Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91137
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 46
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A46
Synonyms (NCBI Gene) Gene synonyms aliases
HMSN6B, PCH1E
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HMSN6B, PCH1E
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs149585060 A>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs200725073 G>A,T Pathogenic Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs202123515 C>A,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs746681765 C>A,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs751900293 C>T Uncertain-significance, likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027893 hsa-miR-96-5p Sequencing 20371350
MIRT037734 hsa-miR-744-5p CLASH 23622248
MIRT646632 hsa-miR-590-3p HITS-CLIP 23824327
MIRT646631 hsa-miR-2355-5p HITS-CLIP 23824327
MIRT646629 hsa-miR-6875-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26168012, 32296183
GO:0005739 Component Mitochondrion IDA
GO:0005741 Component Mitochondrial outer membrane IDA 26168012
GO:0016021 Component Integral component of membrane IEA
GO:0090149 Process Mitochondrial membrane fission IDA 26168012
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610826 25198 ENSG00000164209
Protein
UniProt ID Q96AG3
Protein name Mitochondrial outer membrane protein SLC25A46 (Solute carrier family 25 member 46)
Protein function Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization (PubMed:26168012, PubMed:27390132, PubMed:27543974). May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing sys
PDB 8TMU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 311 417 Mitochondrial carrier protein Family
Sequence
MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVTTPPDIPGSRNLHWGEK
SPPYGVPTTSTPYEGPTEEPFSSGGGGSVQGQSSEQLNRFAGFGIGLASLFTENVLAHPC
IVLRRQCQVNYHAQHYHLTPFTVINIMYSFNKTQGPRALWKGMGSTFIVQGVTLGAEGII
SEFTPLPREVLHKWSPKQIGEHLLLKSLTYVVAMPFYSASLIETVQSEIIRDNTGILECV
KEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHYIISSVIQKFVLLILKRKTYNSHLA
ESTSPVQSMLDAYFPELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVL
PINTQYEGMRDCINTIRQEEGVFGFYKGFGAVIIQYTLHAAVLQITKIIYSTLLQNN
I
Sequence length 418
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Charcot-marie-tooth disease Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease, Type Ia (disorder), Charcot-Marie-Tooth Disease, Type Ib rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
26168012
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Dysautonomia Hereditary Motor and Sensory-Neuropathy Type II rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
26168012
Hereditary motor and sensory neuropathy Hereditary Motor and Sensory Neuropathy Type I, Hereditary motor and sensory neuropathy type 6 rs1555365597, rs387906941, rs207482230, rs587778791, rs587778798, rs587777108, rs587780564, rs587777789, rs1566733927 26168012
Unknown
Disease term Disease name Evidence References Source
Cerebellar Hypoplasia pontocerebellar hypoplasia, type 1E GenCC
Leigh Syndrome Leigh syndrome GenCC
Pontoneocerebellar hypoplasia pontocerebellar hypoplasia type 1 GenCC
Hereditary Motor And Sensory Neuropathy hereditary motor and sensory neuropathy type 6 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 33878365
Ataxia Associate 30178502
Cerebellar Ataxia Associate 28558379
Cerebellar Diseases Associate 33985528
Charcot Marie Tooth disease X linked recessive 2 Associate 28558379
Eye Abnormalities Associate 28558379
Fused Kidney Associate 33985528
Leigh Disease Associate 27390132
Mitochondrial Diseases Associate 27390132, 33985528
Neurodegenerative Diseases Associate 27390132, 30178502, 36977595