HEATR2

GENE INFORMATION

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Gene name

HEATR2 (HGNC Symbol)

Synonyms

CILD18, FLJ20397, FLJ25564, FLJ31671, FLJ39381

Description

HEAT repeat containing 2 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Chromosome

7

Cytoband

p22.3

Chromosome location (bp)

726701 - 786475

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164818 (version 78.38)

Entrez gene

54919

UniProt

Q86Y56 (UniProt - Evidence at protein level)

neXtProt

NX_Q86Y56

Antibodypedia

HEATR2 antibodies
 

PROTEIN VIEW

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HEATR2-001
 
HEATR2-002
 
HEATR2-005
 
HEATR2-006
 
 
 
 
 

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)

HEATR2-001 ENSP00000297440
ENST00000297440
Q86Y56
Show all »
Show » Show » 855 93.5 Yes 0
HEATR2-002 ENSP00000403165
ENST00000440747
Show » Show » 657 72.5 No 0
HEATR2-005 ENSP00000384884
ENST00000403952
E9PGY2
Show all »
Show » Show » 280 31 No 0
HEATR2-006 ENSP00000410788
ENST00000437419
Show » Show » 196 21.8 No 0