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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 RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. Gene Ontology (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.

Additional gene information for ALS2CL Gene

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

GeneHancer (GH) Regulatory Elements for ALS2CL Gene

Promoters and enhancers for ALS2CL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J046690 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 667.8 -0.3 -290 7.2 RB1 NFIB ZBTB40 RAD21 YY1 ZNF335 EGR1 ZNF143 RCOR1 FOS ALS2CL TMIE PRSS50 LRRC2 PRSS45
GH03J046844 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 16 -152.2 -152177 2.6 SIN3A GLIS2 ZNF143 ZFP91 RUNX3 ZNF263 SP3 REST ZNF518A ZNF610 PRSS42 PRSS45 ALS2CL PTPN23 SETD2 PTH1R MYL3 BOLA2P2 PRSS44 PRSS50
GH03J046848 Enhancer 1 Ensembl ENCODE dbSUPER 17.8 -155.5 -155536 1.7 CTCF PKNOX1 ZBTB6 ZNF792 MAX PYGO2 RAD21 NR2F2 ZKSCAN8 ZNF143 PRSS45 ALS2CL PTH1R MYL3 PRSS44 PRSS46P PRSS42
GH03J046628 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.5 +64.2 64244 2.4 HDGF ATF1 ZNF280A CBX5 ZNF143 ZFP91 ATF7 RUNX3 NCOA1 REST SETD2 RN7SL145P PTPN23 LTF CCDC12 ALS2CL TDGF1 BOLA2P2 RTP3 XCR1
GH03J046584 Enhancer 0.9 ENCODE 10.4 +107.7 107687 2.6 FOXA2 MLX THRB ZSCAN9 RAD21 YY1 ZNF614 CREM MIXL1 RXRA TDGF1 RTP3 LTF ALS2CL PRSS46P LRRC2 ENSG00000283877 PIR44476
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALS2CL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALS2CL gene promoter:
  • NF-1
  • c-Ets-1
  • Elk-1
  • c-Myc
  • Max1
  • COMP1

Genomic Locations for ALS2CL Gene

Genomic Locations for ALS2CL Gene
24,710 bases
Minus strand
24,710 bases
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:
    Recommended name:
    ALS2 C-terminal-like protein
    Protein Accession:
    Secondary Accessions:
    • Q32MA1
    • Q6AI56
    • Q6ZNC5
    • Q6ZNC7
    • Q6ZTL4
    • Q86YD2
    • Q8N9U1
    • Q8NAL7

    Protein attributes for ALS2CL Gene

    953 amino acids
    Molecular mass:
    107748 Da
    Quaternary structure:
    • Homodimer. Forms a heteromeric complex with ALS2 (By similarity). Interacts with ALS2 and RAB5A.
    • 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


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.

Phenotypes From GWAS Catalog for ALS2CL Gene

Gene Ontology (GO) - Molecular Function for ALS2CL Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Clone 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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALS2CL Gene

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

Gene Ontology (GO) - Biological Process for ALS2CL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007032 endosome organization IGI 17239822
GO:0043547 positive regulation of GTPase activity IEA --
GO:0065009 regulation of molecular function IEA --
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:

Clone 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: -
SP8: - - -

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: -

Relevant External Links for ALS2CL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for ALS2CL Gene:


mRNA Expression by UniProt/SwissProt for ALS2CL Gene:

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

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
(Pan troglodytes)
Mammalia ALS2CL 34
  • 97 (a)
(Canis familiaris)
Mammalia ALS2CL 34 33
  • 87.5 (n)
(Bos Taurus)
Mammalia ALS2CL 34 33
  • 87.48 (n)
(Mus musculus)
Mammalia Als2cl 16 34 33
  • 82.63 (n)
(Rattus norvegicus)
Mammalia Als2cl 33
  • 82.56 (n)
(Monodelphis domestica)
Mammalia ALS2CL 34
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 13 (a)
-- 34
  • 12 (a)
-- 34
  • 6 (a)
(Gallus gallus)
Aves ALS2CL 34 33
  • 61.74 (n)
(Anolis carolinensis)
Reptilia ALS2CL 34
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia als2cl 33
  • 58.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7158 34
  • 15 (a)
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

Gene Tree for ALS2CL (if available)
Gene Tree for ALS2CL (if available)
Evolutionary constrained regions (ECRs) for ALS2CL: view image

Paralogs for ALS2CL Gene

Paralogs for ALS2CL Gene

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

  • G3V0I7_HUMAN
  • G5E9N5_HUMAN
  • H7C0M4_HUMAN
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 Variation AA Info Type
VAR_037792 A breast cancer sample p.Gln280Glu
VAR_037793 A breast cancer sample p.Leu576Phe
rs761960683 uncertain-significance, not specified 46,671,985(-) G/ coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs1000295317 -- 46,695,061(-) C/T upstream_transcript_variant
rs1000350399 -- 46,688,778(-) G/A genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for ALS2CL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ALS2CL Gene

Additional Disease Information for 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 JE (Biochemical and biophysical research communications 2007) 2 3 4 58
  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 JE (FEBS letters 2004) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 2 3 58
  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 GA (Behavioral and brain functions : BBF 2013) 3 58

Products for ALS2CL Gene

Sources for ALS2CL Gene

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