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	118426
Gene name	BLOC-1 related complex subunit 5
Gene symbol	BORCS5
Synonyms (NCBI Gene)	LOH12CR1LOH1CR12
Chromosome	12
Chromosome location	12p13.2

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555155556	G>T	Likely-pathogenic	Splice acceptor variant

Show/Hide all (67)

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
MIRT664010	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT664009	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT664008	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT664007	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT664006	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT664005	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT614361	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT614360	hsa-miR-764	HITS-CLIP	23824327
MIRT614359	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT614358	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT637611	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT637610	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614357	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT614356	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT614355	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT614354	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT614353	hsa-miR-6128	HITS-CLIP	23824327
MIRT614352	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT614351	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT614350	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT614349	hsa-miR-1299	HITS-CLIP	23824327
MIRT614348	hsa-miR-640	HITS-CLIP	23824327
MIRT614361	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT614360	hsa-miR-764	HITS-CLIP	23824327
MIRT614359	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT614358	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT637611	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT637610	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614357	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT614356	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT614355	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT614354	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT614353	hsa-miR-6128	HITS-CLIP	23824327
MIRT614352	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT614351	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT614350	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT614349	hsa-miR-1299	HITS-CLIP	23824327
MIRT614348	hsa-miR-640	HITS-CLIP	23824327
MIRT614361	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT614360	hsa-miR-764	HITS-CLIP	23824327
MIRT614359	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT614358	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT614357	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT614356	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT614355	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT614354	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT614353	hsa-miR-6128	HITS-CLIP	23824327
MIRT614352	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT614351	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT614350	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT614349	hsa-miR-1299	HITS-CLIP	23824327
MIRT614348	hsa-miR-640	HITS-CLIP	23824327
MIRT530251	hsa-miR-362-5p	PAR-CLIP	22012620
MIRT530250	hsa-miR-500b-5p	PAR-CLIP	22012620
MIRT530249	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT530248	hsa-miR-5196-3p	PAR-CLIP	22012620
MIRT530247	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT530246	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT530245	hsa-miR-205-5p	PAR-CLIP	22012620
MIRT530244	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT530243	hsa-miR-7108-5p	PAR-CLIP	22012620
MIRT530242	hsa-miR-4474-3p	PAR-CLIP	22012620

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25898167, 32296183, 32814053
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005873	Component	Plus-end kinesin complex	IDA	25898167
GO:0005886	Component	Plasma membrane	IDA
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IMP	25898167
GO:0030424	Component	Axon	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0032418	Process	Lysosome localization	IBA
GO:0032418	Process	Lysosome localization	IEA
GO:0032418	Process	Lysosome localization	IMP	25898167
GO:0032418	Process	Lysosome localization	NAS	25898167
GO:0051036	Process	Regulation of endosome size	NAS	31314175
GO:0062196	Process	Regulation of lysosome size	NAS	31314175
GO:0072384	Process	Organelle transport along microtubule	IBA
GO:0072384	Process	Organelle transport along microtubule	IEA
GO:0072384	Process	Organelle transport along microtubule	IMP	25898167
GO:0072384	Process	Organelle transport along microtubule	NAS	25898167
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	IBA
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	IMP	25898167
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	NAS	25898167
GO:0099078	Component	BORC complex	IBA
GO:0099078	Component	BORC complex	IDA	25898167
GO:0099078	Component	BORC complex	IPI	25898167
GO:1903744	Process	Positive regulation of anterograde synaptic vesicle transport	IBA

MIM	HGNC	e!Ensembl
616598	17950	ENSG00000165714

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

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (at protein level). {ECO:0000269|PubMed:11896457, ECO:0000269|PubMed:25898167}.

Sequence

MGSEQSSEAESRPNDLNSSVTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIP
TFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKE
MDLSVETLFSFMQERQKRYAKYAEQIQKVNEMSAILRRIQMGIDQTVPLLDRLNSMLPEG
ERLEPFSMKPDRELRL

Sequence length

196

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 Unknown Diseases (11)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29879888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34996992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31488873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	29879888, 31488873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	34135559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BORCS5 (BLOC-1 related complex subunit 5)