FAM81B

Summary

FAM81B (family with sequence similarity 81 member B, HGNC:26335) is a protein-coding gene on chromosome 5q15, encoding Protein FAM81B (Q96LP2).

Located in nucleus.

Source: NCBI Gene 153643 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_152548

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26335
Approved symbol	FAM81B
Name	family with sequence similarity 81 member B
Location	5q15
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25333
Ensembl gene	ENSG00000153347
Ensembl biotype	protein_coding
Entrez	153643

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 nonsense_mediated_decay, 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000283357, ENST00000503099, ENST00000503361, ENST00000506418, ENST00000507832, ENST00000510458, ENST00000512365, ENST00000513110, ENST00000513529

RefSeq mRNA: 1 — MANE Select: NM_152548 NM_152548

CCDS: CCDS43341

Canonical transcript exons

ENST00000283357 — 10 exons

Exon	Start	End
ENSE00001137184	95413947	95414190
ENSE00001207100	95392794	95392897
ENSE00001536061	95391366	95391513
ENSE00002077491	95450149	95450441
ENSE00003461294	95446562	95446697
ENSE00003521893	95436800	95436906
ENSE00003552419	95396111	95396175
ENSE00003584632	95428603	95428732
ENSE00003651085	95448269	95448464
ENSE00003663219	95420284	95420402

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 98.96.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8665 / max 125.6259, expressed in 176 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57618	0.8270	171
57619	0.0295	11
57616	0.0071	4
57617	0.0029	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.96	gold quality
sperm	CL:0000019	98.65	gold quality
right uterine tube	UBERON:0001302	98.11	gold quality
bronchus	UBERON:0002185	97.94	gold quality
left testis	UBERON:0004533	96.01	gold quality
right testis	UBERON:0004534	95.91	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.33	gold quality
oviduct epithelium	UBERON:0004804	94.16	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.52	gold quality
testis	UBERON:0000473	93.37	gold quality
epithelium of nasopharynx	UBERON:0001951	90.47	gold quality
nasopharynx	UBERON:0001728	90.46	gold quality
fallopian tube	UBERON:0003889	87.91	gold quality
oocyte	CL:0000023	87.67	gold quality
nasal cavity epithelium	UBERON:0005384	87.51	gold quality
caput epididymis	UBERON:0004358	87.49	gold quality
cardiac muscle of right atrium	UBERON:0003379	80.38	gold quality
right atrium auricular region	UBERON:0006631	79.23	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.91	gold quality
cardiac atrium	UBERON:0002081	78.68	gold quality
nasal cavity mucosa	UBERON:0001826	78.15	gold quality
adult organism	UBERON:0007023	77.05	gold quality
monocyte	CL:0000576	76.79	gold quality
left ventricle myocardium	UBERON:0006566	75.53	gold quality
leukocyte	CL:0000738	75.35	gold quality
secondary oocyte	CL:0000655	75.24	gold quality
right lung	UBERON:0002167	73.83	gold quality
cauda epididymis	UBERON:0004360	72.84	gold quality
apex of heart	UBERON:0002098	72.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	26.60
E-MTAB-10287	yes	25.00
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting FAM81B, 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-4795-3P	100.00	74.62	4024
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4502	99.65	66.99	1021

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam81b	ENSDARG00000035193
mus_musculus	Fam81b	ENSMUSG00000109228
rattus_norvegicus	Fam81b	ENSRNOG00000026845

Paralogs (1): FAM81A (ENSG00000157470)

Protein

Protein identifiers

Protein FAM81B — Q96LP2 (reviewed: Q96LP2)

All UniProt accessions (7): Q96LP2, H0Y8I8, H0Y942, H0Y947, H0Y979, H0Y9A7, H0Y9S5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM81 family.

