MANBAL

Summary

MANBAL (mannosidase beta like, HGNC:15799) is a protein-coding gene on chromosome 20q11.23, encoding Protein MANBAL (Q9NQG1).

Predicted to be located in membrane.

Source: NCBI Gene 63905 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_001003897

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15799
Approved symbol	MANBAL
Name	mannosidase beta like
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	dJ1141E15.2
Ensembl gene	ENSG00000101363
Ensembl biotype	protein_coding
Entrez	63905

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 28 protein_coding

ENST00000373605, ENST00000373606, ENST00000397150, ENST00000397151, ENST00000397152, ENST00000910092, ENST00000910093, ENST00000910094, ENST00000910095, ENST00000910096, ENST00000910097, ENST00000910098, ENST00000910099, ENST00000910100, ENST00000910101, ENST00000910102, ENST00000911876, ENST00000911879, ENST00000911882, ENST00000911884, ENST00000911886, ENST00000911888, ENST00000911889, ENST00000959855, ENST00000959856, ENST00000959857, ENST00000959858, ENST00000959859

RefSeq mRNA: 14 — MANE Select: NM_001003897 NM_001003897, NM_001369742, NM_001369743, NM_001376529, NM_001376530, NM_001376531, NM_001376532, NM_001376533, NM_001387335, NM_001387336, NM_001387337, NM_001387338, NM_001387339, NM_022077

CCDS: CCDS13293, CCDS93036

Canonical transcript exons

ENST00000373606 — 3 exons

Exon	Start	End
ENSE00001461012	37316308	37317260
ENSE00001461016	37301208	37301413
ENSE00001527522	37289655	37289686

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 96.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5317 / max 62.5547, expressed in 1798 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184483	10.6346	1783
184484	1.8971	660

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ascending aorta	UBERON:0001496	96.65	gold quality
thoracic aorta	UBERON:0001515	96.65	gold quality
body of uterus	UBERON:0009853	96.65	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.64	gold quality
lower esophagus	UBERON:0013473	96.61	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.61	gold quality
mucosa of stomach	UBERON:0001199	96.57	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.54	gold quality
aorta	UBERON:0000947	96.46	gold quality
left uterine tube	UBERON:0001303	96.38	gold quality
popliteal artery	UBERON:0002250	96.37	gold quality
descending thoracic aorta	UBERON:0002345	96.37	gold quality
smooth muscle tissue	UBERON:0001135	96.36	gold quality
tibial artery	UBERON:0007610	96.36	gold quality
islet of Langerhans	UBERON:0000006	96.22	gold quality
right coronary artery	UBERON:0001625	96.04	gold quality
prefrontal cortex	UBERON:0000451	95.97	gold quality
left coronary artery	UBERON:0001626	95.67	gold quality
coronary artery	UBERON:0001621	95.52	gold quality
lower esophagus mucosa	UBERON:0035834	95.52	gold quality
decidua	UBERON:0002450	95.48	gold quality
pancreatic ductal cell	CL:0002079	95.36	gold quality
ectocervix	UBERON:0012249	95.36	gold quality
prostate gland	UBERON:0002367	95.25	gold quality
left adrenal gland cortex	UBERON:0035825	95.23	gold quality
left adrenal gland	UBERON:0001234	95.18	gold quality
right uterine tube	UBERON:0001302	95.17	gold quality
esophagus	UBERON:0001043	95.15	gold quality
endocervix	UBERON:0000458	95.09	gold quality
right adrenal gland	UBERON:0001233	95.08	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	no	2.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting MANBAL, 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-223-3P	99.99	70.14	1140
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-3940-5P	99.14	65.26	493
HSA-MIR-4507	99.14	65.27	515
HSA-MIR-6804-3P	98.72	64.82	852

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	manbal	ENSDARG00000059853
mus_musculus	Manbal	ENSMUSG00000063019
rattus_norvegicus	Manbal	ENSRNOG00000031453
drosophila_melanogaster	CG4101	FBGN0025558

Protein

Protein identifiers

Protein MANBAL — Q9NQG1 (reviewed: Q9NQG1)

All UniProt accessions (2): Q9NQG1, A2A2E0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the UPF0239 family.

RefSeq proteins (14): NP_001003897, NP_001356671, NP_001356672, NP_001363458, NP_001363459, NP_001363460, NP_001363461, NP_001363462, NP_001374264, NP_001374265, NP_001374266, NP_001374267, NP_001374268, NP_071360 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009621	UPF0239	Family

Pfam: PF06783

UniProt features (5 total): compositionally biased region 2, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQG1-F1	65.15	0.20

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 57 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GTGCCTT_MIR506, chr20q11, STK33_NOMO_UP, STK33_UP, CEBPZ_TARGET_GENES, CIITA_TARGET_GENES, DIDO1_TARGET_GENES, FEV_TARGET_GENES, FOXE1_TARGET_GENES, KAT2A_TARGET_GENES, KMT2D_TARGET_GENES, ZNF282_TARGET_GENES, ZNF561_TARGET_GENES, ZNF7_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

322 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MANBAL	STPG4	Q8N801	506
MANBAL	ZNF574	Q6ZN55	490
MANBAL	DPY19L1	Q2PZI1	490
MANBAL	POMT2	Q9UKY4	434
MANBAL	ERICH5	Q6P6B1	428
MANBAL	ZNF112	Q9UJU3	403
MANBAL	KCMF1	Q9P0J7	403
MANBAL	LRRC57	Q8N9N7	402
MANBAL	ZCCHC9	Q8N567	371
MANBAL	PIGV	Q9NUD9	365
MANBAL	DBNDD2	Q9BQY9	361
MANBAL	ALG14	Q96F25	345
MANBAL	POFUT1	Q9H488	343
MANBAL	ZBTB34	Q8NCN2	326
MANBAL	ZBTB5	O15062	325

