FAM247C

Summary

FAM247C (family with sequence similarity 247 member C, HGNC:54928) is a long non-coding RNA gene on chromosome 22q11.21.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:54928
Approved symbol	FAM247C
Name	family with sequence similarity 247 member C
Location	22q11.21
Locus type	RNA, long non-coding
Status	Approved
Entrez	105377182

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
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): RS1003124172 (22:18758093 C>T), RS1003481065 (22:18760734 T>C), RS1004530442 (22:18766248 A>G), RS1007983530 (22:18763227 T>A), RS1011781507 (22:18763077 T>C), RS1018056930 (22:18764691 A>C,G), RS1018484294 (22:18763278 C>T), RS1021877907 (22:18761042 G>C), RS1021931741 (22:18758410 G>C), RS1026780330 (22:18766207 T>C), RS1026837939 (22:18765092 A>G), RS1030686962 (22:18763140 C>G), RS1031199280 (22:18761085 A>T), RS1032257702 (22:18765678 C>A), RS1035048076 (22:18758259 T>TC)

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.