DYNC2H1 dynein cytoplasmic 2 heavy chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DYNC2H1provided by HGNC
Official Full Name: dynein cytoplasmic 2 heavy chain 1provided by HGNC
Primary source: HGNC:HGNC:2962
See related: Ensembl:ENSG00000187240 MIM:603297; AllianceGenome:HGNC:2962
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATD3; DHC2; DHC1b; DNCH2; DYH1B; SRTD3; SRPS2B; hdhc11
Summary: This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
Expression: Broad expression in testis (RPKM 4.1), thyroid (RPKM 3.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.3

Exon count:: 90

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (103109426..103479863)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (103113153..103483765)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102980155..103350591)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Title: Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.
Title: Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.
Title: DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.
Radiological and histopathological features of short ribpolydactyly syndrome type III and identification of two novel DYNC2H1 variants.
Title: Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Title: DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
we identified the nuclear transportation of DNA repair proteins by DHC2 as a critical regulator of acquired temozolomide resistance in MGMT-deficient glioblastoma
Title: Acquired temozolomide resistance in MGMT-deficient glioblastoma cells is associated with regulation of DNA repair by DHC2.
Molecular analyses using whole exome sequencing in one family revealed that the patient is compound heterozygote in DYNC2H1 gene for a frame-shift mutation c.4458delT resulting in premature stop-codon p.Phe1486Leufs*11 and a missense mutation c.9044A>G (p.Asp3015Gly)
Title: Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.
Pathogenic germline and somatic variants of DYNC2H1 associated with hypothalamic hamartoma were found.
Title: Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
This is the first report of prenatal diagnosis of DYNC2H1 mutations causing Short-rib polydactyly syndrome (SRPS) Type III in a fetus with increased BPD associated with polyhydramnios in China.
Title: Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations.
Title: Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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
Asphyxiating thoracic dystrophy 3 MedGen: C0036069 OMIM: 613091 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of selenium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Dynein heavy chain knockdown by siRNA enhances HIV-1 infectivity in TRIMCyp-expressing HeLa cells but not in TRIMCyp-expressing owl monkey cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	HIV-1 CA uncoating is delayed in the presence of ciliobrevin D, a specific inhibitor of dynein-mediated motor function, indicating that dynein is involved in CA uncoating in cells	PubMed
	gag	Dynein heavy chain depletion causes the accumulation of HIV-1 CA cores in infected cells and relocates their subcellular distribution from the vicinity of the nucleus to the cell periphery	PubMed
reverse transcriptase	gag-pol	Dynein heavy chain (DHC) depletion causes reduced levels of HIV-1 reverse transcribed DNA in infected cells, suggesting RT activity is regulated by DHC	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123744 (e-PCR)
- UniSTS:137766

SHGC-68668 (e-PCR)
- UniSTS:100661

SHGC-145992 (e-PCR)
- UniSTS:174924

SHGC-145993 (e-PCR)
- UniSTS:174925

SHGC-34226 (e-PCR)
- UniSTS:40297

G32777 (e-PCR)
- UniSTS:117357

G59008 (e-PCR)
- UniSTS:136332

A009Q21 (e-PCR)
- UniSTS:1697

D11S1873 (e-PCR)
- UniSTS:149434

D11S2814 (e-PCR)
- UniSTS:152004

D11S2308E (e-PCR)
- UniSTS:70385

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 cytoskeletal motor activity	NAS Non-traceable Author Statement more info	PubMed
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
contributes_to minus-end-directed microtubule motor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in intraciliary retrograde transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cilium	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in spinal cord motor neuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary tip	TAS Traceable Author Statement more info
located_in cilium	TAS Traceable Author Statement more info
part_of cytoplasmic dynein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cytoplasmic dynein complex	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cytoplasmic dynein 2 heavy chain 1

Names: dynein cytoplasmic heavy chain 2; dynein heavy chain 11; dynein heavy chain, isotype 1B; dynein, cytoplasmic, heavy polypeptide 2

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.

Genomic

NG_016423.2 RefSeqGene

Range

4996..375433

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080463.2 → NP_001073932.1 cytoplasmic dynein 2 heavy chain 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AP000817, AP001486, AP002829, AP002961, AP003382, AP003461

Consensus CDS

CCDS44717.1

UniProtKB/TrEMBL

B0I1S0

Related

ENSP00000497174.1, ENST00000650373.2

Conserved Domains (7) summary

pfam03028
Location:3622 → 4303

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam07728
Location:1974 → 2110

AAA_5; AAA domain (dynein-related subfamily)

pfam08385
Location:162 → 639

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1120 → 1519

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2897 → 3229

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3253 → 3474

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1651 → 1881

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001377.3 → NP_001368.2 cytoplasmic dynein 2 heavy chain 1 isoform 1

See identical proteins and their annotated locations for NP_001368.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an in-frame exon in the 3' coding region, compared to variant 2. This results in a protein (isoform 1) that is seven aa shorter than isoform 2.

Source sequence(s)

AP000817, AP001486, AP002829, AP002961, AP003382, AP003461

Consensus CDS

CCDS53701.1

UniProtKB/Swiss-Prot

O00432, Q16693, Q3C1U8, Q4AC93, Q6ZMX7, Q6ZUM6, Q7Z363, Q8N977, Q8NCM8, Q92815, Q9HAE4

UniProtKB/TrEMBL

B0I1S0

Related

ENSP00000364887.2, ENST00000375735.7

Conserved Domains (7) summary

pfam03028
Location:3615 → 4296

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam07728
Location:1974 → 2110

AAA_5; AAA domain (dynein-related subfamily)

pfam08385
Location:162 → 639

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1120 → 1519

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2897 → 3229

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3253 → 3467

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1651 → 1881

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

103109426..103479863

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018291.2 → XP_016873780.1 cytoplasmic dynein 2 heavy chain 1 isoform X2

UniProtKB/TrEMBL

B0I1S0
XM_006718903.3 → XP_006718966.1 cytoplasmic dynein 2 heavy chain 1 isoform X1

UniProtKB/TrEMBL

B0I1S0

Conserved Domains (7) summary

pfam03028
Location:3608 → 4289

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam07728
Location:1974 → 2110

AAA_5; AAA domain (dynein-related subfamily)

pfam08385
Location:162 → 639

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1120 → 1519

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2890 → 3222

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3246 → 3460

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1651 → 1881

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017018293.2 → XP_016873782.1 cytoplasmic dynein 2 heavy chain 1 isoform X4
XM_017018292.2 → XP_016873781.1 cytoplasmic dynein 2 heavy chain 1 isoform X3

UniProtKB/TrEMBL

B0I1S0

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

103113153..103483765

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369941.1 → XP_054225916.1 cytoplasmic dynein 2 heavy chain 1 isoform X2

UniProtKB/TrEMBL

B0I1S0
XM_054369940.1 → XP_054225915.1 cytoplasmic dynein 2 heavy chain 1 isoform X1

UniProtKB/TrEMBL

B0I1S0
XM_054369943.1 → XP_054225918.1 cytoplasmic dynein 2 heavy chain 1 isoform X4
XM_054369942.1 → XP_054225917.1 cytoplasmic dynein 2 heavy chain 1 isoform X3

UniProtKB/TrEMBL

B0I1S0

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_024606.2: Suppressed sequence

Description

NM_024606.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.