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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM107B
family with sequence similarity 107 member B
Chromosome 10 · 10p13
NCBI Gene: 83641Ensembl: ENSG00000065809.14HGNC: HGNC:23726UniProt: Q9H098
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmneurodegenerative diseaseAbnormality of the skeletal systemrhabdomyolysisretinal perforation
✦AI Summary

FAM107B (heat shock-inducible tumor small protein, HITS) is an 18 kDa nuclear protein 1 involved in growth suppression and stress response. Primary function: FAM107B acts as a tumor suppressor, with forced expression diminishing proliferation in response to growth factors 2 and suppressing cellular responses to growth factors 1. Its expression is heat-shock inducible through HSF binding sites in its promoter 1. Mechanism: FAM107B mediates S100A4's inhibitory effects on gastric cancer cell proliferation and migration 2. It normalizes protein levels of SCA2-related cerebellar proteins, including Rgs8, Pcp2, Pcp4, Homer3, and Cep76 3. Disease relevance: FAM107B expression is significantly decreased in multiple cancer types including breast, thyroid, testis, uterine cervix, stomach, and colon cancers 4. Loss of expression correlates inversely with primary tumor size in breast and thyroid cancers 4. Recent genome-wide association studies identified FAM107B variants associated with limbic white matter microstructure in aging; its brain tissue expression significantly correlates with cognitive decline and Alzheimer's disease pathologies 5. It was also identified as a candidate gene for heat stress adaptation in sheep 6. Clinical significance: FAM107B functions as a therapeutic target; forced expression inhibits tumor xenograft proliferation 4, and antisense oligonucleotide targeting ATXN2 normalized FAM107B levels in SCA2 mouse models, improving motor function 3.

Sources cited
1
FAM107B is an 18-kDa nuclear protein with heat-shock inducible expression and tumor suppressor properties
PMID: 20664927
2
FAM107B inhibits gastric cancer cell proliferation and migration, and mediates S100A4 effects on these processes
PMID: 28675500
3
ASO7 treatment normalized FAM107B and other SCA2-related protein levels in cerebellar Purkinje cells
PMID: 28405024
4
FAM107B expression is decreased in breast, thyroid, testis, uterine cervix, stomach, and colon cancers; forced expression inhibits tumor growth
PMID: 22825356
5
FAM107B variants are associated with limbic white matter microstructure; brain FAM107B expression correlates with cognitive decline and AD pathologies
PMID: 40475163
6
FAM107B is a candidate gene for heat stress adaptation in sheep
PMID: 34861880
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Weak
Abnormality of the skeletal systemOpen Targets
0.39Weak
rhabdomyolysisOpen Targets
0.28Weak
retinal perforationOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.25Weak
skin diseaseOpen Targets
0.23Weak
cervical carcinomaOpen Targets
0.23Weak
deafnessOpen Targets
0.12Weak
hearing loss, autosomal recessiveOpen Targets
0.12Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.12Weak
X-linked nonsyndromic hearing lossOpen Targets
0.07Suggestive
autosomal dominant nonsyndromic hearing loss 17Open Targets
0.07Suggestive
autosomal dominant nonsyndromic hearing loss 7Open Targets
0.07Suggestive
autosomal recessive nonsyndromic hearing loss 102Open Targets
0.07Suggestive
autosomal recessive nonsyndromic hearing loss 86Open Targets
0.07Suggestive
deafness, aminoglycoside-inducedOpen Targets
0.07Suggestive
hearing loss, autosomal dominant 88Open Targets
0.07Suggestive
hearing loss, autosomal dominant 89Open Targets
0.07Suggestive
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureOpen Targets
0.07Suggestive
auditory neuropathy, autosomal dominant 3Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NOVA2Protein interaction85%NOVA1Protein interaction85%NEO1Protein interaction78%AGO2Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
42%
Liver
36%
Lung
14%
Heart
6%
Ovary
2%
Gene Interaction Network
Click a node to explore
FAM107BNOVA2NOVA1NEO1AGO2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H098
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.45–0.91]
RankingsWhere FAM107B stands among ~20K protein-coding genes
  • #12,558of 20,598
    Most Researched27
  • #8,225of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedFAM107B
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
PMID: 28405024
Nature · 2017
1.00
2
FAM107B is regulated by S100A4 and mediates the effect of S100A4 on the proliferation and migration of MGC803 gastric cancer cells.
PMID: 28675500
Cell Biol Int · 2017
0.86
3
Genetic architecture of the limbic white matter microstructure in aging and Alzheimer's Disease.
PMID: 40475163
medRxiv · 2025
0.71
4
Loss of HITS (FAM107B) expression in cancers of multiple organs: tissue microarray analysis.
PMID: 22825356
Int J Oncol · 2012
0.57
5
Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds.
PMID: 34861880
BMC Vet Res · 2021
0.43