FAM53A (family with sequence similarity 53 member A)

Gene

• Entrez ID: 152877
• Gene name: Family with sequence similarity 53 member A
• Gene symbol: FAM53A
• Synonyms (NCBI Gene): DNTNP
• Chromosome: 4
• Chromosome location: 4p16.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT985634	hsa-miR-1915	CLIP-seq
MIRT985635	hsa-miR-3148	CLIP-seq
MIRT985636	hsa-miR-3665	CLIP-seq
MIRT985637	hsa-miR-4436b-3p	CLIP-seq
MIRT985638	hsa-miR-4496	CLIP-seq
MIRT985639	hsa-miR-4529-5p	CLIP-seq
MIRT985640	hsa-miR-4685-5p	CLIP-seq
MIRT985641	hsa-miR-4698	CLIP-seq
MIRT985642	hsa-miR-4715-3p	CLIP-seq
MIRT985643	hsa-miR-4736	CLIP-seq
MIRT985644	hsa-miR-4753-5p	CLIP-seq
MIRT985645	hsa-miR-548a-3p	CLIP-seq
MIRT985646	hsa-miR-548ae	CLIP-seq
MIRT985647	hsa-miR-548aj	CLIP-seq
MIRT985648	hsa-miR-548am	CLIP-seq
MIRT985649	hsa-miR-548e	CLIP-seq
MIRT985650	hsa-miR-548f	CLIP-seq
MIRT985651	hsa-miR-548x	CLIP-seq
MIRT985652	hsa-miR-651	CLIP-seq
MIRT985653	hsa-miR-764	CLIP-seq
MIRT985654	hsa-miR-885-3p	CLIP-seq
MIRT985655	hsa-miR-4728-5p	CLIP-seq
MIRT985656	hsa-miR-602	CLIP-seq
MIRT2449366	hsa-miR-146b-3p	CLIP-seq
MIRT2449367	hsa-miR-3173-5p	CLIP-seq
MIRT2449368	hsa-miR-3664-5p	CLIP-seq
MIRT985636	hsa-miR-3665	CLIP-seq
MIRT2449369	hsa-miR-4292	CLIP-seq
MIRT2449370	hsa-miR-4532	CLIP-seq
MIRT2449371	hsa-miR-4714-5p	CLIP-seq
MIRT985643	hsa-miR-4736	CLIP-seq
MIRT2449372	hsa-miR-486-3p	CLIP-seq
MIRT2449373	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006606	Process	Protein import into nucleus	IBA

Other IDs

• MIM: 617229
• HGNC: 31860
• e!Ensembl: ENSG00000174137

Protein

• UniProt ID: Q6NSI3
• Protein name: Protein FAM53A (Dorsal neural-tube nuclear protein)
• Protein function: May play an important role in neural development; the dorsomedial roof of the third ventricle.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15242	FAM53	1 → 294	Family of FAM53	Family

• Sequence:

  MVTLITEKLQSQSLDDLTCKAEAGPLQYSAETLNKSGRLFPLELNDQSPWKVFSGGPPVR
  SQAATGPDFSFLPGLSAAAHTMGLQWQPQSPRPGAGLGAASTVDPSESTGSSTAPPTKRH
  CRSLSEPEELVRCRSPWRPGSSKVWTPVSKRRCDSGGSATRQGSPGAVLPRSAVWSTGPT
  SPATPRPSSASGGFVDSSEGSAGSGPLWCSAESCLPSTRRRPSLSQERLAGAGTPLPWAS
  SSPTSTPALGGRRGLLRCRSQPCVLSGKRSRRKRRREEDARWTRPSLDFLKMTQTLKNSK
  SLCSLNYEDDDEDDTPVKTVLSSPCDSRGLPGITMPGCSQRGLRTSPVHPNLWASRESVT
  SDGSRRSSGDPRDGDSVGEEGVFPRARWELDLEQIENN

• Sequence length: 398

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
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT URINARY SYSTEM NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	31289104		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28179588, 31799197		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28179588	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	31289104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	28179588, 31799197		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31799197		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37579195	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations