DYNC2H1

GENE INFORMATION

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Gene name

DYNC2H1 (HGNC Symbol)

Synonyms

DHC1b, DHC2, DNCH2, DYH1B, hdhc11

Description

Dynein, cytoplasmic 2, heavy chain 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

q22.3

Chromosome location (bp)

102980160 - 103350591

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187240 (version 75.37)

Entrez gene

79659

UniProt

Q8NCM8 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NCM8

Antibodypedia

DYNC2H1 antibodies
 

PROTEIN VIEW

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DYNC2H1-001
 
DYNC2H1-002
 
DYNC2H1-004
 
DYNC2H1-005
 
DYNC2H1-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DYNC2H1-001 ENSP00000364887
ENST00000375735
Q8NCM8
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Show » Show » 4307 492.6 No 0
DYNC2H1-002 ENSP00000334021
ENST00000334267
Q8NCM8
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Show » Show » 920 105.4 No 0
DYNC2H1-004 ENSP00000433451
ENST00000528670
H0YDE0
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Show » Show » 378 43.5 No 0
DYNC2H1-005 ENSP00000381167
ENST00000398093
Q8NCM8
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Show » Show » 4314 493.4 No 0
DYNC2H1-007 ENSP00000436736
ENST00000533197
H0YEX1
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Show » Show » 224 25 No 0