SDR42E2

Summary

SDR42E2 (short chain dehydrogenase/reductase family 42E, member 2, HGNC:35414) is a protein-coding gene on chromosome 16p12.1, encoding Putative short-chain dehydrogenase/reductase family 42E member 2 (A6NKP2).

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.

Source: NCBI Gene 100288072 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001394319

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35414
Approved symbol	SDR42E2
Name	short chain dehydrogenase/reductase family 42E, member 2
Location	16p12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183921
Ensembl biotype	protein_coding
Entrez	100288072

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 nonsense_mediated_decay

ENST00000602312, ENST00000684942, ENST00000686682, ENST00000687571

RefSeq mRNA: 2 — MANE Select: NM_001394319 NM_001365288, NM_001394319

CCDS: CCDS92125

Canonical transcript exons

ENST00000602312 — 13 exons

Exon	Start	End
ENSE00001289661	22172256	22172331
ENSE00001312771	22178130	22178212
ENSE00001316930	22170833	22170951
ENSE00001487828	22169445	22169502
ENSE00003285830	22166250	22166434
ENSE00003292220	22186721	22186794
ENSE00003311230	22166904	22166999
ENSE00003366034	22190139	22191751
ENSE00003393425	22182212	22182277
ENSE00003422850	22181519	22181656
ENSE00003438555	22184181	22184244
ENSE00003755474	22165547	22165637
ENSE00003930263	22162506	22162564

Expression profiles

Bgee: expression breadth broad, 46 present calls, max score 81.23.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	81.23	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	62.18	gold quality
pituitary gland	UBERON:0000007	59.53	gold quality
adenohypophysis	UBERON:0002196	58.17	gold quality
bone marrow cell	CL:0002092	56.43	gold quality
fallopian tube	UBERON:0003889	56.02	gold quality
right testis	UBERON:0004534	54.83	gold quality
left testis	UBERON:0004533	54.31	gold quality
right frontal lobe	UBERON:0002810	53.41	gold quality
caudate nucleus	UBERON:0001873	53.29	gold quality
testis	UBERON:0000473	53.15	gold quality
Brodmann (1909) area 9	UBERON:0013540	52.00	gold quality
nucleus accumbens	UBERON:0001882	51.90	gold quality
hypothalamus	UBERON:0001898	51.85	gold quality
anterior cingulate cortex	UBERON:0009835	50.91	gold quality
Ammon’s horn	UBERON:0001954	50.45	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	50.06	gold quality
left uterine tube	UBERON:0001303	49.88	gold quality
cerebral cortex	UBERON:0000956	48.83	gold quality
brain	UBERON:0000955	48.29	gold quality
temporal lobe	UBERON:0001871	48.00	gold quality
amygdala	UBERON:0001876	47.92	gold quality
superior frontal gyrus	UBERON:0002661	47.83	silver quality
granulocyte	CL:0000094	47.76	silver quality
frontal cortex	UBERON:0001870	47.43	gold quality
endocervix	UBERON:0000458	47.40	gold quality
skeletal muscle tissue	UBERON:0001134	46.48	silver quality
muscle tissue	UBERON:0002385	45.93	silver quality
duodenum	UBERON:0002114	45.76	gold quality
bone marrow	UBERON:0002371	45.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-124858	no	7.71
E-ANND-3	no	0.80

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sdr42e2	ENSDARG00000059914
mus_musculus	Sdr42e2	ENSMUSG00000109392
rattus_norvegicus	Sdr42e2	ENSRNOG00000068806
caenorhabditis_elegans		WBGENE00022498
caenorhabditis_elegans		WBGENE00022616

Paralogs (10): TGDS (ENSG00000088451), HSD3B7 (ENSG00000099377), GFUS (ENSG00000104522), GMDS (ENSG00000112699), UXS1 (ENSG00000115652), GALE (ENSG00000117308), NSDHL (ENSG00000147383), SDR42E1 (ENSG00000184860), HSD3B1 (ENSG00000203857), HSD3B2 (ENSG00000203859)

Protein

Protein identifiers

Putative short-chain dehydrogenase/reductase family 42E member 2 — A6NKP2 (reviewed: A6NKP2)

All UniProt accessions (4): A0A8I5KQB5, A0A8I5KWA0, A0A8I5QKM4, A6NKP2

UniProt curated annotations — full annotation on UniProt →

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

RefSeq proteins (2): NP_001352217, NP_001381248* (*=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 (4 total): chain 1, region of interest 1, active site 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NKP2-F1	86.58	0.66

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): 176 (proton acceptor)

Ligand- & substrate-binding residues (1): 180

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_STEROID_METABOLIC_PROCESS, chr16p12, GOMF_OXIDOREDUCTASE_ACTIVITY, WP_CHOLESTEROL_BIOSYNTHESIS_PATHWAY_IN_HEPATOCYTES, WP_16P122_COPY_NUMBER_VARIATION_SYNDROME_520KB

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 (0):

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

Protein interactions and networks

STRING

112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SDR42E2	CRAMP1	Q96RY5	651
SDR42E2	NDUFAF2	Q8N183	556
SDR42E2	TADA2B	Q86TJ2	546
SDR42E2	CACNG1	Q06432	531
SDR42E2	UNC45B	Q8IWX7	492
SDR42E2	LMOD3	Q0VAK6	486
SDR42E2	F2RL2	O00254	442
SDR42E2	B3GNT9	Q6UX72	407
SDR42E2	MCMDC2	Q4G0Z9	404
SDR42E2	IQCF1	Q8N6M8	375
SDR42E2	CACNA1H	O95180	357
SDR42E2	RASL10B	Q96S79	339
SDR42E2	PCDHGB7	Q9Y5F8	285
SDR42E2	CELF6	Q96J87	267
SDR42E2	HRH2	P25021	257

