TRIM49B

Summary

TRIM49B (tripartite motif containing 49B, HGNC:42955) is a protein-coding gene on chromosome 11p11.12, encoding Putative tripartite motif-containing protein 49B (A6NDI0).

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm.

Source: NCBI Gene 283116 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 93 total
• MANE Select transcript: NM_001206626

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:42955
Approved symbol	TRIM49B
Name	tripartite motif containing 49B
Location	11p11.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182053
Ensembl biotype	protein_coding
Entrez	283116

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000332682, ENST00000622138

RefSeq mRNA: 1 — MANE Select: NM_001206626 NM_001206626

CCDS: CCDS55762

Canonical transcript exons

ENST00000332682 — 7 exons

Exon	Start	End
ENSE00001605883	49031596	49032010
ENSE00001640047	49036301	49036398
ENSE00001701119	49035095	49035117
ENSE00001755377	49032276	49032371
ENSE00002164084	49028823	49028975
ENSE00002283778	49034146	49034376
ENSE00002319494	49037478	49038155

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 81.57.

Top tissues by expression

126 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	81.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.95	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	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
muscle tissue	UBERON:0002385	34.46	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
monocyte	CL:0000576	32.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	32.12	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
smooth muscle tissue	UBERON:0001135	30.88	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	28.55	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.91	gold quality
superior frontal gyrus	UBERON:0002661	26.79	gold quality
blood	UBERON:0000178	26.77	gold quality
fundus of stomach	UBERON:0001160	26.49	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	25.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.10

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)

Protein

Protein identifiers

Putative tripartite motif-containing protein 49B — A6NDI0 (reviewed: A6NDI0)

Alternative names: RING finger protein 18B

All UniProt accessions (1): A6NDI0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the TRIM/RBCC family.

RefSeq proteins (1): NP_001193555* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF00643, PF15227

UniProt features (9 total): binding site 4, zinc finger region 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NDI0-F1	85.54	0.60

Functional residue map

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

Ligand- & substrate-binding residues (4): 93; 96; 115; 121

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, GAO_LARGE_INTESTINE_ADULT_CJ_IMMUNE_CELLS, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, chr11p11, GSE43700_UNTREATED_VS_IL10_TREATED_PBMC_DN

GO Biological Process (2): regulation of gene expression (GO:0010468), innate immune response (GO:0045087)

GO Molecular Function (4): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	1
regulation of macromolecule biosynthetic process	1
immune response	1
defense response to symbiont	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

256 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM49B	F5GXT2	F5GXT2	541
TRIM49B	NAALAD2	Q9Y3Q0	540
TRIM49B	OR4A47	Q6IF82	529
TRIM49B	FAM86C1P	Q9NVL1	521
TRIM49B	SPANXN5	Q5MJ07	507
TRIM49B	FOLH1	Q04609	446
TRIM49B	WASHC2A	Q641Q2	418
TRIM49B	SLC52A1	Q9NWF4	358
TRIM49B	OR2AG2	A6NM03	349
TRIM49B	PTPMT1	Q8WUK0	348
TRIM49B	HNRNPCL1	O60812	348
TRIM49B	GRM5	P41594	345
TRIM49B	PPFIA2	O75334	340
TRIM49B	RASA4	O43374	280
TRIM49B	ACBD7	Q8N6N7	278

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT33, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, C9J1S8, I1YAP6, K7N6K2, P0CI25, P0CI26, P15533, Q0PF16, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q2YEM8, Q2YEM9, Q2YEN0, Q2YEN2, Q3ZEE5, Q587N6, Q587N7, Q5BN31, Q5C8T6, Q5C8T8, Q5C8U1, Q5C8U3, Q5C8U4, Q5D7H7, Q5D7H8, Q5D7I0, Q5D7I1, Q5D7I2, Q5D7I3, Q5D7I5, Q5D7I6, Q5D7I9, Q5D7J0

Diamond homologs: A0A3B3IT33, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, B0BLU1, C9J1S8, I1YAP6, O00478, O00481, O15344, O75677, O75678, O75679, O76064, P0CI25, P0CI26, P18892, P19474, P62603, P86448, P86449, Q13410, Q2HJ46, Q3C1V9, Q3TL54, Q4KLN8, Q5EBN2, Q5PQN2, Q5R4I2, Q5R996, Q61510, Q62556, Q6INS5, Q6MFY8, Q6UX41, Q6UXE8, Q6ZWI9, Q7T308

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM49B	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

669 predictions. Top by Δscore:

Variant	Effect	Δscore
11:49032007:CCAGG:C	donor_loss	1.0000
11:49032008:CAGG:C	donor_loss	1.0000
11:49032010:GGT:G	donor_loss	1.0000
11:49032011:GTAA:G	donor_loss	1.0000
11:49035090:TTCAG:T	acceptor_loss	1.0000
11:49035091:TCAGG:T	acceptor_loss	1.0000
11:49035092:CAGG:C	acceptor_loss	1.0000
11:49035093:AGG:A	acceptor_loss	1.0000
11:49036299:A:AG	acceptor_gain	1.0000
11:49036299:A:AT	acceptor_loss	1.0000
11:49036299:AG:A	acceptor_gain	1.0000
11:49036300:G:GG	acceptor_gain	1.0000
11:49036300:GG:G	acceptor_gain	1.0000
11:49036300:GGA:G	acceptor_gain	1.0000
11:49036300:GGAGT:G	acceptor_gain	1.0000
11:49036394:CCGAG:C	donor_gain	1.0000
11:49036395:CGAG:C	donor_gain	1.0000
11:49036396:GAG:G	donor_gain	1.0000
11:49036396:GAGG:G	donor_gain	1.0000
11:49036397:AG:A	donor_gain	1.0000
11:49036397:AGGTA:A	donor_loss	1.0000
11:49036398:GG:G	donor_gain	1.0000
11:49036399:G:GG	donor_gain	1.0000
11:49036400:T:G	donor_loss	1.0000
11:49037473:T:TA	acceptor_gain	1.0000
11:49037473:TGCAG:T	acceptor_loss	1.0000
11:49037474:GCA:G	acceptor_loss	1.0000
11:49037475:CA:C	acceptor_loss	1.0000
11:49037476:A:AC	acceptor_loss	1.0000
11:49037476:A:AG	acceptor_gain	1.0000

AlphaMissense

3053 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:49037882:T:C	F422L	0.963
11:49037884:T:A	F422L	0.963
11:49037884:T:G	F422L	0.963
11:49036392:T:C	F285L	0.958
11:49036394:C:A	F285L	0.958
11:49036394:C:G	F285L	0.958
11:49037645:T:A	W343R	0.952
11:49037645:T:C	W343R	0.952
11:49037675:T:A	W353R	0.947
11:49037675:T:C	W353R	0.947
11:49037852:T:C	F412L	0.937
11:49037854:C:A	F412L	0.937
11:49037854:C:G	F412L	0.937
11:49031906:T:C	F103L	0.927
11:49031908:C:A	F103L	0.927
11:49031908:C:G	F103L	0.927
11:49037647:G:C	W343C	0.925
11:49037647:G:T	W343C	0.925
11:49032366:T:A	W168R	0.922
11:49032366:T:C	W168R	0.922
11:49037685:G:A	G356D	0.919
11:49037750:T:C	F378L	0.917
11:49037752:T:A	F378L	0.917
11:49037752:T:G	F378L	0.917
11:49037883:T:C	F422S	0.915
11:49037879:A:C	S421R	0.912
11:49037881:C:A	S421R	0.912
11:49037881:C:G	S421R	0.912
11:49037624:T:C	F336L	0.902
11:49037626:C:A	F336L	0.902

dbSNP variants (sampled 300 via entrez): RS1000044926 (11:49029270 A>G), RS1000137948 (11:49029510 A>G), RS1000991112 (11:49033726 T>G), RS1001045481 (11:49027956 C>T), RS1001143325 (11:49028253 G>A), RS1001404043 (11:49033904 GTTTT>G,GTTTTT), RS1001794666 (11:49038527 C>T), RS1002832039 (11:49036805 G>A,C,T), RS1002994524 (11:49031409 T>C), RS1003252585 (11:49037224 A>G), RS1003850470 (11:49032609 C>T), RS1004054710 (11:49027076 C>T), RS1004239764 (11:49035453 G>A), RS1004787343 (11:49037274 C>G), RS1004857396 (11:49031422 G>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

6 associations (top):

Study	Trait	p-value
GCST005580_16	Intraocular pressure	2.000000e-14
GCST005580_25	Intraocular pressure	4.000000e-14
GCST007928_77	Medication use (diuretics)	8.000000e-11
GCST007930_14	Medication use (agents acting on the renin-angiotensin system)	2.000000e-09
GCST008058_47	Estimated glomerular filtration rate	3.000000e-10
GCST008064_34	Chronic kidney disease	8.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0009928	Diuretic use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
TAK-243	increases sumoylation	1

Clinical trials (associated diseases)

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