ETDB

Summary

ETDB (embryonic testis differentiation homolog B, HGNC:44269) is a protein-coding gene on chromosome Xq26.3, encoding Embryonic testis differentiation protein homolog B (P0DPP9).

At a glance

• MANE Select transcript: NM_001355519

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44269
Approved symbol	ETDB
Name	embryonic testis differentiation homolog B
Location	Xq26.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000224107
Ensembl biotype	protein_coding
Entrez	100129515

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000423661, ENST00000426364

RefSeq mRNA: 1 — MANE Select: NM_001355519 NM_001355519

CCDS: CCDS87781

Canonical transcript exons

ENST00000423661 — 3 exons

Exon	Start	End
ENSE00001681442	135120440	135120526
ENSE00001701655	135119734	135119971
ENSE00001710269	135118955	135119310

Expression profiles

Bgee: expression breadth broad, 98 present calls, max score 80.04.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	80.04	gold quality
testis	UBERON:0000473	79.55	gold quality
right testis	UBERON:0004534	78.61	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	56.23	gold quality
right adrenal gland cortex	UBERON:0035827	53.29	gold quality
right adrenal gland	UBERON:0001233	49.97	gold quality
left adrenal gland cortex	UBERON:0035825	44.30	gold quality
left adrenal gland	UBERON:0001234	43.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	43.13	gold quality
adrenal gland	UBERON:0002369	42.95	gold quality
ventricular zone	UBERON:0003053	41.93	gold quality
right uterine tube	UBERON:0001302	41.28	silver quality
bone marrow cell	CL:0002092	41.19	gold quality
superior frontal gyrus	UBERON:0002661	40.63	gold quality
bone marrow	UBERON:0002371	40.52	gold quality
cortex of kidney	UBERON:0001225	39.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	39.11	gold quality
stromal cell of endometrium	CL:0002255	38.47	gold quality
primary visual cortex	UBERON:0002436	37.78	gold quality
Brodmann (1909) area 9	UBERON:0013540	37.29	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right frontal lobe	UBERON:0002810	36.76	gold quality
mucosa of stomach	UBERON:0001199	36.72	silver quality
anterior cingulate cortex	UBERON:0009835	36.68	gold quality
cerebral cortex	UBERON:0000956	36.49	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
caudate nucleus	UBERON:0001873	36.41	gold quality
sural nerve	UBERON:0015488	35.78	gold quality
adrenal tissue	UBERON:0018303	35.53	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (2): ETDA (ENSG00000238210), ETDC (ENSG00000283644)

Protein

Protein identifiers

Embryonic testis differentiation protein homolog B — P0DPP9 (reviewed: P0DPP9)

All UniProt accessions (1): P0DPP9

RefSeq proteins (1): NP_001342448* (*=MANE)

Domains & families (InterPro)

UniProt features (3 total): chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DPP9-F1	63.15	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chrXq26

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVM5, A0A8D9PH56, C0H3U7, C0H3W1, C0H421, G2TRJ6, G2TRM4, K7LSB9, O29949, O62692, O62693, P03085, P03086, P0C5N7, P0C5Q0, P0C5Q7, P0CA82, P0CA83, P0CAI8, P0CAI9, P0CAJ0, P0CE99, P0DPP9, P0DSI0, P0DTB5, P14998, P27942, P32034, P34830, P54429, P75692, Q06R69, Q16048, Q3B7S5, Q3E7K4, Q3E804, Q3ZM63, Q54C00, Q54E17, Q54NK2

Diamond homologs: A0A1B0GVM5, P0DPP9, Q3ZM63, Q80SW5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1158655743 (X:135120287 C>T), RS1158679960 (X:135118674 T>C), RS1158717048 (X:135119529 G>A), RS1161132914 (X:135120426 T>G), RS1162973020 (X:135118825 C>G), RS1163180329 (X:135122079 G>A), RS1163821303 (X:135120752 C>A), RS1164690900 (X:135119661 C>T), RS1164744657 (X:135122158 C>T), RS1165416892 (X:135119001 A>T), RS1166248500 (X:135122164 A>G), RS1167317706 (X:135119204 A>T), RS1167437744 (X:135120926 C>T), RS1169018756 (X:135119904 A>G), RS1170588843 (X:135119926 C>T)

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)

Clinical trials (associated diseases)

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