1	Drta
Renal Tubular Acidosis, Distal

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03853	DNAH8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DNAH8	VGNC	VGNC:82417
Rattus norvegicus	DNAH8	RGD	RGD:619986
Canis familiaris	DNAH8	VGNC	VGNC:40018
Mus musculus	DNAH8	MGD	MGI:107714
Macaca mulatta	DNAH8	VGNC	VGNC:71943
Bos taurus	DNAH8	VGNC	VGNC:28127

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