Gene

itm2bb

ID
ZDB-GENE-040426-2139
Name
integral membrane protein 2Bb
Symbol
itm2bb Nomenclature History
Previous Names
  • itm2bl
  • fb94b03
  • wu:fb94b03
  • zgc:64142
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to enable amyloid-beta binding activity. Predicted to be involved in negative regulation of amyloid precursor protein biosynthetic process. Predicted to be located in Golgi membrane and endosome membrane. Predicted to be active in Golgi apparatus and plasma membrane. Is expressed in blood; macrophage; pronephric duct; ventral mesenchyme; and yolk syncytial layer. Human ortholog(s) of this gene implicated in ITM2B-related cerebral amyloid angiopathy 1 and ITM2B-related cerebral amyloid angiopathy 2. Orthologous to human ITM2B (integral membrane protein 2B).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
11 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa13204Allele with one point mutationUnknownPremature StopENU
sa34652Allele with one point mutationUnknownSplice SiteENU
sa41427Allele with one point mutationUnknownSplice SiteENU
1 - 3 of 3
Show
Sequence Targeting Reagents
No data available
Human Disease
Associated With itm2bb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
ITM2B-related cerebral amyloid angiopathy 1 Alliance Dementia, familial British 176500
ITM2B-related cerebral amyloid angiopathy 2 Alliance Dementia, familial Danish 117300
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 616079
1 - 3 of 3
Associated With itm2bb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR007084 BRICHOS domain
Family IPR040145 Integral membrane protein 2
1 - 2 of 2
Domain Details Per Protein
Protein Additional Resources Length BRICHOS domain Integral membrane protein 2
UniProtKB:Q7T328 InterPro 254
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 9
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA itm2bb-201 (1) Ensembl 1,505 nt
ncRNA itm2bb-002 (1) Ensembl 575 nt
1 - 2 of 2
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-260F1ZFIN Curated Data
EncodesESTfb94b03
EncodesESTIMAGE:6907762Thisse et al., 2004
EncodescDNAMGC:64142ZFIN Curated Data
EncodescDNAMGC:174051ZFIN Curated Data
1 - 5 of 5
Show
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanITM2B13
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
MouseItm2b14
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
1 - 7 of 7
Show