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	26240
Gene name	Family with sequence similarity 50 member B
Gene symbol	FAM50B
Synonyms (NCBI Gene)	D6S2654EX5L
Chromosome	6
Chromosome location	6p25.2
Summary	This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted an

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments
MIRT985609	hsa-miR-103a	CLIP-seq
MIRT985610	hsa-miR-107	CLIP-seq
MIRT985611	hsa-miR-1323	CLIP-seq
MIRT985612	hsa-miR-214	CLIP-seq
MIRT985613	hsa-miR-296-5p	CLIP-seq
MIRT985614	hsa-miR-3120-3p	CLIP-seq
MIRT985615	hsa-miR-3120-5p	CLIP-seq
MIRT985616	hsa-miR-3173-3p	CLIP-seq
MIRT985617	hsa-miR-3619-5p	CLIP-seq
MIRT985618	hsa-miR-3622b-5p	CLIP-seq
MIRT985619	hsa-miR-3660	CLIP-seq
MIRT985620	hsa-miR-3688-5p	CLIP-seq
MIRT985621	hsa-miR-3908	CLIP-seq
MIRT985622	hsa-miR-4291	CLIP-seq
MIRT985623	hsa-miR-4526	CLIP-seq
MIRT985624	hsa-miR-4645-3p	CLIP-seq
MIRT985625	hsa-miR-4672	CLIP-seq
MIRT985626	hsa-miR-4695-5p	CLIP-seq
MIRT985627	hsa-miR-485-5p	CLIP-seq
MIRT985628	hsa-miR-545	CLIP-seq
MIRT985629	hsa-miR-548o	CLIP-seq
MIRT985630	hsa-miR-629	CLIP-seq
MIRT985631	hsa-miR-761	CLIP-seq
MIRT985632	hsa-miR-765	CLIP-seq
MIRT985633	hsa-miR-922	CLIP-seq
MIRT1992160	hsa-miR-3691-3p	CLIP-seq
MIRT1992161	hsa-miR-3942-5p	CLIP-seq
MIRT1992162	hsa-miR-4703-5p	CLIP-seq
MIRT985628	hsa-miR-545	CLIP-seq
MIRT1992160	hsa-miR-3691-3p	CLIP-seq
MIRT2226193	hsa-miR-4733-3p	CLIP-seq
MIRT985628	hsa-miR-545	CLIP-seq
MIRT2449362	hsa-miR-134	CLIP-seq
MIRT2449363	hsa-miR-3118	CLIP-seq
MIRT2449364	hsa-miR-3675-5p	CLIP-seq
MIRT2449365	hsa-miR-4299	CLIP-seq
MIRT2449362	hsa-miR-134	CLIP-seq
MIRT2449363	hsa-miR-3118	CLIP-seq
MIRT2449364	hsa-miR-3675-5p	CLIP-seq
MIRT2449365	hsa-miR-4299	CLIP-seq
MIRT985609	hsa-miR-103a	CLIP-seq
MIRT985610	hsa-miR-107	CLIP-seq
MIRT985612	hsa-miR-214	CLIP-seq
MIRT985613	hsa-miR-296-5p	CLIP-seq
MIRT985617	hsa-miR-3619-5p	CLIP-seq
MIRT985620	hsa-miR-3688-5p	CLIP-seq
MIRT985621	hsa-miR-3908	CLIP-seq
MIRT985622	hsa-miR-4291	CLIP-seq
MIRT985624	hsa-miR-4645-3p	CLIP-seq
MIRT2529981	hsa-miR-510	CLIP-seq
MIRT2529982	hsa-miR-512-5p	CLIP-seq
MIRT985628	hsa-miR-545	CLIP-seq
MIRT985631	hsa-miR-761	CLIP-seq
MIRT985633	hsa-miR-922	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19060904, 21516116, 25416956, 25910212, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IBA
GO:0030496	Component	Midbody	IDA
GO:0045171	Component	Intercellular bridge	IDA

MIM	HGNC	e!Ensembl
614686	18789	ENSG00000145945

Q9Y247

Protein name

Protein FAM50B (Protein XAP-5-like)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04921	XAP5	72 → 324	XAP5, circadian clock regulator	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Mostly abundant in testis and adult and fetal brain.

Sequence

MAQYKGTMREAGRAMHLLKKRERQREQMEVLKQRIAEETILKSQVDKRFSAHYDAVEAEL
KSSTVGLVTLNDMKARQEALVRERERQLAKRQHLEEQRLQQERQREQEQRRERKRKISCL
SFALDDLDDQADAAEARRAGNLGKNPDVDTSFLPDRDREEEENRLREELRQEWEAQREKV
KDEEMEVTFSYWDGSGHRRTVRVRKGNTVQQFLKKALQGLRKDFLELRSAGVEQLMFIKE
DLILPHYHTFYDFIIARARGKSGPLFSFDVHDDVRLLSDATMEKDESHAGKVVLRSWYEK
NKHIFPASRWEAYDPEKKWDKYTIR

Sequence length

325

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 Unknown Diseases (2)

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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	BEFREE	26804237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	21421564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31395792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36017582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	21421564		★★★★★ ★☆☆☆☆ Found in Text Mining only

FAM50B (family with sequence similarity 50 member B)