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Aliases for ALS2CR12 Gene

Aliases for ALS2CR12 Gene

  • Amyotrophic Lateral Sclerosis 2 Chromosome Region 12 2 3 5
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 12 2
  • Amyotrophic Lateral Sclerosis 2 Chromosome Region Candidate 12 2

External Ids for ALS2CR12 Gene

Previous GeneCards Identifiers for ALS2CR12 Gene

  • GC02M200370
  • GC02M200877
  • GC02M202117
  • GC02M202355
  • GC02M201978
  • GC02M201861
  • GC02M194001

Summaries for ALS2CR12 Gene

GeneCards Summary for ALS2CR12 Gene

ALS2CR12 (Amyotrophic Lateral Sclerosis 2 Chromosome Region 12) is a Protein Coding gene. Diseases associated with ALS2CR12 include Amyotrophic Lateral Sclerosis 2, Juvenile and Lateral Sclerosis.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALS2CR12 Gene

Genomics for ALS2CR12 Gene

Regulatory Elements for ALS2CR12 Gene

Enhancers for ALS2CR12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G201251 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +98.9 98896 13.4 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 CASP8 ALS2CR12 STRADB ENSG00000273209 PPIL3 CASP10 CLK1 CFLAR FAM126B
GH02G201431 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -75.4 -75404 2.4 PKNOX1 ARNT SIN3A DMAP1 TCF12 GATA2 FOS PAF1 SP5 NCOA1 STRADB ALS2CR12 TMEM237 RNU6-651P ALS2 ENSG00000202008 TRAK2
GH02G201404 1.2 Ensembl ENCODE 11.3 -48.3 -48301 2.7 HDGF ARNT BRCA1 ZNF121 REST ZNF592 KAT8 ATF4 SMARCA4 STAT3 CASP8 PPIL3 TRAK2 ALS2CR12 RNU6-651P TMEM237 LOC100420110 STRADB
GH02G201450 1.1 ENCODE 9.5 -94.8 -94783 3.4 HDGF HNRNPUL1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CASP8 STRADB TMEM237 C2CD6 ENO1P4 ALS2CR12 TRAK2 GC02P201507
GH02G201269 0.8 dbSUPER 11.5 +85.8 85849 5.0 HDGF CTCF ZSCAN4 TSC22D4 CEBPG ZNF121 ZNF207 FOS MAFK NFIA CASP8 STRADB ALS2CR12 TRAK2 ENO1P4 C2CD6 TMEM237 CASP10 RNU6-651P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALS2CR12 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALS2CR12 Gene

Chromosome:
2
Start:
201,288,271 bp from pter
End:
201,357,398 bp from pter
Size:
69,128 bases
Orientation:
Minus strand

Genomic View for ALS2CR12 Gene

Genes around ALS2CR12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALS2CR12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALS2CR12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALS2CR12 Gene

Proteins for ALS2CR12 Gene

  • Protein details for ALS2CR12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q35-AL2SB_HUMAN
    Recommended name:
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein
    Protein Accession:
    Q96Q35
    Secondary Accessions:
    • G5E9S3
    • Q53TT6
    • Q8N1B6

    Protein attributes for ALS2CR12 Gene

    Size:
    445 amino acids
    Molecular mass:
    52439 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALS2CR12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALS2CR12 Gene

Post-translational modifications for ALS2CR12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ALS2CR12 Gene

Domains & Families for ALS2CR12 Gene

Protein Domains for ALS2CR12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALS2CR12 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ALS2CR12: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ALS2CR12 Gene

Function for ALS2CR12 Gene

Gene Ontology (GO) - Molecular Function for ALS2CR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with ALS2CR12: view
genes like me logo Genes that share phenotypes with ALS2CR12: view

Animal Model Products

CRISPR Products

miRNA for ALS2CR12 Gene

miRTarBase miRNAs that target ALS2CR12

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ALS2CR12 Gene

Localization for ALS2CR12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALS2CR12 Gene

Cytoplasm. Cytoplasmic granule. Cell projection, cilium, flagellum. Note=Expressed in the principal piece of the sperm tail, nearest the sperm head. {ECO:0000250 UniProtKB:Q8BVM7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALS2CR12 gene
Compartment Confidence
plasma membrane 2
cytoskeleton 2
mitochondrion 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ALS2CR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0035686 sperm fibrous sheath IEA --
GO:0036126 sperm flagellum IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ALS2CR12: view

