The DTNBP1 gene homepage

General information
Gene symbol DTNBP1
Gene name dystrobrevin binding protein 1
Chromosome 6
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_009309.1
Transcript reference NM_001271667.1, NM_001271668.1, NM_001271669.1, NM_032122.4, NM_183040.2, NR_036448.1, XM_005249447.2
Associated with diseases HPS-7, SCZD
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 76
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 204
Date created November 30, -0001
Date last updated September 28, 2016
Version DTNBP1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:17328
Entrez Gene 84062
PubMed articles DTNBP1
OMIM - Gene 607145
OMIM - Diseases HPS-7 (Hermansky-Pudlak syndrome, type 7 (HPS-7))
SCZD (schizophrenia (SCZD))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011254 6 transcript variant 2 NM_183040.2 NP_898861.1 74
00031489 6 Manually created transcript NM_001271667.1 - 73
00011253 6 transcript variant 1 NM_032122.4 NP_115498.2 71
00045522 6 transcript variant 5 NM_001271668.1 NP_001258597.1 71
00045524 6 transcript variant 6 NM_001271669.1 NP_001258598.1 71
00045523 6 transcript variant X1 XM_005249447.2 XP_005249504.1 -
00045525 6 transcript variant 4 NR_036448.1 - -