About   Help   FAQ
B9d1
Gene Detail
Symbol

Name
ID
B9d1
B9 protein domain 1
MGI:1351471
Synonyms
B9, Eppb9
Feature Type
protein coding gene
Genetic Map
Chromosome 11
37.96 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:61505144-61512931 bp, + strand
From VEGA annotation of GRCm38

  7788 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8440  Vertebrate Homology Class
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: B9d1

Human
homologs
B9D1, B9 protein domain 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 27077
neXtProt AC: NX_Q9UPM9

Human Synonyms: B9, EPPB9, MKS9, MKSR1

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

Disease Associations: (1) Diseases Associated with Human B9D1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
B9d1 interacts with 35 markers (Mir125a, Mir125b-1, Mir125b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process camera-type eye development, cell projection organization, ...
Component cell projection, centrosome, ...
Function hedgehog receptor activity, protein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(46)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase b9d1 ; ZFIN b9d1    NEW 
Molecular
reagents
All nucleic(46) cDNA(46)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000005834 (Evidence)
Ensembl Gene Model ENSMUSG00000001039 (Evidence)
Entrez Gene 27078 (Evidence)
UniGene 261226
DFCI TC1580854
DoTS DT.97394491
NIA Mouse Gene Index U012720
Consensus CDS Project CCDS24815.1
International Mouse Phenotyping Consortium Status B9d1
Sequences
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 sequences
All sequences(40) RefSeq(10) UniProt(2)
Polymorphisms
SNPs within 2kb(65 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010796 B9 domain
Protein Ontology PR:000030466 B9 domain-containing protein 1
References
(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
All references(33)
Other
accession IDs
MGI:2144479

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory