Hmx2 MGI Mouse Gene Detail - MGI:107159

Symbol

Hmx2
Name

H6 homeobox 2
Synonyms

Nkx5-2

Feature Type

protein coding gene
IDs

MGI:107159
NCBI Gene: 15372
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr7:131150502-131159743 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 74.34 cM
Mapping Data

2 experiments

SNPs within 2kb

209 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107159	protein coding gene	Chr7:131150486-131159743 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033107	protein coding gene	Chr7:136185086-136195786 (+)
A/J	MGP_AJ_G0033089	protein coding gene	Chr7:132462302-132470116 (+)
AKR/J	MGP_AKRJ_G0033021	protein coding gene	Chr7:135970380-135978204 (+)
BALB/cJ	MGP_BALBcJ_G0033090	protein coding gene	Chr7:132142066-132150607 (+)
C3H/HeJ	MGP_C3HHeJ_G0032804	protein coding gene	Chr7:135821065-135828880 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033601	protein coding gene	Chr7:141386929-141398004 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030572	protein coding gene	Chr7:133726321-133734115 (+)
CAST/EiJ	MGP_CASTEiJ_G0032134	protein coding gene	Chr7:127676066-127685794 (+)
CBA/J	MGP_CBAJ_G0032777	protein coding gene	Chr7:146246320-146254126 (+)
DBA/2J	MGP_DBA2J_G0032929	protein coding gene	Chr7:130441001-130449384 (+)
FVB/NJ	MGP_FVBNJ_G0032882	protein coding gene	Chr7:130302195-130309961 (+)
LP/J	MGP_LPJ_G0033023	protein coding gene	Chr7:137675094-137685630 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032914	protein coding gene	Chr7:147183666-147191504 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033621	protein coding gene	Chr7:134965161-134972891 (+)
PWK/PhJ	MGP_PWKPhJ_G0031840	protein coding gene	Chr7:123471781-123479602 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031686	protein coding gene	Chr7:121749729-121757526 (+)
WSB/EiJ	MGP_WSBEiJ_G0032245	protein coding gene	Chr7:135867491-135875209 (+)

Human Ortholog

HMX2, H6 family homeobox 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HMX2, H6 family homeobox 2
Synonyms

H6L, Nkx5-2
Links

HGNC:5018

NCBI Gene ID: 3167

neXtProt AC: NX_A2RU54

UniProt: A2RU54
Chr Location

10q26.13; chr10:123148136-123150672 (+) GRCh38

MGI Vertebrate Homology

Hmx2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HMX2
Gene Tree

Hmx2

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Phenotype Summary

30 phenotypes from 3 alleles in 3 genetic backgrounds
11 phenotypes from multigenic genotypes
8 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

6
Endonuclease-mediated

1
Targeted

5
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous disruption of this gene results behavioral abnormalities, such as hyperactivity, head tilting and circling, as well as abnormal vestibular morphogenesis, including severe dysgenesis of all three semicircular ducts.

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All GO Annotations

19
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.

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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

914
Tissues

131
cDNA Data

11
Literature Summary

33

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hmx2

ZFIN hmx2

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All Sequences

33
RefSeq

4
UniProt

1
CCDS

CCDS21918.1

Ensembl

ENSMUSG00000050100 (Evidence)
NCBI Gene

15372

			Length	Strain/Species	Flank
genomic	ENSMUSG00000050100	Ensembl Gene Model \| MGI Sequence Detail	9242	C57BL/6J	± kb
transcript	ENSMUST00000183219	Ensembl \| MGI Sequence Detail	1546	Not Applicable
polypeptide	ENSMUSP00000138799	Ensembl \| MGI Sequence Detail	273	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000008647 homeobox protein HMX2

(term hierarchy)
InterPro Domains

IPR051300 HMX Homeobox Transcription Factors

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR020479 Homeobox domain, metazoa

IPR009057 Homeobox-like domain superfamily

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All nucleic 19

Genomic 5

cDNA 12

Other 2

Microarray probesets 2

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MGD-MRK-12896, MGD-MRK-35620

Summaries

All 62

Developmental Gene Expression 33

Gene Ontology 10

Phenotypes 8
Earliest

J:17126 Bober E, et al., A novel NK-related mouse homeobox gene: expression in central and peripheral nervous structures during embryonic development. Dev Biol. 1994 Mar;162(1):288-303
Latest

J:357469 Sivori M, et al., The pelvic organs receive no parasympathetic innervation. Elife. 2024;15

TSS for Hmx2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr69568	Chr7:131150484-131150490 (+)	-15 bp
Tssr69569	Chr7:131156018-131156028 (+)	5,521 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