1. Gene
  2. DNAH8 - dynein axonemal heavy chain 8 Gene

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_N1: Dynein heavy chain, N-terminal region 1 (135 - 693)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1268 - 1677)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1808 - 2039)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (2124 - 2259)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2427 - 2691)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2788 - 3052)

MT

MT: Microtubule-binding stalk of dynein motor (3065 - 3412)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3431 - 3661)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3798 - 4488)

  • 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

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