FAM107B

Summary

FAM107B (family with sequence similarity 107 member B, HGNC:23726) is a protein-coding gene on chromosome 10p13, encoding Protein FAM107B (Q9H098).

Predicted to act upstream of or within sensory perception of sound.

Source: NCBI Gene 83641 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_031453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23726
Approved symbol	FAM107B
Name	family with sequence similarity 107 member B
Location	10p13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ45505, MGC11034, HITS
Ensembl gene	ENSG00000065809
Ensembl biotype	protein_coding
Entrez	83641

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 20 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000181796, ENST00000378458, ENST00000378462, ENST00000378465, ENST00000378467, ENST00000378470, ENST00000442012, ENST00000452706, ENST00000464952, ENST00000468492, ENST00000468747, ENST00000471815, ENST00000472095, ENST00000474143, ENST00000475786, ENST00000475858, ENST00000478076, ENST00000479731, ENST00000481209, ENST00000482277, ENST00000487335, ENST00000488576, ENST00000489100, ENST00000491458, ENST00000492700, ENST00000494865, ENST00000495292, ENST00000496330, ENST00000622567

RefSeq mRNA: 17 — MANE Select: NM_031453 NM_001282695, NM_001282696, NM_001282697, NM_001282698, NM_001282699, NM_001282700, NM_001282701, NM_001282702, NM_001282703, NM_001320735, NM_001320736, NM_001320737, NM_001320738, NM_001320739, NM_001320740, NM_001320741, NM_031453

CCDS: CCDS60486, CCDS7102

Canonical transcript exons

ENST00000181796 — 5 exons

Exon	Start	End
ENSE00001364392	14774253	14774897
ENSE00001384477	14667634	14667691
ENSE00001477652	14518557	14521306
ENSE00003540915	14530332	14530515
ENSE00003791615	14521869	14522019

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 99.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 81.4666 / max 2885.7131, expressed in 1689 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108393	73.4045	1685
108379	3.4929	172
108388	1.4716	122
108376	0.6284	83
108386	0.6115	139
108378	0.3559	68
108375	0.2763	66
108384	0.2518	100
108377	0.2459	81
108387	0.1630	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	99.34	gold quality
nasal cavity epithelium	UBERON:0005384	99.30	gold quality
inferior vagus X ganglion	UBERON:0005363	99.15	gold quality
kidney epithelium	UBERON:0004819	99.06	gold quality
renal medulla	UBERON:0000362	98.93	gold quality
ileal mucosa	UBERON:0000331	98.62	gold quality
bone marrow	UBERON:0002371	98.61	gold quality
trachea	UBERON:0003126	98.55	gold quality
ileum	UBERON:0002116	98.52	silver quality
medulla oblongata	UBERON:0001896	98.50	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.46	gold quality
pancreatic ductal cell	CL:0002079	98.38	gold quality
nasal cavity mucosa	UBERON:0001826	98.31	gold quality
bone marrow cell	CL:0002092	98.24	gold quality
lateral globus pallidus	UBERON:0002476	98.17	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.12	gold quality
subthalamic nucleus	UBERON:0001906	98.09	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.09	gold quality
spinal cord	UBERON:0002240	98.08	gold quality
tonsil	UBERON:0002372	98.03	gold quality
superior vestibular nucleus	UBERON:0007227	98.03	gold quality
pylorus	UBERON:0001166	97.98	gold quality
epithelial cell of pancreas	CL:0000083	97.89	gold quality
vermiform appendix	UBERON:0001154	97.84	gold quality
palpebral conjunctiva	UBERON:0001812	97.62	gold quality
lymph node	UBERON:0000029	97.59	gold quality
epithelium of nasopharynx	UBERON:0001951	97.57	gold quality
nasopharynx	UBERON:0001728	97.55	gold quality
trabecular bone tissue	UBERON:0002483	97.53	gold quality
dorsal plus ventral thalamus	UBERON:0001897	97.43	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	78.33
E-HCAD-25	yes	49.59
E-GEOD-135922	yes	25.77
E-GEOD-84465	yes	9.70
E-GEOD-125970	yes	7.76
E-HCAD-29	no	1682.23
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

128 targeting FAM107B, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3658	99.96	73.87	4379
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-4267	99.96	66.53	2368
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-8063	99.91	69.76	3146

Literature-anchored findings (GeneRIF, showing 2)

• These results show that loss of HITS (FAM107B) expression is a common phenomenon observed in cancers of distinct organs and involved in tumor development and proliferation. (PMID:22825356)
• Authors first provide experimental evidence suggesting that FAM107B was downregulated by S100A4 in gastric cancer MGC803 cells. And FAM107B at least partially mediates the biological effect of S100A4 in the cells. (PMID:28675500)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam107b	ENSDARG00000026865
mus_musculus	Fam107b	ENSMUSG00000026655
rattus_norvegicus	Fam107b	ENSRNOG00000014886
drosophila_melanogaster	CG9328	FBGN0032886

Paralogs (1): FAM107A (ENSG00000168309)

Protein

Protein identifiers

Protein FAM107B — Q9H098 (reviewed: Q9H098)

All UniProt accessions (12): Q9H098, A0A1C7CYX8, C9J3Q3, C9J6N5, C9J6Y8, C9JP05, C9JQ40, C9JW51, C9JYP1, F8WCJ2, F8WDH7, X6RET8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM107 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H098-1	1	yes
Q9H098-2	2

RefSeq proteins (17): NP_001269624, NP_001269625, NP_001269626, NP_001269627, NP_001269628, NP_001269629, NP_001269630, NP_001269631, NP_001269632, NP_001307664, NP_001307665, NP_001307666, NP_001307667, NP_001307668, NP_001307669, NP_001307670, NP_113641* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009533	FAM107	Family

Pfam: PF06625

UniProt features (9 total): region of interest 2, modified residue 2, initiator methionine 1, chain 1, coiled-coil region 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H098-F1	82.72	0.42

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): 2, 50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 229 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GCANCTGNY_MYOD_Q6, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, LANG_MYB_FAMILY_TARGETS, FOXD3_01, MARTINEZ_RB1_TARGETS_UP, chr10p13, GATA3_01, GATA6_01, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, LYF1_01, BASAKI_YBX1_TARGETS_DN, ACTTTAT_MIR1425P, BURTON_ADIPOGENESIS_10

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

1226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM107B	NOVA2	Q9UNW9	853
FAM107B	NOVA1	P51513	847
FAM107B	NEO1	Q92859	763
FAM107B	AGO2	Q9UKV8	755
FAM107B	GPHN	Q9NQX3	677
FAM107B	FMR1	Q06787	576
FAM107B	HNRNPA1	P09651	574
FAM107B	CFLAR	O15519	560
FAM107B	GLRA2	P23416	557
FAM107B	MT-CO1	P00395	539
FAM107B	KRT76	Q01546	527
FAM107B	DICER1	Q9UPY3	522
FAM107B	DROSHA	Q9NRR4	495
FAM107B	AGO1	Q9UL18	495
FAM107B	MAPK9	P45984	490

IntAct

7 interactions, top by confidence:

A	B	Type	Score
Fam107b	PLOD2	psi-mi:“MI:0915”(physical association)	0.400
CALD1		psi-mi:“MI:0914”(association)	0.350
PCNP	PAPSS2	psi-mi:“MI:0914”(association)	0.350
OSTN	PEA15	psi-mi:“MI:0914”(association)	0.350
FAM107B	MAP9	psi-mi:“MI:0914”(association)	0.350
recB	FAM107B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): FAM107B (Affinity Capture-MS), FAM107B (Affinity Capture-RNA), FAM107B (Affinity Capture-RNA), FAM107B (Proximity Label-MS), FAM107B (Proximity Label-MS), FAM107B (Proximity Label-MS), FAM107B (Affinity Capture-MS), PAGE5 (Affinity Capture-MS), ESF1 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), DHX38 (Affinity Capture-MS), MAP9 (Affinity Capture-MS), FAM107B (Affinity Capture-MS), FAM107B (Affinity Capture-MS), FAM107B (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUT1, A0JLY1, A4IJ21, A5A6J4, A8I9E8, A8IRJ7, A8IUG5, E1BJL9, F1N7G5, M0R3K6, M1V4Y8, O95990, Q0VC09, Q0VFZ6, Q17QH9, Q1RM03, Q2KI00, Q2KIQ2, Q32LH1, Q3TGF2, Q3TVW5, Q4R698, Q4R7T8, Q4R8Y5, Q5NVP3, Q5RE49, Q5U4F3, Q5XIN9, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q6ZN84, Q78TU8, Q8BRC6, Q8N443

Diamond homologs: A5A6J4, M0R3K6, O95990, Q2KI00, Q3TGF2, Q5NVP3, Q5U4F3, Q78TU8, Q9H098

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

771 predictions. Top by Δscore:

