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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily B member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCB7
Synonyms (NCBI Gene) Gene synonyms aliases	ABC7, ASAT, Atm1p, EST140535
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq13.3
Summary Summary of gene provided in NCBI Entrez Gene.	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1133577	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs72554634	A>C,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs80356713	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs80356714	C>T	Pathogenic	Coding sequence variant, missense variant
rs515726147	T>A	Pathogenic	Missense variant, coding sequence variant
rs797044558	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1057518042	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555945011	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(80)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019397	hsa-miR-148b-3p	Microarray	17612493
MIRT023677	hsa-miR-1-3p	Proteomics	18668040
MIRT051202	hsa-miR-16-5p	CLASH	23622248
MIRT050748	hsa-miR-17-3p	CLASH	23622248
MIRT050056	hsa-miR-26a-5p	CLASH	23622248
MIRT047592	hsa-miR-10a-5p	CLASH	23622248
MIRT044862	hsa-miR-195-5p	CLASH	23622248
MIRT036642	hsa-miR-935	CLASH	23622248
MIRT650137	hsa-miR-5692a	HITS-CLIP	23824327
MIRT650136	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT650135	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT650133	hsa-miR-4495	HITS-CLIP	23824327
MIRT650134	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT650132	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT650130	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT650131	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT497947	hsa-miR-548a-3p	PAR-CLIP	22291592
MIRT497946	hsa-miR-548ar-3p	PAR-CLIP	22291592
MIRT497945	hsa-miR-548az-3p	PAR-CLIP	22291592
MIRT497944	hsa-miR-548e-3p	PAR-CLIP	22291592
MIRT497943	hsa-miR-548f-3p	PAR-CLIP	22291592
MIRT497942	hsa-miR-5582-3p	PAR-CLIP	22291592
MIRT497941	hsa-miR-548ag	PAR-CLIP	22291592
MIRT497940	hsa-miR-548ai	PAR-CLIP	22291592
MIRT497939	hsa-miR-548ba	PAR-CLIP	22291592
MIRT497938	hsa-miR-570-5p	PAR-CLIP	22291592
MIRT497937	hsa-miR-6814-5p	PAR-CLIP	22291592
MIRT497936	hsa-miR-150-5p	PAR-CLIP	22291592
MIRT497935	hsa-miR-6749-3p	PAR-CLIP	22291592
MIRT650137	hsa-miR-5692a	HITS-CLIP	23824327
MIRT650136	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT650135	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT650133	hsa-miR-4495	HITS-CLIP	23824327
MIRT650134	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT650132	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT650130	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT650131	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT497947	hsa-miR-548a-3p	PAR-CLIP	22291592
MIRT497946	hsa-miR-548ar-3p	PAR-CLIP	22291592
MIRT497945	hsa-miR-548az-3p	PAR-CLIP	22291592
MIRT497944	hsa-miR-548e-3p	PAR-CLIP	22291592
MIRT497943	hsa-miR-548f-3p	PAR-CLIP	22291592
MIRT497942	hsa-miR-5582-3p	PAR-CLIP	22291592
MIRT497941	hsa-miR-548ag	PAR-CLIP	22291592
MIRT497940	hsa-miR-548ai	PAR-CLIP	22291592
MIRT497939	hsa-miR-548ba	PAR-CLIP	22291592
MIRT497938	hsa-miR-570-5p	PAR-CLIP	22291592
MIRT497937	hsa-miR-6814-5p	PAR-CLIP	22291592
MIRT497936	hsa-miR-150-5p	PAR-CLIP	22291592
MIRT497935	hsa-miR-6749-3p	PAR-CLIP	22291592
MIRT758199	hsa-miR-130a	CLIP-seq
MIRT758200	hsa-miR-130b	CLIP-seq
MIRT758201	hsa-miR-148a	CLIP-seq
MIRT758202	hsa-miR-148b	CLIP-seq
MIRT758203	hsa-miR-152	CLIP-seq
MIRT758204	hsa-miR-19a	CLIP-seq
MIRT758205	hsa-miR-19b	CLIP-seq
MIRT758206	hsa-miR-301a	CLIP-seq
MIRT758207	hsa-miR-301b	CLIP-seq
MIRT758208	hsa-miR-3666	CLIP-seq
MIRT758209	hsa-miR-3668	CLIP-seq
MIRT758210	hsa-miR-3977	CLIP-seq
MIRT758211	hsa-miR-4276	CLIP-seq
MIRT758212	hsa-miR-4295	CLIP-seq
MIRT758213	hsa-miR-454	CLIP-seq
MIRT758199	hsa-miR-130a	CLIP-seq
MIRT758200	hsa-miR-130b	CLIP-seq
MIRT758201	hsa-miR-148a	CLIP-seq
MIRT758202	hsa-miR-148b	CLIP-seq
MIRT758203	hsa-miR-152	CLIP-seq
MIRT758204	hsa-miR-19a	CLIP-seq
MIRT758205	hsa-miR-19b	CLIP-seq
MIRT758206	hsa-miR-301a	CLIP-seq
MIRT758207	hsa-miR-301b	CLIP-seq
MIRT758208	hsa-miR-3666	CLIP-seq
MIRT758209	hsa-miR-3668	CLIP-seq
MIRT758210	hsa-miR-3977	CLIP-seq
MIRT758211	hsa-miR-4276	CLIP-seq
MIRT758212	hsa-miR-4295	CLIP-seq
MIRT758213	hsa-miR-454	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25063848
GO:0005524	Function	ATP binding	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006879	Process	Cellular iron ion homeostasis	IBA	21873635
GO:0015232	Function	Heme transmembrane transporter activity	TAS	9621516
GO:0015886	Process	Heme transport	IEA
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016887	Function	ATPase activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS

MIM	HGNC	e!Ensembl
300135	48	ENSG00000131269

Protein

UniProt ID

O75027

Protein name

Iron-sulfur clusters transporter ABCB7, mitochondrial (ATP-binding cassette sub-family B member 7, mitochondrial) (ATP-binding cassette transporter 7) (ABC transporter 7 protein)

Protein function

Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and partici

PDB

7VGF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	140 → 424	ABC transporter transmembrane region	Family
PF00005	ABC_tran	488 → 637	ABC transporter	Domain

Sequence

MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPES
LKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKI
IKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSD
APNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGF
HLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGT
LGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFL
KTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQL
SLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFE
YIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVS
LESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDT
QVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTS
IFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKW
EAKKENISKEEERKKLQEEIVNSVKGCGNCSC

Sequence length

752

Interactions

View interactions

	KEGG		Reactome
	ABC transporters		Mitochondrial ABC transporters

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Microcytic hypochromic anemia (disorder)	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sideroblastic anemia	Sideroblastic anemia	rs763817505	18637800, 16892088
Sideroblastic anemia and spinocerebellar ataxia, x-linked	X-linked sideroblastic anemia and spinocerebellar ataxia	rs72554634, rs80356714, rs80356713, rs515726147, rs1057518042

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Sideroblastic Anemia, X-Linked	X-linked sideroblastic anemia with ataxia	GenCC
Mitochondrial Diseases	mitochondrial disease	GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
Anemia Refractory	Associate	19692701, 23070040
Anemia Sideroblastic	Associate	18398482, 26242992, 34861039, 36028755
Anemia sideroblastic spinocerebellar ataxia	Associate	11050011, 17192393, 18398482, 30765471
Ataxia	Associate	11843825, 26242992
Atrophy	Associate	26242992
Breast Neoplasms	Associate	37905302
Cerebellar Ataxia	Associate	11843825, 26242992
Cerebellar Diseases	Associate	26242992
Cerebellar Hypoplasia	Associate	26242992
Crohn Disease	Inhibit	35872023
Genetic Diseases Inborn	Associate	26242992
Glycogen Storage Disease Type II	Associate	27189384
Iron Deficiencies	Associate	17192393
Iron Overload	Inhibit	30765471
Metabolic Syndrome	Associate	33843278
Mitochondrial Diseases	Associate	17192393, 27211273
Myelodysplastic Syndromes	Associate	27211273, 34861039, 36028755
Neoplasm Metastasis	Associate	36918744
Ring Chromosomes	Associate	18398482, 20408843
Spinocerebellar ataxia X linked 2	Associate	11843825
X linked sideroblastic anemia	Associate	11843825, 20408843, 33157103

ABCB7 (ATP binding cassette subfamily B member 7)