GediPNet logo

BORCS5 (BLOC-1 related complex subunit 5)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
118426
Gene nameGene Name - the full gene name approved by the HGNC.
BLOC-1 related complex subunit 5
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BORCS5
SynonymsGene synonyms aliases
LOH12CR1, LOH1CR12
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.2
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs1555155556 G>T Likely-pathogenic Splice acceptor variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT664015 hsa-miR-10a-5p HITS-CLIP 23824327
MIRT664014 hsa-miR-10b-5p HITS-CLIP 23824327
MIRT664013 hsa-miR-339-5p HITS-CLIP 23824327
MIRT664012 hsa-miR-4421 HITS-CLIP 23824327
MIRT664011 hsa-miR-5699-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 25898167, 32296183, 32814053
GO:0005873 Component Plus-end kinesin complex IBA 21873635
GO:0005873 Component Plus-end kinesin complex IDA 25898167
GO:0005886 Component Plasma membrane IDA
GO:0030672 Component Synaptic vesicle membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q969J3
Protein name BLOC-1-related complex subunit 5 (Loss of heterozygosity 12 chromosomal region 1) (Myristoylated lysosomal protein) (Myrlysin)
Protein function As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed k
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10158 LOH1CR12
61 → 191
Tumour suppressor protein
 Family
Sequence
Sequence length 196
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Polymicrogyria Polymicrogyria rs1558010146, rs1558003446, rs1575508937

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412