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B9d1 Gene Detail
Summary
  • Symbol
    B9d1
  • Name
    B9 protein domain 1
  • Synonyms
    B9, Eppb9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351471
    NCBI Gene: 27078
Location & Maps
more
  • Sequence Map
    Chr11:61505144-61512931 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7788 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.96 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    B9D1, B9 domain containing 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    B9D1, B9 domain containing 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    B9, EPPB9, MKS9, MKSR1
  • Links
    NCBI Gene ID: 27077
    neXtProt AC: NX_Q9UPM9

  • Chr Location
    17p11.2; chr17:19335263-19378182 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 8440
    1 human;1 mouse;2 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: B9D1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human B9D1 associations

Human Disease Mouse Models
       Meckel Syndrome, Type 9; MKS9   OMIM: 614209
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 2 alleles in 4 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving B9d1
  • Incidental Mutations
Mice homozygous for a gene trap or knock-out allele exhibit ciliary defects including kidney cysts, cleft palate, dextrocardia, holoprosencephaly, polydactyly, micropthalmia, ventricular septal defects, and thin myocardium.
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005834 VEGA Gene Model | MGI Sequence Detail 7788 C57BL/6J ±  kb
transcript OTTMUST00000012967 VEGA | MGI Sequence Detail 817 Not Applicable  
polypeptide OTTMUSP00000006030 VEGA | MGI Sequence Detail 204 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    65 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000030466 B9 domain-containing protein 1
  • InterPro Domains
    IPR010796 B9 domain
Molecular
Reagents
less
  • All nucleic 46
    cDNA 46

    Microarray probesets 3
Other
Accession IDs
less
MGI:2144479
References
more
  • Summaries
    All 30
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 9
  • 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:178978 Chih B, et al., A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14(1):61-72

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory