DNAH7 dynein axonemal heavy chain 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAH7provided by HGNC
Official Full Name: dynein axonemal heavy chain 7provided by HGNC
Primary source: HGNC:HGNC:18661
See related: Ensembl:ENSG00000118997 MIM:610061; AllianceGenome:HGNC:18661
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CILD50
Summary: DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in testis (RPKM 2.6), thyroid (RPKM 0.9) and 7 other tissues See more
Orthologs: all
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Genomic context

Location:: 2q32.3

Exon count:: 68

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (195737703..196068837, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (196222043..196559221, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (196602427..196933561, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
Title: Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
Title: Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure.
Title: Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia.
Title: Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ciliary dyskinesia, primary, 50 MedGen: C5830473 OMIM: 620356 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92946 (e-PCR)
- UniSTS:92929

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

L17877 (e-PCR)
- UniSTS:61334

RH119823 (e-PCR)
- UniSTS:133568

Clone Names

FLJ37196, KIAA0944, MGC39580, DKFZp686C09101

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	IC Inferred by Curator more info	PubMed
enables microtubule motor activity	NAS Non-traceable Author Statement more info	PubMed
enables minus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium-dependent cell motility	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within inner dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
part_of axonemal dynein complex	NAS Non-traceable Author Statement more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
part_of inner dynein arm	IBA Inferred from Biological aspect of Ancestor more info
part_of inner dynein arm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynein axonemal heavy chain 7

Names: axonemal beta dynein heavy chain 7; axonemal dynein heavy chain 7; ciliary dynein heavy chain 7; dynein heavy chain 7, axonemal; dynein heavy chain-like protein 2; dynein, axonemal, heavy polypeptide 7; hDHC2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018897.3 → NP_061720.2 dynein axonemal heavy chain 7

See identical proteins and their annotated locations for NP_061720.2

Status: VALIDATED

Source sequence(s)

AC068919, AC114760, AF327442, BP199399, BX117789

Consensus CDS

CCDS42794.1

UniProtKB/Swiss-Prot

B8ZZX8, O00433, O95492, Q4G152, Q53QX7, Q53S64, Q53T02, Q68CY5, Q8N1Z2, Q8WXX0, Q9UMS3, Q9Y2F3

Related

ENSP00000311273.6, ENST00000312428.11

Conserved Domains (5) summary

pfam03028
Location:3322 → 4012

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08393
Location:763 → 1162

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2586 → 2933

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:2962 → 3178

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1290 → 1520

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

195737703..196068837 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011511488.4 → XP_011509790.1 dynein axonemal heavy chain 7 isoform X1

Conserved Domains (5) summary

pfam03028
Location:3282 → 3972

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08393
Location:723 → 1122

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2546 → 2893

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:2922 → 3138

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1250 → 1480

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017004504.3 → XP_016859993.1 dynein axonemal heavy chain 7 isoform X4
XM_011511490.4 → XP_011509792.1 dynein axonemal heavy chain 7 isoform X3

Conserved Domains (5) summary

pfam03028
Location:3247 → 3937

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08393
Location:763 → 1162

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2511 → 2858

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:2887 → 3103

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1290 → 1520

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011511489.3 → XP_011509791.1 dynein axonemal heavy chain 7 isoform X2

Conserved Domains (5) summary

pfam03028
Location:3276 → 3966

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08393
Location:717 → 1116

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2540 → 2887

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:2916 → 3132

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1244 → 1474

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011511497.3 → XP_011509799.1 dynein axonemal heavy chain 7 isoform X10

Conserved Domains (4) summary

pfam03028
Location:1446 → 2136

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam12777
Location:710 → 1057

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:1086 → 1302

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:427 → 698

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011511491.4 → XP_011509793.1 dynein axonemal heavy chain 7 isoform X5

Conserved Domains (4) summary

pfam08393
Location:763 → 1162

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2586 → 2933

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:2962 → 2981

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1290 → 1520

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011511494.4 → XP_011509796.1 dynein axonemal heavy chain 7 isoform X8

Conserved Domains (3) summary

pfam08393
Location:763 → 1162

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2586 → 2927

MT; Microtubule-binding stalk of dynein motor

cl21455
Location:1290 → 1520

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011511493.4 → XP_011509795.1 dynein axonemal heavy chain 7 isoform X7

Conserved Domains (3) summary

pfam08393
Location:763 → 1162

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2586 → 2928

MT; Microtubule-binding stalk of dynein motor

cl21455
Location:1290 → 1520

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011511492.4 → XP_011509794.1 dynein axonemal heavy chain 7 isoform X6

Conserved Domains (1) summary

COG5245
Location:959 → 2919

DYN1; Dynein, heavy chain [Cytoskeleton]
XM_011511495.4 → XP_011509797.1 dynein axonemal heavy chain 7 isoform X9

Conserved Domains (1) summary

COG5245
Location:959 → 2805

DYN1; Dynein, heavy chain [Cytoskeleton]