CCDC88B (coiled-coil domain containing 88B)

2016-10-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
BRLZ,CCDC88,HKRP3,gipie
FUSION GENES

Other Information

Locus ID:

NCBI: 283234
MIM: 611205
HGNC: 26757
Ensembl: ENSG00000168071

Variants:

dbSNP: 283234
ClinVar: 283234
TCGA: ENSG00000168071
COSMIC: CCDC88B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168071ENST00000301897A6NC98
ENSG00000168071ENST00000356786A6NC98
ENSG00000168071ENST00000359902H7BY33

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
290306072017CCDC88B is required for pathogenesis of inflammatory bowel disease.15
290306072017CCDC88B is required for pathogenesis of inflammatory bowel disease.15
257627802015HkRP3 is a microtubule-binding protein regulating lytic granule clustering and NK cell killing.22
257627802015HkRP3 is a microtubule-binding protein regulating lytic granule clustering and NK cell killing.22
228373802012A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.21
228373802012A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.21
212890992011Protective role of Gipie, a Girdin family protein, in endoplasmic reticulum stress responses in endothelial cells.11
212890992011Protective role of Gipie, a Girdin family protein, in endoplasmic reticulum stress responses in endothelial cells.11

Citation

Dessen P

CCDC88B (coiled-coil domain containing 88B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56440/ccdc88b-(coiled-coil-domain-containing-88b)