Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83989
Gene name Gene Name - the full gene name approved by the HGNC.
ARB2 cotranscriptional regulator A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARB2A
Synonyms (NCBI Gene) Gene synonyms aliases
C5orf21, FAM172A, Toupee
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q15
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT039397 hsa-miR-421 CLASH 23622248
MIRT527521 hsa-miR-6835-3p PAR-CLIP 22012620
MIRT527520 hsa-miR-1910-3p PAR-CLIP 22012620
MIRT527519 hsa-miR-6511a-5p PAR-CLIP 22012620
MIRT401439 hsa-miR-330-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
621249 25365 ENSG00000113391
Protein
UniProt ID Q8WUF8
Protein name Cotranscriptional regulator ARB2A (ARB2 cotranscriptional regulator A) (Cotranscriptional regulator FAM172A) (Protein FAM172A)
Protein function Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. {ECO:0000250|UniPro
Family and domains
Sequence
MSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTL
EGFEYAFNEKGQLRHIKTGEPFVFNYREDLHRWNQKRYEALGEIITKYVYELLEKDCNLK
KVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGTQ
IPFIKRAVAEGYGVIVLNPNENYIEVEKPKIHVQSSSDSSDEPAEKRERKDKVSKETKKR
RDFYEKYRNPQREKEMMQLYIRENGSPEEHAIYVWDHFIAQAAAENVFFVAHSYGGLAFV
ELMIQREADVKNKVTAVALTDSVHNVWHQEAGKTIREWMRENCCNWVSSSEPLDTSVESM
LPDCPRVSAGTDRHELTSWKSFPSIFKFFTEASEAKTSSLKPAVTRRSHRIKHEEL
Sequence length 416
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS