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Aliases for ALS2CR11 Gene

Aliases for ALS2CR11 Gene

  • Amyotrophic Lateral Sclerosis 2 Chromosome Region Candidate 11 2 3 5
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 11 2

External Ids for ALS2CR11 Gene

Previous GeneCards Identifiers for ALS2CR11 Gene

  • GC00U990889
  • GC02U900708
  • GC02M202178
  • GC02M202060
  • GC02M202352
  • GC02M194200

Summaries for ALS2CR11 Gene

Entrez Gene Summary for ALS2CR11 Gene

  • An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]

GeneCards Summary for ALS2CR11 Gene

ALS2CR11 (Amyotrophic Lateral Sclerosis 2 Chromosome Region Candidate 11) is a Protein Coding gene. Diseases associated with ALS2CR11 include Lateral Sclerosis and Amyotrophic Lateral Sclerosis 2, Juvenile.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALS2CR11 Gene

Genomics for ALS2CR11 Gene

Regulatory Elements for ALS2CR11 Gene

Enhancers for ALS2CR11 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
GH02F201572 0.8 FANTOM5 Ensembl 18 +46.1 46083 1.0 ALS2CR11 PPIL3 TMEM237 ALS2CR12 RNU6-651P CFLAR GC02P201580 MTND5P31
GH02F201651 0.8 Ensembl ENCODE 11.1 -35.0 -34951 4.6 TBP RFX1 PKNOX1 TAF1 JUN SIN3A CEBPG RAD21 JUND FOS ENO1P4 ALS2CR11 STRADB ALS2CR12 PPIL3 RNU6-651P MPP4
GH02F201579 0.8 Ensembl ENCODE 11.1 +38.5 38521 1.5 SOX13 GATAD2A ELF3 TEAD1 HLF FOXA3 CEBPB HMG20A CEBPG RARA PPIL3 ALS2CR11 ENO1P4 TMEM237 RNU6-651P GC02P201580 MTND5P31
GH02F201657 0.6 FANTOM5 11.1 -38.5 -38527 0.5 ENO1P4 ALS2CR11 STRADB RNU6-651P MPP4
GH02F201464 1 Ensembl ENCODE 10.9 +153.1 153060 3.2 SCRT1 HLF ZIC2 JUND POLR2A SMARCA4 SCRT2 GLIS1 FOS CASP8 STRADB ENO1P4 ALS2CR11 TMEM237 ALS2CR12 TRAK2 GC02P201507
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALS2CR11 on UCSC Golden Path with GeneCards custom track

Promoters for ALS2CR11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001831422 182 400 CTCF NRF1 SMC3 RAD21

Genomic Location for ALS2CR11 Gene

Chromosome:
2
Start:
201,487,421 bp from pter
End:
201,619,183 bp from pter
Size:
131,763 bases
Orientation:
Minus strand

Genomic View for ALS2CR11 Gene

Genes around ALS2CR11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALS2CR11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALS2CR11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALS2CR11 Gene

Proteins for ALS2CR11 Gene

  • Protein details for ALS2CR11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53TS8-AL2SA_HUMAN
    Recommended name:
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein
    Protein Accession:
    Q53TS8
    Secondary Accessions:
    • C9IZH7
    • E9PGG4
    • Q8NCN6
    • Q96LN4

    Protein attributes for ALS2CR11 Gene

    Size:
    623 amino acids
    Molecular mass:
    71159 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALS2CR11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALS2CR11 Gene

Post-translational modifications for ALS2CR11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ALS2CR11 Gene

Domains & Families for ALS2CR11 Gene

Protein Domains for ALS2CR11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALS2CR11 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ALS2CR11: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ALS2CR11 Gene

Function for ALS2CR11 Gene

Gene Ontology (GO) - Molecular Function for ALS2CR11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ALS2CR11: view
genes like me logo Genes that share phenotypes with ALS2CR11: view

