Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9130
Gene name	Family with sequence similarity 50 member A
Gene symbol	FAM50A
Synonyms (NCBI Gene)	9FDXS9928EHXC-26HXC26MRXSAXAP5
Chromosome	X
Chromosome location	Xq28
Summary	This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional

150

Show/Hide all (150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041512	hsa-miR-193b-3p	CLASH	23622248
MIRT038815	hsa-miR-93-3p	CLASH	23622248
MIRT985593	hsa-miR-1197	CLIP-seq
MIRT985594	hsa-miR-1207-5p	CLIP-seq
MIRT985595	hsa-miR-1286	CLIP-seq
MIRT985596	hsa-miR-186	CLIP-seq
MIRT985597	hsa-miR-1909	CLIP-seq
MIRT985598	hsa-miR-3148	CLIP-seq
MIRT985599	hsa-miR-3688-5p	CLIP-seq
MIRT985600	hsa-miR-3978	CLIP-seq
MIRT985601	hsa-miR-4274	CLIP-seq
MIRT985602	hsa-miR-4422	CLIP-seq
MIRT985603	hsa-miR-4436a	CLIP-seq
MIRT985604	hsa-miR-4688	CLIP-seq
MIRT985605	hsa-miR-4704-3p	CLIP-seq
MIRT985606	hsa-miR-4736	CLIP-seq
MIRT985607	hsa-miR-4763-3p	CLIP-seq
MIRT985608	hsa-miR-486-3p	CLIP-seq
MIRT985593	hsa-miR-1197	CLIP-seq
MIRT985594	hsa-miR-1207-5p	CLIP-seq
MIRT985595	hsa-miR-1286	CLIP-seq
MIRT985596	hsa-miR-186	CLIP-seq
MIRT985597	hsa-miR-1909	CLIP-seq
MIRT985598	hsa-miR-3148	CLIP-seq
MIRT985599	hsa-miR-3688-5p	CLIP-seq
MIRT985600	hsa-miR-3978	CLIP-seq
MIRT985601	hsa-miR-4274	CLIP-seq
MIRT1992159	hsa-miR-4420	CLIP-seq
MIRT985602	hsa-miR-4422	CLIP-seq
MIRT985603	hsa-miR-4436a	CLIP-seq
MIRT985604	hsa-miR-4688	CLIP-seq
MIRT985605	hsa-miR-4704-3p	CLIP-seq
MIRT985606	hsa-miR-4736	CLIP-seq
MIRT985607	hsa-miR-4763-3p	CLIP-seq
MIRT985608	hsa-miR-486-3p	CLIP-seq
MIRT985593	hsa-miR-1197	CLIP-seq
MIRT985594	hsa-miR-1207-5p	CLIP-seq
MIRT2226186	hsa-miR-1254	CLIP-seq
MIRT985595	hsa-miR-1286	CLIP-seq
MIRT985596	hsa-miR-186	CLIP-seq
MIRT985597	hsa-miR-1909	CLIP-seq
MIRT2226187	hsa-miR-22	CLIP-seq
MIRT2226188	hsa-miR-3116	CLIP-seq
MIRT985598	hsa-miR-3148	CLIP-seq
MIRT985599	hsa-miR-3688-5p	CLIP-seq
MIRT985600	hsa-miR-3978	CLIP-seq
MIRT2226189	hsa-miR-4325	CLIP-seq
MIRT1992159	hsa-miR-4420	CLIP-seq
MIRT985603	hsa-miR-4436a	CLIP-seq
MIRT985604	hsa-miR-4688	CLIP-seq
MIRT985606	hsa-miR-4736	CLIP-seq
MIRT985607	hsa-miR-4763-3p	CLIP-seq
MIRT985608	hsa-miR-486-3p	CLIP-seq
MIRT2226190	hsa-miR-550a	CLIP-seq
MIRT2226191	hsa-miR-646	CLIP-seq
MIRT2226192	hsa-miR-661	CLIP-seq
MIRT985593	hsa-miR-1197	CLIP-seq
MIRT985595	hsa-miR-1286	CLIP-seq
MIRT985596	hsa-miR-186	CLIP-seq
MIRT2226187	hsa-miR-22	CLIP-seq
MIRT985598	hsa-miR-3148	CLIP-seq
MIRT985600	hsa-miR-3978	CLIP-seq
MIRT2226189	hsa-miR-4325	CLIP-seq
MIRT985603	hsa-miR-4436a	CLIP-seq
MIRT2387857	hsa-miR-4462	CLIP-seq
MIRT2226191	hsa-miR-646	CLIP-seq
MIRT985593	hsa-miR-1197	CLIP-seq
MIRT985594	hsa-miR-1207-5p	CLIP-seq
MIRT2226186	hsa-miR-1254	CLIP-seq
MIRT985595	hsa-miR-1286	CLIP-seq
MIRT2529960	hsa-miR-1289	CLIP-seq
MIRT985596	hsa-miR-186	CLIP-seq
MIRT985597	hsa-miR-1909	CLIP-seq
MIRT2226187	hsa-miR-22	CLIP-seq
MIRT2226188	hsa-miR-3116	CLIP-seq
MIRT2529961	hsa-miR-3126-5p	CLIP-seq
MIRT985598	hsa-miR-3148	CLIP-seq
MIRT2529962	hsa-miR-3150b-3p	CLIP-seq
MIRT2529963	hsa-miR-3160-3p	CLIP-seq
MIRT2529964	hsa-miR-3198	CLIP-seq
MIRT2529965	hsa-miR-3622b-5p	CLIP-seq
MIRT2529966	hsa-miR-3656	CLIP-seq
MIRT985599	hsa-miR-3688-5p	CLIP-seq
MIRT985600	hsa-miR-3978	CLIP-seq
MIRT2529967	hsa-miR-4254	CLIP-seq
MIRT985601	hsa-miR-4274	CLIP-seq
MIRT2529968	hsa-miR-4294	CLIP-seq
MIRT2529969	hsa-miR-4300	CLIP-seq
MIRT2529970	hsa-miR-4309	CLIP-seq
MIRT2226189	hsa-miR-4325	CLIP-seq
MIRT2529971	hsa-miR-4419a	CLIP-seq
MIRT1992159	hsa-miR-4420	CLIP-seq
MIRT985602	hsa-miR-4422	CLIP-seq
MIRT985603	hsa-miR-4436a	CLIP-seq
MIRT2529972	hsa-miR-4449	CLIP-seq
MIRT2387857	hsa-miR-4462	CLIP-seq
MIRT2529973	hsa-miR-4510	CLIP-seq
MIRT985604	hsa-miR-4688	CLIP-seq
MIRT2529974	hsa-miR-4689	CLIP-seq
MIRT985605	hsa-miR-4704-3p	CLIP-seq
MIRT2529975	hsa-miR-4720-5p	CLIP-seq
MIRT985606	hsa-miR-4736	CLIP-seq
MIRT985607	hsa-miR-4763-3p	CLIP-seq
MIRT2529976	hsa-miR-4783-3p	CLIP-seq
MIRT2529977	hsa-miR-4784	CLIP-seq
MIRT2529978	hsa-miR-4799-3p	CLIP-seq
MIRT985608	hsa-miR-486-3p	CLIP-seq
MIRT2226190	hsa-miR-550a	CLIP-seq
MIRT2226191	hsa-miR-646	CLIP-seq
MIRT2226192	hsa-miR-661	CLIP-seq
MIRT2529979	hsa-miR-920	CLIP-seq
MIRT2529980	hsa-miR-939	CLIP-seq
MIRT985593	hsa-miR-1197	CLIP-seq
MIRT985594	hsa-miR-1207-5p	CLIP-seq
MIRT2226186	hsa-miR-1254	CLIP-seq
MIRT985595	hsa-miR-1286	CLIP-seq
MIRT985596	hsa-miR-186	CLIP-seq
MIRT985597	hsa-miR-1909	CLIP-seq
MIRT2226187	hsa-miR-22	CLIP-seq
MIRT2226188	hsa-miR-3116	CLIP-seq
MIRT2529961	hsa-miR-3126-5p	CLIP-seq
MIRT985598	hsa-miR-3148	CLIP-seq
MIRT2529962	hsa-miR-3150b-3p	CLIP-seq
MIRT2529963	hsa-miR-3160-3p	CLIP-seq
MIRT2529965	hsa-miR-3622b-5p	CLIP-seq
MIRT985599	hsa-miR-3688-5p	CLIP-seq
MIRT985600	hsa-miR-3978	CLIP-seq
MIRT985601	hsa-miR-4274	CLIP-seq
MIRT2529969	hsa-miR-4300	CLIP-seq
MIRT2226189	hsa-miR-4325	CLIP-seq
MIRT2529971	hsa-miR-4419a	CLIP-seq
MIRT1992159	hsa-miR-4420	CLIP-seq
MIRT985602	hsa-miR-4422	CLIP-seq
MIRT985603	hsa-miR-4436a	CLIP-seq
MIRT2387857	hsa-miR-4462	CLIP-seq
MIRT2529973	hsa-miR-4510	CLIP-seq
MIRT985604	hsa-miR-4688	CLIP-seq
MIRT2529974	hsa-miR-4689	CLIP-seq
MIRT985605	hsa-miR-4704-3p	CLIP-seq
MIRT2529975	hsa-miR-4720-5p	CLIP-seq
MIRT985606	hsa-miR-4736	CLIP-seq
MIRT985607	hsa-miR-4763-3p	CLIP-seq
MIRT2529977	hsa-miR-4784	CLIP-seq
MIRT2529978	hsa-miR-4799-3p	CLIP-seq
MIRT985608	hsa-miR-486-3p	CLIP-seq
MIRT2226190	hsa-miR-550a	CLIP-seq
MIRT2226191	hsa-miR-646	CLIP-seq
MIRT2226192	hsa-miR-661	CLIP-seq
MIRT2529979	hsa-miR-920	CLIP-seq
MIRT2529980	hsa-miR-939	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	32703943
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	32703943
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9339379
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0007283	Process	Spermatogenesis	NAS	10534398
GO:0008380	Process	RNA splicing	IEA
GO:0043484	Process	Regulation of RNA splicing	IMP	32703943

MIM	HGNC	e!Ensembl
300453	18786	ENSG00000071859

Q14320

Protein name

Protein FAM50A (Protein HXC-26) (Protein XAP-5)

Protein function

Probably involved in the regulation of pre-mRNA splicing.

PDB

8C6J , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04921	XAP5	110 → 338	XAP5, circadian clock regulator	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine. Expressed in fetal cer

Sequence

MAQYKGAASEAGRAMHLMKKREKQREQMEQMKQRIAEENIMKSNIDKKFSAHYDAVEAEL
KSSTVGLVTLNDMKAKQEALVKEREKQLAKKEQSKELQMKLEKLREKERKKEAKRKISSL
SFTLEEEEEGGEEEEEAAMYEEEMEREEITTKKRKLGKNPDVDTSFLPDRDREEEENRLR
EELRQEWEAKQEKIKSEEIEITFSYWDGSGHRRTVKMRKGNTMQQFLQKALEILRKDFSE
LRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARGKSGPLFNFDVHDDVRLLSDATVEKDE
SHAGKVVLRSWYEKNKHIFPASRWEPYDPEKKWDKYTIR

Sequence length

339

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Armfield syndrome	Likely pathogenic	rs2068797192, rs2068797171, rs2068797150	RCV001254882 RCV001254886 RCV001254884	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2068797192	RCV001093615	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
FAM50A-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY ARMFIELD TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Armfield X Linked Mental Retardation Syndrome	Associate	33498634	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Associate	26390436	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	23181716	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	27060156	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 7	Associate	33498634	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23181716	★★★★★ ★☆☆☆☆ Found in Text Mining only

FAM50A (family with sequence similarity 50 member A)