BORCS7

Summary

BORCS7 (BLOC-1 related complex subunit 7, HGNC:23516) is a protein-coding gene on chromosome 10q24.32, encoding BLOC-1-related complex subunit 7 (Q96B45). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery.

Predicted to be involved in organelle transport along microtubule; regulation of endosome size; and regulation of lysosome size. Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex.

Source: NCBI Gene 119032 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001136200

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23516
Approved symbol	BORCS7
Name	BLOC-1 related complex subunit 7
Location	10q24.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ40752
Ensembl gene	ENSG00000166275
Ensembl biotype	protein_coding
OMIM	616600
Entrez	119032

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000339834, ENST00000369883, ENST00000478833, ENST00000878900

RefSeq mRNA: 2 — MANE Select: NM_001136200 NM_001136200, NM_144591

CCDS: CCDS7542

Canonical transcript exons

ENST00000339834 — 5 exons

Exon	Start	End
ENSE00001432461	102862873	102864961
ENSE00001846473	102854259	102854427
ENSE00003481243	102860332	102860394
ENSE00003549423	102860498	102860541
ENSE00003566433	102862160	102862180

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 96.56.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0880 / max 22.1598, expressed in 800 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106774	21.0684	1802
106773	1.0880	800

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.56	gold quality
left ventricle myocardium	UBERON:0006566	96.48	gold quality
kidney epithelium	UBERON:0004819	96.26	gold quality
palpebral conjunctiva	UBERON:0001812	96.19	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.77	gold quality
right adrenal gland	UBERON:0001233	95.65	gold quality
germinal epithelium of ovary	UBERON:0001304	95.59	gold quality
right adrenal gland cortex	UBERON:0035827	95.59	gold quality
bronchial epithelial cell	CL:0002328	95.56	gold quality
left adrenal gland	UBERON:0001234	95.52	gold quality
left adrenal gland cortex	UBERON:0035825	95.43	gold quality
adrenal cortex	UBERON:0001235	95.34	gold quality
parietal pleura	UBERON:0002400	95.25	gold quality
bronchus	UBERON:0002185	95.02	gold quality
adrenal gland	UBERON:0002369	94.98	gold quality
endothelial cell	CL:0000115	94.72	gold quality
tibialis anterior	UBERON:0001385	94.23	gold quality
deltoid	UBERON:0001476	94.16	gold quality
tibia	UBERON:0000979	93.83	gold quality
ileal mucosa	UBERON:0000331	93.72	gold quality
skin of hip	UBERON:0001554	93.11	gold quality
layer of synovial tissue	UBERON:0007616	93.11	gold quality
visceral pleura	UBERON:0002401	93.10	gold quality
upper arm skin	UBERON:0004263	93.05	gold quality
quadriceps femoris	UBERON:0001377	92.99	gold quality
myocardium	UBERON:0002349	92.88	gold quality
vastus lateralis	UBERON:0001379	92.73	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.72	gold quality
superficial temporal artery	UBERON:0001614	92.43	gold quality
right lobe of liver	UBERON:0001114	92.29	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	19.36
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting BORCS7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4729	99.69	72.18	4233

Literature-anchored findings (GeneRIF, showing 5)

• this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus (PMID:27004590)
• Risk alleles spanning multiple genes across the 10q24.32 schizophrenia-related locus are associated in the human brain selectively with an increase in the expression of both BLOC-1 related complex subunit 7 (BORCS7) and a previously uncharacterized, human-specific arsenite methyltransferase (AS3MT) isoform (AS3MTd2d3). (PMID:27158905)
• Sngle nucleotide polymorphism in c10orf32 gene is associated with skin lesions. (PMID:27692299)
• effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: a PET imaging study (PMID:31386983)
• BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. (PMID:36717601)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	borcs7	ENSDARG00000055070
mus_musculus	Borcs7	ENSMUSG00000062376
rattus_norvegicus	Borcs7	ENSRNOG00000073762
drosophila_melanogaster	BORCS7	FBGN0034519
caenorhabditis_elegans		WBGENE00010981

Protein

Protein identifiers

BLOC-1-related complex subunit 7 — Q96B45 (reviewed: Q96B45)

Alternative names: Diaskedin

All UniProt accessions (1): Q96B45

UniProt curated annotations — full annotation on UniProt →

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 kinesin motor.

Subunit / interactions. Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN.

Subcellular location. Lysosome membrane.

Miscellaneous. Diaskedin is from the ancient Greek diaskedazo, meaning to disperse.

Similarity. Belongs to the BORCS7 family.

RefSeq proteins (2): NP_001129672, NP_653192 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032143	BORCS7	Family

Pfam: PF16088

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96B45-F1	94.84	0.90

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_BEHAVIOR, GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RESPONSE_TO_KETONE, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_CELL_PROJECTION_ORGANIZATION

GO Biological Process (10): vesicle-mediated transport (GO:0016192), lysosome localization (GO:0032418), response to cycloheximide (GO:0046898), neuromuscular process (GO:0050905), regulation of endosome size (GO:0051036), axon development (GO:0061564), motor behavior (GO:0061744), regulation of lysosome size (GO:0062196), organelle transport along microtubule (GO:0072384), walking behavior (GO:0090659)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): cytoplasmic side of lysosomal membrane (GO:0098574), BORC complex (GO:0099078), lysosome (GO:0005764), lysosomal membrane (GO:0005765), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	1
cellular process	1
vacuolar localization	1
response to alcohol	1
response to ketone	1
response to nitrogen compound	1
nervous system process	1
regulation of vesicle size	1
neuron projection development	1
behavior	1
regulation of cellular component size	1
transport along microtubule	1
establishment of organelle localization	1
locomotory behavior	1
binding	1
lysosomal membrane	1
cytoplasmic side of membrane	1
intracellular protein-containing complex	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

436 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BORCS7	BORCS5	Q969J3	990
BORCS7	BORCS6	Q96GS4	988
BORCS7	BLOC1S2	Q6QNY1	987
BORCS7	KXD1	Q9BQD3	987
BORCS7	SNAPIN	O95295	984
BORCS7	BORCS8	Q96FH0	968
BORCS7	BLOC1S1	P78537	966
BORCS7	AS3MT	Q9HBK9	798
BORCS7	ARL8B	Q9NVJ2	618
BORCS7	CNNM2	Q9H8M5	607
BORCS7	ARL5B	Q96KC2	596
BORCS7	NT5C2	P49902	580
BORCS7	WBP1L	Q9NX94	574
BORCS7	ARL8A	Q96BM9	556
BORCS7	U3KPZ7	U3KPZ7	540

IntAct

36 interactions, top by confidence:

A	B	Type	Score
LAMTOR4	LAMTOR5	psi-mi:“MI:0914”(association)	0.960
LAMTOR1	LAMTOR5	psi-mi:“MI:0914”(association)	0.870
PRPF19	PLRG1	psi-mi:“MI:0914”(association)	0.770
IKBIP	SNAPIN	psi-mi:“MI:0914”(association)	0.670
BORCS6	HSBP1	psi-mi:“MI:0914”(association)	0.530
BORCS8	SNAPIN	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
WLS	BORCS7	psi-mi:“MI:0915”(physical association)	0.490
TEX35	SNAPIN	psi-mi:“MI:0914”(association)	0.350
SHANK3	IGKV3D-15	psi-mi:“MI:0914”(association)	0.350
LAMTOR2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
PIP4P1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
VRK1	LAMTOR5	psi-mi:“MI:0914”(association)	0.350
KRT27	CCDC88B	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
WHAMMP3	EXOC5	psi-mi:“MI:0914”(association)	0.350
LAMTOR5	ERI3	psi-mi:“MI:0914”(association)	0.350
BRK1	KIF5C	psi-mi:“MI:0914”(association)	0.350
BLOC1S6	HSBP1	psi-mi:“MI:0914”(association)	0.350
BORCS7	SNAPIN	psi-mi:“MI:0914”(association)	0.350
MYPOP	SNAPIN	psi-mi:“MI:0914”(association)	0.350
BORCS8	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
BORCS6	UQCRQ	psi-mi:“MI:0914”(association)	0.350
BLOC1S6	KCNN4	psi-mi:“MI:0914”(association)	0.350
BCAS4	SNAPIN	psi-mi:“MI:0914”(association)	0.350

BioGRID (57): C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Proximity Label-MS), LOH12CR1 (Affinity Capture-MS), LAMTOR1 (Affinity Capture-MS), SNAPIN (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), C10orf32 (Affinity Capture-MS), BLOC1S1 (Affinity Capture-MS)

ESM2 similar proteins: A1JU78, A1XIQ0, A3KQI3, A6NF36, A8MTZ0, O17213, O36384, O57414, O74982, P03758, P0C2N4, P11500, P11924, P11925, P14268, P16420, P59636, P61416, P68968, P68969, P83175, Q01010, Q05127, Q09410, Q1PD52, Q28I03, Q29S20, Q2KIB7, Q32L75, Q39236, Q3E744, Q4V8S9, Q5H943, Q5RE16, Q61585, Q67616, Q6V1Q9, Q6X4T0, Q80956, Q8BGD0

Diamond homologs: Q28DH3, Q2KIB7, Q4V8S9, Q5REK7, Q96B45, Q9CRC6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 40 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
lysosome localization	6	92.9×	1e-08
positive regulation of TORC1 signaling	5	43.5×	4e-06
protein transport	6	7.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

