Gene Gene information from NCBI Gene database.
Entrez ID 283234
Gene name Coiled-coil and HOOK domain protein 88B
Gene symbol CCDC88B
Synonyms (NCBI Gene)
BRLZCCDC88HKRP3gipie
Chromosome 11
Chromosome location 11q13.1
Summary This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involve
miRNA miRNA information provided by mirtarbase database.
18
miRTarBase ID miRNA Experiments Reference
MIRT019981 hsa-miR-375 Microarray 20215506
MIRT870126 hsa-miR-1207-5p CLIP-seq
MIRT870127 hsa-miR-1909 CLIP-seq
MIRT870128 hsa-miR-1976 CLIP-seq
MIRT870129 hsa-miR-2117 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0001819 Process Positive regulation of cytokine production ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611205 26757 ENSG00000168071
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NC98
Protein name Coiled-coil domain-containing protein 88B (Brain leucine zipper domain-containing protein) (Gipie) (Hook-related protein 3) (HkRP3)
Protein function Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19047 HOOK_N 53 181 HOOK domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelium (at protein level) (PubMed:21289099). Expressed in NK cells (at protein level) (PubMed:25762780). {ECO:0000269|PubMed:21289099, ECO:0000269|PubMed:25762780}.
Sequence
MEGGKGPRLRDFLSGSLATWALGLAGLVGEAEDSEGEEEEEEEEPPLWLEKRFLRLSDGA
LLLRVLGIIAPSSRGGPRMLRGLDGPAAWRVWNLNHLWGRLRDFYQEELQLLILSPPPDL
QTLGFDPLSEEAVEQLEGVLRLLLGASVQCEHRELFIRHIQGLSLEVQSELAAAIQEVTQ
P
GAGVVLALSGPDPGELAPAELEMLSRSLMGTLSKLARERDLGAQRLAELLLEREPLCLR
PEAPSRAPAEGPSHHLALQLANAKAQLRRLRQELEEKAELLLDSQAEVQGLEAEIRRLRQ
EAQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLQAAEAYKSQLEEERVLS
GVLEASKALLEEQLEAARERCARLHETQRENLLLRTRLGEAHAELDSLRHQVDQLAEENV
ELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQG
QPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSV
LEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQS
PASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQL
EEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESL
ASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAH
REAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSE
AAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAAL
ERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPA
GLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLL
QSQRAQEHSSRLQAEKSVLEIQGQELHRKLEVLEEEVRAARQSQEETRGQQQALLRDHKA
LAQLQRRQEAELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAE
RERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELER
AQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELL
ERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKV
KRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSS
LCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVG
WENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ
Sequence length 1476
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs561980622 RCV005927220
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 38092781
Carcinoma Adenoid Cystic Associate 39324702
Chagas Cardiomyopathy Associate 34714828
Head and Neck Neoplasms Associate 39324702
Hypothyroidism Associate 40727246
Inflammation Associate 34714828, 35942506
Liver Cirrhosis Biliary Associate 40727246
Neoplasms Inhibit 39324702
Stiff Skin Syndrome Associate 35942506