FAM110B

Summary

FAM110B (family with sequence similarity 110 member B, HGNC:28587) is a protein-coding gene on chromosome 8q12.1, encoding Protein FAM110B (Q8TC76). May be involved in tumor progression.

Located in cytosol and mitochondrion.

Source: NCBI Gene 90362 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 51 total — 1 pathogenic
• MANE Select transcript: NM_001377989

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28587
Approved symbol	FAM110B
Name	family with sequence similarity 110 member B
Location	8q12.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC39325
Ensembl gene	ENSG00000169122
Ensembl biotype	protein_coding
OMIM	611394
Entrez	90362

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 20 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000361488, ENST00000518427, ENST00000519262, ENST00000520369, ENST00000521413, ENST00000522059, ENST00000523486, ENST00000898541, ENST00000898542, ENST00000898543, ENST00000898544, ENST00000898545, ENST00000898546, ENST00000898547, ENST00000969870, ENST00000969871, ENST00000969872, ENST00000969873, ENST00000969874, ENST00000969875, ENST00000969876, ENST00000969877, ENST00000969878, ENST00000969879, ENST00000969880

RefSeq mRNA: 4 — MANE Select: NM_001377989 NM_001377989, NM_001377997, NM_001377998, NM_147189

CCDS: CCDS6170

Canonical transcript exons

ENST00000519262 — 4 exons

Exon	Start	End
ENSE00001198191	58075535	58075623
ENSE00001426624	58031606	58031703
ENSE00002093992	58145907	58148784
ENSE00002134052	57994523	57994806

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 96.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6313 / max 300.7992, expressed in 1366 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88969	5.7737	1168
88970	4.5707	1177
88968	1.5532	709
88975	0.7884	144
88971	0.5061	314
88976	0.4393	177

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	96.76	gold quality
cartilage tissue	UBERON:0002418	93.28	gold quality
middle temporal gyrus	UBERON:0002771	91.87	gold quality
ganglionic eminence	UBERON:0004023	91.87	gold quality
ventricular zone	UBERON:0003053	90.64	gold quality
apex of heart	UBERON:0002098	87.64	gold quality
heart left ventricle	UBERON:0002084	87.32	gold quality
cardiac ventricle	UBERON:0002082	87.24	gold quality
entorhinal cortex	UBERON:0002728	86.57	gold quality
cerebellar cortex	UBERON:0002129	86.25	gold quality
cerebellum	UBERON:0002037	86.19	gold quality
cerebellar hemisphere	UBERON:0002245	86.19	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.99	gold quality
embryo	UBERON:0000922	85.54	gold quality
temporal lobe	UBERON:0001871	85.38	gold quality
pons	UBERON:0000988	85.31	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.31	gold quality
amygdala	UBERON:0001876	85.13	gold quality
heart	UBERON:0000948	85.01	gold quality
spleen	UBERON:0002106	84.62	gold quality
gastrocnemius	UBERON:0001388	84.35	gold quality
right atrium auricular region	UBERON:0006631	84.22	gold quality
primary visual cortex	UBERON:0002436	84.21	gold quality
cardiac atrium	UBERON:0002081	83.92	gold quality
muscle of leg	UBERON:0001383	83.78	gold quality
heart right ventricle	UBERON:0002080	83.64	gold quality
prefrontal cortex	UBERON:0000451	83.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.32	gold quality
hindlimb stylopod muscle	UBERON:0004252	83.31	gold quality
cingulate cortex	UBERON:0003027	83.23	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	36.01
E-ANND-3	yes	15.81
E-GEOD-109979	no	119.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

134 targeting FAM110B, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3912-5P	99.95	66.11	925

Literature-anchored findings (GeneRIF, showing 2)

• Localizes to centrosomes and accumulates at the microtubule organization center in interphase and at spindle poles in mitosis; ectopic expression impairs cell cycle progression in the G1 phase. (PMID:17499476)
• FAM110B was able to regulate androgen receptor signaling in prostate cancer cells and FAM110B itself was regulated by androgens. FAM110B siRNA inhibited the growth of prostate cancer cells in vitro. (PMID:21919029)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam110b	ENSDARG00000088073
mus_musculus	Fam110b	ENSMUSG00000049119
rattus_norvegicus	Fam110b	ENSRNOG00000009114

Paralogs (3): FAM110A (ENSG00000125898), FAM110C (ENSG00000184731), FAM110D (ENSG00000197245)

Protein

Protein identifiers

Protein FAM110B — Q8TC76 (reviewed: Q8TC76)

All UniProt accessions (1): Q8TC76

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in tumor progression.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Tissue specificity. Detected in thyroid, spleen and testis, and at lower levels in stomach, spinal cord, lymph node, trachea, adrenal gland, prostate, ovary and intestine.

