Hoxd12 MGI Mouse Gene Detail - MGI:96204

Symbol

Hoxd12
Name

homeobox D12
Synonyms

Hox-4.7, Hox-5.6

Feature Type

protein coding gene
IDs

MGI:96204
NCBI Gene: 15432
Member of

Hoxd cluster
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:74505357-74508049 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 44.13 cM
Mapping Data

4 experiments

SNPs within 2kb

116 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96204	protein coding gene	Chr2:74505357-74508049 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025846	protein coding gene	Chr2:74989214-74991905 (+)
A/J	MGP_AJ_G0025824	protein coding gene	Chr2:72056266-72058965 (+)
AKR/J	MGP_AKRJ_G0025792	protein coding gene	Chr2:74009533-74012232 (+)
BALB/cJ	MGP_BALBcJ_G0025818	protein coding gene	Chr2:72243189-72245885 (+)
C3H/HeJ	MGP_C3HHeJ_G0025578	protein coding gene	Chr2:74197376-74200067 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026265	protein coding gene	Chr2:77223342-77226034 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023668	protein coding gene	Chr2:69479335-69482048 (+)
CAST/EiJ	MGP_CASTEiJ_G0025042	protein coding gene	Chr2:74512004-74514694 (+)
CBA/J	MGP_CBAJ_G0025559	protein coding gene	Chr2:80044492-80047182 (+)
DBA/2J	MGP_DBA2J_G0025690	protein coding gene	Chr2:71662869-71665560 (+)
FVB/NJ	MGP_FVBNJ_G0025652	protein coding gene	Chr2:71052583-71055275 (+)
LP/J	MGP_LPJ_G0025778	protein coding gene	Chr2:74853353-74856003 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025683	protein coding gene	Chr2:81958088-81960784 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026322	protein coding gene	Chr2:74125073-74127764 (+)
PWK/PhJ	MGP_PWKPhJ_G0024783	protein coding gene	Chr2:71593257-71595949 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024591	protein coding gene	Chr2:74358903-74361595 (+)
WSB/EiJ	MGP_WSBEiJ_G0025110	protein coding gene	Chr2:74561033-74563722 (+)

Human Ortholog

HOXD12, homeobox D12

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HOXD12, homeobox D12
Synonyms

HOX4H
Links

HGNC:5135

NCBI Gene ID: 3238

neXtProt AC: NX_P35452

UniProt: P35452
Chr Location

2q31.1; chr2:176099795-176102489 (+) GRCh38

MGI Vertebrate Homology

Hoxd12 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HOXD12
Gene Tree

Hoxd12

Diseases

1 with human HOXD12 associations

				Human Disease	Mouse Models
				clubfoot IDs clubfoot DOID:11836 DOID:0001874 ICD10CM:Q66.89 ICD9CM:754.51 MESH:D003025 NCI:C84641 OMIM:119800 UMLS_CUI:C0009081

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

less

Phenotype Summary

20 phenotypes from 3 alleles in 3 genetic backgrounds
8 phenotypes from multigenic genotypes
75 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

36
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

1
Radiation induced

1
Spontaneous

1
Targeted

31
Genomic Mutations

32 involving Hoxd12
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

14 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit minor forelimb defects affecting carpals, metacarpals, and phalanges, and alterations of smooth muscle layers of the rectum resulting in malformation of the internal anal sphincter.

less

All GO Annotations

14
GO References

10

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

1190
Tissues

268
cDNA Data

12
Literature Summary

144

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA HOXD12

ZFIN hoxd12a

less

All Sequences

32
RefSeq

2
UniProt

2
CCDS

CCDS38147.1

Ensembl

ENSMUSG00000001823 (Evidence)
NCBI Gene

15432

			Length	Strain/Species	Flank
genomic	15432	NCBI Gene Model \| MGI Sequence Detail	2693	C57BL/6J	± kb
transcript	NM_008274	RefSeq \| MGI Sequence Detail	2534	ZRU/MplStud
polypeptide	P23812	UniProt \| EBI \| MGI Sequence Detail	268	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000008719 homeobox protein Hox-D12

(term hierarchy)
InterPro Domains

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR020479 Homeobox domain, metazoa

IPR009057 Homeobox-like domain superfamily

less

All nucleic 60

Genomic 9

cDNA 13

Primer pair 11

Other 27

Microarray probesets 3

less

MGD-MRK-10854, MGD-MRK-10863, MGD-MRK-10905

Summaries

All 225

Developmental Gene Expression 144

Gene Ontology 10

Phenotypes 75
Earliest

J:21265 Dolle P, et al., Coordinate expression of the murine Hox-5 complex homoeobox-containing genes during limb pattern formation. Nature. 1989 Dec 14;342(6251):767-72
Latest

J:342014 Chen Y, et al., Hnrnpk is essential for embryonic limb bud development as a transcription activator and a collaborator of insulator protein Ctcf. Cell Death Differ. 2023 Oct;30(10):2293-2308

TSS for Hoxd12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr532	Chr2:74504246-74504270 (+)	-1,099 bp
Tssr18391	Chr2:74504296-74504299 (+)	-1,059 bp
Tssr18392	Chr2:74505351-74505376 (+)	7 bp
Tssr18393	Chr2:74505412-74505430 (+)	64 bp
Tssr18394	Chr2:74505436-74505446 (+)	84 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