Gene: MVK ENSG00000110921

Description

mevalonate kinase [Source:HGNC Symbol;Acc:7530]

Gene Synonyms

LRBP, MK, MVLK, POROK3

Location

Chromosome 12: 110,011,060-110,035,067 forward strand.

GRCh37:CM000674.1

About this gene

This gene has 13 transcripts (splice variants) and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000228510.3	MVK-001	1952	396aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9132	B2RDU6 B7Z1C2 F5GXC0 F5H092 Q03426	NM_001114185.1	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000392727.3	MVK-003	1770	344aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z1C2 F5H8H2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000539575.1	MVK-201	1095	344aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z1C2 F5H8H2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000541384.1	MVK-202	1075	202aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z1C2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000546277.1	MVK-007	886	200aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5GXC0 F5H092	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000539335.1	MVK-006	834	170aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5GXC0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000539696.1	MVK-009	608	115aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000447878.2	MVK-004	1644	83aa	Nonsense mediated decay		F5H163	-	-
ENST00000537237.1	MVK-002	1296	117aa	Nonsense mediated decay		F5H368	-	-
ENST00000545774.1	MVK-012	702	83aa	Nonsense mediated decay		F5H163	-	-
ENST00000535044.1	MVK-010	548	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000540353.1	MVK-005	4109	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000545516.1	MVK-011	522	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

MVK (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q03426

CCDS

This gene is a member of the Human CCDS set: CCDS9132.1

LRG

LRG_156 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000110921.7

Other assemblies

This gene maps to 109,573,255-109,597,262 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000169256 (version 2)

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Gene: MVK ENSG00000110921

Summary