Pathways & Interactions for ALS2CR12 Gene

SuperPathways for ALS2CR12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALS2CR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043087 regulation of GTPase activity NAS --
genes like me logo Genes that share ontologies with ALS2CR12: view

No data available for Pathways by source and SIGNOR curated interactions for ALS2CR12 Gene

Drugs & Compounds for ALS2CR12 Gene

No Compound Related Data Available

Transcripts for ALS2CR12 Gene

Unigene Clusters for ALS2CR12 Gene

Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALS2CR12 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
SP1: -
SP2: -
SP3: - -

Relevant External Links for ALS2CR12 Gene

GeneLoc Exon Structure for
ALS2CR12
ECgene alternative splicing isoforms for
ALS2CR12

Expression for ALS2CR12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALS2CR12 Gene

mRNA differential expression in normal tissues according to GTEx for ALS2CR12 Gene

This gene is overexpressed in Testis (x10.5).

Protein differential expression in normal tissues from HIPED for ALS2CR12 Gene

This gene is overexpressed in Fetal Brain (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALS2CR12 Gene



Protein tissue co-expression partners for ALS2CR12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALS2CR12 Gene:

ALS2CR12

SOURCE GeneReport for Unigene cluster for ALS2CR12 Gene:

Hs.107944

Evidence on tissue expression from TISSUES for ALS2CR12 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ALS2CR12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALS2CR12 Gene

Orthologs for ALS2CR12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALS2CR12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALS2CR12 34 35
  • 99.29 (n)
cow
(Bos Taurus)
Mammalia ALS2CR12 34 35
  • 83.25 (n)
dog
(Canis familiaris)
Mammalia ALS2CR12 34 35
  • 83.17 (n)
rat
(Rattus norvegicus)
Mammalia Als2cr12 34
  • 77.22 (n)
mouse
(Mus musculus)
Mammalia Als2cr12 34 16 35
  • 74.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALS2CR12 35
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALS2CR12 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALS2CR12 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia als2cr12 34
  • 46.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 13 (a)
OneToOne
Species where no ortholog for ALS2CR12 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for ALS2CR12 Gene

ENSEMBL:
Gene Tree for ALS2CR12 (if available)
TreeFam:
Gene Tree for ALS2CR12 (if available)

Paralogs for ALS2CR12 Gene

No data available for Paralogs for ALS2CR12 Gene

Variants for ALS2CR12 Gene

Sequence variations from dbSNP and Humsavar for ALS2CR12 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000037238 -- 201,324,842(+) CTCTG(A/G)GATAG intron-variant
rs1000096649 -- 201,302,455(+) AAAGA(A/G)ACTTA intron-variant
rs1000104899 -- 201,332,172(+) TGATG(C/T)TATGA intron-variant
rs1000200445 -- 201,312,296(+) CAAGG(A/T)GAGAG intron-variant
rs1000228137 -- 201,304,914(+) TTACA(C/T)CTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALS2CR12 Gene

Variant ID Type Subtype PubMed ID
esv1004879 CNV deletion 20482838
esv3593977 CNV loss 21293372
esv3593978 CNV loss 21293372
esv3893532 CNV loss 25118596
nsv507062 OTHER sequence alteration 20534489
nsv584160 CNV loss 21841781

Variation tolerance for ALS2CR12 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALS2CR12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALS2CR12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALS2CR12 Gene

Disorders for ALS2CR12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ALS2CR12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • amyotrophic lateral sclerosis type 2
lateral sclerosis
  • motor neuron disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ALS2CR12

Genetic Association Database (GAD)
ALS2CR12
Human Genome Epidemiology (HuGE) Navigator
ALS2CR12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALS2CR12
genes like me logo Genes that share disorders with ALS2CR12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALS2CR12 Gene

Publications for ALS2CR12 Gene

  1. Genome-wide association study identifies three new melanoma susceptibility loci. (PMID: 21983787) Barrett J.H. … Bishop D.T. (Nat. Genet. 2011) 3 46 64
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64
  5. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D. … Taylor P.R. (Int. J. Cancer 2008) 3 46 64

Products for ALS2CR12 Gene

Sources for ALS2CR12 Gene

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