Rtbdn MGI Mouse Gene Detail - MGI:2443686

Symbol

Rtbdn
Name

retbindin
Synonyms

A330096I21Rik, MGC:31644, MGC:38683, MGC:38855

Feature Type

protein coding gene
IDs

MGI:2443686
NCBI Gene: 234542
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr8:85673620-85683232 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 41.37 cM
Mapping Data

2 experiments

SNPs within 2kb

292 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443686	protein coding gene	Chr8:85672880-85683235 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033881	protein coding gene	Chr8:85889065-85899547 (+)
A/J	MGP_AJ_G0033864	protein coding gene	Chr8:82493579-82503172 (+)
AKR/J	MGP_AKRJ_G0033790	protein coding gene	Chr8:84938804-84948286 (+)
BALB/cJ	MGP_BALBcJ_G0033857	protein coding gene	Chr8:82621424-82635389 (+)
C3H/HeJ	MGP_C3HHeJ_G0033567	protein coding gene	Chr8:85561531-85573046 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034377	protein coding gene	Chr8:89172865-89183310 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031318	protein coding gene	Chr8:76291373-76301983 (+)
CAST/EiJ	MGP_CASTEiJ_G0032897	protein coding gene	Chr8:84996551-85006023 (+)
CBA/J	MGP_CBAJ_G0033543	protein coding gene	Chr8:92193421-92203019 (+)
DBA/2J	MGP_DBA2J_G0033696	protein coding gene	Chr8:82134161-82143945 (+)
FVB/NJ	MGP_FVBNJ_G0033644	protein coding gene	Chr8:81085412-81096741 (+)
LP/J	MGP_LPJ_G0033788	protein coding gene	Chr8:85991449-86000959 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033686	protein coding gene	Chr8:94757394-94768124 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034394	protein coding gene	Chr8:84927092-84936534 (+)
PWK/PhJ	MGP_PWKPhJ_G0032601	protein coding gene	Chr8:81381131-81390746 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032437	protein coding gene	Chr8:83740607-83750115 (+)
WSB/EiJ	MGP_WSBEiJ_G0033010	protein coding gene	Chr8:85357837-85369042 (+)

Human Ortholog

RTBDN, retbindin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RTBDN, retbindin
Links

HGNC:30310

NCBI Gene ID: 83546

neXtProt AC: NX_Q9BSG5

UniProt: Q9BSG5
Chr Location

19p13.13; chr19:12825478-12835428 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: RTBDN
Gene Tree

Rtbdn

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Phenotype Summary

13 phenotypes from 2 alleles in 2 genetic backgrounds
43 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

9
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

3
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Rtbdn
Find Mice (IMSR)

9 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Targeted inactivation of this gene reduces flavin levels in the neural retina and leads to progressive and dose-dependent retinal photoreceptor degeneration of both rods and cones.

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All GO Annotations

8
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	membraneless 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

741
Tissues

32
cDNA Data

24
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rtbdn

ZFIN rtbdn

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All Sequences

48
RefSeq

8
UniProt

2
CCDS

CCDS22485.1

Ensembl

ENSMUSG00000048617 (Evidence)
NCBI Gene

234542

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048617	Ensembl Gene Model \| MGI Sequence Detail	9613	C57BL/6J	± kb
transcript	ENSMUST00000121880	Ensembl \| MGI Sequence Detail	1223	Not Applicable
polypeptide	ENSMUSP00000113982	Ensembl \| MGI Sequence Detail	247	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014337 retbindin

(term hierarchy)
InterPro Domains

IPR004269 Folate receptor

IPR018143 Folate receptor-like
GlyGen

Q8QZY4 1 site, 1 N-linked glycan (1 site)

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All nucleic 25

cDNA 25

Microarray probesets 2

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MGI:2384578

Summaries

All 66

Developmental Gene Expression 2

Gene Ontology 3

Phenotypes 43
Earliest

J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Rtbdn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr78473	Chr8:85673616-85673641 (+)	9 bp
Tssr78474	Chr8:85675471-85675495 (+)	1,863 bp
Tssr78475	Chr8:85676494-85676501 (+)	2,878 bp
Tssr78476	Chr8:85676503-85676514 (+)	2,889 bp
Tssr78477	Chr8:85676543-85676550 (+)	2,927 bp
Tssr78478	Chr8:85676782-85676793 (+)	3,168 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 11/19/2024 MGI 6.24