TEX47

Summary

TEX47 (testis expressed 47, HGNC:22402) is a protein-coding gene on chromosome 7q21.13, encoding Testis-expressed protein 47 (Q8TBZ9).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_152706

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22402
Approved symbol	TEX47
Name	testis expressed 47
Location	7q21.13
Locus type	gene with protein product
Status	Approved
Aliases	MGC26647, DYBLUF
Ensembl gene	ENSG00000164645
Ensembl biotype	protein_coding
Entrez	219557

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000297203

RefSeq mRNA: 1 — MANE Select: NM_152706 NM_152706

CCDS: CCDS34678

Canonical transcript exons

ENST00000297203 — 2 exons

Exon	Start	End
ENSE00001086285	88794106	88795046
ENSE00001206913	88795640	88795737

Expression profiles

Bgee: expression breadth broad, 24 present calls, max score 92.45.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0322 / max 27.0651, expressed in 3 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84752	0.0206	3
84753	0.0071	3
84754	0.0044	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	92.45	gold quality
left testis	UBERON:0004533	85.30	gold quality
testis	UBERON:0000473	83.08	gold quality
right testis	UBERON:0004534	82.21	gold quality
adult organism	UBERON:0007023	75.69	gold quality
buccal mucosa cell	CL:0002336	75.64	silver quality
ileal mucosa	UBERON:0000331	61.51	silver quality
tibialis anterior	UBERON:0001385	59.16	silver quality
tendon of biceps brachii	UBERON:0008188	57.85	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.93	gold quality
pancreatic ductal cell	CL:0002079	54.38	silver quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
upper leg skin	UBERON:0004262	53.99	silver quality
epithelial cell of pancreas	CL:0000083	53.97	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
deltoid	UBERON:0001476	53.42	gold quality
myocardium	UBERON:0002349	50.50	gold quality
quadriceps femoris	UBERON:0001377	50.09	gold quality
medial globus pallidus	UBERON:0002477	49.86	gold quality
vastus lateralis	UBERON:0001379	49.07	gold quality
globus pallidus	UBERON:0001875	47.69	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
left lobe of thyroid gland	UBERON:0001120	44.03	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
amniotic fluid	UBERON:0000173	43.00	gold quality
thyroid gland	UBERON:0002046	42.95	gold quality
skeletal muscle tissue	UBERON:0001134	42.59	gold quality
secondary oocyte	CL:0000655	42.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tex47	ENSDARG00000053520
mus_musculus	Tex47	ENSMUSG00000040514
rattus_norvegicus	Tex47	ENSRNOG00000008594

Protein

Protein identifiers

Testis-expressed protein 47 — Q8TBZ9 (reviewed: Q8TBZ9)

All UniProt accessions (1): Q8TBZ9

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Testis-specific.

RefSeq proteins (1): NP_689919* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR055308	TEX47-like	Family

Pfam: PF24787

UniProt features (6 total): sequence variant 5, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBZ9-F1	80.47	0.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 32 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, AREB6_01, MYB_Q3, MYB_Q5_01, PAX2_02, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE11864_UNTREATED_VS_CSF1_IN_MAC_UP, GSE10273_LOW_IL7_VS_HIGH_IL7_AND_IRF4_IN_IRF4_8_NULL_PRE_BCELL_UP, GSE13306_RA_VS_UNTREATED_TCONV_DN, GSE14026_TH1_VS_TH17_DN, BPTF_TARGET_GENES, GSE17974_CTRL_VS_ACT_IL4_AND_ANTI_IL12_0.5H_CD4_TCELL_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_0.5H_ACT_CD4_TCELL_UP, GSE20366_CD103_POS_VS_NEG_TREG_KLRG1NEG_UP, GSE20366_CD103_POS_VS_CD103_KLRG1_DP_TREG_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEX47	ZNF804B	A4D1E1	643
TEX47	CFAP44	Q96MT7	525
TEX47	STEAP4	Q687X5	513
TEX47	ADAM22	Q9P0K1	512
TEX47	ZC3HAV1L	Q96H79	479
TEX47	STEAP2	Q8NFT2	476
TEX47	SMPX	Q9UHP9	447
TEX47	PTGR3	Q8N4Q0	418
TEX47	CFAP69	A5D8W1	396
TEX47	RUNDC3B	Q96NL0	396
TEX47	MYH7B	A7E2Y1	375
TEX47	MED9	Q9NWA0	372
TEX47	SPRR2G	Q9BYE4	370
TEX47	ARHGEF16	Q5VV41	348
TEX47	RIMS3	Q9UJD0	348

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MEOX2	TEX47	psi-mi:“MI:0915”(physical association)	0.560
TEX47	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): C7orf62 (Two-hybrid)

