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	119559
Gene name	Sideroflexin 4
Gene symbol	SFXN4
Synonyms (NCBI Gene)	BCRM1COXPD18SLC56A4
Chromosome	10
Chromosome location	10q26.11
Summary	This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs367932369	C>T	Pathogenic	Splice donor variant
rs398124642	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs1156283736	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1380193482	C>A,T	Pathogenic	Splice donor variant
rs1554886159	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1589625048	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

124

Show/Hide all (124)

miRTarBase ID	miRNA	Experiments	Reference
MIRT468261	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT468260	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT468259	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT468258	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT468257	hsa-miR-1245a	PAR-CLIP	23592263
MIRT468256	hsa-miR-8079	PAR-CLIP	23592263
MIRT468255	hsa-miR-8062	PAR-CLIP	23592263
MIRT468254	hsa-miR-362-5p	PAR-CLIP	23592263
MIRT468253	hsa-miR-500b-5p	PAR-CLIP	23592263
MIRT468252	hsa-miR-501-5p	PAR-CLIP	23592263
MIRT468251	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT468250	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT468249	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT468248	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT468247	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT468246	hsa-miR-921	PAR-CLIP	23592263
MIRT468245	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT468244	hsa-miR-3672	PAR-CLIP	23592263
MIRT468243	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT468261	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT468260	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT468259	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT468258	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT468257	hsa-miR-1245a	PAR-CLIP	23592263
MIRT468256	hsa-miR-8079	PAR-CLIP	23592263
MIRT468255	hsa-miR-8062	PAR-CLIP	23592263
MIRT468254	hsa-miR-362-5p	PAR-CLIP	23592263
MIRT468253	hsa-miR-500b-5p	PAR-CLIP	23592263
MIRT468252	hsa-miR-501-5p	PAR-CLIP	23592263
MIRT468251	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT468250	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT468249	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT468248	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT468247	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT468246	hsa-miR-921	PAR-CLIP	23592263
MIRT468245	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT468244	hsa-miR-3672	PAR-CLIP	23592263
MIRT468243	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT1342675	hsa-miR-1245	CLIP-seq
MIRT1342676	hsa-miR-128	CLIP-seq
MIRT1342677	hsa-miR-144	CLIP-seq
MIRT1342678	hsa-miR-27a	CLIP-seq
MIRT1342679	hsa-miR-27b	CLIP-seq
MIRT1342680	hsa-miR-3145-5p	CLIP-seq
MIRT1342681	hsa-miR-3194-5p	CLIP-seq
MIRT1342682	hsa-miR-3606	CLIP-seq
MIRT1342683	hsa-miR-4286	CLIP-seq
MIRT1342684	hsa-miR-500b	CLIP-seq
MIRT1342685	hsa-miR-548ac	CLIP-seq
MIRT1342686	hsa-miR-548ae	CLIP-seq
MIRT1342687	hsa-miR-548aj	CLIP-seq
MIRT1342688	hsa-miR-548am	CLIP-seq
MIRT1342689	hsa-miR-548d-3p	CLIP-seq
MIRT1342690	hsa-miR-548x	CLIP-seq
MIRT1342691	hsa-miR-548z	CLIP-seq
MIRT1342692	hsa-miR-766	CLIP-seq
MIRT1342675	hsa-miR-1245	CLIP-seq
MIRT1342676	hsa-miR-128	CLIP-seq
MIRT2621447	hsa-miR-1305	CLIP-seq
MIRT1342677	hsa-miR-144	CLIP-seq
MIRT2621448	hsa-miR-1537	CLIP-seq
MIRT2621449	hsa-miR-185	CLIP-seq
MIRT2621450	hsa-miR-2117	CLIP-seq
MIRT2621451	hsa-miR-2355-5p	CLIP-seq
MIRT1342678	hsa-miR-27a	CLIP-seq
MIRT1342679	hsa-miR-27b	CLIP-seq
MIRT1342680	hsa-miR-3145-5p	CLIP-seq
MIRT2621452	hsa-miR-326	CLIP-seq
MIRT2621453	hsa-miR-330-5p	CLIP-seq
MIRT1342682	hsa-miR-3606	CLIP-seq
MIRT2621454	hsa-miR-3688-5p	CLIP-seq
MIRT2621455	hsa-miR-4254	CLIP-seq
MIRT2621456	hsa-miR-4271	CLIP-seq
MIRT1342683	hsa-miR-4286	CLIP-seq
MIRT2621457	hsa-miR-4306	CLIP-seq
MIRT2621458	hsa-miR-4470	CLIP-seq
MIRT2621459	hsa-miR-4644	CLIP-seq
MIRT2621460	hsa-miR-4667-5p	CLIP-seq
MIRT2621461	hsa-miR-4684-5p	CLIP-seq
MIRT2621462	hsa-miR-4700-5p	CLIP-seq
MIRT2621463	hsa-miR-4725-3p	CLIP-seq
MIRT2621464	hsa-miR-4747-5p	CLIP-seq
MIRT2621465	hsa-miR-490-3p	CLIP-seq
MIRT2621466	hsa-miR-498	CLIP-seq
MIRT1342684	hsa-miR-500b	CLIP-seq
MIRT2621467	hsa-miR-615-5p	CLIP-seq
MIRT2621468	hsa-miR-619	CLIP-seq
MIRT2621469	hsa-miR-637	CLIP-seq
MIRT1342675	hsa-miR-1245	CLIP-seq
MIRT1342676	hsa-miR-128	CLIP-seq
MIRT2621447	hsa-miR-1305	CLIP-seq
MIRT1342677	hsa-miR-144	CLIP-seq
MIRT2621448	hsa-miR-1537	CLIP-seq
MIRT2621449	hsa-miR-185	CLIP-seq
MIRT2621450	hsa-miR-2117	CLIP-seq
MIRT2621451	hsa-miR-2355-5p	CLIP-seq
MIRT1342678	hsa-miR-27a	CLIP-seq
MIRT1342679	hsa-miR-27b	CLIP-seq
MIRT1342680	hsa-miR-3145-5p	CLIP-seq
MIRT2621452	hsa-miR-326	CLIP-seq
MIRT2621453	hsa-miR-330-5p	CLIP-seq
MIRT1342682	hsa-miR-3606	CLIP-seq
MIRT2621454	hsa-miR-3688-5p	CLIP-seq
MIRT2690579	hsa-miR-3914	CLIP-seq
MIRT2621455	hsa-miR-4254	CLIP-seq
MIRT2621456	hsa-miR-4271	CLIP-seq
MIRT1342683	hsa-miR-4286	CLIP-seq
MIRT2621457	hsa-miR-4306	CLIP-seq
MIRT2621458	hsa-miR-4470	CLIP-seq
MIRT2690580	hsa-miR-451	CLIP-seq
MIRT2621459	hsa-miR-4644	CLIP-seq
MIRT2621460	hsa-miR-4667-5p	CLIP-seq
MIRT2621461	hsa-miR-4684-5p	CLIP-seq
MIRT2621462	hsa-miR-4700-5p	CLIP-seq
MIRT2621463	hsa-miR-4725-3p	CLIP-seq
MIRT2621464	hsa-miR-4747-5p	CLIP-seq
MIRT2621465	hsa-miR-490-3p	CLIP-seq
MIRT2621466	hsa-miR-498	CLIP-seq
MIRT1342684	hsa-miR-500b	CLIP-seq
MIRT2621467	hsa-miR-615-5p	CLIP-seq
MIRT2621468	hsa-miR-619	CLIP-seq
MIRT2621469	hsa-miR-637	CLIP-seq
MIRT2690581	hsa-miR-642a	CLIP-seq
MIRT2690582	hsa-miR-873	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	30442778
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006865	Process	Amino acid transport	IEA
GO:0015075	Function	Monoatomic ion transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1990542	Process	Mitochondrial transmembrane transport	IBA