RefSeq proteins (1): NP_689761* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029619	FAM81	Family

UniProt features (10 total): sequence variant 4, coiled-coil region 2, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LP2-F1	76.17	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 44 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, TGACATY_UNKNOWN, ATF3_Q6, HFH1_01, CERVERA_SDHB_TARGETS_1_UP, chr5q15, DODD_NASOPHARYNGEAL_CARCINOMA_DN, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, FOXJ2_TARGET_GENES, MAFG_TARGET_GENES, ZNF146_TARGET_GENES, ZNF486_TARGET_GENES, MIR6885_3P, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2

GO Biological Process (0):

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

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM81B	CFAP36	Q96G28	533
FAM81B	TMCO2	Q7Z6W1	494
FAM81B	CCDC187	A0A096LP49	491
FAM81B	CCDC54	Q8NEL0	484
FAM81B	CXorf65	A6NEN9	473
FAM81B	ARMC3	Q5W041	469
FAM81B	FAM209A	Q5JX71	467
FAM81B	C20orf173	Q96LM9	448
FAM81B	ZC3H11D	Q8NA57	443
FAM81B	TMEM106A	Q96A25	443
FAM81B	CABS1	Q96KC9	427
FAM81B	GARIN1B	Q96KD3	426
FAM81B	CIMIP4	O43247	420
FAM81B	ENKUR	Q8TC29	420
FAM81B	CIMAP3	Q8TCI5	418

IntAct

26 interactions, top by confidence:

A	B	Type	Score
FAM81B	RINT1	psi-mi:“MI:0915”(physical association)	0.670
RINT1	FAM81B	psi-mi:“MI:0915”(physical association)	0.670
OPY1	FAM81B	psi-mi:“MI:0915”(physical association)	0.610
FAM81B	OPY1	psi-mi:“MI:0915”(physical association)	0.610
FAM81B	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
RNPS1	FAM81B	psi-mi:“MI:0915”(physical association)	0.560
IFT20	FAM81B	psi-mi:“MI:0915”(physical association)	0.560
ZNF655	FAM81B	psi-mi:“MI:0915”(physical association)	0.560
FAM81B	PCNT	psi-mi:“MI:0914”(association)	0.530
FAM81B	NES	psi-mi:“MI:0915”(physical association)	0.400
FAM81B	UBA6	psi-mi:“MI:0914”(association)	0.350
FAM81B	LZTS1	psi-mi:“MI:0915”(physical association)	0.000
RNPS1	FAM81B	psi-mi:“MI:0915”(physical association)	0.000
FAM81B	ZNF655	psi-mi:“MI:0915”(physical association)	0.000
FAM81B	IFT20	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): FAM81B (Two-hybrid), PCNT (Affinity Capture-MS), PCM1 (Affinity Capture-MS), CDK5RAP2 (Affinity Capture-MS), FAM81B (Two-hybrid), FAM81B (Two-hybrid), FAM81B (Two-hybrid), ZNF655 (Two-hybrid), RNPS1 (Two-hybrid), FAM81B (Proximity Label-MS), CDK5RAP2 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), PCNT (Affinity Capture-MS), UBA3 (Affinity Capture-MS), UBA6 (Affinity Capture-MS)

ESM2 similar proteins: A2VE00, A2VE53, A2XW69, A5PMY6, A6QP79, B2RPV6, F1QC17, F7DP49, O75071, Q07065, Q0II90, Q13201, Q2LK54, Q32L59, Q3UIJ9, Q4V7C8, Q4V885, Q53EZ4, Q5BIX7, Q5EAJ6, Q5EB94, Q5KU26, Q5R6R3, Q5R923, Q5RI56, Q5ZM60, Q61595, Q640L3, Q6AZY7, Q6NRC9, Q6P6L0, Q70UQ0, Q7XU27, Q7Z7B0, Q84VY2, Q8BGQ6, Q8BIS8, Q8BMK4, Q8BT07, Q8BVC4

Diamond homologs: D4A7T8, Q0II90, Q3UXZ6, Q8TBF8, Q96LP2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1678 predictions. Top by Δscore:

