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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	81545
Gene name	F-box protein 38
Gene symbol	FBXO38
Synonyms (NCBI Gene)	Fbx38HMN2DHMND6MOKASP329
Chromosome	5
Chromosome location	5q32
Summary	This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in indivi

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142117467	C>A,T	Likely-benign, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs150893158	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs398122838	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant

Show/Hide all (34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046032	hsa-miR-125b-5p	CLASH	23622248
MIRT992276	hsa-miR-3065-5p	CLIP-seq
MIRT992277	hsa-miR-3613-3p	CLIP-seq
MIRT992278	hsa-miR-376c	CLIP-seq
MIRT992279	hsa-miR-421	CLIP-seq
MIRT992280	hsa-miR-4259	CLIP-seq
MIRT992281	hsa-miR-431	CLIP-seq
MIRT992282	hsa-miR-4312	CLIP-seq
MIRT992283	hsa-miR-4694-5p	CLIP-seq
MIRT992284	hsa-miR-4709-5p	CLIP-seq
MIRT992285	hsa-miR-4715-5p	CLIP-seq
MIRT992286	hsa-miR-494	CLIP-seq
MIRT992287	hsa-miR-511	CLIP-seq
MIRT992278	hsa-miR-376c	CLIP-seq
MIRT992281	hsa-miR-431	CLIP-seq
MIRT992282	hsa-miR-4312	CLIP-seq
MIRT992286	hsa-miR-494	CLIP-seq
MIRT992287	hsa-miR-511	CLIP-seq
MIRT992276	hsa-miR-3065-5p	CLIP-seq
MIRT992277	hsa-miR-3613-3p	CLIP-seq
MIRT992276	hsa-miR-3065-5p	CLIP-seq
MIRT992277	hsa-miR-3613-3p	CLIP-seq
MIRT2532169	hsa-miR-3126-5p	CLIP-seq
MIRT2532170	hsa-miR-3173-3p	CLIP-seq
MIRT2532171	hsa-miR-3978	CLIP-seq
MIRT2532172	hsa-miR-4779	CLIP-seq
MIRT2532173	hsa-miR-765	CLIP-seq
MIRT2532174	hsa-miR-875-3p	CLIP-seq
MIRT2680888	hsa-miR-1299	CLIP-seq
MIRT2680889	hsa-miR-3664-5p	CLIP-seq
MIRT2680890	hsa-miR-4261	CLIP-seq
MIRT2680891	hsa-miR-4714-5p	CLIP-seq
MIRT2680892	hsa-miR-587	CLIP-seq
MIRT2532174	hsa-miR-875-3p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002841	Process	Negative regulation of T cell mediated immune response to tumor cell	IDA	37208329, 38377992
GO:0002842	Process	Positive regulation of T cell mediated immune response to tumor cell	IDA	30487606
GO:0005515	Function	Protein binding	IPI	30487606
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24207122
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24207122
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IDA	24207122
GO:0016567	Process	Protein ubiquitination	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	TAS	30487606
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	30487606
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	37534934
GO:0050868	Process	Negative regulation of T cell activation	IDA	38377992
GO:0050870	Process	Positive regulation of T cell activation	IDA	30487606
GO:0070936	Process	Protein K48-linked ubiquitination	IBA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	30487606
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	30487606

MIM	HGNC	e!Ensembl
608533	28844	ENSG00000145868

Q6PIJ6

Protein name

F-box only protein 38

Protein function

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity (PubMed:3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00646	F-box	29 → 66	F-box domain	Domain

Sequence

MGPRKKSVKTCIMNNEIPEEMTADETKDYMNQLSHEVLCHIFRYLPLQDIMCMECLSRKL
KEAVTLYLRVVRVVDLCAGRWWEYMPSGFTDASFLTLLKKMPDVEQLYGLHPRYLERRRV
RGHEAFSIPGVLEALQACPNLVGVETSHLELVESIWTYMPHVHILGKFRNRNGAFPIPPE
NKLKIPIGAKIQTLHLVGVNVPEIPCIPMLRHLYMKWVRLTKPQPFKDFLCISLRTFVMR
NCAGPTNSLKYVPLVTGLASARNLEHLEMVRVPFLGGLIQHVVEDSWRSGGFRNLHTIVL
GACKNALEVDLGYLIITAARRLHEVRIQPSLTKDGVFSALKMAELEFPQFETLHLGYVDE
FLLQSRMANADLVKYGLADVVENPGIITDIGMKAVNEVFSCIKYLAIYNCPHLHNPYNWI
SDHSRWTRLVDINLVRCHALKLDSFGQFIELLPSLEFISLDQMFREPPKGCARVGLSAGT
GIGVSSALVSNQNSNNDDNNAQNNNANIHDNNHHHPDDSDEENDFRQDLQPGEQQFAADA
LNEMEDIVQEDGEVVAESGNNTPAHSQAIIPVDVDEEQAGPSGLQRVVKPTSITVHDSES
DDEEDSLELQEVWIPKNGTRRYSEREEKTGESVQSRELSVSGKGKTPLRKRYNSHQMGQS
KQFPLEESSCEKGCQVTSEQIKADMKAARDIPEKKKNKDVYPSCSSTTASTVGNSSSHNT
ASQSPDFVRTVNSGGSSEPSPTEVDVSRQCACSPGGSEDSEAMEEGDAESSVCPRCCCHR
PQESQRRTSRCSDEERPSTSRACVVNGPDGTRSAFSFRTLPQGGSSGPAHDERTNGSGSG
ATGEDRRGSSQPESCDVQSNEDYPRRPLTRARSRLSHVLLVSESEVAKTKPRHAMKRKRT
ADKSTSTSDPVIEDDHVQVLVLKSKNLVGVTMTNCGITDLVLKDCPKMMFIHATRCRVLK
HLKVENAPIVNRFDYAQCKKLNMDQVLDQILRMPPERNRIIYLRPMQQVDTLTLEQKLFS
GPYPYHICIIHEFSNPPNVRNKVRIRSWMDTIANINQELIKYEFFPEATRSEEDLKKYPK
YPWGREIYTLEGVVDGAPYSMISDFPWLRSLRAAEPNSFARYDFEDDEESTIYAPRRKGQ
LSADICMETIGEEISEMRQMKKGVFQRVVAIFIHYCDVNGEPVEDDYI

Sequence length

1188

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
Distal hereditary motor neuropathy type 2	Pathogenic	rs398122838	RCV002228189	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 2D	Pathogenic	rs762262985, rs398122838	RCV003129579 RCV000077762	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY, TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FBXO38-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 6	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JERASH TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Behcet Syndrome	Behcet disease	Pubtator	31223615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31269066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	26643602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	26643602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	37821621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal hereditary motor neuropathy type 2	Distal Hereditary Motor Neuronopathy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Hereditary Motor Neuropathy, Type II	Distal Hereditary Motor Neuronopathy	ORPHANET_DG	24207122		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	24207122		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	BEFREE	31420593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	24207122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30487606		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID	Neuronopathy	GENOMICS_ENGLAND_DG	24207122		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID	Neuronopathy	CLINVAR_DG	24207122		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID	Neuronopathy	UNIPROT_DG	24207122		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID	Neuronopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31269066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	24207122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy, Jerash type	Spinal Muscular Atrophy	ORPHANET_DG	24207122		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FBXO38 (F-box protein 38)