DYNC2H1

GENE INFORMATION

? »

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)

103109431 - 103479863

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187240 (version 78.38)

Entrez gene

79659

UniProt

Q8NCM8 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NCM8

Antibodypedia

DYNC2H1 antibodies
 

PROTEIN VIEW

? »
 
 
 
DYNC2H1-001
 
DYNC2H1-002
 
DYNC2H1-005
 
DYNC2H1-007
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

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