The TMEM5 gene homepage

NOTE: gene name changed from TMEM5 to RXYLT1

General information
Gene symbol	TMEM5
Gene name	transmembrane protein 5
Chromosome	12
Chromosomal band	q14.1
Imprinted	Unknown
Genomic reference	NC_000012.11
Transcript reference	NM_014254.1
Exon/intron information	NM_014254.1 exon/intron table
Associated with diseases	CSLE, MDDGA10
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (1)	Johan den Dunnen
Total number of public variants reported	47
Unique public DNA variants reported	30
Individuals with public variants	24
Hidden variants	-
Download all this gene's data	Download all data
Notes	NOTE: gene name changed from TMEM5 to RXYLT1 Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created	April 01, 2013
Date last updated	May 05, 2025
Version	TMEM5:250505

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_014254.1.
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	http://www.LOVD.nl/RXYLT1
HGNC	HGNC:13530
Entrez Gene	10329
PubMed articles	TMEM5
OMIM - Gene	605862
OMIM - Diseases	MDDGA10 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A10 (MDDGA-10))
HGMD	TMEM5
GeneCards	TMEM5
NIH Genetic Testing Registry	TMEM5
Orphanet	TMEM5

Active transcripts

Legend

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How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00021253	12	transmembrane protein 5	NM_014254.1	NP_055069.1	47

Copyright & disclaimer
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Global Variome shared LOVD

TMEM5 (transmembrane protein 5)