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MYLK	SDR42E2	psi-mi:“MI:0915”(physical association)	0.400
SDR42E2	NUMA1	psi-mi:“MI:0915”(physical association)	0.400
ATG16L1		psi-mi:“MI:0914”(association)	0.350

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: A0A7H0DNE2, A4TSC8, A6NKP2, A7FCU3, A9R683, B1JQW4, B2FI29, B2JYP2, C0Q1V2, C0QZ84, C4K8I6, O35048, O35296, O35469, O46516, O57245, P14060, P14893, P21097, P22071, P22072, P24815, P26149, P26150, P26439, P26670, P27364, P27365, P33794, P9WQP6, P9WQP7, Q1C276, Q1CD11, Q31FG4, Q57IC3, Q5IFP1, Q60555, Q61694, Q61767, Q62878

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	1
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
564306	GRCh37/hg19 16p12.2(chr16:21948756-22442007)x1	Pathogenic
3024601	GRCh37/hg19 16p12.2(chr16:21964682-22385940)x1	Likely pathogenic

SpliceAI

1962 predictions. Top by Δscore:

Variant	Effect	Δscore
16:22166902:A:AG	acceptor_gain	1.0000
16:22166903:G:GG	acceptor_gain	1.0000
16:22170788:T:G	acceptor_gain	1.0000
16:22170809:T:A	acceptor_gain	1.0000
16:22172243:T:A	acceptor_gain	1.0000
16:22172244:G:A	acceptor_gain	1.0000
16:22172250:T:TA	acceptor_gain	1.0000
16:22178315:GC:G	donor_gain	1.0000
16:22181583:TCC:T	donor_gain	1.0000
16:22181645:GGC:G	donor_gain	1.0000
16:22181646:GC:G	donor_gain	1.0000
16:22181653:GGCT:G	donor_gain	1.0000
16:22181654:GCTG:G	donor_gain	1.0000
16:22181657:G:GG	donor_gain	1.0000
16:22184179:A:AG	acceptor_gain	1.0000
16:22184180:G:GG	acceptor_gain	1.0000
16:22184245:G:GA	donor_loss	1.0000
16:22184246:T:G	donor_loss	1.0000
16:22166896:T:A	acceptor_gain	0.9900
16:22166899:TGCA:T	acceptor_loss	0.9900
16:22166900:GCA:G	acceptor_loss	0.9900
16:22166901:CA:C	acceptor_loss	0.9900
16:22166902:A:AT	acceptor_loss	0.9900
16:22166902:AG:A	acceptor_gain	0.9900
16:22166902:AGGCT:A	acceptor_gain	0.9900
16:22166903:GG:G	acceptor_gain	0.9900
16:22166903:GGC:G	acceptor_gain	0.9900
16:22166903:GGCT:G	acceptor_gain	0.9900
16:22166903:GGCTG:G	acceptor_gain	0.9900
16:22166980:G:GT	donor_gain	0.9900

AlphaMissense

2705 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:22170871:A:C	S145R	0.995
16:22170873:C:A	S145R	0.995
16:22170873:C:G	S145R	0.995
16:22170872:G:T	S145I	0.986
16:22172281:A:T	K180I	0.985
16:22172282:A:C	K180N	0.985
16:22172282:A:T	K180N	0.985
16:22166959:T:A	V99D	0.980
16:22178160:G:C	R207P	0.980
16:22172278:C:T	T179I	0.979
16:22190166:T:C	F348L	0.979
16:22190168:C:A	F348L	0.979
16:22190168:C:G	F348L	0.979
16:22169474:T:A	N122K	0.976
16:22169474:T:G	N122K	0.976
16:22170860:T:C	L141P	0.972
16:22170837:T:G	C133W	0.971
16:22170889:T:C	F151L	0.970
16:22170891:T:A	F151L	0.970
16:22170891:T:G	F151L	0.970
16:22178152:T:G	C204W	0.970
16:22181578:C:A	N244K	0.970
16:22181578:C:G	N244K	0.970
16:22182224:T:G	Y275D	0.970
16:22178157:T:A	L206H	0.968
16:22182231:T:A	I277N	0.965
16:22182236:G:C	D279H	0.965
16:22190182:C:A	A353D	0.965
16:22170835:T:C	C133R	0.964
16:22170836:G:A	C133Y	0.964

dbSNP variants (sampled 300 via entrez): RS1000076903 (16:22164345 G>C), RS1000175416 (16:22161429 T>C), RS1000300266 (16:22188939 C>T), RS1000618992 (16:22191562 G>C,T), RS1000637056 (16:22169264 C>G), RS1000717056 (16:22185422 C>T), RS1000797288 (16:22188531 C>T), RS1000972658 (16:22169615 C>T), RS1001032330 (16:22166219 C>G), RS1001237446 (16:22163819 C>G,T), RS1001247210 (16:22164193 A>G), RS1001413618 (16:22188882 T>A,C), RS1001424462 (16:22169987 G>A), RS1001482526 (16:22187608 A>C), RS1001495718 (16:22173616 CA>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
beauvericin	affects cotreatment, increases expression	1
enniatins	affects cotreatment, increases expression	1
2-palmitoylglycerol	increases expression	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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