MAB21L3

Summary

MAB21L3 (mab-21 like 3, HGNC:26787) is a protein-coding gene on chromosome 1p13.1, encoding Protein mab-21-like 3 (Q8N8X9).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_152367

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26787
Approved symbol	MAB21L3
Name	mab-21 like 3
Location	1p13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38716, D5
Ensembl gene	ENSG00000173212
Ensembl biotype	protein_coding
Entrez	126868

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000369500, ENST00000464946, ENST00000683341, ENST00000684484, ENST00000864984, ENST00000864985, ENST00000864986

RefSeq mRNA: 1 — MANE Select: NM_152367 NM_152367

CCDS: CCDS886

Canonical transcript exons

ENST00000369500 — 8 exons

Exon	Start	End
ENSE00001196500	116128145	116128339
ENSE00001260466	116120932	116121072
ENSE00001260486	116133132	116138149
ENSE00001450187	116112407	116112663
ENSE00001450188	116111629	116111810
ENSE00003552010	116124066	116124357
ENSE00003635772	116127466	116127644
ENSE00003920529	116111399	116111510

Expression profiles

Bgee: expression breadth broad, 92 present calls, max score 84.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0815 / max 14.0316, expressed in 35 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4806	0.0243	11
4809	0.0216	11
4807	0.0192	8
4808	0.0164	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
esophagus squamous epithelium	UBERON:0006920	84.61	gold quality
esophagus mucosa	UBERON:0002469	72.96	gold quality
oral cavity	UBERON:0000167	68.49	gold quality
lower esophagus mucosa	UBERON:0035834	67.26	gold quality
rectum	UBERON:0001052	65.58	gold quality
buccal mucosa cell	CL:0002336	62.09	gold quality
mucosa of transverse colon	UBERON:0004991	61.54	gold quality
skin of abdomen	UBERON:0001416	60.81	gold quality
zone of skin	UBERON:0000014	60.69	gold quality
skin of leg	UBERON:0001511	60.29	gold quality
vagina	UBERON:0000996	60.01	gold quality
palpebral conjunctiva	UBERON:0001812	57.84	silver quality
skin of hip	UBERON:0001554	57.74	gold quality
amniotic fluid	UBERON:0000173	56.60	silver quality
adult mammalian kidney	UBERON:0000082	56.22	gold quality
bone marrow cell	CL:0002092	53.69	gold quality
tonsil	UBERON:0002372	53.23	gold quality
esophagus	UBERON:0001043	52.81	gold quality
pharyngeal mucosa	UBERON:0000355	52.11	silver quality
kidney	UBERON:0002113	51.65	gold quality
urinary bladder	UBERON:0001255	51.40	gold quality
liver	UBERON:0002107	50.71	gold quality
transverse colon	UBERON:0001157	50.64	gold quality
cortex of kidney	UBERON:0001225	50.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	50.26	gold quality
colonic epithelium	UBERON:0000397	50.09	gold quality
right lobe of liver	UBERON:0001114	49.94	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	49.63	gold quality
minor salivary gland	UBERON:0001830	49.00	gold quality
blood	UBERON:0000178	48.90	gold quality

Single-cell (SCXA)

Detected in 41 experiment(s), a significant marker in 27.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	12931.96
E-GEOD-150728	yes	10515.50
E-MTAB-8205	yes	5752.71
E-GEOD-124263	yes	5749.16
E-MTAB-6678	yes	5512.91
E-HCAD-56	yes	5139.47
E-GEOD-134144	yes	4500.55
E-HCAD-31	yes	3975.19
E-CURD-79	yes	3626.44
E-MTAB-8894	yes	3310.57
E-MTAB-8381	yes	2790.95
E-CURD-88	yes	2413.12
E-MTAB-10018	yes	2325.32
E-GEOD-130473	yes	2289.16
E-MTAB-10283	yes	1929.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting MAB21L3, 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-9-5P	100.00	72.28	2361
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mab21l3	ENSDARG00000076013
mus_musculus	Mab21l3	ENSMUSG00000044313
rattus_norvegicus	Mab21l3	ENSRNOG00000016044

Paralogs (9): ITPRIP (ENSG00000148841), CGAS (ENSG00000164430), MAB21L4 (ENSG00000172478), MB21D2 (ENSG00000180611), MAB21L1 (ENSG00000180660), TMEM102 (ENSG00000181284), MAB21L2 (ENSG00000181541), ITPRIPL1 (ENSG00000198885), ITPRIPL2 (ENSG00000205730)

Protein

Protein identifiers

Protein mab-21-like 3 — Q8N8X9 (reviewed: Q8N8X9)

All UniProt accessions (1): Q8N8X9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the mab-21 family.

RefSeq proteins (1): NP_689580* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024810	MAB21L/cGLR	Family
IPR046903	Mab-21-like_nuc_Trfase	Domain
IPR046906	Mab-21_HhH/H2TH-like	Domain

Pfam: PF03281, PF20266

UniProt features (2 total): chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N8X9-F1	90.49	0.76

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

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

418 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAB21L3	MB21D2	Q8IYB1	602
MAB21L3	GMNC	A6NCL1	493
MAB21L3	LARP6	Q9BRS8	488
MAB21L3	AKAIN1	P0CW23	480
MAB21L3	MCIDAS	D6RGH6	458
MAB21L3	SLC22A15	Q8IZD6	438
MAB21L3	FAM184B	Q9ULE4	433
MAB21L3	RFX4	Q33E94	433
MAB21L3	TMEM109	Q9BVC6	384
MAB21L3	ROGDI	Q9GZN7	384
MAB21L3	GAREM2	Q75VX8	372
MAB21L3	CCDC71	Q8IV32	366
MAB21L3	ITPRIPL2	Q3MIP1	365
MAB21L3	TENT5D	Q8NEK8	346
MAB21L3	TENT5B	Q96A09	344

IntAct

99 interactions, top by confidence:

A	B	Type	Score
STAC3	MAB21L3	psi-mi:“MI:0915”(physical association)	0.780
MAB21L3	STAC3	psi-mi:“MI:0915”(physical association)	0.780
AGGF1	MAB21L3	psi-mi:“MI:0915”(physical association)	0.740
LZTS2	MAB21L3	psi-mi:“MI:0915”(physical association)	0.720
MAB21L3	LZTS2	psi-mi:“MI:0915”(physical association)	0.720
MAB21L3	EMD	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	MAB21L3	psi-mi:“MI:0915”(physical association)	0.560
MAB21L3	AGGF1	psi-mi:“MI:0915”(physical association)	0.560
PHC2	MAB21L3	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	MAB21L3	psi-mi:“MI:0915”(physical association)	0.560
MED4	MAB21L3	psi-mi:“MI:0915”(physical association)	0.560
EMD	MAB21L3	psi-mi:“MI:0915”(physical association)	0.560
MAB21L3	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
AGGF1	MAB21L3	psi-mi:“MI:0915”(physical association)	0.560
MAB21L3	PHC2	psi-mi:“MI:0915”(physical association)	0.560
MAB21L3	MED4	psi-mi:“MI:0915”(physical association)	0.560
LENG1	MAB21L3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (33): MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), FAM9B (Two-hybrid), STAC3 (Two-hybrid), KRTAP10-9 (Two-hybrid), AHCYL1 (Affinity Capture-MS), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid), MAB21L3 (Two-hybrid)

ESM2 similar proteins: A2ASA8, A2CI98, A2CJ06, A4IG61, A4IIW0, A7MB64, A8E4S7, O15482, P59025, P79621, Q08AI8, Q0IES7, Q0IES8, Q0V9X7, Q29H55, Q29H56, Q3TNL8, Q3UJB3, Q3UPR7, Q567X9, Q569B5, Q5MYT7, Q5QGT7, Q5TW90, Q640Z9, Q66H52, Q6DCQ5, Q6GNM3, Q6GPH6, Q6GQ81, Q6GQD9, Q6NYB4, Q7QHX4, Q80VA5, Q80ZF2, Q80ZI2, Q8BPP1, Q8C8C1, Q8CEZ4, Q8CI17

Diamond homologs: A0A2B4RP11, A8E4S7, Q29H55, Q6GNM3, Q8CI17, Q8N8X9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

786 predictions. Top by Δscore:

