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Aliases for ALS2CL Gene

Aliases for ALS2CL Gene

  • ALS2 C-Terminal Like 2 3 5
  • 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. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include identical protein binding and Rab GTPase binding. An important paralog of this gene is ALS2.

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 , CIViC 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

Enhancers for ALS2CL 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
GH03G046690 1.5 Ensembl ENCODE dbSUPER 17.8 -0.3 -290 7.2 SIN3A YY1 GATA2 FOS ZNF263 SP3 JUNB REST SMARCB1 ZNF579 ALS2CL PRSS50 LRRC2 PRSS45 TMIE
GH03G046848 1.3 Ensembl ENCODE dbSUPER 17.8 -155.5 -155536 1.7 CTCF CBX3 PKNOX1 NFIB ZNF792 TAL1 TEAD4 MAX YBX1 RAD21 PRSS45 ALS2CL PTH1R MYL3 PRSS44 PRSS46 PRSS42
GH03G046844 1.4 Ensembl ENCODE dbSUPER 16 -152.2 -152178 2.6 KLF17 NFXL1 RAD21 GLIS2 EGR1 ZSCAN5C EGR2 ZNF263 SP3 ELF1 PRSS45 ALS2CL PTH1R MYL3 PRSS44 PRSS50 LRRC2 PRSS42
GH03G046628 1.5 FANTOM5 Ensembl ENCODE 11.5 +64.2 64245 2.4 HDGF HDAC1 ATF1 CBX3 RB1 CREB3L1 NFXL1 ZBTB40 RAD21 CBX5 LTF ALS2CL TDGF1 RTP3 PRSS45 CCDC12 GC03P046626 GC03P046650
GH03G046672 0.7 ENCODE 15.8 +20.5 20455 2.1 CTCF ZFP64 BHLHE40 GATAD2B TBX21 RAD21 POLR2A EED IKZF1 NBN ALS2CL PRSS45 ENSG00000251967
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALS2CL on UCSC Golden Path with GeneCards custom track

Promoters for ALS2CL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000151914 104 801 RB1 YY1 EGR1 EGR2 ZNF263 SP3 SMARCB1 NR2F2 ZNF579 IRF1

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

Genes around ALS2CL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALS2CL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ALS2CL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

No data available for UniProtKB/Swiss-Prot 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:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
GO:0042802 identical protein binding IPI 17239822
genes like me logo Genes that share ontologies with ALS2CL: view
genes like me logo Genes that share phenotypes with ALS2CL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 ALS2CL gene
Compartment Confidence
cytosol 5
nucleus 2
endosome 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ALS2CL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ALS2CL: view

Pathways & Interactions for ALS2CL Gene

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

Pathways by source for ALS2CL Gene

Interacting Proteins for ALS2CL Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000313670%0d%0a9606.ENSP00000273047%0d%0a9606.ENSP00000381003%0d%0a9606.ENSP00000433757%0d%0a9606.ENSP00000305958%0d%0a9606.ENSP00000367208%0d%0a
Selected Interacting proteins: Q60I27-AL2CL_HUMAN ENSP00000313670 for ALS2CL Gene via IID STRING

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 --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with ALS2CL: view

No data available for 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ALS2CL Gene



Protein tissue co-expression partners for ALS2CL Gene

NURSA nuclear receptor signaling pathways regulating expression of ALS2CL Gene:

ALS2CL

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.

Evidence on tissue expression from TISSUES for ALS2CL Gene

  • Liver(4.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with ALS2CL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALS2CL 34 35
  • 87.5 (n)
cow
(Bos Taurus)
Mammalia ALS2CL 34 35
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Als2cl 34 16 35
  • 82.63 (n)
rat
(Rattus norvegicus)
Mammalia Als2cl 34
  • 82.56 (n)
oppossum
(Monodelphis domestica)
Mammalia ALS2CL 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 13 (a)
ManyToMany
-- 35
  • 12 (a)
ManyToMany
-- 35
  • 6 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ALS2CL 34 35
  • 61.74 (n)
lizard
(Anolis carolinensis)
Reptilia ALS2CL 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia als2cl 34
  • 58.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7158 35
  • 15 (a)
OneToMany
Species where no ortholog for ALS2CL 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)
  • 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
VAR_037792 A breast cancer sample
VAR_037793 A breast cancer sample
rs1000295317 -- 46,695,061(+) GCCTC(C/T)CCTCC intron-variant, upstream-variant-2KB
rs1000350399 -- 46,688,778(+) CTCCC(A/G)GCACC intron-variant
rs1000423727 -- 46,689,154(+) AACCT(C/G)GGAGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2759147 CNV loss 17122850
esv3596066 CNV gain 21293372
nsv10268 CNV gain 18304495
nsv428417 CNV loss 18775914
nsv516623 CNV loss 19592680
nsv590179 CNV loss 21841781
nsv954478 CNV deletion 24416366

Variation tolerance for ALS2CL Gene

Residual Variation Intolerance Score: 84.4% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for ALS2CL Gene.

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 3 4 64
  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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 2 3 64
  5. 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) 3 64

Products for ALS2CL Gene

Sources for ALS2CL Gene

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