Similarity. Belongs to the FAM110 family.

RefSeq proteins (4): NP_001364918, NP_001364926, NP_001364927, NP_671722 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025739	FAM110_N	Domain
IPR025740	FAM110	Family
IPR025741	FAM110_C	Domain

Pfam: PF14160, PF14161

UniProt features (11 total): region of interest 3, sequence conflict 3, modified residue 2, chain 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TC76-F1	59.48	0.03

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 238, 301

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, MORF_RAD51L3, GOCC_MICROTUBULE_ORGANIZING_CENTER, DOANE_RESPONSE_TO_ANDROGEN_DN, GOCC_CENTROSOME, MORF_PRKCA, MORF_THPO, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, MORF_ATF2, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, YNGTTNNNATT_UNKNOWN, TAKAO_RESPONSE_TO_UVB_RADIATION_DN, chr8q12, YAUCH_HEDGEHOG_SIGNALING_PARACRINE_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN

GO Biological Process (0):

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

GO Cellular Component (5): mitochondrion (GO:0005739), centrosome (GO:0005813), cytosol (GO:0005829), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
binding	1
intracellular membrane-bounded organelle	1
centriole	1
microtubule organizing center	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

460 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM110B	CSPP1	Q1MSJ5	948
FAM110B	UBXN2B	Q14CS0	674
FAM110B	TMEM68	Q96MH6	619
FAM110B	CHCHD7	Q9BUK0	614
FAM110B	XKR4	Q5GH76	594
FAM110B	NSMAF	Q92636	591
FAM110B	SDR16C5	Q8N3Y7	585
FAM110B	GIN1	Q9NXP7	549
FAM110B	BUD31	P41223	518
FAM110B	MSANTD4	Q8NCY6	506
FAM110B	BPNT2	Q9NX62	495
FAM110B	PLAG1	Q6DJT9	487
FAM110B	ANKRD49	Q8WVL7	472
FAM110B	LCORL	Q8N3X6	468
FAM110B	DHX8	Q14562	465

IntAct

207 interactions, top by confidence:

A	B	Type	Score
CSNK1D	PER2	psi-mi:“MI:0914”(association)	0.810
FAM110B	YWHAE	psi-mi:“MI:0915”(physical association)	0.670
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
PKNOX1	FAM110B	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	FAM110B	psi-mi:“MI:0915”(physical association)	0.560
FAM110B	PKNOX2	psi-mi:“MI:0915”(physical association)	0.560
FAM110B	MEIS3	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
FAM110B	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.550
CSNK1E	POTEF	psi-mi:“MI:0914”(association)	0.530
CSNK1E	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
CRK	FAM110B	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
GORASP2	FAM110B	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110B	RADIL	psi-mi:“MI:0407”(direct interaction)	0.440
DLG4	FAM110B	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (70): FAM110B (Reconstituted Complex), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS), FAM110B (Affinity Capture-MS)

ESM2 similar proteins: B0KYV5, F1RCE7, G3V9A7, O94763, P97432, Q0IIJ3, Q14596, Q15390, Q3B7M7, Q3SYW5, Q3ULM0, Q4KMA0, Q4R3X1, Q4R8G4, Q4V891, Q501R9, Q53SF7, Q5BJU7, Q5BJX5, Q5NVG8, Q5R413, Q5R5R3, Q5RC94, Q5RD40, Q5RFN3, Q6A098, Q6P2K3, Q6P444, Q6ZNC4, Q86Z20, Q8BHE0, Q8C739, Q8CG79, Q8IZD4, Q8NA72, Q8NFW9, Q8R5H6, Q8TC76, Q8VHI6, Q92558

Diamond homologs: A6H7I7, Q1W6H9, Q2KJ38, Q4QRD7, Q58DG5, Q5BJX5, Q5R5R3, Q5RKJ0, Q80X91, Q8C739, Q8R184, Q8TAY7, Q8TC76, Q8VE94, Q9BQ89

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 150 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Dopamine Neurotransmitter Release Cycle	5	25.1×	5e-05
Protein-protein interactions at synapses	9	24.1×	2e-08
Neurexins and neuroligins	12	23.9×	2e-11
Assembly and cell surface presentation of NMDA receptors	9	23.1×	2e-08
RHO GTPases activate PKNs	5	16.0×	3e-04
RND3 GTPase cycle	6	15.7×	7e-05
RHOQ GTPase cycle	8	14.7×	4e-06
Cell death signalling via NRAGE, NRIF and NADE	5	11.1×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	36.8×	1e-09
protein localization to synapse	6	32.4×	7e-06
receptor clustering	6	26.4×	2e-05
regulation of postsynaptic membrane neurotransmitter receptor levels	6	20.9×	5e-05
establishment of cell polarity	6	16.2×	2e-04
bicellular tight junction assembly	5	11.6×	3e-03
regulation of small GTPase mediated signal transduction	9	9.1×	7e-05
Rho protein signal transduction	5	8.7×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	40
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	Pathogenic

SpliceAI

2229 predictions. Top by Δscore:

Variant	Effect	Δscore
8:58031601:TTTAG:T	acceptor_loss	1.0000
8:58031602:TTA:T	acceptor_loss	1.0000
8:58031603:TAGA:T	acceptor_loss	1.0000
8:58031604:A:AC	acceptor_loss	1.0000
8:58031604:A:AG	acceptor_gain	1.0000
8:58031605:G:GG	acceptor_gain	1.0000
8:58031605:GA:G	acceptor_gain	1.0000
8:58031605:GAA:G	acceptor_gain	1.0000
8:58031605:GAAAT:G	acceptor_gain	1.0000
8:58031674:GCTCT:G	donor_gain	1.0000
8:58043300:G:GG	donor_gain	1.0000
8:58075530:TTTA:T	acceptor_loss	1.0000
8:58075531:TTA:T	acceptor_loss	1.0000
8:58075533:A:AG	acceptor_gain	1.0000
8:58075533:AGC:A	acceptor_loss	1.0000
8:58075534:G:GC	acceptor_loss	1.0000
8:58075534:G:GG	acceptor_gain	1.0000
8:58075534:GC:G	acceptor_gain	1.0000
8:58075534:GCA:G	acceptor_gain	1.0000
8:58075534:GCAA:G	acceptor_gain	1.0000
8:58113039:G:T	donor_gain	1.0000
8:57994804:CAG:C	donor_loss	0.9900
8:57994806:GG:G	donor_loss	0.9900
8:57994807:G:A	donor_loss	0.9900
8:57994808:T:G	donor_loss	0.9900
8:58031605:GAAA:G	acceptor_gain	0.9900
8:58031700:AAAG:A	donor_loss	0.9900
8:58031703:GGT:G	donor_loss	0.9900
8:58031704:G:GC	donor_loss	0.9900
8:58031705:T:A	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000031517 (8:58011916 T>G), RS1000035111 (8:58148673 G>A), RS1000054138 (8:58103428 T>C), RS1000061400 (8:58085385 T>G), RS1000069605 (8:58149263 C>T), RS1000070989 (8:58110035 A>C), RS1000096871 (8:58097982 T>C,G), RS1000099271 (8:58019317 A>G), RS1000126396 (8:58098306 A>G), RS1000145565 (8:58037478 A>T), RS1000159756 (8:57993633 A>C), RS1000185560 (8:58109746 C>T), RS1000213851 (8:58132076 G>A), RS1000217036 (8:58080268 G>A), RS1000287492 (8:58057281 G>A)

Disease associations

OMIM: gene MIM:611394 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000821_44	Bipolar disorder and schizophrenia	2.000000e-07
GCST002250_3	Blood pressure measurement (low sodium intervention)	1.000000e-07
GCST002250_4	Blood pressure measurement (low sodium intervention)	4.000000e-07
GCST002358_6	Pit-and-Fissure caries	2.000000e-06
GCST003807_6	Systolic blood pressure response to hydrochlorothiazide in hypertension	7.000000e-06
GCST007139_2	Shingles	1.000000e-08
GCST009144_33	Disease progression in age-related macular degeneration (adjusted for baseline)	1.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005402	response to low sodium diet
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0006944	systolic blood pressure change measurement
EFO:0008336	disease progression measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
Benzo(a)pyrene	affects methylation, decreases expression, increases expression, increases methylation	4
trichostatin A	affects cotreatment, increases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, decreases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Particulate Matter	increases expression, increases methylation, increases abundance	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
afimoxifene	decreases reaction, decreases expression	1
sodium arsenite	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	affects 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	increases expression, affects cotreatment	1
bisphenol S	affects cotreatment, decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	increases expression, affects binding	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Leflunomide	increases expression	1
Panobinostat	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1

Clinical trials (associated diseases)

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