FAM181B

Summary

FAM181B (family with sequence similarity 181 member B, HGNC:28512) is a protein-coding gene on chromosome 11q14.1, encoding Protein FAM181B (A6NEQ2).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_175885

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28512
Approved symbol	FAM181B
Name	family with sequence similarity 181 member B
Location	11q14.1
Locus type	gene with protein product
Status	Approved
Aliases	LOC220382, MGC33846
Ensembl gene	ENSG00000182103
Ensembl biotype	protein_coding
Entrez	220382

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000329203

RefSeq mRNA: 1 — MANE Select: NM_175885 NM_175885

CCDS: CCDS31648

Canonical transcript exons

ENST00000329203 — 1 exons

Exon	Start	End
ENSE00001313338	82729940	82733864

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 89.78.

FANTOM5 (CAGE): breadth broad, TPM avg 2.9205 / max 133.5539, expressed in 326 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121567	2.1616	243
121566	0.3508	183
121568	0.2360	136
121565	0.1196	70
121564	0.0526	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	89.78	gold quality
medial globus pallidus	UBERON:0002477	85.01	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.85	gold quality
spinal cord	UBERON:0002240	84.35	gold quality
amygdala	UBERON:0001876	83.92	gold quality
substantia nigra	UBERON:0002038	83.07	gold quality
globus pallidus	UBERON:0001875	81.95	gold quality
midbrain	UBERON:0001891	81.76	gold quality
temporal lobe	UBERON:0001871	81.62	gold quality
Ammon’s horn	UBERON:0001954	81.58	gold quality
hypothalamus	UBERON:0001898	80.99	gold quality
entorhinal cortex	UBERON:0002728	80.88	gold quality
cortical plate	UBERON:0005343	80.62	gold quality
anterior cingulate cortex	UBERON:0009835	80.61	gold quality
putamen	UBERON:0001874	80.58	gold quality
caudate nucleus	UBERON:0001873	80.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.08	gold quality
right frontal lobe	UBERON:0002810	79.74	gold quality
nucleus accumbens	UBERON:0001882	79.08	gold quality
ganglionic eminence	UBERON:0004023	78.99	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.61	gold quality
postcentral gyrus	UBERON:0002581	78.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.42	gold quality
cerebral cortex	UBERON:0000956	78.33	gold quality
ventricular zone	UBERON:0003053	78.30	gold quality
cardiac muscle of right atrium	UBERON:0003379	78.26	gold quality
left ventricle myocardium	UBERON:0006566	77.66	gold quality
neocortex	UBERON:0001950	77.39	gold quality
superior frontal gyrus	UBERON:0002661	77.37	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-8060	no	247.69
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting FAM181B, 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-8068	99.98	73.85	2376
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-12116	97.94	68.91	595
HSA-MIR-6793-3P	97.66	65.78	1084
HSA-MIR-7703	97.64	67.00	965
HSA-MIR-6875-5P	96.87	65.49	958

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam181b	ENSMUSG00000051515
rattus_norvegicus	Fam181b	ENSRNOG00000069065

Paralogs (1): FAM181A (ENSG00000140067)

Protein

Protein identifiers

Protein FAM181B — A6NEQ2 (reviewed: A6NEQ2)

All UniProt accessions (1): A6NEQ2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM181 family.

RefSeq proteins (1): NP_787081* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029359	FAM181	Family
IPR053819	TEADIR3_omega_loop	Conserved_site

Pfam: PF15238

UniProt features (9 total): region of interest 2, sequence variant 2, helix 2, chain 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6SEO	X-RAY DIFFRACTION	2.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NEQ2-F1	55.68	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 54 (showing top): GGGNRMNNYCAT_UNKNOWN, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GATA1_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, RATTENBACHER_BOUND_BY_CELF1, LIM_MAMMARY_LUMINAL_MATURE_DN, HAND1_TARGET_GENES, ZNF528_TARGET_GENES, ZNF618_TARGET_GENES, ZNF664_TARGET_GENES, MIR8068, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

314 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM181B	PRCP	P42785	504
FAM181B	NABP1	Q96AH0	500
FAM181B	ZNF536	O15090	490
FAM181B	TMEM101	Q96IK0	477
FAM181B	WFDC10B	Q8IUB3	471
FAM181B	FHAD1	B1AJZ9	452
FAM181B	PRSS23	O95084	434
FAM181B	CIB4	A0PJX0	432
FAM181B	MROH1	Q8NDA8	376
FAM181B	ANKRD42	Q8N9B4	355
FAM181B	NABP2	Q9BQ15	348
FAM181B	TSSK6	Q9BXA6	342
FAM181B	CAVIN2	O95810	336
FAM181B	DDIAS	Q8IXT1	335
FAM181B	TIMMDC1	Q9NPL8	330

IntAct

0 interactions, top by confidence:

BioGRID (2): FAM181B (Positive Genetic), RIN3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A6NEQ2, A6NJT0, A7MB34, A8MYZ6, G3UXB3, O02755, O02756, O08934, O35392, O70218, O70220, O89113, P16443, P17542, P17676, P22091, P49716, P50548, P82976, P97830, Q00322, Q00911, Q01822, Q03484, Q10586, Q15270, Q32PF6, Q5PQP0, Q5T953, Q5TGY3, Q5VY09, Q60843, Q60925, Q64305, Q6PAL7, Q70KY4, Q7RTS3, Q80VF6, Q8WY41, Q96RK0

Diamond homologs: A6NEQ2, A7MB34, Q80VF6, Q8N9Y4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

56 predictions. Top by Δscore:

Variant	Effect	Δscore
11:82733448:G:A	donor_gain	0.9100
11:82733475:G:A	donor_gain	0.8400
11:82733462:T:A	donor_gain	0.7600
11:82733444:A:AC	donor_gain	0.6600
11:82733445:C:CC	donor_gain	0.6600
11:82733241:T:TA	donor_gain	0.6200
11:82733455:T:TC	donor_gain	0.5800
11:82733148:T:TA	donor_gain	0.5700
11:82733446:T:C	donor_gain	0.5700
11:82733435:T:TA	donor_gain	0.5600
11:82733441:G:C	donor_gain	0.5500
11:82733301:G:A	donor_gain	0.5200
11:82733031:C:CT	acceptor_gain	0.5100
11:82733171:C:CT	donor_gain	0.4800
11:82733174:C:CA	donor_gain	0.4700
11:82733837:A:AC	donor_gain	0.4700
11:82733838:C:CC	donor_gain	0.4700
11:82733456:TC:T	donor_gain	0.4600
11:82733457:C:T	donor_gain	0.4500
11:82733172:C:CT	donor_gain	0.4300
11:82730050:A:C	acceptor_gain	0.4100
11:82733468:TCG:T	donor_gain	0.4000
11:82733199:C:CA	donor_gain	0.3900
11:82733031:C:T	acceptor_gain	0.3800
11:82733462:TCCGC:T	donor_gain	0.3700
11:82733611:T:TA	donor_gain	0.3700
11:82733191:TCGG:T	donor_gain	0.3600
11:82733192:CGGC:C	donor_gain	0.3600
11:82733607:ATCGT:A	donor_gain	0.3600
11:82733170:G:C	donor_gain	0.3500

AlphaMissense

2692 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:82733428:A:G	I101T	1.000
11:82733440:A:G	L97P	1.000
11:82733443:T:C	Y96C	1.000
11:82733444:A:G	Y96H	1.000
11:82733450:G:T	R94S	1.000
11:82733453:G:C	H93D	1.000
11:82733488:A:G	L81P	1.000
11:82733500:A:C	I77S	1.000
11:82733500:A:G	I77T	1.000
11:82733500:A:T	I77N	1.000
11:82733524:A:G	F69S	1.000
11:82733424:C:A	K102N	0.999
11:82733424:C:G	K102N	0.999
11:82733428:A:C	I101S	0.999
11:82733428:A:T	I101N	0.999
11:82733433:C:A	K99N	0.999
11:82733433:C:G	K99N	0.999
11:82733435:T:C	K99E	0.999
11:82733436:C:A	Q98H	0.999
11:82733436:C:G	Q98H	0.999
11:82733440:A:T	L97Q	0.999
11:82733447:T:C	K95E	0.999
11:82733449:C:G	R94P	0.999
11:82733451:G:C	H93Q	0.999
11:82733451:G:T	H93Q	0.999
11:82733452:T:C	H93R	0.999
11:82733453:G:T	H93N	0.999
11:82733488:A:T	L81Q	0.999
11:82733496:C:A	K78N	0.999
11:82733496:C:G	K78N	0.999

dbSNP variants (sampled 300 via entrez): RS1000847896 (11:82731960 AC>A), RS1000901102 (11:82733067 C>G,T), RS1001304501 (11:82731868 C>T), RS1001354794 (11:82731599 T>A,C), RS1002046369 (11:82731354 G>A), RS1002411199 (11:82732787 C>T), RS1002784161 (11:82734293 A>G), RS1002815331 (11:82734072 C>T), RS1003036438 (11:82730250 C>G), RS1003823489 (11:82735510 A>G), RS1004123940 (11:82729759 G>A), RS1004486750 (11:82732611 G>A,T), RS1004858007 (11:82729648 C>T), RS1006102031 (11:82731583 A>G), RS1006450691 (11:82731322 A>G)

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
GCST003074_15	Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging)	2.000000e-07
GCST008521_2	Bitter beverage consumption	9.000000e-07
GCST008892_13	Working memory	6.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007707	cerebral amyloid deposition measurement
EFO:0010089	bitter beverage consumption measurement
EFO:0004335	short-term memory

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
entinostat	affects cotreatment, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	decreases expression, affects expression	2
ferrous chloride	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects expression	1
Endosulfan	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lead	decreases expression	1
Methotrexate	decreases expression	1
Progesterone	increases expression	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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