Animal Model Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALS2CR11 Gene

Localization for ALS2CR11 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALS2CR11 Gene COMPARTMENTS Subcellular localization image for ALS2CR11 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ALS2CR11 Gene

Pathways & Interactions for ALS2CR11 Gene

SuperPathways for ALS2CR11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALS2CR11 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ALS2CR11 Gene

Transcripts for ALS2CR11 Gene

Unigene Clusters for ALS2CR11 Gene

Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALS2CR11 Gene

No ASD Table

Relevant External Links for ALS2CR11 Gene

GeneLoc Exon Structure for
ALS2CR11
ECgene alternative splicing isoforms for
ALS2CR11

Expression for ALS2CR11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALS2CR11 Gene

mRNA differential expression in normal tissues according to GTEx for ALS2CR11 Gene

This gene is overexpressed in Testis (x30.6).

Protein differential expression in normal tissues from HIPED for ALS2CR11 Gene

This gene is overexpressed in NK cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALS2CR11 Gene



Protein tissue co-expression partners for ALS2CR11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALS2CR11 Gene:

ALS2CR11

SOURCE GeneReport for Unigene cluster for ALS2CR11 Gene:

Hs.335788
genes like me logo Genes that share expression patterns with ALS2CR11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ALS2CR11 Gene

Orthologs for ALS2CR11 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ALS2CR11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALS2CR11 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia LOC609039 34
  • 81.58 (n)
-- 35
  • 60 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ALS2CR11 34 35
  • 80.55 (n)
mouse
(Mus musculus)
Mammalia LOC102636554 34
  • 73.48 (n)
Als2cr11 35
  • 45 (a)
OneToOne
Als2cr11b 16
platypus
(Ornithorhynchus anatinus)
Mammalia ALS2CR11 35
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALS2CR11 35
  • 46 (a)
OneToOne
Species where no ortholog for ALS2CR11 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ALS2CR11 Gene

ENSEMBL:
Gene Tree for ALS2CR11 (if available)
TreeFam:
Gene Tree for ALS2CR11 (if available)

Paralogs for ALS2CR11 Gene

No data available for Paralogs for ALS2CR11 Gene

Variants for ALS2CR11 Gene

Sequence variations from dbSNP and Humsavar for ALS2CR11 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_035787 A colorectal cancer sample
rs193920769 Uncertain significance 201,487,820(-) GCTTT(C/T)AGGAA reference, missense, utr-variant-3-prime
rs10170539 -- 201,531,353(+) AGTAA(C/G)AGCTC intron-variant
rs10172753 -- 201,574,579(+) ATTCA(A/T)ACATG intron-variant
rs10177488 -- 201,616,759(+) gagga(A/T)gtcaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALS2CR11 Gene

Variant ID Type Subtype PubMed ID
esv24012 CNV loss 19812545
esv2658936 CNV deletion 23128226
esv2763059 CNV loss 21179565
esv3575325 CNV gain 25503493
esv3593980 CNV loss 21293372
esv3593981 CNV loss 21293372
nsv3111 CNV insertion 18451855
nsv473607 CNV novel sequence insertion 20440878
nsv477193 CNV novel sequence insertion 20440878
nsv507063 OTHER sequence alteration 20534489

Variation tolerance for ALS2CR11 Gene

Gene Damage Index Score: 5.13; 69.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALS2CR11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALS2CR11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALS2CR11 Gene

Disorders for ALS2CR11 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ALS2CR11 Gene - From: GeneCards

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

Relevant External Links for ALS2CR11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALS2CR11
genes like me logo Genes that share disorders with ALS2CR11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALS2CR11 Gene

Publications for ALS2CR11 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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 64
  5. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. (PMID: 25168388) Lin W.Y. … Cox A. (Hum. Mol. Genet. 2015) 3 64

Products for ALS2CR11 Gene

Sources for ALS2CR11 Gene

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