CC2D1A (coiled-coil and C2 domain containing 1A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54862
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil and C2 domain containing 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CC2D1A
Synonyms (NCBI Gene) Gene synonyms aliases
Aki-1, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, TAPE
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5`-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs34146052 G>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs201177183 G>A,C,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs201921029 G>A Pathogenic, benign, uncertain-significance Missense variant, coding sequence variant
rs202057391 C>T Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign Missense variant, coding sequence variant
rs541952457 TGGGCAG>- Conflicting-interpretations-of-pathogenicity Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(106)
miRTarBase ID miRNA Experiments Reference
MIRT440995 hsa-miR-485-5p HITS-CLIP 24374217
MIRT440994 hsa-miR-377-5p HITS-CLIP 24374217
MIRT150380 hsa-miR-19a-3p HITS-CLIP 22473208
MIRT150381 hsa-miR-19b-3p HITS-CLIP 22473208
MIRT440995 hsa-miR-485-5p HITS-CLIP 24374217
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12917378
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610055 30237 ENSG00000132024
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6P1N0
Protein name Coiled-coil and C2 domain-containing protein 1A (Akt kinase-interacting protein 1) (Five prime repressor element under dual repression-binding protein 1) (FRE under dual repression-binding protein 1) (Freud-1) (Putative NF-kappa-B-activating protein 023N)
Protein function Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 655 → 772 C2 domain Domain
Sequence 
MHKRKGPPGPPGRGAAAARQLGLLVDLSPDGLMIPEDGANDEELEAEFLALVGGQPPALE
KLKGKGPLPMEAIEKMASLCMRDPDEDEEEGTDEDDLEADDDLLAELNEVLGEEQKASET
PPPVAQPKPEAPHPGLETTLQERLALYQTAIESARQAGDSAKMRRYDRGLKTLENLLASI
RKGNAIDEADIPPPVAIGKGPASTPTYSPAPTQPAPRIASAPEPRVTLEGPSATAPASSP
GLAKPQMPPGPCSPGPLAQLQSRQRDYKLAALHAKQQGDTTAAARHFRVAKSFDAVLEAL
SRGEPVDLSCLPPPPDQLPPDPPSPPSQPPTPATAPSTTEVPPPPRTLLEALEQRMERYQ
VAAAQAKSKGDQRKARMHERIVKQYQDAIRAHKAGRAVDVAELPVPPGFPPIQGLEATKP
TQQSLVGVLETAMKLANQDEGPEDEEDEVPKKQNSPVAPTAQPKAPPSRTPQSGSAPTAK
APPKATSTRAQQQLAFLEGRKKQLLQAALRAKQKNDVEGAKMHLRQAKGLEPMLEASRNG
LPVDITKVPPAPVNKDDFALVQRPGPGLSQEAARRYGELTKLIRQQHEMCLNHSNQFTQL
GNITETTKFEKLAEDCKRSMDILKQAFVRGLPTPTARFEQRTFSVIKIFPDLSSNDMLLF
IVKGINLPTPPGLSPGDLDVFVRFDFPYPNVEEAQKDKTSVIKNTDSPEFKEQFKLCINR
SHRGFRRAIQTKGIKFEVVHKGGLFKTDRVLGTAQLKLDALEIACEVREILEVLDGRRPT
GGRLEVMVRIREPLTAQQLETTTERWLVIDPVPAAVPTQVAGPKGKAPPVPAPARESGNR
SARPLHSLSVLAFDQERLERKILALRQARRPVPPEVAQQYQDIMQRSQWQRAQLEQGGVG
IRREYAAQLERQLQFYTEAARRLGNDGSRDAAKEALYRRNLVESELQRLRR
Sequence length 951
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation Intellectual disability, autosomal recessive 3, intellectual disability N/A N/A ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 34205586
Cerebral Palsy Associate 34580524
Intellectual Disability Associate 16033914, 20529849, 22419660, 27914010, 30500859, 34580524
Mental Disorders Associate 22328058
Mental Retardation Autosomal Recessive 4 Associate 16033914, 34580524
Mental Retardation X Linked Nonsyndromic Associate 18452889, 34205586
Psychological Trauma Associate 34580524