Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79800
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium responsive transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CARF
Synonyms (NCBI Gene) Gene synonyms aliases
ALS2CR8, NYD-SP24
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025457 hsa-miR-34a-5p Proteomics 21566225
MIRT043277 hsa-miR-331-3p CLASH 23622248
MIRT503816 hsa-miR-521 HITS-CLIP 21572407
MIRT503815 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT503814 hsa-miR-190a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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 IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 11832226
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607586 14435 ENSG00000138380
Protein
UniProt ID Q8N187
Protein name Calcium-responsive transcription factor (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein) (Calcium-response factor) (CaRF) (Testis development protein NYD-SP24)
Protein function Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3' sequence. {ECO:0000269|PubMed:11832226, ECO:0000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15299 ALS2CR8 253 483 Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 Family
Sequence
MEQSNDSLRVNHNDGEESKTSAQVFEHLICMDSRDSSFGQNDSPTVLPITTREANNSLIS
QNIPGPLTQTQTLSAEQFHLVDQNGQAIQYELQSLGESNAQMMIVASPTENGQVLRVIPP
TQTGMAQVIIPQGQLVDVNSPRDVPEEKPSNRNLPTVRVDTLADNTSNYILHPQTSFPLP
KKSVTGMLEEPLLGPLQPLSSNTPIWACRLRSCEKIGDSYRGYCVSETELESVLTFHKQQ
TQSVWGTRQSPSPAKPATRLMWKSQYVPYDGIPFVNAGSRAVVMECQYGPRRKGFQLKKV
SEQESRSCQLYKATCPARIYIKKVQKFPEYRVPTDPKIDKKIIRMEQEKAFNMLKKNLVD
AGGVLRWYVQLPTQQAHQYHELETPCLTLSPSPFPVSSLEEEETAVRDENCALPSRLHPQ
VAHKIQELVSQGIEQVYAVRKQLRKFVERELFKPDEVPERHNLSFFPTVNDIKNHIHEVQ
KSL
RNGDTVYNSEIIPATLQWTTDSGNILKETMTVTFAEGNSPGESITTKVETNQTRGSL
SPEPTHLLSSLSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGS
AVMNNNSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEVGDVEDTGNL
EGTVHRILLGDVQTIPIQIIDNHSALIEENPESTISVSQVKQEPKEPALSMEAKKTVDYK
KLSAT
Sequence length 725
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)
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
Coronary artery disease Coronary artery disease N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Small Vessel Diseases Associate 31430377
Chemical and Drug Induced Liver Injury Associate 39596320