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
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000297679.5 | HSD3B7-001 | 2172 | 369aa | ENSP00000297679.5 | Protein coding | CCDS10698 | I3L2H6 Q9H2F3 | NM_025193.3 | Ensembl Canonical, GENCODE basic, |
ENST00000262520.6 | HSD3B7-002 | 2200 | 196aa | ENSP00000262520.6 | Protein coding | CCDS45466 | I3L2H6 Q9H2F3 | NM_001142777.1 | GENCODE basic, |
ENST00000353250.5 | HSD3B7-201 | 2022 | 196aa | ENSP00000370662.4 | Protein coding | CCDS45466 | I3L2H6 Q9H2F3 | NM_001142778.1 | GENCODE basic, |
ENST00000562932.1 | HSD3B7-003 | 746 | 219aa | ENSP00000459852.1 | Protein coding | I3L2Q9 | - | CDS 3' incomplete, | |
ENST00000574447.1 | HSD3B7-004 | 746 | 176aa | ENSP00000459689.1 | Protein coding | I3L2H6 | - | CDS 3' incomplete, |