Slc24a5 MGI Mouse Gene Detail - MGI:2677271 - solute carrier family 24, member 5

Symbol

Slc24a5
Name

solute carrier family 24, member 5
Synonyms

F630045L20Rik, NCKX5, NCX5, Oca6

Feature Type

protein coding gene
IDs

MGI:2677271
NCBI Gene: 317750
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr2:124910076-124930316 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.14 cM
Mapping Data

1 experiment

SNPs within 2kb

612 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2677271	protein coding gene	Chr2:124910044-124930597 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026423	protein coding gene	Chr2:128227758-128252552 (+)
A/J	MGP_AJ_G0026385	protein coding gene	Chr2:123014977-123035448 (+)
AKR/J	MGP_AKRJ_G0026361	protein coding gene	Chr2:126531585-126552456 (+)
BALB/cJ	MGP_BALBcJ_G0026397	protein coding gene	Chr2:123306054-123326732 (+)
C3H/HeJ	MGP_C3HHeJ_G0026141	protein coding gene	Chr2:127016284-127037839 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026844	protein coding gene	Chr2:132332226-132352778 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024221	protein coding gene	Chr2:117804046-117824483 (+)
CAST/EiJ	MGP_CASTEiJ_G0025603	protein coding gene	Chr2:127262358-127282857 (+)
CBA/J	MGP_CBAJ_G0026121	protein coding gene	Chr2:137135503-137159890 (+)
DBA/2J	MGP_DBA2J_G0026255	protein coding gene	Chr2:122429813-122450905 (+)
FVB/NJ	MGP_FVBNJ_G0026219	protein coding gene	Chr2:121119984-121141046 (+)
LP/J	MGP_LPJ_G0026360	protein coding gene	Chr2:128472289-128492695 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026240	protein coding gene	Chr2:141281923-141302487 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026898	protein coding gene	Chr2:126558850-126583236 (+)
PWK/PhJ	MGP_PWKPhJ_G0025339	protein coding gene	Chr2:121966480-121987877 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025140	protein coding gene	Chr2:125645086-125665792 (+)
WSB/EiJ	MGP_WSBEiJ_G0025676	protein coding gene	Chr2:127464173-127486487 (+)

Human Ortholog

SLC24A5, solute carrier family 24 member 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC24A5, solute carrier family 24 member 5
Synonyms

JSX, NCKX5, OCA6, SHEP4
Links

HGNC:20611

NCBI Gene ID: 283652

neXtProt AC: NX_Q71RS6

UniProt: Q71RS6
Chr Location

15q21.1

MGI Vertebrate Homology

Slc24a5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC24A5
Gene Tree

Slc24a5

Diseases

1 with Slc24a5 mouse models; 1 with human SLC24A5 associations

Human Disease

Mouse Models

ocular albinism 1

IDs

View 1 model

oculocutaneous albinism type VI

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

21 phenotypes from 2 alleles in 2 genetic backgrounds
10 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
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Slc24a5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism.

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All GO Annotations

19
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	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

819
Tissues

17
cDNA Data

20
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 slc24a5

ZFIN slc24a5

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All Sequences

34
RefSeq

2
UniProt

2
CCDS

CCDS38226.1

Ensembl

ENSMUSG00000035183 (Evidence)
NCBI Gene

317750

			Length	Strain/Species	Flank
genomic	317750	NCBI Gene Model \| MGI Sequence Detail	20241	C57BL/6J	± kb
transcript	NM_175034	RefSeq \| MGI Sequence Detail	1641	C57BL/6
polypeptide	Q8C261	UniProt \| EBI \| MGI Sequence Detail	501	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000015002 sodium/potassium/calcium exchanger 5

(term hierarchy)
InterPro Domains

IPR044880 NCX, central ion-binding domain superfamily

IPR004837 Sodium/calcium exchanger membrane region

IPR004481 Sodium/potassium/calcium exchanger

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All nucleic 26

cDNA 24

Primer pair 2

Microarray probesets 1

Summaries

All 36

Developmental Gene Expression 3

Diseases 1

Gene Ontology 8

Phenotypes 10
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

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

TSS for Slc24a5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19877	Chr2:124910038-124910053 (+)	-30 bp
Tssr19878	Chr2:124910068-124910083 (+)	0 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 11/12/2024 MGI 6.24