MANSC1

Summary

MANSC1 (MANSC domain containing 1, HGNC:25505) is a protein-coding gene on chromosome 12p13.2, encoding MANSC domain-containing protein 1 (Q9H8J5).

Predicted to be located in membrane. Predicted to be active in Golgi apparatus.

Source: NCBI Gene 54682 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_018050

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25505
Approved symbol	MANSC1
Name	MANSC domain containing 1
Location	12p13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10298, LOH12CR3
Ensembl gene	ENSG00000111261
Ensembl biotype	protein_coding
Entrez	54682

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000396349, ENST00000535902, ENST00000543314, ENST00000545735, ENST00000938078, ENST00000938079

RefSeq mRNA: 2 — MANE Select: NM_018050 NM_001363613, NM_018050

CCDS: CCDS86284, CCDS8648

Canonical transcript exons

ENST00000535902 — 4 exons

Exon	Start	End
ENSE00001402887	12343092	12343414
ENSE00002281485	12326056	12330958
ENSE00002310172	12350078	12350242
ENSE00003433413	12338420	12338560

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 94.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9482 / max 266.3273, expressed in 1481 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
129721	10.4116	1451
129719	0.4164	219
129714	0.3267	163
129716	0.2125	69
129720	0.1609	63
129722	0.1474	61
129717	0.1349	37
129713	0.0868	29
129715	0.0422	21
129718	0.0089	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saliva-secreting gland	UBERON:0001044	94.30	gold quality
minor salivary gland	UBERON:0001830	94.04	gold quality
descending thoracic aorta	UBERON:0002345	93.78	gold quality
thoracic aorta	UBERON:0001515	93.33	gold quality
ascending aorta	UBERON:0001496	93.22	gold quality
esophagus mucosa	UBERON:0002469	91.99	gold quality
islet of Langerhans	UBERON:0000006	91.90	gold quality
rectum	UBERON:0001052	91.61	gold quality
blood	UBERON:0000178	90.88	gold quality
mucosa of transverse colon	UBERON:0004991	90.77	gold quality
smooth muscle tissue	UBERON:0001135	90.46	gold quality
pancreas	UBERON:0001264	89.59	gold quality
body of pancreas	UBERON:0001150	89.36	gold quality
esophagus	UBERON:0001043	89.19	gold quality
gall bladder	UBERON:0002110	89.17	gold quality
duodenum	UBERON:0002114	88.78	gold quality
right coronary artery	UBERON:0001625	88.61	gold quality
lower esophagus mucosa	UBERON:0035834	88.58	gold quality
endometrium	UBERON:0001295	88.44	gold quality
tonsil	UBERON:0002372	88.39	gold quality
transverse colon	UBERON:0001157	88.10	gold quality
placenta	UBERON:0001987	88.01	gold quality
body of stomach	UBERON:0001161	87.47	gold quality
left coronary artery	UBERON:0001626	87.05	gold quality
fallopian tube	UBERON:0003889	86.73	gold quality
mucosa of stomach	UBERON:0001199	86.64	gold quality
left uterine tube	UBERON:0001303	86.49	gold quality
prefrontal cortex	UBERON:0000451	86.48	gold quality
popliteal artery	UBERON:0002250	86.27	gold quality
tibial artery	UBERON:0007610	86.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.17
E-MTAB-10137	no	183.95
E-GEOD-99795	no	60.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting MANSC1, 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-3646	100.00	73.56	5283
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4803	99.98	71.99	3117
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-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-190B-3P	99.33	68.29	1382
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-1257	98.97	68.02	1133
HSA-MIR-320A-5P	98.88	66.75	1248
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-4421	97.99	64.89	701
HSA-MIR-1912-5P	97.94	67.98	832
HSA-MIR-5699-3P	97.81	65.00	861
HSA-MIR-4433A-3P	97.75	62.82	1435

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mansc1	ENSMUSG00000032718
rattus_norvegicus	Mansc1	ENSRNOG00000028526

Paralogs (2): C11orf24 (ENSG00000171067), MANSC4 (ENSG00000205693)

Protein

Protein identifiers

MANSC domain-containing protein 1 — Q9H8J5 (reviewed: Q9H8J5)

Alternative names: Loss of heterozygosity 12 chromosomal region 3 protein

All UniProt accessions (3): Q9H8J5, F5H3M3, F5H6G8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Widely expressed.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H8J5-1	1	yes
Q9H8J5-2	2

RefSeq proteins (2): NP_001350542, NP_060520* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011106	MANSC_N	Domain
IPR013980	MANSC_dom	Domain

Pfam: PF07502

UniProt features (20 total): glycosylation site 5, sequence variant 4, topological domain 2, region of interest 2, compositionally biased region 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H8J5-F1	57.01	0.19

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 (5): 72, 222, 251, 327, 352

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 135 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GCANCTGNY_MYOD_Q6, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, TCCAGAT_MIR5165P, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, MULLIGHAN_MLL_SIGNATURE_2_DN, NUYTTEN_EZH2_TARGETS_DN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, MULLIGHAN_MLL_SIGNATURE_1_DN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MCBRYAN_PUBERTAL_BREAST_4_5WK_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN

GO Biological Process (0):

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

GO Cellular Component (2): Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1243 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MANSC1	BCL2L14	Q9BZR8	535
MANSC1	RETREG3	Q86VR2	522
MANSC1	TMEM171	Q8WVE6	507
MANSC1	CREBL2	O60519	506
MANSC1	ENTREP1	Q15884	468
MANSC1	C3orf62	Q6ZUJ4	452
MANSC1	FAM234B	A2RU67	447
MANSC1	BORCS5	Q969J3	447
MANSC1	DUSP16	Q9BY84	412
MANSC1	GPR19	Q15760	407
MANSC1	PACC1	Q9H813	402
MANSC1	LRP6	O75581	399
MANSC1	PDCL2	Q8N4E4	395
MANSC1	APOLD1	Q96LR9	393
MANSC1	SUSD6	Q92537	391
MANSC1	GPR141	Q7Z602	391

IntAct

10 interactions, top by confidence:

A	B	Type	Score
VSTM1	MANSC1	psi-mi:“MI:0915”(physical association)	0.560
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
MANSC1	SMPD2	psi-mi:“MI:0914”(association)	0.530
GJA1	CDC123	psi-mi:“MI:0914”(association)	0.350
VSTM1	MANSC1	psi-mi:“MI:0915”(physical association)	0.000
MANSC1		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (174): APOE (Affinity Capture-MS), TTYH2 (Affinity Capture-MS), TP53I11 (Affinity Capture-MS), TOM1L1 (Affinity Capture-MS), CLCN7 (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), TRAM2 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS), SLC35F5 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), SNX3 (Affinity Capture-MS), RELT (Affinity Capture-MS), NFRKB (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Y7Y5, A1KXC4, A6QLF8, J3KML8, O00592, O35188, O55145, O57604, P06484, P07141, P13838, P14220, P15702, P16150, P18827, P20934, P26260, P34740, P47951, P59647, P78423, P97808, Q08DZ5, Q1ECS6, Q28270, Q28645, Q29RT9, Q3MIW9, Q3TNW5, Q52S86, Q58Y74, Q5RAF8, Q62170, Q64314, Q6MG22, Q6P9X9, Q6UWI2, Q6UXF1, Q86YL7, Q8BHE4

Diamond homologs: Q95KG7, Q9CR33, Q9H8J5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

776 predictions. Top by Δscore:

