Gene: MBTPS2 ENSG00000012174

Description

membrane-bound transcription factor peptidase, site 2 [Source:HGNC Symbol;Acc:15455]

Gene Synonyms

BRESEK, IFAP, KFSDX, S2P

Location

GRCh37:CM000685.1

About this gene

This gene has 3 transcripts (splice variants) and is associated with 8 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000379484.5	MBTPS2-001	4428	519aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14201	O43462	NM_015884.3	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,
ENST00000365779.2	MBTPS2-002	4457	330aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B9ZVQ3	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000465888.1	MBTPS2-003	1862	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Name

MBTPS2 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: O43462

CCDS

This gene is a member of the Human CCDS set: CCDS14201.1

Ensembl version

ENSG00000012174.7

Other assemblies

This gene maps to 21,839,636-21,885,424 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:	OTTHUMG00000021237 (version 1)

Loading component