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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	81545
Gene name Gene Name - the full gene name approved by the HGNC.	F-box protein 38
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FBXO38
Synonyms (NCBI Gene) Gene synonyms aliases	Fbx38, HMN2D, HMND6, MOKA, SP329
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HMND6
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q32
Summary Summary of gene provided in NCBI Entrez Gene.	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(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
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	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	TAS	30487606
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	30487606
GO:0070936	Process	Protein K48-linked ubiquitination	IBA	21873635
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	30487606

MIM	HGNC	e!Ensembl
608533	28844	ENSG00000145868

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Distal hereditary motor neuronopathy	Distal hereditary motor neuropathy type 2, Distal Hereditary Motor Neuropathy, Type II	rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090 View all (57 more)	24207122
Spinal muscular atrophy	Spinal Muscular Atrophy, Spinal muscular atrophy, Jerash type	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361 View all (22 more)	24207122

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Evidence	Source
Unknown
Distal Hereditary Motor Neuronopathy	neuronopathy, distal hereditary motor, type 2D, distal hereditary motor neuropathy type 2		GenCC
Neuropathy	distal hereditary motor neuropathy		GenCC
Ovarian cancer	Ovarian cancer	Conditional KD of IL6 in the OCCA xenograft model delays tumor growth	GWAS, CBGDA
Encephalopathy With Biphasic Seizures And Diffusion	Encephalopathy With Biphasic Seizures And Diffusion		GWAS
Dental caries	Dental caries		GWAS
Renal Carcinoma	Renal Carcinoma		GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Behcet Syndrome	Associate	31223615
Chronic Periodontitis	Associate	26643602
Colitis	Associate	37821621
Heredodegenerative Disorders Nervous System	Associate	34103343
Muscular Atrophy Spinal	Associate	24207122
Neoplasms	Associate	37821621
Pulmonary Disease Chronic Obstructive	Associate	31269066
Spinal Muscular Atrophies of Childhood	Associate	24207122

FBXO38 (F-box protein 38)