Gene Gene information from NCBI Gene database.
Entrez ID 83698
Gene name Calneuron 1
Gene symbol CALN1
Synonyms (NCBI Gene)
CABP8
Chromosome 7
Chromosome location 7q11.22
Summary This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants.
miRNA miRNA information provided by mirtarbase database.
515
miRTarBase ID miRNA Experiments Reference
MIRT019343 hsa-miR-148b-3p Microarray 17612493
MIRT053772 hsa-miR-675-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 24810858
MIRT723394 hsa-miR-7153-3p HITS-CLIP 19536157
MIRT723393 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT723392 hsa-miR-6756-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607176 13248 ENSG00000183166
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXU9
Protein name Calcium-binding protein 8 (CaBP8) (Calneuron I) (Calneuron-1)
Protein function Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity. May play a role in the physiology of neurons and is potentially important in memory and learning.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 38 102 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Brain specific. {ECO:0000269|PubMed:11286509}.
Sequence
MRLPEQPGEGKPENEKKGDGGALGGGEEPPRSQAPDFPTWEKMPFHHVTAGLLYKGNYLN
RSLSAGSDSEQLANISVEELDEIREAFRVLDRDGNGFISKQE
LGMAMRSLGYMPSEVELA
IIMQRLDMDGDGQVDFDEFMTILGPKLVSSEGRDGFLGNTIDSIFWQFDMQRITLEELKH
ILYHAFRDHLTMKDIENIIINEEESLNETSGNCQTEFEGVHSQKQNRQTCVRKSLICAFA
MAFIISVMLIAANQILRSGME
Sequence length 261
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER 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
cervical cancer Cervical Cancer BEFREE 31271297
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31271297
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33048115 Associate
★☆☆☆☆
Found in Text Mining only
Conn Adenoma Conn Adenoma BEFREE 29109191
★☆☆☆☆
Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts Epileptic Encephalopathy BEFREE 29626470
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 24810858
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 31271297
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29626470
★☆☆☆☆
Found in Text Mining only
Opitz GBBB Syndrome, X-Linked Opitz GBBB Syndrome, X-Linked BEFREE 29626470
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 26163462, 26206863, 30738099
★★☆☆☆
Found in Text Mining + Unknown/Other Associations