Abcd4 MGI Mouse Gene Detail - MGI:1349217 - ATP-binding cassette, sub-family D member 4

Symbol

Abcd4
Name

ATP-binding cassette, sub-family D member 4
Synonyms

P69r, Pxmp1l

Feature Type

protein coding gene
IDs

MGI:1349217
NCBI Gene: 19300
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr12:84648634-84664259 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 39.30 cM
Mapping Data

4 experiments

SNPs within 2kb

483 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1349217	protein coding gene	Chr12:84648238-84664259 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019941	protein coding gene	Chr12:85325621-85340560 (-)
A/J	MGP_AJ_G0019898	protein coding gene	Chr12:82095050-82110667 (-)
AKR/J	MGP_AKRJ_G0019874	protein coding gene	Chr12:84310921-84325932 (-)
BALB/cJ	MGP_BALBcJ_G0019878	protein coding gene	Chr12:82426808-82441750 (-)
C3H/HeJ	MGP_C3HHeJ_G0019684	protein coding gene	Chr12:84782685-84798324 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020329	protein coding gene	Chr12:87783574-87799549 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017947	protein coding gene	Chr12:78989452-79005248 (-)
CAST/EiJ	MGP_CASTEiJ_G0019233	protein coding gene	Chr12:79740749-79757125 (-)
CBA/J	MGP_CBAJ_G0019655	protein coding gene	Chr12:91176111-91191124 (-)
DBA/2J	MGP_DBA2J_G0019770	protein coding gene	Chr12:81618266-81633209 (-)
FVB/NJ	MGP_FVBNJ_G0019756	protein coding gene	Chr12:80576821-80591757 (-)
LP/J	MGP_LPJ_G0019842	protein coding gene	Chr12:85204687-85219714 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019795	protein coding gene	Chr12:94073295-94091268 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020363	protein coding gene	Chr12:83919740-83934681 (-)
PWK/PhJ	MGP_PWKPhJ_G0018997	protein coding gene	Chr12:76108829-76124086 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018792	protein coding gene	Chr12:78405274-78420168 (-)
WSB/EiJ	MGP_WSBEiJ_G0019285	protein coding gene	Chr12:84626760-84641687 (-)

Human Ortholog

ABCD4, ATP binding cassette subfamily D member 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABCD4, ATP binding cassette subfamily D member 4
Synonyms

ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
Links

HGNC:68

NCBI Gene ID: 5826

neXtProt AC: NX_O14678

UniProt: O14678
Chr Location

14q24.3; chr14:74285269-74303055 (-) GRCh38

MGI Vertebrate Homology

Abcd4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ABCD4
Gene Tree

Abcd4

less

Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
11 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

11
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

5
Targeted

3
Genomic Mutations

1 involving Abcd4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

42 strains or lines available

less

All GO Annotations

26
GO References

9

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.

less

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

844
Tissues

110
cDNA Data

37
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase abcd4

ZFIN abcd4

less

All Sequences

67
RefSeq

18
UniProt

7
CCDS

CCDS26047.1

Ensembl

ENSMUSG00000021240 (Evidence)
NCBI Gene

19300

			Length	Strain/Species	Flank
genomic	19300	NCBI Gene Model \| MGI Sequence Detail	15626	C57BL/6J	± kb
transcript	NM_008992	RefSeq \| MGI Sequence Detail	2451	C57BL/6
polypeptide	O89016	UniProt \| EBI \| MGI Sequence Detail	606	Not Applicable

less

UniProt

7 Sequences
Protein Ontology

PR:000031253 lysosomal cobalamin transporter ABCD4

(term hierarchy)
EC

7.6.2.8
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR003439 ABC transporter-like, ATP-binding domain

IPR017871 ABC transporter-like, conserved site

IPR011527 ABC transporter type 1, transmembrane domain

IPR036640 ABC transporter type 1, transmembrane domain superfamily

IPR050835 ATP-binding cassette sub-family D

IPR027417 P-loop containing nucleoside triphosphate hydrolase

less

All nucleic 41

cDNA 41

Microarray probesets 4

less

MGI:1298215

Summaries

All 43

Developmental Gene Expression 6

Gene Ontology 9

Phenotypes 11
Earliest

J:49554 Holzinger A, et al., The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies. FEBS Lett. 1998 Aug 14;433(1-2):179-83
Latest

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

TSS for Abcd4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr117017	Chr12:84664100-84664193 (-)	112 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 12/10/2024 MGI 6.24