Variant	Effect	Δscore
1:116128337:CAGGT:C	donor_loss	1.0000
1:116128339:GGT:G	donor_loss	1.0000
1:116128340:GT:G	donor_loss	1.0000
1:116128341:T:G	donor_loss	1.0000
1:116130591:A:T	donor_gain	1.0000
1:116133126:CCACA:C	acceptor_loss	1.0000
1:116133127:CACA:C	acceptor_loss	1.0000
1:116133130:A:AG	acceptor_gain	1.0000
1:116133130:A:T	acceptor_loss	1.0000
1:116133131:G:GA	acceptor_gain	1.0000
1:116133131:GA:G	acceptor_gain	1.0000
1:116133131:GAC:G	acceptor_gain	1.0000
1:116133131:GACT:G	acceptor_gain	1.0000
1:116112394:A:AG	acceptor_gain	0.9900
1:116121070:AAGG:A	donor_loss	0.9900
1:116121071:AGGT:A	donor_loss	0.9900
1:116121073:G:GA	donor_loss	0.9900
1:116121074:T:G	donor_loss	0.9900
1:116124057:T:A	acceptor_gain	0.9900
1:116124063:TA:T	acceptor_loss	0.9900
1:116124064:A:AG	acceptor_gain	0.9900
1:116124064:A:C	acceptor_loss	0.9900
1:116124065:G:GG	acceptor_gain	0.9900
1:116124317:G:GT	donor_gain	0.9900
1:116124354:TCAGG:T	donor_loss	0.9900
1:116124355:CAGG:C	donor_loss	0.9900
1:116124357:GGT:G	donor_loss	0.9900
1:116127446:ATTT:A	acceptor_gain	0.9900
1:116127449:T:TA	acceptor_gain	0.9900
1:116128143:A:AG	acceptor_gain	0.9900

AlphaMissense

2374 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:116128184:T:A	W234R	0.990
1:116128184:T:C	W234R	0.990
1:116121029:T:C	F49S	0.987
1:116121028:T:C	F49L	0.984
1:116121030:T:A	F49L	0.984
1:116121030:T:G	F49L	0.984
1:116124252:T:A	W126R	0.984
1:116124252:T:C	W126R	0.984
1:116124292:C:A	P139H	0.984
1:116128295:T:A	W271R	0.983
1:116128295:T:C	W271R	0.983
1:116128186:G:C	W234C	0.979
1:116128186:G:T	W234C	0.979
1:116133220:T:C	L315P	0.979
1:116128250:C:A	R256S	0.978
1:116128335:T:C	L284P	0.978
1:116124097:T:A	V74D	0.977
1:116133177:T:A	W301R	0.976
1:116133177:T:C	W301R	0.976
1:116133179:G:C	W301C	0.976
1:116133179:G:T	W301C	0.976
1:116127612:T:A	W210R	0.974
1:116127612:T:C	W210R	0.974
1:116124292:C:G	P139R	0.972
1:116124231:T:C	F119L	0.971
1:116124233:T:A	F119L	0.971
1:116124233:T:G	F119L	0.971
1:116127591:T:A	W203R	0.971
1:116127591:T:C	W203R	0.971
1:116121027:A:C	R48S	0.966

dbSNP variants (sampled 300 via entrez): RS1000013150 (1:116110875 A>T), RS1000109836 (1:116132409 G>A,T), RS1000240759 (1:116117285 C>T), RS1000281006 (1:116126090 G>A), RS1000355182 (1:116129205 G>A,C), RS1000365554 (1:116119868 T>C), RS1000426282 (1:116123082 T>C), RS1000552443 (1:116128777 C>T), RS1000554211 (1:116111116 G>A), RS1000588522 (1:116113730 T>A), RS1000621667 (1:116137711 T>C), RS1000893062 (1:116124622 A>G), RS1000977977 (1:116129256 G>T), RS1001008930 (1:116135180 G>A,T), RS1001013481 (1:116136776 G>A,C)

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

3 associations (top):

Study	Trait	p-value
GCST005330_3	Coffee consumption	8.000000e-07
GCST006976_129	Macular thickness	2.000000e-08
GCST011743_30	HDL cholesterol levels in HIV infection	6.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006782	cups of coffee per day measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases expression, increases mutagenesis	6
Cyclosporine	decreases expression, increases expression	4
sodium arsenite	increases expression	2
Cadmium	increases abundance, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
OTX015	decreases expression	1
mivebresib	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
avobenzone	decreases expression	1
tebuconazole	decreases expression	1
2-palmitoylglycerol	increases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Leflunomide	increases expression	1
Cisplatin	decreases expression	1
Diuron	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A3Z5	SEES3-1V human MAB21L3, clone1	Embryonic stem cell	Male
CVCL_A3Z6	SEES3-1V human MAB21L3, clone2	Embryonic stem cell	Male
CVCL_A3Z7	SEES3-1V human MAB21L3, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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