The TMEM38B gene homepage


Osteogenesis Imperfecta Variant Database
General information
Gene symbol TMEM38B
Gene name transmembrane protein 38B
Chromosome 9
Chromosomal band q31.2
Imprinted Unknown
Genomic reference NG_032971.1
Transcript reference NM_018112.2
Exon/intron information NM_018112.2 exon/intron table
Associated with diseases OI, OI14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha
Total number of public variants reported 49
Unique public DNA variants reported 17
Individuals with public variants 41
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created November 13, 2012
Date last updated September 27, 2023
Version TMEM38B:230927

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_018112.2.
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
Homepage URL https://www.LOVD.nl/TMEM38B
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 25535
Entrez Gene 55151
PubMed articles TMEM38B
OMIM - Gene 611236
OMIM - Diseases OI14 (osteogenesis imperfecta, type XIV (OI14))
HGMD TMEM38B
GeneCards TMEM38B
GeneTests TMEM38B
Orphanet TMEM38B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025614 9 transmembrane protein 38B NM_018112.2 NP_060582.1 49


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