IntAct

66 interactions, top by confidence:

A	B	Type	Score
MANBAL	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
VTI1B	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
CMTM2	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
OTOP2	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
PIGF	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
MANBAL	VTI1B	psi-mi:“MI:0915”(physical association)	0.560
MANBAL	KLK5	psi-mi:“MI:0915”(physical association)	0.560
TMEM203	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
GPR151	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
NIPAL3	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
MANBAL	MARCHF5	psi-mi:“MI:0915”(physical association)	0.560
MALL	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
TMEM115	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
VKORC1	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
MPDU1	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
SCRG1	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
TMEM262	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
MANBAL	SLC39A9	psi-mi:“MI:0915”(physical association)	0.560
STX3	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
TMBIM6	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
ATP13A1	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
MANBAL	S100A6	psi-mi:“MI:0914”(association)	0.530
MANBAL	CACNA1A	psi-mi:“MI:0915”(physical association)	0.370
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
MANBAL	CMTM2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): MANBAL (Two-hybrid), GOPC (Affinity Capture-MS), S100A6 (Affinity Capture-MS), MANBAL (Two-hybrid), MANBAL (Two-hybrid), MANBAL (Two-hybrid), ATP13A1 (Two-hybrid), TMEM115 (Two-hybrid), MPDU1 (Two-hybrid), TMBIM6 (Two-hybrid), CMTM2 (Two-hybrid), MALL (Two-hybrid), PIGF (Two-hybrid), SCRG1 (Two-hybrid), STX3 (Two-hybrid)

ESM2 similar proteins: A2VDA9, A4IG59, A5WVU9, B0BN56, B0WN94, B2B9D9, B2B9E1, B3DHH5, C5DIL2, F4HVZ5, O22912, P52870, P52871, P82925, P92204, Q09JL7, Q0IFA9, Q22472, Q28DN4, Q42841, Q53HL2, Q553P6, Q56JY4, Q5EB66, Q5I030, Q5RBS5, Q5RDR6, Q5U4A3, Q5ZKA6, Q60ZR7, Q61733, Q629K1, Q68EU0, Q6AXW0, Q6AZH0, Q6CJX5, Q7PH91, Q8J2P4, Q8SY72, Q8VY39

Diamond homologs: Q9D8X0, Q9NQG1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

933 predictions. Top by Δscore:

Variant	Effect	Δscore
20:37289685:AGG:A	donor_loss	1.0000
20:37289686:GGTG:G	donor_loss	1.0000
20:37301205:AAGTT:A	acceptor_gain	1.0000
20:37301206:A:G	acceptor_gain	1.0000
20:37289682:GGGAG:G	donor_gain	0.9900
20:37289683:GGAG:G	donor_gain	0.9900
20:37289683:GGAGG:G	donor_gain	0.9900
20:37289684:GAGG:G	donor_gain	0.9900
20:37289687:G:GG	donor_gain	0.9900
20:37289688:T:G	donor_loss	0.9900
20:37301292:C:CA	acceptor_gain	0.9900
20:37289684:GAG:G	donor_gain	0.9800
20:37302384:G:GA	donor_gain	0.9800
20:37316421:G:GT	donor_gain	0.9800
20:37301293:G:A	acceptor_gain	0.9700
20:37302383:T:TA	donor_gain	0.9700
20:37301205:A:AG	acceptor_gain	0.9600
20:37301206:AGTT:A	acceptor_gain	0.9600
20:37301207:GTTG:G	acceptor_gain	0.9600
20:37316302:TCACA:T	acceptor_loss	0.9600
20:37316303:CACA:C	acceptor_loss	0.9600
20:37316305:CAG:C	acceptor_loss	0.9600
20:37316305:CAGG:C	acceptor_gain	0.9600
20:37316306:A:AT	acceptor_loss	0.9600
20:37316306:AGGA:A	acceptor_gain	0.9600
20:37316307:GGAG:G	acceptor_gain	0.9600
20:37316414:AGAAG:A	donor_gain	0.9600
20:37316413:TAG:T	donor_gain	0.9500
20:37290329:GGCTT:G	donor_gain	0.9400
20:37301202:TACAA:T	acceptor_gain	0.9400

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000155069 (20:37297003 A>G), RS1000258340 (20:37309017 T>G), RS1000265006 (20:37291627 C>A), RS1000317801 (20:37291318 T>A), RS1000393157 (20:37289056 A>G), RS1000420044 (20:37315914 TC>T), RS1000665074 (20:37299642 A>T), RS1000763941 (20:37298457 C>G), RS1000821402 (20:37294135 T>C), RS1000913306 (20:37290349 T>C), RS1001218770 (20:37298125 A>G), RS1001561107 (20:37316869 A>G), RS1001658575 (20:37296351 C>T), RS1001690884 (20:37293388 T>C), RS1001692215 (20:37307906 G>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

1 associations (top):

Study	Trait	p-value
GCST90000025_649	Appendicular lean mass	2.000000e-38

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
Temozolomide	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants, Occupational	affects expression	1
Arsenic	increases expression, increases abundance	1
Benzene	increases expression	1
Doxorubicin	affects expression	1
Silicon Dioxide	decreases methylation	1
Smoke	decreases expression	1
Valproic Acid	affects expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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