The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] See more...

Aliases for RABL2B Gene

Aliases for RABL2B Gene

  • RAB, Member Of RAS Oncogene Family Like 2B 2 3 5
  • Rab-Like Protein 2B 3 4
  • RABL2B 5

External Ids for RABL2B Gene

Previous GeneCards Identifiers for RABL2B Gene

  • GC22M047709
  • GC22M049338
  • GC22M049496
  • GC22M049552
  • GC22M051205
  • GC22M034098

Summaries for RABL2B Gene

Entrez Gene Summary for RABL2B Gene

  • The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for RABL2B Gene

RABL2B (RAB, Member Of RAS Oncogene Family Like 2B) is a Protein Coding gene. Diseases associated with RABL2B include Oligoasthenoteratozoospermia and Chromosome 16P13.3 Duplication Syndrome. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RABL2A.

UniProtKB/Swiss-Prot Summary for RABL2B Gene

  • Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability (PubMed:28625565). Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259).

Additional gene information for RABL2B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RABL2B Gene

Genomics for RABL2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RABL2B 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 RABL2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RABL2B

Top Transcription factor binding sites by QIAGEN in the RABL2B gene promoter:
  • AML1a
  • GR
  • GR-alpha
  • GR-beta
  • HOXA3
  • MyoD
  • RFX1
  • STAT3
  • XBP-1
  • Zic3

Genomic Locations for RABL2B Gene

Genomic Locations for RABL2B Gene
chr22:50,767,500-50,783,705
(GRCh38/hg38)
Size:
16,206 bases
Orientation:
Minus strand
chr22:51,205,920-51,222,091
(GRCh37/hg19)
Size:
16,172 bases
Orientation:
Minus strand

Genomic View for RABL2B Gene

Genes around RABL2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABL2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABL2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABL2B Gene

Proteins for RABL2B Gene

  • Protein details for RABL2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNT1-RBL2B_HUMAN
    Recommended name:
    Rab-like protein 2B
    Protein Accession:
    Q9UNT1
    Secondary Accessions:
    • Q5TZT8
    • Q96C33

    Protein attributes for RABL2B Gene

    Size:
    228 amino acids
    Molecular mass:
    26101 Da
    Quaternary structure:
    • Interacts (in its GTP-bound form) with CEP19 (via residues 121-150); this interaction is required for its localization to the mother centriole and cilium basal body. Interacts (in its GTP-bound form) with the intraflagellar transport (IFT) complex B (via the IFT74-IFT81 heterodimer) (PubMed:28625565, PubMed:28428259). Binding to CEP19 and the IFT74-IFT81 heterodimer is mutually exclusive (PubMed:28428259).

    Alternative splice isoforms for RABL2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RABL2B Gene

Post-translational modifications for RABL2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RABL2B Gene

Domains & Families for RABL2B Gene

Gene Families for RABL2B Gene

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

Protein Domains for RABL2B Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
ProtoNet:

Suggested Antigen Peptide Sequences for RABL2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78724, highly similar to Homo sapiens RAB, member of RAS oncogene family-like 2B (RABL2B), transcript variant 1, mRNA (Q6IC14_HUMAN)
  • Rab-like protein 2B (RBL2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNT1

UniProtKB/Swiss-Prot:

RBL2B_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 RABL2B: view

Function for RABL2B Gene

Molecular function for RABL2B Gene

UniProtKB/Swiss-Prot Function:
Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability (PubMed:28625565). Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259).
GENATLAS Biochemistry:
RAB like gene 2B,ubiquitously expressed

Phenotypes From GWAS Catalog for RABL2B Gene

Gene Ontology (GO) - Molecular Function for RABL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 28428259
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RABL2B: view
genes like me logo Genes that share phenotypes with RABL2B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABL2B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RABL2B Gene

Localization for RABL2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABL2B Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm. Note=Localizes on the mother centriole. Localizes slightly apical to the subdistal appendage, but below the distal appendage. {ECO:0000269 PubMed:28625565}.

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 RABL2B gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RABL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 28625565
GO:0005737 cytoplasm IEA,IDA 28625565
GO:0005814 centriole IEA,IDA 28428259
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with RABL2B: view

Pathways & Interactions for RABL2B Gene

PathCards logo

SuperPathways for RABL2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for RABL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0030030 cell projection organization IEA --
GO:0032482 Rab protein signal transduction IBA --
GO:0042073 intraciliary transport IMP 28625565
GO:0060271 cilium assembly IMP 28625565
genes like me logo Genes that share ontologies with RABL2B: view

No data available for Pathways by source and SIGNOR curated interactions for RABL2B Gene

Drugs & Compounds for RABL2B Gene

No Compound Related Data Available

Transcripts for RABL2B Gene

mRNA/cDNA for RABL2B Gene

22 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
15 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 RABL2B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RABL2B Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4
SP1:
SP2: - -

Relevant External Links for RABL2B Gene

GeneLoc Exon Structure for
RABL2B

Expression for RABL2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RABL2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RABL2B

SOURCE GeneReport for Unigene cluster for RABL2B Gene:

Hs.584862

mRNA Expression by UniProt/SwissProt for RABL2B Gene:

Q9UNT1-RBL2B_HUMAN
Tissue specificity: Expressed in the testis.

Evidence on tissue expression from TISSUES for RABL2B Gene

  • Eye(4.1)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with RABL2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABL2B Gene

Orthologs for RABL2B Gene

This gene was present in the common ancestor of animals.

Orthologs for RABL2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RABL2B 30 31
  • 99.4 (n)
ManyToMany
-- 31
  • 98 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia LOC100685429 30
  • 88.84 (n)
-- 31
  • 88 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia LOC515671 30
  • 87.03 (n)
-- 31
  • 79 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 84 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rabl2 31
  • 83 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
OneToMany
Chicken
(Gallus gallus)
Aves RABL2B 30 31
  • 72.42 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 80 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rabl2b 30
  • 71.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25505 30
Zebrafish
(Danio rerio)
Actinopterygii rabl2 30 31
  • 70.83 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta RabX6 31
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4950 31
  • 60 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1851 30
Species where no ortholog for RABL2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RABL2B Gene

ENSEMBL:
Gene Tree for RABL2B (if available)
TreeFam:
Gene Tree for RABL2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RABL2B: view image

Paralogs for RABL2B Gene

genes like me logo Genes that share paralogs with RABL2B: view

Variants for RABL2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RABL2B Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
719849 Likely Benign: not provided 50,769,106(-) G/A NONSENSE
769168 Benign: not provided 50,769,034(-) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RABL2B Gene

Structural Variations from Database of Genomic Variants (DGV) for RABL2B Gene

Variant ID Type Subtype PubMed ID
nsv1160783 CNV duplication 26073780
nsv966116 CNV duplication 23825009

Variation tolerance for RABL2B Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABL2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABL2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABL2B Gene

Disorders for RABL2B Gene

MalaCards: The human disease database

(5) MalaCards diseases for RABL2B Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RABL2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RABL2B Gene

Publications for RABL2B 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 AC … McDermid HE (Genomics 1999) 2 3 4
  2. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. (PMID: 28428259) Nishijima Y … Nakayama K (Molecular biology of the cell 2017) 3 4
  3. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. (PMID: 28625565) Kanie T … Jackson PK (Developmental cell 2017) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4

Products for RABL2B Gene

  • Signalway Proteins for RABL2B

Sources for RABL2B Gene