Variant	Effect	Δscore
12:12338558:CCC:C	acceptor_gain	1.0000
12:12338559:CCC:C	acceptor_gain	1.0000
12:12338561:C:CC	acceptor_gain	1.0000
12:12343411:CTCT:C	acceptor_gain	1.0000
12:12343413:CT:C	acceptor_gain	1.0000
12:12343415:C:CC	acceptor_gain	1.0000
12:12338414:CATTA:C	donor_loss	0.9900
12:12338415:ATTAC:A	donor_loss	0.9900
12:12338416:TTAC:T	donor_loss	0.9900
12:12338417:TA:T	donor_loss	0.9900
12:12338418:A:AT	donor_loss	0.9900
12:12338557:TCCC:T	acceptor_gain	0.9900
12:12338558:CCCC:C	acceptor_gain	0.9900
12:12338559:CC:C	acceptor_gain	0.9900
12:12338560:CC:C	acceptor_gain	0.9900
12:12338560:CCTGC:C	acceptor_loss	0.9900
12:12338561:CT:C	acceptor_loss	0.9900
12:12338562:T:C	acceptor_loss	0.9900
12:12343413:CTCT:C	acceptor_loss	0.9900
12:12343414:TC:T	acceptor_loss	0.9900
12:12343415:C:CG	acceptor_loss	0.9900
12:12350072:CTTTA:C	donor_loss	0.9900
12:12350073:TTTA:T	donor_loss	0.9900
12:12350074:TTAC:T	donor_loss	0.9900
12:12350075:TAC:T	donor_loss	0.9900
12:12350076:A:T	donor_loss	0.9900
12:12326273:A:C	acceptor_gain	0.9800
12:12338442:AAGT:A	donor_gain	0.9800
12:12338556:GTCCC:G	acceptor_gain	0.9800
12:12343087:TTTA:T	donor_loss	0.9800

AlphaMissense

2780 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:12338491:A:C	F98C	0.996
12:12338486:A:G	C100R	0.995
12:12338547:A:C	C79W	0.995
12:12338548:C:G	C79S	0.995
12:12338548:C:T	C79Y	0.995
12:12338549:A:G	C79R	0.995
12:12338549:A:T	C79S	0.995
12:12338491:A:G	F98S	0.994
12:12338499:G:C	C95W	0.994
12:12338436:A:C	S116R	0.993
12:12338436:A:T	S116R	0.993
12:12338438:T:G	S116R	0.993
12:12338468:A:G	C106R	0.993
12:12338485:C:G	C100S	0.993
12:12338486:A:T	C100S	0.993
12:12338500:C:G	C95S	0.993
12:12338501:A:T	C95S	0.993
12:12338532:G:C	F84L	0.993
12:12338532:G:T	F84L	0.993
12:12338534:A:G	F84L	0.993
12:12338467:C:G	C106S	0.992
12:12338468:A:T	C106S	0.992
12:12338484:A:C	C100W	0.992
12:12338490:A:C	F98L	0.992
12:12338490:A:T	F98L	0.992
12:12338492:A:G	F98L	0.992
12:12338501:A:G	C95R	0.992
12:12338548:C:A	C79F	0.992
12:12343126:G:C	C63W	0.992
12:12330055:A:G	L423S	0.990

dbSNP variants (sampled 300 via entrez): RS1000373104 (12:12325981 A>G), RS1000893754 (12:12345868 A>C), RS1000971734 (12:12336183 A>T), RS1001010820 (12:12351588 C>T), RS1001371614 (12:12339505 C>T), RS1001439190 (12:12340938 G>A), RS1001505635 (12:12342026 C>T), RS1001599770 (12:12337096 C>A,T), RS1001722328 (12:12351757 C>T), RS1001737187 (12:12348775 T>C), RS1001753043 (12:12342594 T>G), RS1001799538 (12:12339256 ATTTTT>A,ATTTT,ATTTTTT), RS1001881230 (12:12345219 T>C), RS1001893943 (12:12343838 G>A,C,T), RS1001911434 (12:12340555 C>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

3 associations (top):

Study	Trait	p-value
GCST003055_1	Tandem gait	1.000000e-06
GCST006585_989	Blood protein levels	2.000000e-19
GCST012490_553	Femur bone mineral density x serum urate levels interaction	6.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Benzo(a)pyrene	decreases expression, decreases methylation	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
sodium arsenite	affects expression	2
cobaltous chloride	decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Smoke	decreases expression	2
Tretinoin	increases expression	2
FR900359	decreases phosphorylation	1
urushiol	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
o,p’-DDT	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
potassium chromate(VI)	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression, affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
abrine	decreases expression	1
licochalcone B	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
Resveratrol	decreases expression	1

Clinical trials (associated diseases)

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