Variant	Effect	Δscore
5:95396176:G:GG	donor_gain	1.0000
5:95436907:G:GG	donor_gain	1.0000
5:95448267:A:AG	acceptor_gain	1.0000
5:95448267:AG:A	acceptor_gain	1.0000
5:95448268:G:GA	acceptor_gain	1.0000
5:95448268:GG:G	acceptor_gain	1.0000
5:95448268:GGA:G	acceptor_gain	1.0000
5:95448268:GGAA:G	acceptor_gain	1.0000
5:95448268:GGAAA:G	acceptor_gain	1.0000
5:95448465:G:GA	donor_loss	1.0000
5:95449267:GCATA:G	donor_gain	1.0000
5:95449271:A:AG	donor_gain	1.0000
5:95449271:A:G	donor_gain	1.0000
5:95396171:GACAA:G	donor_gain	0.9900
5:95413940:T:A	acceptor_gain	0.9900
5:95413946:GGA:G	acceptor_gain	0.9900
5:95413975:A:G	acceptor_gain	0.9900
5:95414124:G:GT	donor_gain	0.9900
5:95414186:TTGAG:T	donor_loss	0.9900
5:95414187:TGAGG:T	donor_loss	0.9900
5:95414189:AGG:A	donor_loss	0.9900
5:95414190:GGTAG:G	donor_loss	0.9900
5:95414191:G:A	donor_loss	0.9900
5:95414192:T:A	donor_loss	0.9900
5:95420399:CCAG:C	donor_loss	0.9900
5:95420400:CAG:C	donor_loss	0.9900
5:95420401:AG:A	donor_loss	0.9900
5:95420402:GGTGA:G	donor_loss	0.9900
5:95420403:G:GC	donor_loss	0.9900
5:95420404:T:G	donor_loss	0.9900

AlphaMissense

3014 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:95420394:A:C	R216S	0.994
5:95420394:A:T	R216S	0.994
5:95420384:T:C	L213P	0.993
5:95414174:T:C	L174P	0.991
5:95428604:T:C	C220R	0.990
5:95420387:G:C	R214P	0.989
5:95428603:A:C	R219S	0.988
5:95428603:A:T	R219S	0.988
5:95420384:T:A	L213H	0.987
5:95420392:A:G	R216G	0.986
5:95420398:G:C	A218P	0.986
5:95414165:T:A	V171D	0.984
5:95420402:G:C	R219T	0.983
5:95428626:T:C	L227P	0.983
5:95420393:G:C	R216T	0.982
5:95450169:T:C	S416P	0.982
5:95450182:T:C	L420P	0.982
5:95414132:T:C	L160P	0.980
5:95428608:A:C	D221A	0.980
5:95420309:G:C	R188P	0.979
5:95428607:G:C	D221H	0.979
5:95420384:T:G	L213R	0.978
5:95428606:T:G	C220W	0.978
5:95428608:A:G	D221G	0.977
5:95428608:A:T	D221V	0.977
5:95450173:T:C	L417P	0.977
5:95414047:G:C	A132P	0.976
5:95436810:T:C	L266P	0.976
5:95420381:A:G	D212G	0.974
5:95420380:G:C	D212H	0.972

dbSNP variants (sampled 300 via entrez): RS1000034155 (5:95447668 G>A,T), RS1000064194 (5:95441995 A>G), RS1000078137 (5:95444465 A>G), RS1000096208 (5:95396668 T>C), RS1000125304 (5:95398441 A>T), RS1000182315 (5:95391334 A>G), RS1000197196 (5:95435036 T>C), RS1000209889 (5:95426048 A>T), RS1000339946 (5:95449067 C>T), RS1000350540 (5:95428318 C>A,T), RS1000369771 (5:95431888 T>A,C), RS1000482471 (5:95393084 T>G), RS1000495961 (5:95398744 G>A), RS1000579815 (5:95395150 G>A,C), RS1000679368 (5:95446151 C>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

1 associations (top):

Study	Trait	p-value
GCST008528_4	Sweet beverage consumption	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010090	sweet beverage consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression	2
Valproic Acid	decreases expression, decreases methylation	2
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Smoke	increases abundance, increases expression	1
Thimerosal	increases expression	1
Aflatoxin B1	decreases expression	1

Clinical trials (associated diseases)

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