ETDA

Summary

ETDA (embryonic testis differentiation homolog A, HGNC:53449) is a protein-coding gene on chromosome Xq26.3, encoding Embryonic testis differentiation protein homolog A (Q3ZM63).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001355522

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53449
Approved symbol	ETDA
Name	embryonic testis differentiation homolog A
Location	Xq26.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000238210
Ensembl biotype	protein_coding
Entrez	101928677

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000427686, ENST00000454551

RefSeq mRNA: 1 — MANE Select: NM_001355522 NM_001355522

CCDS: CCDS87782

Canonical transcript exons

ENST00000427686 — 3 exons

Exon	Start	End
ENSE00001598369	135253228	135253583
ENSE00001805482	135252567	135252804
ENSE00003791937	135252061	135252098

Expression profiles

Bgee: expression breadth ubiquitous, 113 present calls, max score 89.26.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.26	gold quality
left testis	UBERON:0004533	80.34	gold quality
right testis	UBERON:0004534	80.06	gold quality
testis	UBERON:0000473	79.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	68.23	gold quality
stromal cell of endometrium	CL:0002255	56.41	gold quality
adrenal tissue	UBERON:0018303	56.11	gold quality
right coronary artery	UBERON:0001625	55.38	gold quality
right adrenal gland	UBERON:0001233	50.21	gold quality
mucosa of stomach	UBERON:0001199	49.25	gold quality
adrenal gland	UBERON:0002369	47.79	gold quality
left adrenal gland	UBERON:0001234	47.66	gold quality
left adrenal gland cortex	UBERON:0035825	46.98	gold quality
mucosa of transverse colon	UBERON:0004991	46.12	gold quality
endometrium	UBERON:0001295	45.80	silver quality
left uterine tube	UBERON:0001303	45.45	gold quality
right adrenal gland cortex	UBERON:0035827	45.12	gold quality
descending thoracic aorta	UBERON:0002345	44.66	gold quality
right lung	UBERON:0002167	44.52	gold quality
right ovary	UBERON:0002118	44.12	gold quality
colonic epithelium	UBERON:0000397	43.87	gold quality
bone marrow	UBERON:0002371	42.70	silver quality
ectocervix	UBERON:0012249	42.24	gold quality
fallopian tube	UBERON:0003889	41.44	gold quality
body of pancreas	UBERON:0001150	41.23	gold quality
bone marrow cell	CL:0002092	40.97	gold quality
left lobe of thyroid gland	UBERON:0001120	40.89	gold quality
upper lobe of left lung	UBERON:0008952	40.64	gold quality
ventricular zone	UBERON:0003053	39.90	gold quality
thyroid gland	UBERON:0002046	39.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (2): ETDB (ENSG00000224107), ETDC (ENSG00000283644)

Protein

Protein identifiers

Embryonic testis differentiation protein homolog A — Q3ZM63 (reviewed: Q3ZM63)

All UniProt accessions (1): Q3ZM63

RefSeq proteins (1): NP_001342451* (*=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-Q3ZM63-F1	63.31	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

66 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ETDA	SCYGR7	A0A286YF01	723
ETDA	FAM240C	A0A1B0GVR7	717
ETDA	SCYGR1	A0A286YEY9	597
ETDA	OR4F16	Q6IEY1	581
ETDA	TMCO4	Q5TGY1	575
ETDA	SMIM36	A0A1B0GVT2	544
ETDA	SMIM41	A0A2R8YCJ5	542
ETDA	C1orf232	A0A0U1RR37	529
ETDA	EDDM13	A0A1B0GTR0	529
ETDA	TMDD1	P0DPE3	512
ETDA	SMIM38	A0A286YFK9	511
ETDA	MAMDC4	Q6UXC1	447
ETDA	CCDC201	A0A1B0GTI1	447
ETDA	SMIM28	A0A1B0GU29	433
ETDA	C10orf143	A0A1B0GUT2	431

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

1 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	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

383 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:135253436:T:A	W54R	0.946
X:135253436:T:C	W54R	0.946
X:135253396:A:C	R40S	0.906
X:135253396:A:T	R40S	0.906
X:135253438:G:C	W54C	0.901
X:135253438:G:T	W54C	0.901
X:135253382:T:C	F36L	0.874
X:135253384:T:A	F36L	0.874
X:135253384:T:G	F36L	0.874
X:135253414:A:C	R46S	0.849
X:135253414:A:T	R46S	0.849
X:135253395:G:C	R40T	0.820
X:135253442:T:A	W56R	0.799
X:135253442:T:C	W56R	0.799
X:135253386:T:C	L37S	0.776
X:135253437:G:C	W54S	0.756
X:135253404:G:T	G43V	0.745
X:135253395:G:T	R40I	0.737
X:135253394:A:G	R40G	0.733
X:135253383:T:C	F36S	0.724
X:135253444:G:C	W56C	0.722
X:135253444:G:T	W56C	0.722
X:135253413:G:C	R46T	0.705
X:135253428:T:A	L51Q	0.700
X:135253413:G:T	R46I	0.675
X:135253401:T:C	L42P	0.657
X:135253403:G:C	G43R	0.653
X:135253415:A:C	S47R	0.644
X:135253417:T:A	S47R	0.644
X:135253417:T:G	S47R	0.644

dbSNP variants (sampled 300 via entrez): RS1156299401 (X:135253261 G>A), RS1156637285 (X:135250857 G>T), RS1159433814 (X:135250248 C>A), RS1159848433 (X:135253384 T>C), RS1159982267 (X:135254084 A>C), RS1160104258 (X:135251710 T>A), RS1163194842 (X:135250384 TA>T,TAA), RS1163373329 (X:135251854 A>G), RS1166310309 (X:135253513 A>G), RS1167043332 (X:135253075 A>G), RS1168481722 (X:135250394 A>G,T), RS1170402317 (X:135253688 G>A), RS1170609805 (X:135252171 C>A), RS1171312540 (X:135250489 C>T), RS1171767830 (X:135250689 C>A)

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.