DNAH8 - dynein axonemal heavy chain 8 Gene

Also Known as hdhc9; ATPase; SPGF46

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1769

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	References	Source
enables microtubule motor activity	IMP IMP: Inferred from mutant phenotype	32619401	GOA

Cellular Component GO Annotation	Evidence	References	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

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 Set	/	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
Others	DNAH8	NCBI