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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAM120C
family with sequence similarity 120 member C
Chromosome X · Xp11.22
NCBI Gene: 54954Ensembl: ENSG00000184083.12HGNC: HGNC:16949UniProt: F8W881
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingnucleustype 2 diabetes mellitusglycoprotein storage diseasehemoglobin H diseasedominant beta-thalassemia
✦AI Summary

FAM120C (family with sequence similarity 120 member C) is an X-linked gene located at Xp11.22 that encodes a putative transmembrane protein with 1096 amino acids 1. The protein contains five predicted transmembrane domains and belongs to a family of novel transmembrane proteins that evolved during early chordate development 1. FAM120C demonstrates RNA binding capacity and localizes to the nucleus [GO annotations], with functional roles identified in chrX organization and interactions with the Fragile X Mental Retardation Protein (FMRP) network through association with CYFIP1 2. In cell structure mapping, FAM120C functions within pre-ribosomal RNA processing assemblies involved in rRNA maturation 3. Clinically, FAM120C deletions are associated with autism spectrum disorder (ASD), intellectual disability, and craniofacial abnormalities. Complete deletion of FAM120C was identified in two brothers with ASD, intellectual disability, and cleft lip/palate 4, while a discontiguous deletion encompassing FAM120C correlated with syndromic autism in another patient 2. The gene shows enriched expression in brain tissues including pituitary, cerebellum, and cortex, with a cortical expression pattern similar to Fmr1 2. However, resequencing of FAM120C in 87 male autism patients identified no novel mutations, suggesting deletions rather than point mutations may be primary pathogenic mechanisms 2.

Sources cited
1
FAM120C has functional roles in chromatin organization and pre-ribosomal RNA processing assemblies governing rRNA maturation
PMID: 34819669
2
FAM120C deletion associates with autism spectrum disorder, intellectual disability, and cleft lip/palate in affected individuals
PMID: 18498374
3
FAM120C interacts with CYFIP1 in the FMRP network, shows enriched brain expression, and is a candidate gene for autism spectrum disorder
PMID: 25258334
4
FAM120C encodes a 1096 amino acid putative transmembrane protein with five transmembrane domains located at Xp11.22
PMID: 14585507
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.06Suggestive
glycoprotein storage diseaseOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
neuronal ceroid lipofuscinosis 1Open Targets
0.04Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
acute erythroleukemiaOpen Targets
0.03Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.03Suggestive
hereditary neutrophiliaOpen Targets
0.03Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.03Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.03Suggestive
congenital dyserythropoietic anemia type 2Open Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IIOpen Targets
0.03Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.03Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.03Suggestive
portal hypertensionOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PHF8Protein interaction87%WNK3Protein interaction87%DNAJC28Protein interaction72%MPLKIPProtein interaction72%BIVM-ERCC5Protein interaction72%
Tissue Expression6 tissues
Brain
100%
Ovary
65%
Bone Marrow
49%
Heart
49%
Liver
33%
Lung
24%
Gene Interaction Network
Click a node to explore
FAM120CPHF8WNK3DNAJC28MPLKIPBIVM-ERCC5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NX05
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.20 [0.13–0.31]
RankingsWhere FAM120C stands among ~20K protein-coding genes
  • #9,071of 20,598
    Most Researched48
  • #1,202of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedFAM120C
Sources retrieved4 papers
Response time—
📄 Sources
4
1
A multi-scale map of cell structure fusing protein images and interactions.
PMID: 34819669
Nature · 2021
1.00
2
Autism-associated familial microdeletion of Xp11.22.
PMID: 18498374
Clin Genet · 2008
0.75
3
A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.
PMID: 25258334
Am J Med Genet A · 2014
0.50
4
The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34.
PMID: 14585507
Gene · 2003
0.25