DHRS9

dehydrogenase/reductase 9, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 2:169064789-169096167

Links

ENSG00000073737

∙ NCBI:10170 ∙ OMIM:612131 ∙ HGNC:16888 ∙ Uniprot:Q9BPW9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHRS9 gene.

not_specified (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001376924.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			41 clinvar	1 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS9	protein_coding	protein_coding	ENST00000327239	4	31379

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.23e-8	0.155	125371	0	369	125740	0.00147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.05	211	172	1.23	0.00000891	2066
Missense in Polyphen		67	53.271	1.2577		608
Synonymous	0.348	63	66.6	0.946	0.00000372	648
Loss of Function	0.0219	11	11.1	0.993	4.65e-7	153

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00113	0.00113
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000164	0.000163
Finnish	0.00310	0.00310
European (Non-Finnish)	0.00213	0.00212
Middle Eastern	0.000164	0.000163
South Asian	0.000327	0.000327
Other	0.00229	0.00228

dbNSFP

Source: dbNSFP

Function: FUNCTION: 3-alpha-hydroxysteroid dehydrogenase that converts 3- alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone. May play a role in the biosynthesis of retinoic acid from retinaldehyde, but seems to have low activity with retinoids. Can utilize both NADH and NADPH. {ECO:0000269|PubMed:11294878, ECO:0000269|PubMed:11304534, ECO:0000269|PubMed:12618084}.;
Pathway: Retinol metabolism - Homo sapiens (human);Vitamin A Deficiency;Retinol Metabolism;Signaling by GPCR;Signal Transduction;RA biosynthesis pathway;The canonical retinoid cycle in rods (twilight vision);retinol biosynthesis;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;G alpha (i) signalling events;Visual phototransduction;the visual cycle I (vertebrates);GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.138

Intolerance Scores

loftool: 0.0918
rvis_EVS: 0.66
rvis_percentile_EVS: 84.55

Haploinsufficiency Scores

pHI: 0.165
hipred: N
hipred_score: 0.285
ghis: 0.384

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.101

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Dhrs9
Phenotype

Zebrafish Information Network

Gene name: dhrs9
Affected structure: neural crest cell
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: androgen metabolic process;epithelial cell differentiation;progesterone metabolic process;retinol metabolic process;9-cis-retinoic acid biosynthetic process;oxidation-reduction process
Cellular component: endoplasmic reticulum membrane;integral component of endoplasmic reticulum membrane;organelle membrane
Molecular function: alcohol dehydrogenase (NAD) activity;retinol dehydrogenase activity;racemase and epimerase activity;testosterone dehydrogenase (NAD+) activity