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Aliases for ALS2CL Gene

Aliases for ALS2CL Gene

  • ALS2 C-Terminal Like 2 3
  • RN49018 3

External Ids for ALS2CL Gene

Previous GeneCards Identifiers for ALS2CL Gene

  • GC00U900924

Summaries for ALS2CL Gene

GeneCards Summary for ALS2CL Gene

ALS2CL (ALS2 C-Terminal Like) is a Protein Coding gene. GO annotations related to this gene include identical protein binding and Rab GTPase binding. An important paralog of this gene is RSPH1.

UniProtKB/Swiss-Prot for ALS2CL Gene

  • Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALS2CL Gene

Genomics for ALS2CL Gene

Regulatory Elements for ALS2CL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ALS2CL Gene

Chromosome:
3
Start:
46,668,995 bp from pter
End:
46,693,704 bp from pter
Size:
24,710 bases
Orientation:
Minus strand

Genomic View for ALS2CL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALS2CL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALS2CL Gene

Proteins for ALS2CL Gene

  • Protein details for ALS2CL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q60I27-AL2CL_HUMAN
    Recommended name:
    ALS2 C-terminal-like protein
    Protein Accession:
    Q60I27
    Secondary Accessions:
    • Q32MA1
    • Q6AI56
    • Q6ZNC5
    • Q6ZNC7
    • Q6ZTL4
    • Q86YD2
    • Q8N9U1
    • Q8NAL7

    Protein attributes for ALS2CL Gene

    Size:
    953 amino acids
    Molecular mass:
    107748 Da
    Quaternary structure:
    • Homodimer. Forms a heteromeric complex with ALS2 (By similarity). Interacts with ALS2 and RAB5A.
    SequenceCaution:
    • Sequence=BAD18450.1; Type=Frameshift; Positions=878; Evidence={ECO:0000305};

    Alternative splice isoforms for ALS2CL Gene

neXtProt entry for ALS2CL Gene

Proteomics data for ALS2CL Gene at MOPED

Post-translational modifications for ALS2CL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALS2CL Gene

No data available for DME Specific Peptides for ALS2CL Gene

Domains & Families for ALS2CL Gene

Gene Families for ALS2CL Gene

Protein Domains for ALS2CL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALS2CL Gene

Graphical View of Domain Structure for InterPro Entry

Q60I27

UniProtKB/Swiss-Prot:

AL2CL_HUMAN :
  • Contains 1 VPS9 domain.
  • Contains 8 MORN repeats.
Domain:
  • Contains 1 VPS9 domain.
Similarity:
  • Contains 8 MORN repeats.
genes like me logo Genes that share domains with ALS2CL: view

Function for ALS2CL Gene

Molecular function for ALS2CL Gene

UniProtKB/Swiss-Prot Function:
Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics.

Gene Ontology (GO) - Molecular Function for ALS2CL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0042802 identical protein binding IPI 17239822
genes like me logo Genes that share ontologies with ALS2CL: view

Phenotypes for ALS2CL Gene

genes like me logo Genes that share phenotypes with ALS2CL: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ALS2CL Gene

Localization for ALS2CL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALS2CL Gene

Cytoplasm. Note=Distributed onto the vesicular compartments in the cytoplasm with strong punctated staining. Colocalizes with RAB5A onto the vesicular/membranous compartments in the cytoplasm, particularly to the leading edges of the cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALS2CL Gene COMPARTMENTS Subcellular localization image for ALS2CL gene
Compartment Confidence
endosome 2

Gene Ontology (GO) - Cellular Components for ALS2CL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ALS2CL: view

Pathways & Interactions for ALS2CL Gene

SuperPathways for ALS2CL Gene

No Data Available

Interacting Proteins for ALS2CL Gene

Gene Ontology (GO) - Biological Process for ALS2CL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007032 endosome organization IGI 17239822
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ALS2CL: view

No data available for Pathways by source and SIGNOR curated interactions for ALS2CL Gene

Drugs & Compounds for ALS2CL Gene

(3) Drugs for ALS2CL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ALS2CL: view

Transcripts for ALS2CL Gene

Unigene Clusters for ALS2CL Gene

ALS2 C-terminal like:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALS2CL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALS2CL Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: -
SP7:
SP8: - - -
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b · 28c · 28d · 28e · 28f
SP1: -
SP2: - -
SP3: - -
SP4: -
SP5: -
SP6: - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ALS2CL Gene

GeneLoc Exon Structure for
ALS2CL
ECgene alternative splicing isoforms for
ALS2CL

Expression for ALS2CL Gene

mRNA expression in normal human tissues for ALS2CL Gene

mRNA differential expression in normal tissues according to GTEx for ALS2CL Gene

This gene is overexpressed in Esophagus - Mucosa (x6.1), Kidney - Cortex (x4.9), and Skin - Not Sun Exposed (Suprapubic) (x4.0).

