Aliases for ALS2CL Gene

Aliases for ALS2CL Gene

  • ALS2 C-Terminal Like 2 3 5
  • ALS2 C-Terminal-Like Protein 3 4
  • RN49018 2 3
  • DKFZp686I0110 2
  • FLJ36525 2
  • ALS2CL 5

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 Deafness, Autosomal Recessive 6. 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 RSPH10B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ALS2CL Gene

Genomics for ALS2CL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALS2CL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALS2CL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALS2CL

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

Genomic Locations for ALS2CL Gene

Genomic Locations for ALS2CL Gene
chr3:46,668,995-46,693,704
(GRCh38/hg38)
Size:
24,710 bases
Orientation:
Minus strand
chr3:46,710,485-46,735,194
(GRCh37/hg19)
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; 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ALS2CL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALS2CL Gene

GenScript: Design optimal peptide antigens:
  • ALS2 C-terminal-like protein (AL2CL_HUMAN)
  • cDNA FLJ35136 fis, clone PLACE6009338 (Q8NAL7_HUMAN)
genes like me logo Genes that share domains with ALS2CL: view

No data available for Graphical View of Domain Structure and 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: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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALS2CL

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
endosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
golgi apparatus 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

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 --
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

mRNA/cDNA for ALS2CL Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALS2CL

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

Expression for ALS2CL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.5)
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
Chimpanzee
(Pan troglodytes)
Mammalia ALS2CL 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ALS2CL 30 31
  • 87.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ALS2CL 30 31
  • 87.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Als2cl 30 17 31
  • 82.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Als2cl 30
  • 82.56 (n)
Oppossum
(Monodelphis domestica)
Mammalia ALS2CL 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 13 (a)
ManyToMany
-- 31
  • 12 (a)
ManyToMany
-- 31
  • 6 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves ALS2CL 30 31
  • 61.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALS2CL 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia als2cl 30
  • 58.29 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7158 31
  • 15 (a)
OneToMany
Species where no ortholog for ALS2CL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
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:

  • AL2CL_HUMAN
  • F8WCP1_HUMAN
  • G3V0I7_HUMAN
  • G5E9N5_HUMAN
  • H7C0M4_HUMAN
genes like me logo Genes that share paralogs with ALS2CL: view

Variants for ALS2CL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALS2CL Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs761960683 Uncertain Significance: not specified 46,671,984(-) CG/C NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
VAR_037792 A breast cancer sample p.Gln280Glu
VAR_037793 A breast cancer sample p.Leu576Phe
rs59661801 - p.Gln29Arg
rs7642448 - p.Glu45Gln

Additional dbSNP identifiers (rs#s) for ALS2CL Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for ALS2CL Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 6
  • dfnb6
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALS2CL

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

No data available for 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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ALS2CL Gene

Sources for ALS2CL Gene