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Aliases for ALS2CL Gene

Aliases for ALS2CL Gene

  • ALS2 C-Terminal Like 2 3
  • ALS2 C-Terminal-Like Protein 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. Diseases associated with ALS2CL include blepharitis. GO annotations related to this gene include identical protein binding and Rho guanyl-nucleotide exchange factor activity. 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

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 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 :
  • Q60I27
Domain:
  • Contains 1 VPS9 domain.
Similarity:
  • Contains 8 MORN repeats.
genes like me logo Genes that share domains with ALS2CL: view

No data available for Gene Families for ALS2CL Gene

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:0005515 protein binding --
GO:0017137 Rab GTPase binding IEA --
GO:0042802 identical protein binding IPI 17239822
genes like me logo Genes that share ontologies with ALS2CL: view

Phenotypes for ALS2CL Gene

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

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 3
endosome 2
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ALS2CL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016023 cytoplasmic membrane-bounded vesicle IEA --
genes like me logo Genes that share ontologies with ALS2CL: view

Pathways 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:0008104 protein localization IEA --
GO:0035023 regulation of Rho protein signal transduction --
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 for ALS2CL Gene

Compounds for ALS2CL Gene

(3) HMDB Compounds for ALS2CL Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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 (6.1), Kidney - Cortex (4.9), and Skin - Not Sun Exposed (Suprapubic) (4.0).

Integrated Proteomics: protein expression 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 expressions with ALS2CL: view

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
chimpanzee
(Pan troglodytes)
Mammalia ALS2CL 36
  • 97 (a)
OneToOne
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
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
rat
(Rattus norvegicus)
Mammalia Als2cl 35
  • 82.56 (n)
  • 82.56 (a)
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

Selected 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
rs939413 -- 46,668,608(+) TCACC(A/G)CTGAA downstream-variant-500B
rs939415 -- 46,668,672(+) GAGCT(A/G)GGCCC downstream-variant-500B
rs1980247 -- 46,669,210(+) atttt(A/G)tattt utr-variant-3-prime, nc-transcript-variant
rs3210183 -- 46,670,360(-) TGTGA(C/T)GTCTG utr-variant-3-prime, nc-transcript-variant
rs3747519 -- 46,669,645(+) GCTCC(C/T)GGCAG utr-variant-3-prime, nc-transcript-variant

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

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

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for ALS2CL Gene including...

Search for ALS2CL Gene in MalaCards »

(1) University of Copenhagen DISEASES for ALS2CL Gene

Relevant External Links for ALS2CL

Genetic Association Database (GAD)
ALS2CL
genes like me logo Genes that share disorders with ALS2CL: view

No data available for UniProtKB/Swiss-Prot 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 3 4
  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 3 4
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for ALS2CL Gene

Sources for ALS2CL Gene

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