Gene: HSD3B7 ENSG00000099377

Description

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Source:HGNC Symbol;Acc:18324]

Gene Synonyms

C(27)-3BETA-HSD, CBAS1, PFIC4, SDR11E3

Location

Chromosome 16: 30,996,519-31,000,473 forward strand.

GRCh37:CM000678.1

About this gene

This gene has 5 transcripts (splice variants), 5 paralogues and is associated with 4 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000297679.5	HSD3B7-001	2172	369aa	ENSP00000297679.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10698	I3L2H6 Q9H2F3	NM_025193.3	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,
ENST00000262520.6	HSD3B7-002	2200	196aa	ENSP00000262520.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45466	I3L2H6 Q9H2F3	NM_001142777.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000353250.5	HSD3B7-201	2022	196aa	ENSP00000370662.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45466	I3L2H6 Q9H2F3	NM_001142778.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000562932.1	HSD3B7-003	746	219aa	ENSP00000459852.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L2Q9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000574447.1	HSD3B7-004	746	176aa	ENSP00000459689.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L2H6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

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Gene: HSD3B7 ENSG00000099377

Summary