Homo sapiens Gene: HEATR2
Summary
InnateDB Gene IDBG-6173.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEATR2
Gene Name HEAT repeat containing 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000164818
Encoded Proteins
HEAT repeat containing 2
HEAT repeat containing 2
HEAT repeat containing 2
HEAT repeat containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:726701-786475
Strand Forward strand
Band p22.3
Transcripts
ENST00000297440 ENSP00000297440
ENST00000403952 ENSP00000384884
ENST00000437419 ENSP00000410788
ENST00000438961
ENST00000440747 ENSP00000403165
ENST00000491496
ENST00000486546
ENST00000461576
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.596432
RefSeq NM_017802
HUGO
OMIM
CCDS CCDS34580
HPRD 07903
IMGT
EMBL
GenPept
RNA Seq Atlas