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B9d2
Gene Detail
Symbol

Name
ID
B9d2
B9 protein domain 2
MGI:2387643
Synonyms
MGC:41256, stumpy
Feature Type
protein coding gene
Genetic Map
Chromosome 7
13.97 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr7:25681158-25686558 bp, + strand
From Ensembl annotation of GRCm38

  5401 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12733  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: B9D2
Gene Tree: B9d2

Human
homologs
B9D2, B9 protein domain 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 80776
neXtProt AC: NX_Q9BPU9

Human Synonyms: ICIS-1, MKS10, MKSR2

Human Chr (Location): 19q13.2; chr19:41354417-41364540 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human B9D2

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(7) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development.
 
Interactions
B9d2 interacts with 42 markers (Mir129-1, Mir129-2, Mir140, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell projection organization, cilium assembly
Component cell projection, centrosome, ...
Function gamma-tubulin binding, protein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(4)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase b9d2 ; ZFIN b9d2    NEW 
Molecular
reagents
All nucleic(4) cDNA(4)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000063439 (Evidence)
Entrez Gene 232987 (Evidence)
DoTS DT.40168306, DT.101364482
NIA Mouse Gene Index U178529
Consensus CDS Project CCDS20992.1
International Mouse Phenotyping Consortium Status B9d2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000063439 Ensembl Gene Model | MGI Sequence Detail 5401 C57BL/6J ±  kb
transcript ENSMUST00000108403 Ensembl | MGI Sequence Detail 1021 Not Applicable 
polypeptide ENSMUSP00000104040 Ensembl | MGI Sequence Detail 175 Not Applicable 

For the selected sequences
All sequences(16) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(10 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010796 B9 domain
Protein Ontology PR:000004612 B9 domain-containing protein 2
References
(Earliest) J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
(Latest) J:204761 Edwards JP, et al., Regulation of the expression of GARP/latent TGF-beta1 complexes on mouse T cells and their role in regulatory T cell and Th17 differentiation. J Immunol. 2013 Jun 1;190(11):5506-15
All references(35)

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
05/20/2015
MGI 5.22
The Jackson Laboratory