BTBD19

Summary

BTBD19 (BTB domain containing 19, HGNC:27145) is a protein-coding gene on chromosome 1p34.1, encoding BTB/POZ domain-containing protein 19 (C9JJ37).

At a glance

• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_001136537

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27145
Approved symbol	BTBD19
Name	BTB domain containing 19
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000222009
Ensembl biotype	protein_coding
Entrez	149478

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 retained_intron, 3 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000409335, ENST00000439563, ENST00000450269, ENST00000464114, ENST00000475105, ENST00000482715, ENST00000485668, ENST00000489976, ENST00000495433, ENST00000718238

RefSeq mRNA: 5 — MANE Select: NM_001136537 NM_001136537, NM_001394561, NM_001394562, NM_001394563, NM_001394564

CCDS: CCDS90937

Canonical transcript exons

ENST00000450269 — 8 exons

Exon	Start	End
ENSE00001579078	44810213	44810426
ENSE00001777323	44808523	44808906
ENSE00003500433	44812996	44813064
ENSE00003546225	44813638	44815585
ENSE00003559042	44813374	44813499
ENSE00003595622	44810554	44810607
ENSE00003612402	44812039	44812098
ENSE00003648310	44813138	44813269

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 91.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.1325 / max 69.1914, expressed in 1552 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2651	5.4667	1309
2655	0.5673	355
2652	0.5011	291
2648	0.1533	51
2654	0.1408	64
2649	0.1223	56
2653	0.1151	46
2650	0.0658	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left uterine tube	UBERON:0001303	91.75	gold quality
adenohypophysis	UBERON:0002196	91.48	gold quality
right adrenal gland cortex	UBERON:0035827	91.44	gold quality
right adrenal gland	UBERON:0001233	90.74	gold quality
body of uterus	UBERON:0009853	90.09	gold quality
pituitary gland	UBERON:0000007	90.01	gold quality
left adrenal gland	UBERON:0001234	89.64	gold quality
left adrenal gland cortex	UBERON:0035825	89.37	gold quality
endocervix	UBERON:0000458	89.16	gold quality
right ovary	UBERON:0002118	89.14	gold quality
left ovary	UBERON:0002119	89.07	gold quality
stromal cell of endometrium	CL:0002255	88.85	gold quality
ascending aorta	UBERON:0001496	88.72	gold quality
thoracic aorta	UBERON:0001515	88.61	gold quality
adrenal cortex	UBERON:0001235	88.39	gold quality
ectocervix	UBERON:0012249	87.87	gold quality
descending thoracic aorta	UBERON:0002345	87.32	gold quality
mucosa of stomach	UBERON:0001199	87.21	gold quality
adrenal gland	UBERON:0002369	86.70	gold quality
right coronary artery	UBERON:0001625	86.55	gold quality
sural nerve	UBERON:0015488	86.55	gold quality
right lobe of thyroid gland	UBERON:0001119	86.48	gold quality
omental fat pad	UBERON:0010414	86.44	gold quality
peritoneum	UBERON:0002358	86.32	gold quality
left coronary artery	UBERON:0001626	85.73	gold quality
left lobe of thyroid gland	UBERON:0001120	85.58	gold quality
aorta	UBERON:0000947	85.04	gold quality
thyroid gland	UBERON:0002046	84.98	gold quality
coronary artery	UBERON:0001621	84.50	gold quality
right uterine tube	UBERON:0001302	84.40	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.97
E-MTAB-6075	no	342.72
E-MTAB-6379	no	3.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting BTBD19, 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-3923	99.52	69.21	446
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-299-3P	97.73	66.67	773
HSA-MIR-6802-3P	97.29	65.42	613
HSA-MIR-411-5P	97.11	66.82	601
HSA-MIR-920	95.97	63.95	811
HSA-MIR-6726-5P	95.97	63.72	841
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-6771-5P	86.50	65.30	81

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Btbd19	ENSMUSG00000073771
rattus_norvegicus	Btbd19	ENSRNOG00000042163
drosophila_melanogaster	axed	FBGN0035708
caenorhabditis_elegans		WBGENE00009820
caenorhabditis_elegans		WBGENE00018946

Protein

Protein identifiers

BTB/POZ domain-containing protein 19 — C9JJ37 (reviewed: C9JJ37)

All UniProt accessions (2): A0A0A0MSF5, C9JJ37

Isoforms (2)

UniProt ID	Names	Canonical?
C9JJ37-1	1	yes
C9JJ37-2	2

RefSeq proteins (5): NP_001130009, NP_001381490, NP_001381491, NP_001381492, NP_001381493 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR042846	BTBD19	Family

Pfam: PF00651, PF07707

UniProt features (4 total): domain 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9JJ37-F1	91.90	0.84

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 89 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, chr1p34, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, PECE_MAMMARY_STEM_CELL_DN, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, GSE14415_NATURAL_TREG_VS_TCONV_UP, DACH1_TARGET_GENES, E2F2_TARGET_GENES, HES2_TARGET_GENES, HOXB6_TARGET_GENES, KAT5_TARGET_GENES, MAFG_TARGET_GENES, NFE2L1_TARGET_GENES, TERT_TARGET_GENES

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

756 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTBD19	TFPT	P0C1Z6	527
BTBD19	RNASEH1	O60930	509
BTBD19	MED26	O95402	424
BTBD19	RBMY1J	Q15415	397
BTBD19	ICE1	Q9Y2F5	397
BTBD19	KCTD4	Q8WVF5	389
BTBD19	INTS4	Q96HW7	378
BTBD19	MYADM	Q96S97	377
BTBD19	SNRPN	P14648	372
BTBD19	A0A0G2JH32	A0A0G2JH32	370
BTBD19	TEX13C	A0A0J9YWL9	370
BTBD19	ZFP41	Q8N8Y5	370
BTBD19	CNTLN	Q9NXG0	358
BTBD19	SSRP1	Q08945	350
BTBD19	ZBTB44	Q8NCP5	346

IntAct

0 interactions, top by confidence:

BioGRID (1): BTBD19 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A4FV98, A6QPA3, C9J798, C9JJ37, D3YWP0, D3ZVU9, D4A2K4, O43374, O70277, O75382, O95294, P0C6S8, P22674, P57775, Q08DS0, Q0GA42, Q3U410, Q3UGX3, Q4G0W2, Q4V892, Q5SUV1, Q5XIU1, Q6GQU6, Q6IA17, Q6PF15, Q6TDP3, Q6TDP4, Q7TNM2, Q7Z4K8, Q86WI3, Q8CIW5, Q8IZ69, Q8K430, Q8N531, Q8N8L6, Q8NE01, Q8WXI3, Q969K4

Diamond homologs: A0A072VIM5, A0A0K0PU92, A2CIR7, B9DHT4, C9JJ37, E7BQV0, G3LSH3, G8GTN7, Q05823, Q0JJ01, Q2HW56, Q2QXZ2, Q2RAQ5, Q5D0W8, Q5ICL9, Q5XIU1, Q75HA6, Q8L746, Q96BM1, Q96DX5, Q99LJ2, Q9FDY4, Q9M1I7, Q9SZI3, Q9ZVC2, S4VGD0, A0JMG1, A6QPA3, P0DMR5, Q6IQ16, Q6P1D7, Q6P882, Q6YCH1, Q717B2, Q9LYL9, A1L4W5, A6QL63, B0WWP2, B7U179, D2HEW7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1160 predictions. Top by Δscore:

