• Gene id: 79800

Gene Summary

• Gene Symbol: CARF   Gene   UCSC   Ensembl
• Aliases: ALS2CR8, NYD-SP24
• Gene name: calcium responsive transcription factor
• Alternate names: calcium-responsive transcription factor, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8, amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein, calcium-response factor, testis development protein NYD-SP24,
• Gene location: 2q33.2 (202912217: 202988262)     Exons: 24     NC_000002.12
• OMIM: 607586

Protein Summary

• Protein general information: Q8N187  
  • Name: Calcium responsive transcription factor (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein) (Calcium response factor) (CaRF) (Testis development protein NYD SP24)
  • Length: 725  
  • Mass: 80698
• Sequence:

  MEQSNDSLRVNHNDGEESKTSAQVFEHLICMDSRDSSFGQNDSPTVLPITTREANNSLISQNIPGPLTQTQTLSA
  EQFHLVDQNGQAIQYELQSLGESNAQMMIVASPTENGQVLRVIPPTQTGMAQVIIPQGQLVDVNSPRDVPEEKPS
  NRNLPTVRVDTLADNTSNYILHPQTSFPLPKKSVTGMLEEPLLGPLQPLSSNTPIWACRLRSCEKIGDSYRGYCV
  SETELESVLTFHKQQTQSVWGTRQSPSPAKPATRLMWKSQYVPYDGIPFVNAGSRAVVMECQYGPRRKGFQLKKV
  SEQESRSCQLYKATCPARIYIKKVQKFPEYRVPTDPKIDKKIIRMEQEKAFNMLKKNLVDAGGVLRWYVQLPTQQ
  AHQYHELETPCLTLSPSPFPVSSLEEEETAVRDENCALPSRLHPQVAHKIQELVSQGIEQVYAVRKQLRKFVERE
  LFKPDEVPERHNLSFFPTVNDIKNHIHEVQKSLRNGDTVYNSEIIPATLQWTTDSGNILKETMTVTFAEGNSPGE
  SITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGS
  AVMNNNSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEVGDVEDTGNLEGTVHRILLGDVQTI
  PIQIIDNHSALIEENPESTISVSQVKQEPKEPALSMEAKKTVDYKKLSAT

• Structural information:
  • Interpro: IPR029309  
  • STRING: ENSP00000384006
• Other Databases: GeneCards:  CARF  Malacards:  CARF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0061400	positive regulation of transcription from RNA polymerase II promoter in response to calcium ion	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001652	granular component	IEA	cellular component
GO:0051090	regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0061400	positive regulation of transcription from RNA polymerase II promoter in response to calcium ion	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0035865	cellular response to potassium ion	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0061400	positive regulation of transcription from RNA polymerase II promoter in response to calcium ion	IDA	biological process
GO:0061400	positive regulation of transcription from RNA polymerase II promoter in response to calcium ion	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0035865	cellular response to potassium ion	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R