Variant	Effect	Δscore
10:14521303:CAAG:C	acceptor_gain	1.0000
10:14521863:CCTTA:C	donor_loss	1.0000
10:14521864:CTTA:C	donor_loss	1.0000
10:14521865:TTACC:T	donor_loss	1.0000
10:14521866:TACC:T	donor_loss	1.0000
10:14521867:A:AC	donor_gain	1.0000
10:14521868:C:CC	donor_gain	1.0000
10:14521868:CCTG:C	donor_gain	1.0000
10:14522015:GACCC:G	acceptor_gain	1.0000
10:14522016:ACCC:A	acceptor_gain	1.0000
10:14522017:CCC:C	acceptor_gain	1.0000
10:14522017:CCCC:C	acceptor_gain	1.0000
10:14522018:CC:C	acceptor_gain	1.0000
10:14522018:CCC:C	acceptor_gain	1.0000
10:14522019:CC:C	acceptor_gain	1.0000
10:14522020:C:CC	acceptor_gain	1.0000
10:14522021:T:A	acceptor_loss	1.0000
10:14522023:C:CT	acceptor_gain	1.0000
10:14522024:G:T	acceptor_gain	1.0000
10:14522031:CA:C	acceptor_gain	1.0000
10:14522032:A:C	acceptor_gain	1.0000
10:14522032:A:T	acceptor_gain	1.0000
10:14522033:T:C	acceptor_gain	1.0000
10:14522033:T:TC	acceptor_gain	1.0000
10:14530023:TAGG:T	donor_gain	1.0000
10:14530024:AGGA:A	donor_gain	1.0000
10:14530025:G:C	donor_gain	1.0000
10:14530326:TTTTA:T	donor_loss	1.0000
10:14530327:TTTA:T	donor_loss	1.0000
10:14530328:TTA:T	donor_loss	1.0000

AlphaMissense

2029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:14521990:A:G	L53S	1.000
10:14521888:C:G	R87P	0.999
10:14521897:A:G	L84P	0.999
10:14530350:A:G	L37P	0.999
10:14530362:A:G	L33P	0.999
10:14521253:A:C	F111L	0.998
10:14521253:A:T	F111L	0.998
10:14521254:A:C	F111C	0.998
10:14521254:A:G	F111S	0.998
10:14521255:A:G	F111L	0.998
10:14521968:T:A	R60S	0.998
10:14521968:T:G	R60S	0.998
10:14521233:A:G	L118P	0.997
10:14521963:C:G	R62P	0.997
10:14530355:T:A	R35S	0.997
10:14530355:T:G	R35S	0.997
10:14521229:C:A	R119S	0.996
10:14521229:C:G	R119S	0.996
10:14521241:T:A	K115N	0.996
10:14521241:T:G	K115N	0.996
10:14521897:A:T	L84Q	0.996
10:14521969:C:G	R60T	0.996
10:14521998:T:A	K50N	0.996
10:14521998:T:G	K50N	0.996
10:14530347:A:G	L38P	0.996
10:14521909:A:G	L80S	0.995
10:14530350:A:T	L37H	0.995
10:14530372:G:C	H30D	0.995
10:14521990:A:C	L53W	0.994
10:14522000:T:C	K50E	0.994

dbSNP variants (sampled 300 via entrez): RS1000024003 (10:14595873 C>G,T), RS1000027564 (10:14619221 AC>A), RS1000048209 (10:14519670 C>T), RS1000051542 (10:14636929 T>C), RS1000051841 (10:14665125 G>A,T), RS1000055569 (10:14557810 G>C), RS1000065326 (10:14701338 A>G), RS1000095657 (10:14745909 T>C,G), RS1000097126 (10:14706923 G>A), RS1000109088 (10:14671033 A>G), RS1000121694 (10:14746230 G>A), RS1000122055 (10:14535031 G>C), RS1000127281 (10:14607622 T>A), RS1000136720 (10:14747002 T>C), RS1000150755 (10:14689589 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

9 associations (top):

Study	Trait	p-value
GCST002652_9	Cotinine glucuronidation	3.000000e-10
GCST003542_153	Night sleep phenotypes	2.000000e-06
GCST004616_77	Platelet distribution width	2.000000e-14
GCST008359_6	Response to cognitive-behavioural therapy in anxiety disorder	4.000000e-06
GCST008468_1	Nonalcoholic fatty liver disease	3.000000e-06
GCST009391_1662	Metabolite levels	6.000000e-07
GCST010703_216	Brain morphology (MOSTest)	3.000000e-11
GCST90002401_203	Platelet distribution width	8.000000e-30
GCST90002402_108	Platelet count	1.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006508	cotinine glucuronidation measurement
EFO:0007984	platelet component distribution width
EFO:0007820	cognitive behavioural therapy
EFO:0010470	carnosine measurement
EFO:0004346	neuroimaging measurement
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, increases expression	3
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Estradiol	affects expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Tretinoin	increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases methylation	1
sotorasib	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
glycidyl methacrylate	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects expression	1
afimoxifene	decreases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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