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Arl13b Gene Detail
Summary
  • Symbol
    Arl13b
  • Name
    ADP-ribosylation factor-like 13B
  • Synonyms
    A530097K21Rik, A930014M17Rik, Arl2l1, C530009C10Rik, hnn
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915396
    NCBI Gene: 68146
  • Gene Overview
    MyGene.info: ARL13B
Location & Maps
more
  • Sequence Map
    Chr16:62793685-62847040 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      53356 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 36.43 cM, cytoband C1.2
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    ARL13B, ADP ribosylation factor like GTPase 13B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ARL13B, ADP ribosylation factor like GTPase 13B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARL2L1, JBTS8
  • Links
    NCBI Gene ID: 200894
    neXtProt AC: NX_Q3SXY8

  • Chr Location
    3q11.1; chr3:93980134-94055678 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ARL13B associations

Human Disease Mouse Models
       Joubert Syndrome 8; JBTS8   OMIM: 612291
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 3 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    1
  • Gene trapped
    3
  • Targeted
    4
  • Incidental Mutations
Mice homozygous for an ENU-induced mutation die at E13-E14 exhibiting left-right randomization and absence of the floor plate in the caudal spinal cord.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024090 VEGA Gene Model | MGI Sequence Detail 53356 C57BL/6J ±  kb
transcript OTTMUST00000058920 VEGA | MGI Sequence Detail 3528 Not Applicable  
polypeptide OTTMUSP00000028614 VEGA | MGI Sequence Detail 427 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    280 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004277 ADP-ribosylation factor-like protein 13B
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR006689 Small GTPase superfamily, ARF/SAR type
    IPR024156 Small GTPase superfamily, ARF type
    IPR005225 Small GTP-binding protein domain
Molecular
Reagents
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  • All nucleic 41
    cDNA 41

    Microarray probesets 5
Other
Accession IDs
less
MGI:1925200, MGI:3026930, MGI:3578137
References
more
  • Summaries
    All 102
    Developmental Gene Expression 57
    Gene Ontology 17
    Phenotypes 18
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:232342 Stewart K, et al., A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects. PLoS Genet. 2016 Feb;12(2):e1005785

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory