CCDC88B (coiled-coil and HOOK domain protein 88B)

Gene

• Entrez ID: 283234
• Gene name: Coiled-coil and HOOK domain protein 88B
• Gene symbol: CCDC88B
• Synonyms (NCBI Gene): BRLZ, CCDC88, HKRP3, gipie
• 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

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
MIRT870130	hsa-miR-296-5p	CLIP-seq
MIRT870131	hsa-miR-4707-5p	CLIP-seq
MIRT870132	hsa-miR-4753-3p	CLIP-seq
MIRT870133	hsa-miR-4763-3p	CLIP-seq
MIRT2195113	hsa-miR-1224-3p	CLIP-seq
MIRT2195114	hsa-miR-1260	CLIP-seq
MIRT2195115	hsa-miR-1260b	CLIP-seq
MIRT2195116	hsa-miR-1280	CLIP-seq
MIRT2195117	hsa-miR-188-3p	CLIP-seq
MIRT2195118	hsa-miR-3156-3p	CLIP-seq
MIRT2195119	hsa-miR-3199	CLIP-seq
MIRT2195120	hsa-miR-512-5p	CLIP-seq
MIRT2195121	hsa-miR-619	CLIP-seq

Gene ontology (GO)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IBA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	ISS
GO:0042832	Process	Defense response to protozoan	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0051959	Function	Dynein light intermediate chain binding	IBA

Other IDs

• MIM: 611205
• HGNC: 26757
• e!Ensembl: ENSG00000168071

Protein

• UniProt ID: 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
  PGAGVVLALSGPDPGELAPAELEMLSRSLMGTLSKLARERDLGAQRLAELLLEREPLCLR
  PEAPSRAPAEGPSHHLALQLANAKAQLRRLRQELEEKAELLLDSQAEVQGLEAEIRRLRQ
  EAQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLQAAEAYKSQLEEERVLS
  GVLEASKALLEEQLEAARERCARLHETQRENLLLRTRLGEAHAELDSLRHQVDQLAEENV
  ELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQG
  QPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSV
  LEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQS
  PASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQL
  EEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESL
  ASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAH
  REAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSE
  AAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAAL
  ERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPA
  GLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLL
  QSQRAQEHSSRLQAEKSVLEIQGQELHRKLEVLEEEVRAARQSQEETRGQQQALLRDHKA
  LAQLQRRQEAELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAE
  RERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELER
  AQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELL
  ERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKV
  KRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSS
  LCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVG
  WENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ

• Sequence length: 1476

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	38092781	Associate	★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	39324702	Associate	★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	34714828	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	27992413		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29030607		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29030607		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	39324702	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	40727246	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune System Diseases	BEFREE	25403443		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29030607		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	25642632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	CTD_human_DG	25642632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	GWASCAT_DG	25642632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	40727246	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	26394269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	29030607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations