FAM83E (family with sequence similarity 83 member E)

Gene

• Entrez ID: 54854
• Gene name: Family with sequence similarity 83 member E
• Gene symbol: FAM83E
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19q13.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440672	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440672	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1992678	hsa-miR-3129-3p	CLIP-seq
MIRT1992679	hsa-miR-4735-5p	CLIP-seq
MIRT2226663	hsa-miR-1207-5p	CLIP-seq
MIRT2226664	hsa-miR-122	CLIP-seq
MIRT2226665	hsa-miR-1256	CLIP-seq
MIRT2226666	hsa-miR-1273f	CLIP-seq
MIRT2226667	hsa-miR-1304	CLIP-seq
MIRT2226668	hsa-miR-130a	CLIP-seq
MIRT2226669	hsa-miR-130b	CLIP-seq
MIRT2226670	hsa-miR-1827	CLIP-seq
MIRT2226671	hsa-miR-2467-3p	CLIP-seq
MIRT2226672	hsa-miR-301a	CLIP-seq
MIRT2226673	hsa-miR-301b	CLIP-seq
MIRT2226674	hsa-miR-3135b	CLIP-seq
MIRT2226675	hsa-miR-3652	CLIP-seq
MIRT2226676	hsa-miR-3663-5p	CLIP-seq
MIRT2226677	hsa-miR-3666	CLIP-seq
MIRT2226678	hsa-miR-3674	CLIP-seq
MIRT2226679	hsa-miR-3714	CLIP-seq
MIRT2226680	hsa-miR-4253	CLIP-seq
MIRT2226681	hsa-miR-4295	CLIP-seq
MIRT2226682	hsa-miR-4423-5p	CLIP-seq
MIRT2226683	hsa-miR-4430	CLIP-seq
MIRT2226684	hsa-miR-454	CLIP-seq
MIRT2226685	hsa-miR-4708-3p	CLIP-seq
MIRT2226686	hsa-miR-4721	CLIP-seq
MIRT2226687	hsa-miR-4732-5p	CLIP-seq
MIRT2226688	hsa-miR-4761-3p	CLIP-seq
MIRT2226689	hsa-miR-4763-3p	CLIP-seq
MIRT2226690	hsa-miR-4781-3p	CLIP-seq
MIRT2226691	hsa-miR-515-5p	CLIP-seq
MIRT2226692	hsa-miR-615-5p	CLIP-seq
MIRT2226693	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29789297
GO:0005737	Component	Cytoplasm	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IPI	24736947
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

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

Protein

• UniProt ID: Q2M2I3
• Protein name: Protein FAM83E
• Protein function: May play a role in MAPK signaling.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07894	FAM83	16 → 290	FAM83 A-H	Family

• Sequence:

  MAASQLAALEGVDSGPRVPGASPGFLYSEGQRLALEALLSKGAEAFQTCVQREELWPFLS
  ADEVQGLAAAAEDWTVAKQEPSGMAEGATTTDVDAGSLSYWPGQSEQPAPVLRLGWPVDS
  AWKGITRAQLYTQPPGEGQPPLKELVRLEIQAAHKLVAVVMDVFTDPDLLLDLVDAATRR
  WVPVYLLLDRQQLPAFLELAQQLGVNPWNTENVDVRVVRGCSFQSRWRRQVSGTVREKFV
  LLDGERVISGSYSFTWSDARLHRGLVTLLTGEIVDAFSLEFRTLYAASCPLPPAPPQKPS
  VIGGLQRGRSPHRVSRRRSVAPASPPPPDGPLAHRLAACRVSPATPGPALSDILRSVQRA
  RTPSGPPARPSRSMWDLSRLSQLSGSSDGDNELKKSWGSKDTPAKALMRQRGTGGGPWGE
  VDSRPPWGGALPLPPAHRLRYLSPARRRFGGDATFKLQEPRGVRPSDWAPRAGLGGQP

• Sequence length: 478

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR CORTICAL ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	33747255	Stimulate	★☆☆☆☆ Found in Text Mining only