Protein differential expression in normal tissues from HIPED for ALS2CL Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALS2CL Gene



SOURCE GeneReport for Unigene cluster for ALS2CL Gene Hs.517937

mRNA Expression by UniProt/SwissProt for ALS2CL Gene

Q60I27-AL2CL_HUMAN
Tissue specificity: Expressed in heart and kidney.
genes like me logo Genes that share expression patterns with ALS2CL: view

Protein tissue co-expression partners for ALS2CL Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ALS2CL Gene

Orthologs for ALS2CL Gene

This gene was present in the common ancestor of animals.

Orthologs for ALS2CL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALS2CL 35
  • 87.48 (n)
  • 87.09 (a)
ALS2CL 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALS2CL 35
  • 87.5 (n)
  • 86.47 (a)
ALS2CL 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Als2cl 35
  • 82.63 (n)
  • 81.62 (a)
Als2cl 16
Als2cl 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Als2cl 35
  • 82.56 (n)
  • 82.56 (a)
oppossum
(Monodelphis domestica)
Mammalia ALS2CL 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 13 (a)
ManyToMany
-- 36
  • 12 (a)
ManyToMany
-- 36
  • 6 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia ALS2CL 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALS2CL 35
  • 61.74 (n)
  • 55.95 (a)
ALS2CL 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALS2CL 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia als2cl 35
  • 58.29 (n)
  • 52.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7158 36
  • 15 (a)
OneToMany
Species with no ortholog for ALS2CL:
  • 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for ALS2CL Gene

ENSEMBL:
Gene Tree for ALS2CL (if available)
TreeFam:
Gene Tree for ALS2CL (if available)

Paralogs for ALS2CL Gene

Paralogs for ALS2CL Gene

(3) SIMAP similar genes for ALS2CL Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ALS2CL: view

Variants for ALS2CL Gene

Sequence variations from dbSNP and Humsavar for ALS2CL Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs182500904 -- 46,686,246(+) GCCCC(C/T)CAACA intron-variant
rs182708078 -- 46,674,251(+) GGGCT(C/G)TGAGG intron-variant, downstream-variant-500B
rs182993088 -- 46,669,101(+) ATCTC(C/T)GCTCA utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B
rs183097823 -- 46,670,003(+) CAAAT(C/T)CACCC utr-variant-3-prime, nc-transcript-variant
rs183232058 -- 46,674,147(+) CCAGC(C/T)TCAGC intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for ALS2CL Gene

Variant ID Type Subtype PubMed ID
dgv5127n71 CNV Gain 21882294
nsv516623 CNV Loss 19592680
dgv1455e1 CNV Complex 17122850
nsv428417 CNV Loss 18775914
dgv5128n71 CNV Loss 21882294
nsv10268 CNV Gain 18304495
nsv876743 CNV Loss 21882294

Variation tolerance for ALS2CL Gene

Residual Variation Intolerance Score: 84.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.84; 95.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALS2CL Gene

HapMap Linkage Disequilibrium report
ALS2CL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALS2CL Gene

Disorders for ALS2CL Gene

Relevant External Links for ALS2CL

Genetic Association Database (GAD)
ALS2CL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALS2CL
genes like me logo Genes that share disorders with ALS2CL: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALS2CL Gene

Publications for ALS2CL Gene

  1. ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics. (PMID: 17239822) Suzuki-Utsunomiya K. … Ikeda J.-E. (Biochem. Biophys. Res. Commun. 2007) 2 67
  2. ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics. (PMID: 15388334) Hadano S. … Ikeda J.-E. (FEBS Lett. 2004) 2 67
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 2 67
  4. Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease. (PMID: 23425335) Jouan L. … Rouleau G.A. (Behav Brain Funct 2013) 67
  5. Multiple tumor-suppressor genes on chromosome 3p contribute to head and neck squamous cell carcinoma tumorigenesis. (PMID: 20657180) Lee D.J. … Su G.H. (Cancer Biol. Ther. 2010) 67

Products for ALS2CL Gene

Sources for ALS2CL Gene

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