17 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

792 predictions. Top by Δscore:

Variant	Effect	Δscore
10:102854426:AGG:A	donor_loss	1.0000
10:102854427:GG:G	donor_loss	1.0000
10:102854427:GGT:G	donor_loss	1.0000
10:102854428:G:A	donor_loss	1.0000
10:102854428:G:C	donor_loss	1.0000
10:102854429:T:G	donor_loss	1.0000
10:102854436:G:GT	donor_gain	1.0000
10:102854466:G:T	donor_gain	1.0000
10:102860330:A:AG	acceptor_gain	1.0000
10:102860330:AGCT:A	acceptor_gain	1.0000
10:102860331:G:GT	acceptor_gain	1.0000
10:102860331:GC:G	acceptor_gain	1.0000
10:102860331:GCT:G	acceptor_gain	1.0000
10:102860331:GCTG:G	acceptor_gain	1.0000
10:102860331:GCTGC:G	acceptor_gain	1.0000
10:102860390:AAGAT:A	donor_gain	1.0000
10:102860391:AGAT:A	donor_gain	1.0000
10:102860392:G:GT	donor_gain	1.0000
10:102860392:GAT:G	donor_gain	1.0000
10:102860392:GATG:G	donor_gain	1.0000
10:102860392:GATGT:G	donor_loss	1.0000
10:102860393:AT:A	donor_gain	1.0000
10:102860394:TGTA:T	donor_loss	1.0000
10:102860394:TGTAA:T	donor_loss	1.0000
10:102860395:G:GC	donor_loss	1.0000
10:102860395:G:GG	donor_gain	1.0000
10:102860396:T:G	donor_loss	1.0000
10:102860496:A:AG	acceptor_gain	1.0000
10:102860497:G:GG	acceptor_gain	1.0000
10:102860497:GA:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000351567 (10:102859129 TCTC>T), RS1000390019 (10:102862471 G>A), RS1000471832 (10:102853544 C>T), RS1000955352 (10:102857236 C>T), RS1001252651 (10:102856628 A>T), RS1001317811 (10:102853650 A>G), RS1001327257 (10:102860186 T>C), RS1001620289 (10:102857005 T>G), RS1002118662 (10:102852517 G>A,C), RS1002171220 (10:102852832 T>C), RS1002200013 (10:102852314 A>C), RS1002202384 (10:102858286 G>A), RS1002221535 (10:102858519 A>G), RS1002429092 (10:102865292 A>C), RS1002951538 (10:102854455 T>G)

Disease associations

OMIM: gene MIM:616600 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000528_8	Parkinson’s disease	7.000000e-08
GCST001421_1	Arsenic metabolism	3.000000e-09
GCST001942_1	Prostate cancer	5.000000e-10
GCST002149_2	Schizophrenia	4.000000e-13
GCST002539_4	Schizophrenia	6.000000e-19
GCST003253_11	Microalbuminuria	6.000000e-06
GCST004258_2	Diastolic blood pressure (long-term average)	8.000000e-09
GCST004259_3	Mean arterial pressure (long-term average)	1.000000e-11
GCST004521_172	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_78	Autism spectrum disorder or schizophrenia	1.000000e-16
GCST004904_25	Body mass index	5.000000e-11
GCST004946_77	Schizophrenia	4.000000e-17
GCST004946_86	Schizophrenia	4.000000e-20
GCST005956_50	Waist-to-hip ratio adjusted for BMI	8.000000e-06
GCST005958_15	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-06
GCST006231_42	Mean arterial pressure	2.000000e-11
GCST006803_4	Schizophrenia	7.000000e-18
GCST007603_17	Smoking initiation	2.000000e-13
GCST007705_26	Pulse pressure	2.000000e-11
GCST007707_64	Hypertension	4.000000e-10
GCST009600_45	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-16
GCST009703_5	Arsenic metabolism	2.000000e-09
GCST010703_271	Brain morphology (MOSTest)	5.000000e-13
GCST012354_36	Anxiety	4.000000e-06
GCST90002403_228	Red blood cell count	5.000000e-16

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004880	urinary arsenic measurement
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0004340	body mass index
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0005670	smoking initiation
EFO:0005763	pulse pressure measurement
EFO:0004346	neuroimaging measurement
EFO:0009863	anxiety measurement
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation, decreases metabolic processing	2
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	increases expression	2
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Demecolcine	increases expression	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Vincristine	increases expression	1
Cyclosporine	decreases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SF96	HAP1 C10orf32 (-) 1	Cancer cell line	Male
CVCL_SF97	HAP1 C10orf32 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.