SDR42E1

Summary

SDR42E1 (short chain dehydrogenase/reductase family 42E, member 1, HGNC:29834) is a protein-coding gene on chromosome 16q23.3, encoding Short-chain dehydrogenase/reductase family 42E member 1 (Q8WUS8).

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane.

Source: NCBI Gene 93517 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 88 total
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_145168

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29834
Approved symbol	SDR42E1
Name	short chain dehydrogenase/reductase family 42E, member 1
Location	16q23.3
Locus type	gene with protein product
Status	Approved
Aliases	HSPC105
Ensembl gene	ENSG00000184860
Ensembl biotype	protein_coding
OMIM	616164
Entrez	93517

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000328945, ENST00000532128, ENST00000534209, ENST00000867081, ENST00000867082, ENST00000867083, ENST00000867084, ENST00000867085, ENST00000941004

RefSeq mRNA: 1 — MANE Select: NM_145168 NM_145168

CCDS: CCDS42205

Canonical transcript exons

ENST00000328945 — 3 exons

Exon	Start	End
ENSE00001301322	81988855	82000224
ENSE00001377307	82011387	82011470
ENSE00003678054	82000791	82000884

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 89.36.

FANTOM5 (CAGE): breadth broad, TPM avg 3.0500 / max 47.8080, expressed in 590 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158296	2.2211	531
158295	0.8289	324

Top tissues by expression

237 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	89.36	gold quality
epithelial cell of pancreas	CL:0000083	85.14	gold quality
islet of Langerhans	UBERON:0000006	81.48	gold quality
jejunal mucosa	UBERON:0000399	81.44	gold quality
duodenum	UBERON:0002114	80.76	gold quality
pancreatic ductal cell	CL:0002079	80.40	silver quality
skin of leg	UBERON:0001511	80.03	gold quality
skin of hip	UBERON:0001554	79.61	gold quality
skin of abdomen	UBERON:0001416	79.38	gold quality
zone of skin	UBERON:0000014	79.29	gold quality
mammalian vulva	UBERON:0000997	78.06	silver quality
esophagus squamous epithelium	UBERON:0006920	77.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.02	gold quality
palpebral conjunctiva	UBERON:0001812	76.63	gold quality
secondary oocyte	CL:0000655	76.37	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.21	gold quality
gingival epithelium	UBERON:0001949	76.10	silver quality
ileal mucosa	UBERON:0000331	75.82	gold quality
pancreas	UBERON:0001264	75.18	gold quality
esophagus mucosa	UBERON:0002469	74.99	gold quality
epithelium of nasopharynx	UBERON:0001951	74.04	gold quality
gingiva	UBERON:0001828	74.02	silver quality
rectum	UBERON:0001052	73.32	gold quality
lower esophagus mucosa	UBERON:0035834	72.83	gold quality
kidney epithelium	UBERON:0004819	72.70	gold quality
body of pancreas	UBERON:0001150	72.56	gold quality
penis	UBERON:0000989	72.33	gold quality
tonsil	UBERON:0002372	72.12	gold quality
mucosa of transverse colon	UBERON:0004991	71.67	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.62	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYCN

miRNA regulators (miRDB)

76 targeting SDR42E1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-23B-5P	99.98	66.07	587
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-202-5P	99.78	67.65	991

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 2)

• Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome. (PMID:34133966)
• In silico characterization of the novel SDR42E1 as a potential vitamin D modulator. (PMID:38160768)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sdr42e1	ENSDARG00000098838
mus_musculus	Sdr42e1	ENSMUSG00000034308
rattus_norvegicus	Sdr42e1	ENSRNOG00000051819
caenorhabditis_elegans		WBGENE00022498
caenorhabditis_elegans		WBGENE00022616

Paralogs (10): TGDS (ENSG00000088451), HSD3B7 (ENSG00000099377), GFUS (ENSG00000104522), GMDS (ENSG00000112699), UXS1 (ENSG00000115652), GALE (ENSG00000117308), NSDHL (ENSG00000147383), SDR42E2 (ENSG00000183921), HSD3B1 (ENSG00000203857), HSD3B2 (ENSG00000203859)

Protein

Protein identifiers

Short-chain dehydrogenase/reductase family 42E member 1 — Q8WUS8 (reviewed: Q8WUS8)

All UniProt accessions (2): E9PQ06, Q8WUS8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the 3-beta-HSD family.