Variant	Effect	Δscore
1:44812037:A:AG	acceptor_gain	1.0000
1:44812038:G:GG	acceptor_gain	1.0000
1:44812038:GCT:G	acceptor_gain	1.0000
1:44812038:GCTGT:G	acceptor_gain	1.0000
1:44812987:T:TA	acceptor_gain	1.0000
1:44812991:CGCA:C	acceptor_loss	1.0000
1:44812992:GCAG:G	acceptor_loss	1.0000
1:44812993:CAGG:C	acceptor_loss	1.0000
1:44812994:A:AC	acceptor_loss	1.0000
1:44812994:A:AG	acceptor_gain	1.0000
1:44812994:AGGT:A	acceptor_gain	1.0000
1:44812994:AGGTG:A	acceptor_gain	1.0000
1:44812995:G:GC	acceptor_loss	1.0000
1:44812995:G:GG	acceptor_gain	1.0000
1:44812995:GGT:G	acceptor_gain	1.0000
1:44812995:GGTG:G	acceptor_gain	1.0000
1:44812995:GGTGG:G	acceptor_gain	1.0000
1:44813251:C:G	donor_gain	1.0000
1:44813265:GCGCG:G	donor_gain	1.0000
1:44813267:GCG:G	donor_gain	1.0000
1:44813268:CGGTG:C	donor_loss	1.0000
1:44813270:G:GG	donor_gain	1.0000
1:44813271:T:A	donor_loss	1.0000
1:44813467:G:GT	donor_gain	1.0000
1:44813485:G:GT	donor_gain	1.0000
1:44813486:A:T	donor_gain	1.0000
1:44813505:G:GT	donor_gain	1.0000
1:44813537:GGGG:G	donor_gain	1.0000
1:44813538:GGGG:G	donor_gain	1.0000
1:44808574:GACCA:G	donor_gain	0.9900

AlphaMissense

1831 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:44810388:T:C	F88L	0.997
1:44810390:C:A	F88L	0.997
1:44810390:C:G	F88L	0.997
1:44812044:C:G	C120W	0.995
1:44810257:C:A	A44D	0.993
1:44810575:G:C	A108P	0.993
1:44810224:T:C	F33S	0.992
1:44812043:G:A	C120Y	0.991
1:44812042:T:C	C120R	0.989
1:44810272:T:C	L49S	0.988
1:44810389:T:C	F88S	0.988
1:44810576:C:A	A108D	0.988
1:44813429:G:C	R224T	0.987
1:44813252:T:A	W200R	0.986
1:44813252:T:C	W200R	0.986
1:44813254:G:C	W200C	0.985
1:44813254:G:T	W200C	0.985
1:44813659:T:A	W255R	0.985
1:44813659:T:C	W255R	0.985
1:44810283:T:C	C53R	0.983
1:44813429:G:T	R224I	0.983
1:44812051:T:C	F123L	0.982
1:44812053:T:A	F123L	0.982
1:44812053:T:G	F123L	0.982
1:44813000:C:A	A140D	0.982
1:44810567:T:C	L105P	0.981
1:44812094:T:C	L137P	0.981
1:44813456:T:C	L233P	0.981
1:44812999:G:C	A140P	0.980
1:44813661:G:C	W255C	0.979

dbSNP variants (sampled 300 via entrez): RS1000002002 (1:44812545 A>G), RS1000505513 (1:44814020 A>G), RS1000890819 (1:44812299 T>C,G), RS1001246064 (1:44808234 AT>A), RS1001294697 (1:44807241 C>G), RS1001303540 (1:44814463 A>T), RS1001842731 (1:44808454 G>GC), RS1002554981 (1:44814336 C>T), RS1002634583 (1:44813033 G>A,C), RS1002736346 (1:44815725 C>T), RS1002966543 (1:44808518 C>G), RS1003302036 (1:44809921 G>C), RS1003354351 (1:44809688 G>T), RS1003900227 (1:44812223 G>A,C,T), RS1003994850 (1:44809396 G>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)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	increases methylation, increases expression	2
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	increases expression	1
Nickel	increases expression	1
Ozone	affects expression, increases abundance	1
Tobacco Smoke Pollution	increases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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