BTBD17

Summary

BTBD17 (BTB domain containing 17, HGNC:33758) is a protein-coding gene on chromosome 17q25.1, encoding BTB/POZ domain-containing protein 17 (A6NE02).

Predicted to be involved in negative regulation of viral genome replication and response to virus. Predicted to be located in cytoplasm and plasma membrane.

Source: NCBI Gene 388419 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 137 total
• MANE Select transcript: NM_001080466

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33758
Approved symbol	BTBD17
Name	BTB domain containing 17
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	LGALS3BPL, BTBD17A, TANGO10A
Ensembl gene	ENSG00000204347
Ensembl biotype	protein_coding
Entrez	388419

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000375366

RefSeq mRNA: 1 — MANE Select: NM_001080466 NM_001080466

CCDS: CCDS32719

Canonical transcript exons

ENST00000375366 — 3 exons

Exon	Start	End
ENSE00001466834	74356416	74357731
ENSE00001466835	74359969	74360245
ENSE00001466836	74361735	74361868

Expression profiles

Bgee: expression breadth broad, 64 present calls, max score 81.61.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0448 / max 45.8825, expressed in 207 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167932	1.0448	207

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.61	gold quality
ventricular zone	UBERON:0003053	81.56	gold quality
ganglionic eminence	UBERON:0004023	81.43	gold quality
amygdala	UBERON:0001876	66.74	gold quality
hypothalamus	UBERON:0001898	66.49	gold quality
right hemisphere of cerebellum	UBERON:0014890	66.42	gold quality
putamen	UBERON:0001874	65.90	gold quality
granulocyte	CL:0000094	63.81	gold quality
cerebellar cortex	UBERON:0002129	63.77	gold quality
nucleus accumbens	UBERON:0001882	63.66	gold quality
cerebellar hemisphere	UBERON:0002245	63.54	gold quality
prefrontal cortex	UBERON:0000451	63.30	gold quality
cerebellum	UBERON:0002037	62.93	gold quality
caudate nucleus	UBERON:0001873	62.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	61.15	gold quality
anterior cingulate cortex	UBERON:0009835	61.06	gold quality
right frontal lobe	UBERON:0002810	60.07	gold quality
neocortex	UBERON:0001950	59.68	gold quality
substantia nigra	UBERON:0002038	59.67	gold quality
frontal cortex	UBERON:0001870	59.64	gold quality
Ammon’s horn	UBERON:0001954	59.63	gold quality
temporal lobe	UBERON:0001871	59.40	gold quality
brain	UBERON:0000955	58.20	gold quality
cerebral cortex	UBERON:0000956	58.14	gold quality
forebrain	UBERON:0001890	57.72	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	57.65	gold quality
midbrain	UBERON:0001891	57.41	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	56.58	gold quality
postcentral gyrus	UBERON:0002581	54.84	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	54.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting BTBD17, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-224-5P	98.33	70.12	1256
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-6777-3P	95.35	64.30	699

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	btbd17a	ENSDARG00000099321
danio_rerio	btbd17b	ENSDARG00000102472
mus_musculus	Btbd17	ENSMUSG00000000202
rattus_norvegicus	Btbd17	ENSRNOG00000003109
drosophila_melanogaster	Tango10	FBGN0030330

Paralogs (2): ENC1 (ENSG00000171617), KLHL25 (ENSG00000183655)

Protein

Protein identifiers

BTB/POZ domain-containing protein 17 — A6NE02 (reviewed: A6NE02)

Alternative names: Galectin-3-binding protein-like

All UniProt accessions (1): A6NE02

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

RefSeq proteins (1): NP_001073935* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR051481	BTB-POZ/Galectin-3-binding	Family
IPR056184	TRAF_BTBD17	Domain

Pfam: PF00651, PF07707, PF23651

UniProt features (7 total): glycosylation site 3, domain 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NE02-F1	85.20	0.63

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (3): 61, 100, 195

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_VIRAL_GENOME_REPLICATION, GOBP_VIRAL_LIFE_CYCLE, GOBP_REGULATION_OF_VIRAL_GENOME_REPLICATION, GOBP_NEGATIVE_REGULATION_OF_VIRAL_GENOME_REPLICATION, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_RESPONSE_TO_VIRUS, MIKKELSEN_MCV6_LCP_WITH_H3K27ME3, MIKKELSEN_MEF_LCP_WITH_H3K27ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3_AND_H3K27ME3, MIKKELSEN_NPC_LCP_WITH_H3K4ME3, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, CAHOY_ASTROCYTIC, MIR506_5P

GO Biological Process (2): response to virus (GO:0009615), negative regulation of viral genome replication (GO:0045071)

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

GO Cellular Component (3): extracellular region (GO:0005576), plasma membrane (GO:0005886), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
response to other organism	1
viral genome replication	1
regulation of viral genome replication	1
negative regulation of viral process	1
binding	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

466 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTBD17	KIF19	Q2TAC6	596
BTBD17	C19orf81	C9J6K1	541
BTBD17	ANO8	Q9HCE9	520
BTBD17	OR4N5	Q8IXE1	511
BTBD17	TTYH2	Q9BSA4	479
BTBD17	FEV	Q99581	466
BTBD17	TTC13	Q8NBP0	454
BTBD17	R3HDML	Q9H3Y0	423
BTBD17	CD300LD	Q6UXZ3	419
BTBD17	FBRSL1	Q9HCM7	410
BTBD17	GPR142	Q7Z601	400
BTBD17	RRP1B	Q14684	398
BTBD17	DNAI2	Q9GZS0	396
BTBD17	RUBCNL	Q9H714	396
BTBD17	GTF2F1	P35269	393

IntAct

2 interactions, top by confidence:

A	B	Type	Score
BTBD17	PRDM16	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (5): PRDM16 (Affinity Capture-MS), BTBD17 (Positive Genetic), BTBD17 (Affinity Capture-MS), BTBD17 (Affinity Capture-MS), BTBD17 (Affinity Capture-MS)

ESM2 similar proteins: A6NE02, A8MY62, C9JR72, D3Z7H8, D3ZU57, O09017, O15197, O19179, O95382, P0C0K6, P10588, P43136, P55203, Q02846, Q08DG4, Q15628, Q2KHV9, Q3U0S6, Q3UH93, Q5BK61, Q5U651, Q5W7P8, Q5ZMM1, Q6ZNJ1, Q6ZQA0, Q6ZVZ8, Q80ZD5, Q86WK7, Q8BH02, Q8BH83, Q8C828, Q8CIG9, Q8IUL8, Q8IYS2, Q8JGM4, Q8K2J9, Q8N239, Q8VHA6, Q91X21, Q96CD0

Diamond homologs: A6NE02, A7E3W2, Q66KD0, Q6GLJ1, Q9DB72, A1L0T3, A1L1V4, A1L4H1, A5PJQ2, A6H737, B4F6N6, B5DF27, B8A4W9, E1C3U7, F1QQC3, F1RD85, F7J220, G3V801, M9NDE3, O08762, O43866, O70513, P16264, P21757, P21758, P30203, P30204, P30205, P56730, P58022, P58215, P70117, P85521, Q05585, Q07797, Q08380, Q08B63, Q14DK5, Q24JV9, Q2VL90

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	69
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

472 predictions. Top by Δscore:

Variant	Effect	Δscore
17:74357729:TACC:T	acceptor_loss	1.0000
17:74357732:C:CA	acceptor_loss	1.0000
17:74357733:T:G	acceptor_loss	1.0000
17:74359964:CCCA:C	donor_loss	1.0000
17:74359965:CCACC:C	donor_loss	1.0000
17:74359966:CAC:C	donor_loss	1.0000
17:74359967:AC:A	donor_loss	1.0000
17:74359968:C:A	donor_loss	1.0000
17:74357727:GGTAC:G	acceptor_gain	0.9900
17:74357729:TAC:T	acceptor_gain	0.9900
17:74357730:AC:A	acceptor_gain	0.9900
17:74357731:CC:C	acceptor_gain	0.9900
17:74357732:C:CC	acceptor_gain	0.9900
17:74359963:CCCCA:C	donor_loss	0.9900
17:74359999:T:TA	donor_gain	0.9900
17:74360039:G:C	donor_gain	0.9900
17:74360241:CTGTG:C	acceptor_gain	0.9900
17:74360242:TGTG:T	acceptor_gain	0.9900
17:74360243:GTGCT:G	acceptor_loss	0.9900
17:74360244:TG:T	acceptor_gain	0.9900
17:74360245:GCT:G	acceptor_loss	0.9900
17:74360246:C:CC	acceptor_gain	0.9900
17:74360250:A:T	acceptor_gain	0.9900
17:74360252:C:CT	acceptor_gain	0.9900
17:74360253:A:T	acceptor_gain	0.9900
17:74357728:GTAC:G	acceptor_gain	0.9800
17:74359895:C:A	donor_gain	0.9800
17:74361731:TCACC:T	donor_loss	0.9800
17:74361732:CACCT:C	donor_loss	0.9800
17:74361733:ACC:A	donor_loss	0.9800

AlphaMissense

3046 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:74357028:A:G	W356R	1.000
17:74357028:A:T	W356R	1.000
17:74356697:A:T	V466D	0.999
17:74357015:A:G	F360S	0.999
17:74357414:T:A	E227V	0.999
17:74356709:A:G	L462P	0.998
17:74357026:C:A	W356C	0.998
17:74357026:C:G	W356C	0.998
17:74357027:C:G	W356S	0.998
17:74357078:A:G	F339S	0.998
17:74357154:G:T	R314S	0.998
17:74357218:G:C	F292L	0.998
17:74357218:G:T	F292L	0.998
17:74357220:A:G	F292L	0.998
17:74357325:A:C	Y257D	0.998
17:74357330:A:T	I255K	0.998
17:74357510:T:A	N195I	0.998
17:74356691:G:T	P468H	0.997
17:74356693:C:A	K467N	0.997
17:74356693:C:G	K467N	0.997
17:74356715:A:G	L460P	0.997
17:74356772:A:G	F441S	0.997
17:74356853:A:G	L414P	0.997
17:74357013:A:G	S361P	0.997
17:74357090:C:G	R335P	0.997
17:74357114:A:T	I327N	0.997
17:74357130:C:G	G322R	0.997
17:74357219:A:G	F292S	0.997
17:74356686:A:C	Y470D	0.996
17:74357014:G:C	F360L	0.996

dbSNP variants (sampled 300 via entrez): RS1000344942 (17:74358373 G>A), RS1001394712 (17:74357712 G>A,C), RS1001659129 (17:74362955 A>C), RS1001711558 (17:74362525 C>T), RS1001992647 (17:74364042 G>C), RS1002344105 (17:74358744 G>A), RS1002597979 (17:74364549 T>C), RS1002856916 (17:74361579 C>T), RS1002994519 (17:74364035 C>T), RS1004421151 (17:74358586 G>C), RS1004852214 (17:74356936 C>A,G,T), RS1005517505 (17:74362442 T>C), RS1005584617 (17:74362843 A>G), RS1005920575 (17:74361601 C>A,G,T), RS1006264189 (17:74361314 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)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases methylation	5
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, decreases expression, affects cotreatment	2
propionaldehyde	increases expression	1
trichostatin A	decreases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
LDN 193189	increases expression, affects cotreatment	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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