Borcs6 MGI Mouse Gene Detail - MGI:1919173 - BLOC-1 related complex subunit 6

Symbol

Borcs6
Name

BLOC-1 related complex subunit 6
Synonyms

2310047M10Rik

Feature Type

protein coding gene
IDs

MGI:1919173
NCBI Gene: 71923
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr11:68950601-68952402 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 42.33 cM, cytoband B3
Mapping Data

2 experiments

SNPs within 2kb

27 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919173	protein coding gene	Chr11:68950543-68952404 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018515	protein coding gene	Chr11:69465593-69467454 (+)
A/J	MGP_AJ_G0018484	protein coding gene	Chr11:66850659-66852520 (+)
AKR/J	MGP_AKRJ_G0018453	protein coding gene	Chr11:68849760-68851621 (+)
BALB/cJ	MGP_BALBcJ_G0018455	protein coding gene	Chr11:67172323-67174184 (+)
C3H/HeJ	MGP_C3HHeJ_G0018268	protein coding gene	Chr11:68869294-68871155 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018907	protein coding gene	Chr11:71575314-71577175 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016551	protein coding gene	Chr11:63790871-63792736 (+)
CAST/EiJ	MGP_CASTEiJ_G0017824	protein coding gene	Chr11:69107785-69109646 (+)
CBA/J	MGP_CBAJ_G0018242	protein coding gene	Chr11:74782426-74784287 (+)
DBA/2J	MGP_DBA2J_G0018351	protein coding gene	Chr11:66450309-66452170 (+)
FVB/NJ	MGP_FVBNJ_G0018341	protein coding gene	Chr11:66072066-66073927 (+)
LP/J	MGP_LPJ_G0018422	protein coding gene	Chr11:70052260-70054121 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018364	protein coding gene	Chr11:75412900-75414761 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018948	protein coding gene	Chr11:69097694-69099555 (+)
PWK/PhJ	MGP_PWKPhJ_G0017599	protein coding gene	Chr11:67086123-67087984 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017387	protein coding gene	Chr11:68932198-68934059 (+)
WSB/EiJ	MGP_WSBEiJ_G0017877	protein coding gene	Chr11:68740904-68742765 (+)

Human Ortholog

BORCS6, BLOC-1 related complex subunit 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BORCS6, BLOC-1 related complex subunit 6
Synonyms

C17orf59, PRO2472
Links

HGNC:25939

NCBI Gene ID: 54785

neXtProt AC: NX_Q96GS4

UniProt: Q96GS4
Chr Location

17p13.1; chr17:8188345-8190180 (-) GRCh38

MGI Vertebrate Homology

Borcs6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BORCS6
Gene Tree

Borcs6

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Phenotype Summary

12 phenotypes from 1 allele in 1 genetic background
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

3
Chemically induced (other)

1
Targeted

2
Genomic Mutations

1 involving Borcs6
Find Mice (IMSR)

8 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased embryo size, egg cylinder degeneration, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis.

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All GO Annotations

15
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

805
Tissues

70
cDNA Data

33
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase borcs6

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All Sequences

30
RefSeq

2
UniProt

1
CCDS

CCDS36190.1

Ensembl

ENSMUSG00000045176 (Evidence)
NCBI Gene

71923

			Length	Strain/Species	Flank
genomic	71923	NCBI Gene Model \| MGI Sequence Detail	1802	C57BL/6J	± kb
transcript	NM_028005	RefSeq \| MGI Sequence Detail	1802	C57BL/6
polypeptide	Q9D6W8	UniProt \| EBI \| MGI Sequence Detail	360	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000060006 BLOC-1-related complex subunit 6

(term hierarchy)
InterPro Domains

IPR019314 BLOC-1-related complex subunit 6

IPR046465 BLOC-1-related complex subunit 6, C-terminal helix

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All nucleic 36

cDNA 33

Primer pair 2

Other 1

Microarray probesets 4

Summaries

All 37

Developmental Gene Expression 3

Gene Ontology 8

Phenotypes 9
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:329966 Bell CJ, et al., Borcs6 is required for endo-lysosomal degradation during early development. Mol Reprod Dev. 2022 Aug;89(8):337-350

TSS for Borcs6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr102368	Chr11:68949334-68949361 (+)	-1,253 bp
Tssr102369	Chr11:68950534-68950571 (+)	-48 bp
Tssr102370	Chr11:68950576-68950635 (+)	5 bp
Tssr102371	Chr11:68950648-68950667 (+)	57 bp
Tssr102372	Chr11:68950934-68950957 (+)	345 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23