RefSeq proteins (1): NP_660151* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002225	3Beta_OHSteriod_DH/Estase	Domain
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily
IPR050177	Lipid_A_modif_metabolic_enz	Family

Pfam: PF01073

UniProt features (10 total): sequence variant 4, transmembrane region 2, chain 1, active site 1, binding site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUS8-F1	89.38	0.71

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 152 (proton acceptor)

Ligand- & substrate-binding residues (1): 156

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (1): steroid biosynthetic process (GO:0006694)

GO Molecular Function (2): oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), oxidoreductase activity (GO:0016491)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
steroid metabolic process	1
lipid biosynthetic process	1
oxidoreductase activity, acting on CH-OH group of donors	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2597 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SDR42E1	HSD17B2	P37059	484
SDR42E1	CPNE6	O95741	476
SDR42E1	CCDC8	Q9H0W5	461
SDR42E1	TRMT6	Q9UJA5	456
SDR42E1	CEP295	Q9C0D2	452
SDR42E1	SYTL1	Q8IYJ3	452
SDR42E1	STK33	Q9BYT3	447
SDR42E1	CIAPIN1	Q6FI81	445
SDR42E1	NCAPD2	Q15021	437
SDR42E1	CHAD	O15335	433
SDR42E1	ZDHHC7	Q9NXF8	425
SDR42E1	MYO6	Q9UM54	410
SDR42E1	SCO2	O43819	406
SDR42E1	SLX4	Q8IY92	399
SDR42E1	DSC3	Q14574	398

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SRPK2	SDR42E1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440

BioGRID (3): DARS (Cross-Linking-MS (XL-MS)), SDR42E1 (Affinity Capture-MS), SDR42E1 (Biochemical Activity)

ESM2 similar proteins: A2A825, A6NKP2, A6NNS2, B4F753, D3ZGP9, D3ZRW8, D3ZVU9, O35469, O54783, O55229, O95278, P14893, P22071, P22072, P26149, P27365, P47802, Q15738, Q1M199, Q1RMJ5, Q32L94, Q3UGX3, Q3ZBE9, Q4R4U1, Q4R7R1, Q5IFP1, Q5PPL3, Q5R5F8, Q5ZIW1, Q60555, Q62878, Q6P4H8, Q7RTV5, Q8CHS7, Q8CIW5, Q8N9F0, Q8WUS8, Q91XQ2, Q923S8, Q96RR1

Diamond homologs: A6NKP2, A8DZE7, B2FI29, D4GP33, I3PLR3, O35296, O46516, P0DX24, P14060, P14893, P22071, P22072, P24815, P26149, P26150, P26439, P27364, P27365, P9WQP6, P9WQP7, Q0IH73, Q32L94, Q3ZBE9, Q4R7R1, Q5IFP1, Q5PPL3, Q60555, Q61767, Q62878, Q64421, Q67ZE1, Q89187, Q8EG63, Q8PDW5, Q8WUS8, Q9D665, Q9EQC1, Q9FX01, Q9N119, Q9R1J0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

88 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	83
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

751 predictions. Top by Δscore:

Variant	Effect	Δscore
16:82000220:CCAGG:C	acceptor_gain	1.0000
16:82000221:CAGG:C	acceptor_gain	1.0000
16:82000221:CAGGC:C	acceptor_gain	1.0000
16:82000225:C:CC	acceptor_gain	1.0000
16:82000811:T:TA	donor_gain	1.0000
16:82000833:T:A	donor_gain	1.0000
16:82000883:ACC:A	acceptor_loss	1.0000
16:82000885:C:CA	acceptor_loss	1.0000
16:82000886:T:C	acceptor_loss	1.0000
16:82000222:AGG:A	acceptor_gain	0.9900
16:82000223:GG:G	acceptor_gain	0.9900
16:82000224:GCTGA:G	acceptor_loss	0.9900
16:82000225:C:A	acceptor_loss	0.9900
16:82000784:CACTT:C	donor_loss	0.9900
16:82000785:ACTT:A	donor_loss	0.9900
16:82000786:CTTA:C	donor_loss	0.9900
16:82000787:TTA:T	donor_loss	0.9900
16:82000788:TA:T	donor_loss	0.9900
16:82000789:A:AC	donor_gain	0.9900
16:82000789:ACCG:A	donor_loss	0.9900
16:82000790:C:A	donor_loss	0.9900
16:82000790:C:CC	donor_gain	0.9900
16:82000881:GGACC:G	acceptor_gain	0.9900
16:82000883:ACCTG:A	acceptor_gain	0.9900
16:82000885:C:CC	acceptor_gain	0.9900
16:82000974:CG:C	donor_gain	0.9900
16:82011385:A:AC	donor_gain	0.9900
16:82011386:C:CC	donor_gain	0.9900
16:82011386:CAG:C	donor_gain	0.9900
16:82000880:TGGAC:T	acceptor_gain	0.9800

AlphaMissense

2562 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:81999927:G:C	S122R	0.996
16:81999927:G:T	S122R	0.996
16:81999929:T:G	S122R	0.996
16:81999825:C:A	K156N	0.995
16:81999825:C:G	K156N	0.995
16:81999742:C:G	R184T	0.994
16:81999928:C:A	S122I	0.993
16:81999741:C:A	R184S	0.990
16:81999741:C:G	R184S	0.990
16:81999724:C:T	G190E	0.989
16:81999742:C:A	R184M	0.988
16:81999627:A:C	F222L	0.986
16:81999627:A:T	F222L	0.986
16:81999629:A:G	F222L	0.986
16:81999909:A:C	F128L	0.985
16:81999909:A:T	F128L	0.985
16:81999911:A:G	F128L	0.985
16:81999996:G:C	N99K	0.985
16:81999996:G:T	N99K	0.985
16:81999750:G:C	C181W	0.984
16:81999937:A:T	V119D	0.983
16:81999539:A:C	Y252D	0.982
16:81999589:G:T	A235D	0.981
16:81999743:T:C	R184G	0.981
16:81999925:G:A	T123I	0.981
16:81999602:C:G	A231P	0.980
16:81999625:A:T	V223D	0.980
16:81999826:T:G	K156T	0.980
16:81999715:T:A	E193V	0.979
16:81999498:G:C	F265L	0.977

dbSNP variants (sampled 300 via entrez): RS1000026916 (16:82007463 A>G), RS1000086170 (16:82003279 C>A,G,T), RS1000167790 (16:82011140 C>G,T), RS1000552153 (16:82006420 T>G), RS1000597928 (16:81993257 C>A), RS1000633338 (16:82010414 T>C), RS1000706603 (16:82011312 G>A,C), RS1000794365 (16:81990276 G>C), RS1001072091 (16:82009738 G>T), RS1001177740 (16:82005225 G>A,C), RS1001210363 (16:82005461 C>T), RS1001346321 (16:81988544 T>C), RS1001446875 (16:82005762 G>C), RS1001488683 (16:81988672 T>A), RS1001501421 (16:82000689 C>G,T)

Disease associations

OMIM: gene MIM:616164 | disease phenotypes: MIM:619638, MIM:619636

GenCC curated gene-disease

Mondo (2): spondylometaphyseal dysplasia, pagnamenta type (MONDO:0030487), acromesomelic dysplasia 4 (MONDO:0030553)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
butyraldehyde	increases expression	1
nickel sulfate	decreases expression	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	increases expression	1
abrine	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Copper	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Lead	decreases expression	1
NADP	affects binding, increases activity	1
Valproic Acid	decreases methylation	1
Vanadates	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.