ETDC

Summary

ETDC (embryonic testis differentiation homolog C, HGNC:53450) is a protein-coding gene on chromosome Xq26.3, encoding Embryonic testis differentiation protein homolog C (A0A1B0GVM5).

At a glance

• MANE Select transcript: NM_001358449

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53450
Approved symbol	ETDC
Name	embryonic testis differentiation homolog C
Location	Xq26.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283644
Ensembl biotype	protein_coding
Entrez	110806299

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000635820, ENST00000850982

RefSeq mRNA: 1 — MANE Select: NM_001358449 NM_001358449

CCDS: CCDS87783

Canonical transcript exons

ENST00000635820 — 1 exons

Exon	Start	End
ENSE00004283141	135309480	135309659

Expression profiles

Bgee: expression breadth broad, 100 present calls, max score 69.75.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	69.75	gold quality
mucosa of stomach	UBERON:0001199	56.11	gold quality
corpus callosum	UBERON:0002336	51.43	gold quality
calcaneal tendon	UBERON:0003701	50.03	gold quality
liver	UBERON:0002107	38.37	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
stomach	UBERON:0000945	36.84	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
descending thoracic aorta	UBERON:0002345	36.47	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
right lobe of thyroid gland	UBERON:0001119	35.46	gold quality
body of stomach	UBERON:0001161	35.45	gold quality
right lobe of liver	UBERON:0001114	35.02	gold quality
bone marrow	UBERON:0002371	34.49	gold quality
body of pancreas	UBERON:0001150	33.90	gold quality
muscle of leg	UBERON:0001383	33.75	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
adrenal gland	UBERON:0002369	33.36	gold quality
gastrocnemius	UBERON:0001388	32.98	gold quality
blood	UBERON:0000178	32.72	gold quality
left adrenal gland	UBERON:0001234	32.65	gold quality
left ovary	UBERON:0002119	32.64	gold quality
fundus of stomach	UBERON:0001160	32.47	gold quality
pancreas	UBERON:0001264	32.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
small intestine Peyer’s patch	UBERON:0003454	31.85	gold quality
small intestine	UBERON:0002108	31.57	gold quality
intestine	UBERON:0000160	31.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (2): ETDB (ENSG00000224107), ETDA (ENSG00000238210)

Protein

Protein identifiers

Embryonic testis differentiation protein homolog C — A0A1B0GVM5 (reviewed: A0A1B0GVM5)

All UniProt accessions (1): A0A1B0GVM5

RefSeq proteins (1): NP_001345378* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVM5-F1	62.73	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): chrXq26, LCORL_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

42 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ETDC	SCYGR7	A0A286YF01	721
ETDC	FAM240C	A0A1B0GVR7	716
ETDC	SCYGR1	A0A286YEY9	596
ETDC	SMIM36	A0A1B0GVT2	543
ETDC	SMIM41	A0A2R8YCJ5	542
ETDC	EDDM13	A0A1B0GTR0	528
ETDC	C1orf232	A0A0U1RR37	527
ETDC	TMDD1	P0DPE3	511
ETDC	SMIM38	A0A286YFK9	507
ETDC	CCDC201	A0A1B0GTI1	447
ETDC	SMIM28	A0A1B0GU29	432
ETDC	C10orf143	A0A1B0GUT2	431
ETDC	SMIM31	A0A1B0GVY4	353
ETDC	BTBD8	Q5XKL5	247
ETDC	SPAAR	A0A1B0GVQ0	222

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

887 predictions. Top by Δscore:

Variant	Effect	Δscore
X:135291005:TTACC:T	donor_loss	1.0000
X:135291006:TA:T	donor_loss	1.0000
X:135291007:A:C	donor_loss	1.0000
X:135291008:C:CA	donor_loss	1.0000
X:135291131:AAACT:A	acceptor_gain	1.0000
X:135291132:AACT:A	acceptor_gain	1.0000
X:135291134:CT:C	acceptor_gain	1.0000
X:135291136:C:CC	acceptor_gain	1.0000
X:135292275:CCTCA:C	donor_loss	1.0000
X:135292276:CTCA:C	donor_loss	1.0000
X:135292277:TCA:T	donor_loss	1.0000
X:135292278:CACCT:C	donor_loss	1.0000
X:135292279:A:T	donor_loss	1.0000
X:135291041:A:AC	donor_gain	0.9900
X:135291133:ACTCT:A	acceptor_gain	0.9900
X:135291135:TC:T	acceptor_loss	0.9900
X:135291136:CTAAA:C	acceptor_loss	0.9900
X:135291137:T:A	acceptor_loss	0.9900
X:135291561:CAG:C	acceptor_gain	0.9900
X:135292280:CCT:C	donor_gain	0.9900
X:135292474:CTAG:C	acceptor_loss	0.9900
X:135294257:CA:C	acceptor_gain	0.9900
X:135294259:C:CC	acceptor_gain	0.9900
X:135291034:AT:A	donor_gain	0.9800
X:135291134:CTCT:C	acceptor_gain	0.9800
X:135292472:ACCT:A	acceptor_gain	0.9800
X:135292473:CCT:C	acceptor_gain	0.9800
X:135292746:AAG:A	donor_gain	0.9800
X:135292795:TTC:T	donor_gain	0.9800
X:135292799:CTGGT:C	donor_gain	0.9800

AlphaMissense

385 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:135309585:T:C	F36L	0.921
X:135309587:T:A	F36L	0.921
X:135309587:T:G	F36L	0.921
X:135309639:T:A	W54R	0.889
X:135309639:T:C	W54R	0.889
X:135309641:G:C	W54C	0.842
X:135309641:G:T	W54C	0.842
X:135309599:A:C	R40S	0.841
X:135309599:A:T	R40S	0.841
X:135309586:T:C	F36S	0.786
X:135309589:T:C	L37S	0.770
X:135309617:A:C	R46S	0.727
X:135309617:A:T	R46S	0.727
X:135309586:T:G	F36C	0.699
X:135309598:G:C	R40T	0.692
X:135309645:T:A	W56R	0.686
X:135309645:T:C	W56R	0.686
X:135309607:G:T	G43V	0.682
X:135309647:G:C	W56C	0.636
X:135309647:G:T	W56C	0.636
X:135309597:A:G	R40G	0.622
X:135309592:T:G	I38S	0.619
X:135309640:G:C	W54S	0.616
X:135309606:G:C	G43R	0.612
X:135309607:G:A	G43D	0.603
X:135309631:T:A	L51Q	0.601
X:135309604:T:C	L42P	0.587
X:135309598:G:T	R40I	0.574

dbSNP variants (sampled 300 via entrez): RS1005634347 (X:135309880 C>T), RS1014211029 (X:135309987 C>T), RS1019256684 (X:135307968 G>A), RS1019793487 (X:135308460 G>A,T), RS1025301266 (X:135308489 A>C), RS1034236136 (X:135309881 G>A,C), RS1036930157 (X:135307525 T>G), RS1040520005 (X:135309800 T>A), RS1040766422 (X:135309084 A>C), RS1041732097 (X:135308794 T>C), RS1041951731 (X:135308382 T>C), RS1048427842 (X:135307563 A>G), RS1050674084 (X:135309746 T>C), RS1051143292 (X:135308957 G>A,T), RS1057469922 (X:135308203 G>A,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.