Reps2 MGI Mouse Gene Detail - MGI:2663511 - RALBP1 associated Eps domain containing protein 2

Symbol

Reps2
Name

RALBP1 associated Eps domain containing protein 2
Synonyms

POB1

Feature Type

protein coding gene
IDs

MGI:2663511
NCBI Gene: 194590
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

ChrX:161194950-161426645 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 74.67 cM
Mapping Data

1 experiment

SNPs within 2kb

587 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2663511	protein coding gene	ChrX:161194949-161426701 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0036239	protein coding gene	ChrX:160400951-160645795 (-)
A/J	MGP_AJ_G0036209	protein coding gene	ChrX:159639411-159874088 (-)
AKR/J	MGP_AKRJ_G0036137	protein coding gene	ChrX:164711049-164957442 (-)
BALB/cJ	MGP_BALBcJ_G0036202	protein coding gene	ChrX:157653559-157884360 (-)
C3H/HeJ	MGP_C3HHeJ_G0035908	protein coding gene	ChrX:160785621-161031311 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036724	protein coding gene	ChrX:165154011-165391591 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033546	protein coding gene	ChrX:150748166-150977507 (-)
CAST/EiJ	MGP_CASTEiJ_G0035197	protein coding gene	ChrX:139777490-140007315 (-)
CBA/J	MGP_CBAJ_G0035883	protein coding gene	ChrX:169871976-170129133 (-)
DBA/2J	MGP_DBA2J_G0036049	protein coding gene	ChrX:158546325-158783545 (-)
FVB/NJ	MGP_FVBNJ_G0035980	protein coding gene	ChrX:157683810-157912254 (-)
LP/J	MGP_LPJ_G0036134	protein coding gene	ChrX:161574857-161832684 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0036012	protein coding gene	ChrX:178580546-178830391 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036765	protein coding gene	ChrX:159916634-160158711 (-)
PWK/PhJ	MGP_PWKPhJ_G0034895	protein coding gene	ChrX:136593246-136828436 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034716	protein coding gene	ChrX:140228194-140470548 (-)
WSB/EiJ	MGP_WSBEiJ_G0035332	protein coding gene	ChrX:157896533-158129803 (-)

Human Ortholog

REPS2, RALBP1 associated Eps domain containing 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

REPS2, RALBP1 associated Eps domain containing 2
Synonyms

POB1
Links

HGNC:9963

NCBI Gene ID: 9185

neXtProt AC: NX_Q8NFH8

UniProt: Q8NFH8
Chr Location

Xp22.2; chrX:16946658-17196655 (+) GRCh38

MGI Vertebrate Homology

Reps2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: REPS2
Gene Tree

Reps2

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
7 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

8
Endonuclease-mediated

2
Gene trapped

3
Targeted

3
Incidental Mutations

CvDC
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

9
GO References

3

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

706
cDNA Data

4
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase reps2

ZFIN reps2

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All Sequences

70
RefSeq

28
UniProt

4
CCDS

CCDS30508.1, CCDS72462.1

Ensembl

ENSMUSG00000040855 (Evidence)
NCBI Gene

194590

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040855	Ensembl Gene Model \| MGI Sequence Detail	231696	C57BL/6J	± kb
transcript	ENSMUST00000101102	Ensembl \| MGI Sequence Detail	7630	Not Applicable
polypeptide	ENSMUSP00000098661	Ensembl \| MGI Sequence Detail	648	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000013888 RalBP1-associated Eps domain-containing protein 2

(term hierarchy)
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR000261 EH domain

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All nucleic 4

cDNA 4

Microarray probesets 4

Summaries

All 29

Developmental Gene Expression 1

Gene Ontology 3

Phenotypes 7
Earliest

J:89306 Huang KM, et al., Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes. Genomics. 2004 Jun;83(5):893-901
Latest

J:199713 Somma G, et al., Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafness. J Assoc Res Otolaryngol. 2012 Jun;13(3):335-49

TSS for Reps2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr164511	ChrX:161426625-161426661 (-)	2 bp
Tssr164510	ChrX:161426571-161426618 (-)	50 bp
Tssr164509	ChrX:161426542-161426569 (-)	89 bp
Tssr164508	ChrX:161426459-161426470 (-)	180 bp
Tssr164507	ChrX:161348602-161348613 (-)	78,037 bp
Tssr164506	ChrX:161335736-161335753 (-)	90,900 bp
Tssr164505	ChrX:161335569-161335608 (-)	91,056 bp
Tssr164504	ChrX:161314112-161314117 (-)	112,530 bp
Tssr164503	ChrX:161198277-161198300 (-)	228,356 bp
Tssr164502	ChrX:161198242-161198257 (-)	228,395 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)
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