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Aliases for RABL2A Gene

Aliases for RABL2A Gene

  • RAB, Member Of RAS Oncogene Family-Like 2A 2 3 5

External Ids for RABL2A Gene

Previous GeneCards Identifiers for RABL2A Gene

  • GC02P111590
  • GC02P112305
  • GC02P114291
  • GC02P114479
  • GC02P114480
  • GC02P114101
  • GC02P114384
  • GC02P106705

Summaries for RABL2A Gene

Entrez Gene Summary for RABL2A Gene

  • This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

GeneCards Summary for RABL2A Gene

RABL2A (RAB, Member Of RAS Oncogene Family-Like 2A) is a Protein Coding gene. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RABL2B.

UniProtKB/Swiss-Prot for RABL2A Gene

  • Plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABL2A Gene

Genomics for RABL2A Gene

Regulatory Elements for RABL2A Gene

Enhancers for RABL2A 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around RABL2A on UCSC Golden Path with GeneCards custom track

Promoters for RABL2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RABL2A on UCSC Golden Path with GeneCards custom track

Genomic Location for RABL2A Gene

Chromosome:
2
Start:
113,627,229 bp from pter
End:
113,643,398 bp from pter
Size:
16,170 bases
Orientation:
Plus strand

Genomic View for RABL2A Gene

Genes around RABL2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABL2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABL2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABL2A Gene

Proteins for RABL2A Gene

  • Protein details for RABL2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBK7-RBL2A_HUMAN
    Recommended name:
    Rab-like protein 2A
    Protein Accession:
    Q9UBK7
    Secondary Accessions:
    • B7ZBD6
    • Q9NU37

    Protein attributes for RABL2A Gene

    Size:
    228 amino acids
    Molecular mass:
    26115 Da
    Quaternary structure:
    • Interacts with ITF27, ITF81, ITF172, ATP6V1E1, HK1, LDHC, MAPRE1 and HSPA2.

    Alternative splice isoforms for RABL2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RABL2A Gene

Post-translational modifications for RABL2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RABL2A Gene

Domains & Families for RABL2A Gene

Gene Families for RABL2A Gene

Protein Domains for RABL2A Gene

Suggested Antigen Peptide Sequences for RABL2A Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBK7

UniProtKB/Swiss-Prot:

RBL2A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RABL2A: view

Function for RABL2A Gene

Molecular function for RABL2A Gene

GENATLAS Biochemistry:
RAB like gene 2A,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail (By similarity).

Gene Ontology (GO) - Molecular Function for RABL2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 10444334
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RABL2A: view
genes like me logo Genes that share phenotypes with RABL2A: view

Animal Models for RABL2A Gene

MGI Knock Outs for RABL2A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RABL2A Gene

Localization for RABL2A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RABL2A Gene COMPARTMENTS Subcellular localization image for RABL2A gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for RABL2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with RABL2A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RABL2A Gene

Pathways & Interactions for RABL2A Gene

SuperPathways for RABL2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for RABL2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with RABL2A: view

No data available for Pathways by source and SIGNOR curated interactions for RABL2A Gene

Drugs & Compounds for RABL2A Gene

No Compound Related Data Available

Transcripts for RABL2A Gene

Unigene Clusters for RABL2A Gene

RAB, member of RAS oncogene family-like 2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RABL2A Gene

No ASD Table

Relevant External Links for RABL2A Gene

GeneLoc Exon Structure for
RABL2A
ECgene alternative splicing isoforms for
RABL2A

Expression for RABL2A Gene

mRNA expression in normal human tissues for RABL2A Gene

Protein differential expression in normal tissues from HIPED for RABL2A Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RABL2A Gene



Protein tissue co-expression partners for RABL2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RABL2A Gene:

RABL2A

SOURCE GeneReport for Unigene cluster for RABL2A Gene:

Hs.446425

mRNA Expression by UniProt/SwissProt for RABL2A Gene:

Q9UBK7-RBL2A_HUMAN
Tissue specificity: Expressed in the testis.
genes like me logo Genes that share expression patterns with RABL2A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RABL2A Gene

Orthologs for RABL2A Gene

This gene was present in the common ancestor of animals.

Orthologs for RABL2A Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Rabl2 34
  • 86.52 (n)
  • 83.64 (a)
Rabl2 16
Rabl2 35
  • 83 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia RABL2A 34
  • 98.83 (n)
  • 96.93 (a)
-- 35
  • 97 (a)
ManyToMany
RABL2B 35
  • 99 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Rabl2a 34
  • 87.12 (n)
  • 85.45 (a)
cow
(Bos Taurus)
Mammalia -- 35
  • 80 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 47 (a)
OneToMany
chicken
(Gallus gallus)
Aves RABL2B 35
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 80 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rabl2 35
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RabX6 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4950 35
  • 61 (a)
OneToMany
Species where no ortholog for RABL2A 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RABL2A Gene

ENSEMBL:
Gene Tree for RABL2A (if available)
TreeFam:
Gene Tree for RABL2A (if available)

Paralogs for RABL2A Gene

Paralogs for RABL2A Gene

genes like me logo Genes that share paralogs with RABL2A: view

Variants for RABL2A Gene

Sequence variations from dbSNP and Humsavar for RABL2A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1040646 -- 113,630,373(+) AACTC(A/G)GTTGG intron-variant
rs2238839 -- 113,631,191(-) TTggc(C/G/T)gggtg intron-variant
rs2258507 -- 113,634,411(+) GGGCA(C/T)GCAGG intron-variant
rs6719089 -- 113,639,435(+) tggcc(A/C)acatg intron-variant
rs6721778 -- 113,639,204(+) atcac(C/T)ggagc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RABL2A Gene

Variant ID Type Subtype PubMed ID
esv2759085 CNV gain+loss 17122850
esv3592016 CNV gain 21293372
esv3592027 CNV loss 21293372
nsv1001195 CNV gain 25217958
nsv508163 CNV deletion 20534489
nsv582714 CNV gain 21841781
nsv961495 CNV duplication 23825009

Variation tolerance for RABL2A Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RABL2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABL2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABL2A Gene

Disorders for RABL2A Gene

Relevant External Links for RABL2A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RABL2A

No disorders were found for RABL2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RABL2A Gene

Publications for RABL2A Gene

  1. Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13. (PMID: 10444334) Wong A.C. … McDermid H.E. (Genomics 1999) 2 3 4 65
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 65
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65
  4. Genetic variants in the RABL2A gene in fertile and oligoasthenospermic infertile men. (PMID: 24825419) Jamsai D. … O'Bryan M.K. (Fertil. Steril. 2014) 3 65
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 65

Products for RABL2A Gene

Sources for RABL2A Gene

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