Gene Gene information from NCBI Gene database.
Entrez ID 55297
Gene name Coiled-coil domain containing 91
Gene symbol CCDC91
Synonyms (NCBI Gene)
HSD8p56
Chromosome 12
Chromosome location 12p11.22
miRNA miRNA information provided by mirtarbase database.
140
miRTarBase ID miRNA Experiments Reference
MIRT625140 hsa-miR-8485 HITS-CLIP 23824327
MIRT625139 hsa-miR-329-3p HITS-CLIP 23824327
MIRT625138 hsa-miR-362-3p HITS-CLIP 23824327
MIRT629246 hsa-miR-5689 HITS-CLIP 23824327
MIRT625140 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005794 Component Golgi apparatus IDA
GO:0005794 Component Golgi apparatus IEA
GO:0005802 Component Trans-Golgi network IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617366 24855 ENSG00000123106
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6B0
Protein name Coiled-coil domain-containing protein 91 (GGA-binding partner) (p56 accessory protein)
Protein function Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes.
PDB 1OM9
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12808037}.
Sequence
MDDDDFGGFEAAETFDGGSGETQTTSPAIPWAAFPAVSGVHLSPSSPEIVLDRDHSSSIG
CLSSDAIISSPENTHAANSIVSQTIPKAQIQQSTHTHLDISLFPLGLTDEKSNGTIALVD
DSEDPGANVSNIQLQQKISSLEIKLKVSEEEKQRIKQDVESLMEKHNVLEKGFLKEKEQE
AISFQDRYKELQEKHKQELEDMRKAGHEALSIIVDEYKALLQSSVKQQVEAIEKQYISAI
EKQAHKCEELLNAQHQRLLEMLDTEKELLKEKIKEALIQQSQEQKEILEKCLEEERQRNK
EALVSAAKLEKEAVKDAVLKVVEEERKNLEKAHAEERELWKTEHAKDQEKVSQEIQKAIQ
EQRKISQETVKAAIIEEQKRSEKAVEEAVKRTRDELIEYIKEQKRLDQVIRQRSLSSLEL
FLSCAQKQLSALIATEPVDIE
Sequence length 441
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 28984787
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27459855 Associate
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 11765912
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30804561
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 30890645
★☆☆☆☆
Found in Text Mining only
Hyperostosis Diffuse Idiopathic Skeletal Diffuse idiopathic skeletal hyperostosis Pubtator 37156767 Associate
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition BEFREE 30890645
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 26635082 Associate
★☆☆☆☆
Found in Text Mining only
Myopia Myopia BEFREE 20484596
★☆☆☆☆
Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE Ossification Of The Posterior Longitudinal Ligament Of Spine GWASCAT_DG 25064007
★☆☆☆☆
Found in Text Mining only