ESM2 similar proteins: A0JMA8, A0JPP5, A1A535, A1A5P5, F1S5L4, O70481, P86790, P86791, P97564, Q008S8, Q0VA04, Q0VD30, Q14D04, Q16K67, Q19317, Q28HU2, Q2KI89, Q3KQ18, Q45GW3, Q4R6I5, Q4S4I5, Q5GJ77, Q5PQS3, Q5R629, Q5R6E9, Q5RD58, Q5SWX8, Q5U245, Q5XIR8, Q5ZKK3, Q5ZLN2, Q61586, Q6NU25, Q6PA97, Q7Z3E5, Q803R2, Q86VS3, Q8C1Y8, Q8CDK3, Q8IWV7

Diamond homologs: A0JPP5, Q8TBZ9, Q9D5W8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

140 predictions. Top by Δscore:

Variant	Effect	Δscore
7:88795044:CTT:C	acceptor_gain	0.9900
7:88795047:C:CC	acceptor_gain	0.9900
7:88794931:C:CT	acceptor_gain	0.9800
7:88795042:TTCTT:T	acceptor_gain	0.9800
7:88795636:TTACC:T	donor_loss	0.9800
7:88795638:A:AC	donor_gain	0.9800
7:88795638:A:C	donor_loss	0.9800
7:88795639:C:A	donor_loss	0.9800
7:88795639:C:CC	donor_gain	0.9800
7:88795045:TT:T	acceptor_gain	0.9700
7:88795051:C:CT	acceptor_gain	0.9700
7:88794938:GACA:G	donor_gain	0.9600
7:88795052:A:T	acceptor_gain	0.9600
7:88795638:AC:A	donor_gain	0.9600
7:88795639:CC:C	donor_gain	0.9600
7:88794871:T:C	acceptor_gain	0.9500
7:88795639:CCA:C	donor_gain	0.9500
7:88795639:CCAT:C	donor_gain	0.9500
7:88795639:CCATT:C	donor_gain	0.9400
7:88795045:TTC:T	acceptor_loss	0.9300
7:88795046:TC:T	acceptor_loss	0.9300
7:88795047:C:CG	acceptor_loss	0.9300
7:88795048:T:G	acceptor_loss	0.9300
7:88794932:G:T	acceptor_gain	0.9000
7:88795637:TA:T	donor_gain	0.9000
7:88795039:TATTT:T	acceptor_gain	0.8800
7:88794917:TTCTG:T	acceptor_gain	0.8600
7:88795040:ATTTC:A	acceptor_loss	0.8600
7:88795042:TTC:T	acceptor_loss	0.8600
7:88795043:TC:T	acceptor_loss	0.8600

AlphaMissense

1676 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:88794507:A:G	W146R	0.988
7:88794507:A:T	W146R	0.988
7:88794783:C:G	A54P	0.974
7:88794204:A:G	W247R	0.968
7:88794204:A:T	W247R	0.968
7:88794505:C:A	W146C	0.963
7:88794505:C:G	W146C	0.963
7:88794683:C:T	G87E	0.962
7:88794677:A:G	L89P	0.958
7:88794674:A:G	L90P	0.956
7:88794639:A:G	S102P	0.952
7:88794653:A:G	L97P	0.949
7:88794684:C:G	G87R	0.948
7:88794684:C:T	G87R	0.948
7:88794640:C:A	E101D	0.941
7:88794640:C:G	E101D	0.941
7:88794644:A:G	L100P	0.939
7:88794686:G:A	T86I	0.937
7:88794514:A:C	F143L	0.936
7:88794514:A:T	F143L	0.936
7:88794516:A:G	F143L	0.936
7:88794641:T:A	E101V	0.935
7:88794256:A:C	F229L	0.934
7:88794256:A:T	F229L	0.934
7:88794258:A:G	F229L	0.934
7:88794796:C:A	R49S	0.933
7:88794796:C:G	R49S	0.933
7:88794202:C:A	W247C	0.930
7:88794202:C:G	W247C	0.930
7:88794788:A:G	L52P	0.930

dbSNP variants (sampled 300 via entrez): RS1000098216 (7:88794124 T>C), RS1000102440 (7:88796415 T>G), RS1001614532 (7:88796713 C>A,G), RS1001643379 (7:88793711 C>A,T), RS1002021943 (7:88795221 C>A), RS1002351408 (7:88795444 C>T), RS1003867189 (7:88797131 T>A), RS1006291790 (7:88794271 C>T), RS1006777249 (7:88794014 A>G), RS1008438943 (7:88797345 C>A,T), RS1010318542 (7:88796176 C>A,T), RS1010329986 (7:88796444 C>T), RS1010672546 (7:88797164 A>G), RS1010703669 (7:88796864 TA>T), RS1010808520 (7:88797448 T>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

6 associations (top):

Study	Trait	p-value
GCST001474_17	Hypothyroidism	7.000000e-06
GCST006999_1	Logical memory (immediate recall) in mild cognitive impairment	5.000000e-06
GCST009391_147	Metabolite levels	1.000000e-06
GCST009391_1552	Metabolite levels	1.000000e-06
GCST009391_537	Metabolite levels	5.000000e-06
GCST009391_615	Metabolite levels	2.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0010476	dimethylglycine measurement
EFO:0009776	ornithine measurement
EFO:0010528	quinolinic acid measurement
EFO:0009793	isoleucine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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