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Aliases for CARF Gene

Aliases for CARF Gene

  • Calcium Responsive Transcription Factor 2 3 5
  • Calcium-Response Factor 2 3 4
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 8 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 8 2 3
  • Testis Development Protein NYD-SP24 3 4
  • ALS2CR8 3 4
  • NYD-SP24 3
  • CaRF 4

External Ids for CARF Gene

Previous HGNC Symbols for CARF Gene

  • ALS2CR8

Previous GeneCards Identifiers for CARF Gene

  • GC04P185045
  • GC04P184950
  • GC04P185061
  • GC04P184740
  • GC04P184602
  • GC02P203777

Summaries for CARF Gene

GeneCards Summary for CARF Gene

CARF (Calcium Responsive Transcription Factor) is a Protein Coding gene. Diseases associated with CARF include amyotrophic lateral sclerosis 2, juvenile. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding.

UniProtKB/Swiss-Prot for CARF Gene

  • 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.

Gene Wiki entry for CARF Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARF Gene

Genomics for CARF Gene

Regulatory Elements for CARF Gene

Enhancers for CARF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CARF on UCSC Golden Path with GeneCards custom track

Promoters for CARF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CARF on UCSC Golden Path with GeneCards custom track

Genomic Location for CARF Gene

Chromosome:
2
Start:
202,912,214 bp from pter
End:
202,987,857 bp from pter
Size:
75,644 bases
Orientation:
Plus strand

Genomic View for CARF Gene

Genes around CARF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARF Gene

Proteins for CARF Gene

  • Protein details for CARF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N187-CARTF_HUMAN
    Recommended name:
    Calcium-responsive transcription factor
    Protein Accession:
    Q8N187
    Secondary Accessions:
    • B4E1W7
    • G3V1K7
    • Q8ND29
    • Q8WXC0
    • Q96J78
    • Q96Q38
    • Q96Q39
    • Q9H712

    Protein attributes for CARF Gene

    Size:
    725 amino acids
    Molecular mass:
    80698 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15088.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB69018.1; Type=Frameshift; Positions=715; Evidence={ECO:0000305};

    Alternative splice isoforms for CARF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARF Gene

Proteomics data for CARF Gene at MOPED

Post-translational modifications for CARF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CARF Gene

Domains & Families for CARF Gene

Protein Domains for CARF Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8N187

UniProtKB/Swiss-Prot:

CARTF_HUMAN :
  • The N-terminus is necessary for DNA-binding. The C-terminus is necessary for transcriptional activation (PubMed:11832226).
Domain:
  • The N-terminus is necessary for DNA-binding. The C-terminus is necessary for transcriptional activation (PubMed:11832226).
genes like me logo Genes that share domains with CARF: view

No data available for Gene Families for CARF Gene

Function for CARF Gene

Molecular function for CARF Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with CARF: view

Animal Models for CARF Gene

MGI Knock Outs for CARF:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CARF Gene

Localization for CARF Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARF Gene

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CARF Gene

Pathways & Interactions for CARF Gene

SuperPathways for CARF Gene

No Data Available

Interacting Proteins for CARF Gene

SIGNOR curated interactions for CARF Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CARF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0061400 positive regulation of transcription from RNA polymerase II promoter in response to calcium ion IDA 11832226
genes like me logo Genes that share ontologies with CARF: view

No data available for Pathways by source for CARF Gene

Drugs & Compounds for CARF Gene

(1) Drugs for CARF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CARF: view

Transcripts for CARF Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CARF Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^
SP1: - - - - - - -
SP2: - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - - - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - - - - - -
SP12: - - - - -
SP13: - -

ExUns: 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for CARF Gene

GeneLoc Exon Structure for
CARF
ECgene alternative splicing isoforms for
CARF

Expression for CARF Gene

mRNA expression in normal human tissues for CARF Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CARF Gene



genes like me logo Genes that share expression patterns with CARF: view

Protein tissue co-expression partners for CARF Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CARF Gene

Orthologs for CARF Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CARF 35
  • 89.43 (n)
  • 84.81 (a)
CARF 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALS2CR8 35
  • 90.98 (n)
  • 87.57 (a)
CARF 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Carf 35
  • 82.73 (n)
  • 75.04 (a)
Carf 16
Carf 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALS2CR8 35
  • 99.45 (n)
  • 98.76 (a)
ALS2CR8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Carf 35
  • 81.72 (n)
  • 79.07 (a)
oppossum
(Monodelphis domestica)
Mammalia CARF 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CARF 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALS2CR8 35
  • 72.57 (n)
  • 68.21 (a)
CARF 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia carf 35
  • 62.66 (n)
  • 55.78 (a)
zebrafish
(Danio rerio)
Actinopterygii carf 35
  • 57.52 (n)
  • 53.97 (a)
carf 36
  • 45 (a)
OneToOne
Species with no ortholog for CARF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CARF Gene

ENSEMBL:
Gene Tree for CARF (if available)
TreeFam:
Gene Tree for CARF (if available)

Paralogs for CARF Gene

No data available for Paralogs for CARF Gene

Variants for CARF Gene

Sequence variations from dbSNP and Humsavar for CARF Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1864464 -- 202,987,864(+) CCAAT(A/C)TGATA downstream-variant-500B
rs1864465 -- 202,987,905(+) CATCA(C/G)CATAA downstream-variant-500B
rs2052944 -- 202,969,678(-) TTCCC(C/G)TAGAT intron-variant
rs3731695 -- 202,955,552(+) AGTTA(C/T)TGTTA intron-variant, upstream-variant-2KB
rs5006828 -- 202,986,887(+) ATATA(C/T)ATATA downstream-variant-500B, utr-variant-3-prime

Variation tolerance for CARF Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CARF Gene

HapMap Linkage Disequilibrium report
CARF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CARF Gene

Disorders for CARF Gene

MalaCards: The human disease database

(1) MalaCards diseases for CARF Gene - From: GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
- elite association - COSMIC cancer census association via MalaCards
Search CARF in MalaCards View complete list of genes associated with diseases

Relevant External Links for CARF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARF
genes like me logo Genes that share disorders with CARF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CARF Gene

Publications for CARF Gene

  1. A calcium-responsive transcription factor, CaRF, that regulates neuronal activity-dependent expression of BDNF. (PMID: 11832226) Tao X. … Greenberg M.E. (Neuron 2002) 2 3 4 23 67
  2. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 2 3
  3. DBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation. (PMID: 22446626) Close P. … Svejstrup J.Q. (Nature 2012) 3
  4. Protein array based interactome analysis of amyloid-I^ indicates an inhibition of protein translation. (PMID: 21244100) Virok D.P. … FA1lAPp L. (J. Proteome Res. 2011) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for CARF Gene

Sources for CARF Gene

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