FAM114A2 (family with sequence similarity 114 member A2)

Gene

• Entrez ID: 10827
• Gene name: Family with sequence similarity 114 member A2
• Gene symbol: FAM114A2
• Synonyms (NCBI Gene): 133K02, C5orf3
• Chromosome: 5
• Chromosome location: 5q33.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029526	hsa-miR-26b-5p	Microarray	19088304
MIRT977393	hsa-miR-1283	CLIP-seq
MIRT977394	hsa-miR-139-5p	CLIP-seq
MIRT977395	hsa-miR-141	CLIP-seq
MIRT977396	hsa-miR-186	CLIP-seq
MIRT977397	hsa-miR-200a	CLIP-seq
MIRT977398	hsa-miR-221	CLIP-seq
MIRT977399	hsa-miR-222	CLIP-seq
MIRT977400	hsa-miR-23a	CLIP-seq
MIRT977401	hsa-miR-23b	CLIP-seq
MIRT977402	hsa-miR-23c	CLIP-seq
MIRT977403	hsa-miR-3133	CLIP-seq
MIRT977404	hsa-miR-3198	CLIP-seq
MIRT977405	hsa-miR-3618	CLIP-seq
MIRT977406	hsa-miR-369-3p	CLIP-seq
MIRT977407	hsa-miR-374a	CLIP-seq
MIRT977408	hsa-miR-374b	CLIP-seq
MIRT977409	hsa-miR-4279	CLIP-seq
MIRT977410	hsa-miR-4309	CLIP-seq
MIRT977411	hsa-miR-448	CLIP-seq
MIRT977412	hsa-miR-4493	CLIP-seq
MIRT977413	hsa-miR-4653-3p	CLIP-seq
MIRT977414	hsa-miR-4705	CLIP-seq
MIRT977415	hsa-miR-4717-3p	CLIP-seq
MIRT977416	hsa-miR-4760-3p	CLIP-seq
MIRT977417	hsa-miR-548v	CLIP-seq
MIRT977418	hsa-miR-582-5p	CLIP-seq
MIRT977419	hsa-miR-633	CLIP-seq
MIRT1989654	hsa-miR-1587	CLIP-seq
MIRT1989655	hsa-miR-3140-5p	CLIP-seq
MIRT1989656	hsa-miR-3671	CLIP-seq
MIRT1989657	hsa-miR-4492	CLIP-seq
MIRT1989658	hsa-miR-4498	CLIP-seq
MIRT1989659	hsa-miR-4656	CLIP-seq
MIRT1989660	hsa-miR-4675	CLIP-seq
MIRT1989661	hsa-miR-4741	CLIP-seq
MIRT1989662	hsa-miR-762	CLIP-seq
MIRT977393	hsa-miR-1283	CLIP-seq
MIRT2223972	hsa-miR-129-5p	CLIP-seq
MIRT2223973	hsa-miR-3152-5p	CLIP-seq
MIRT2223974	hsa-miR-3156-3p	CLIP-seq
MIRT977405	hsa-miR-3618	CLIP-seq
MIRT2223975	hsa-miR-3657	CLIP-seq
MIRT2223976	hsa-miR-3659	CLIP-seq
MIRT977406	hsa-miR-369-3p	CLIP-seq
MIRT977407	hsa-miR-374a	CLIP-seq
MIRT977408	hsa-miR-374b	CLIP-seq
MIRT977409	hsa-miR-4279	CLIP-seq
MIRT2223977	hsa-miR-4301	CLIP-seq
MIRT2223978	hsa-miR-4658	CLIP-seq
MIRT2223979	hsa-miR-4774-3p	CLIP-seq
MIRT2223980	hsa-miR-574-5p	CLIP-seq
MIRT977419	hsa-miR-633	CLIP-seq
MIRT2527891	hsa-miR-543	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0017076	Function	Purine nucleotide binding	NAS	10843801

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q9NRY5
• Protein name: Protein FAM114A2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05334	DUF719	80 → 247	Protein of unknown function (DUF719)	Family

• Sequence:

  MSDKDDIETPLLTEAAPILEDGNCEPAKNSESVDQGAKPESKSEPVVSTRKRPETKPSSD
  LETSKVLPIQDNVSKDVPQTRWGYWGSWGKSILSSASATVATVGQGISNVIEKAETSLGI
  PGPSEISTEVKYVAGETNAKENENSSPVAGAFGVFSTISTAVQSTGKSVISGGLDALEFI
  GKKTMDVIAEGDPGFKRTKGLMNRNATLSQVLREAKEKEEIRTSNEVTVETDKKTHYGLL
  FDEFQGLSHLEALEMLSQESEIKVKSILNSLSGEELETLKVELEQLKETFSLAEFCEEEE
  EEKKGDEDFTKDITELFSQLHVSSKPEKLARARNTAHEWIRKSLTKPLAENEEGEKQSEA
  ENTEQVNKNSIEDIHAFAIRSLAELTACSIELFHKTAALVLHGRKQEVTAIERSQTLSQM
  TIVLCKELSSLSKEFTTCLTTAGVKEMADVLNPLITAVFLEASNSASYIQDAFQLLLPVL
  EISLIENKIESHRHELQGQKPLLEH

• Sequence length: 505

Pathways

Reactome:

Signaling by BRAF and RAF fusions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30468480	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34380996	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30468480		★☆☆☆☆ Found in Text Mining only