MIM	HGNC	e!Ensembl
615564	16088	ENSG00000183605

Q6P4A7

Protein name

Sideroflexin-4 (Breast cancer resistance marker 1)

Protein function

Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03820	SFXNs	28 → 337	Sideroflexins	Family

Sequence

MSLEQEEETQPGRLLGRRDAVPAFIEPNVRFWITERQSFIRRFLQWTELLDPTNVFISVE
SIENSRQLLCTNEDVSSPASADQRIQEAWKRSLATVHPDSSNLIPKLFRPAAFLPFMAPT
VFLSMTPLKGIKSVILPQVFLCAYMAAFNSINGNRSYTCKPLERSLLMAGAVASSTFLGV
IPQFVQMKYGLTGPWIKRLLPVIFLVQASGMNVYMSRSLESIKGIAVMDKEGNVLGHSRI
AGTKAVRETLASRIVLFGTSALIPEVFTYFFKRTQYFRKNPGSLWILKLSCTVLAMGLMV
PFSFSIFPQIGQIQYCSLEEKIQSPTEETEIFYHRGV

Sequence length

337

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Pathogenic; Likely pathogenic	rs2133612740, rs1380193482, rs1156283736, rs1589625048, rs756173225, rs398124642, rs1554886159, rs367932369	RCV001784965 RCV000578299 RCV000790943 RCV000850600 RCV001330860 RCV000077774 RCV000077775 RCV000077776 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

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.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SFXN4-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Macrocytic	Anemia	BEFREE	24119684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24146633	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	24119684		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	24119684		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24119684		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35333655	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SFXN4 (sideroflexin 4)