FAM239C

Summary

FAM239C (family with sequence similarity 239 member C, HGNC:53416) is a long non-coding RNA gene on chromosome Xp22.33.

At a glance

• Clinical variants (ClinVar): 1 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53416
Approved symbol	FAM239C
Name	family with sequence similarity 239 member C
Location	Xp22.33
Locus type	RNA, long non-coding
Status	Approved
Ensembl gene	ENSG00000205662
Entrez	107987330

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

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

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000303478 (X:3930608 T>C,G), RS1000632835 (X:3932251 C>T), RS1001252559 (X:3938860 G>A), RS1001627401 (X:3937985 G>A,C), RS1004312102 (X:3930360 T>A,C), RS1004714857 (X:3939220 G>A), RS1005898115 (X:3938025 A>C,G), RS1008398214 (X:3938307 G>A,T), RS1009984527 (X:3939056 A>G), RS1010005807 (X:3939329 CA>C), RS1014340921 (X:3932592 A>G), RS1014352168 (X:3937629 C>T), RS1015213820 (X:3937735 C>T), RS1016274683 (X:3939388 G>A), RS1020024061 (X:3939330 AG>A,AGG)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

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