Hand2 MGI Mouse Gene Detail - MGI:103580 - heart and neural crest derivatives expressed 2

Symbol

Hand2
Name

heart and neural crest derivatives expressed 2
Synonyms

bHLHa26, dHAND, Ehand2, Hed, Thing2

Feature Type

protein coding gene
IDs

MGI:103580
NCBI Gene: 15111
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr8:57774018-57777552 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 29.80 cM
Mapping Data

3 experiments

SNPs within 2kb

131 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103580	protein coding gene	Chr8:57774018-57777668 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033621	protein coding gene	Chr8:57032204-57037056 (+)
A/J	MGP_AJ_G0033603	protein coding gene	Chr8:54638828-54642362 (+)
AKR/J	MGP_AKRJ_G0033528	protein coding gene	Chr8:56261310-56264844 (+)
BALB/cJ	MGP_BALBcJ_G0033600	protein coding gene	Chr8:54953412-54956948 (+)
C3H/HeJ	MGP_C3HHeJ_G0033309	protein coding gene	Chr8:56918259-56921793 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034116	protein coding gene	Chr8:59223574-59227108 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031064	protein coding gene	Chr8:50187192-50190734 (+)
CAST/EiJ	MGP_CASTEiJ_G0032635	protein coding gene	Chr8:56283127-56286702 (+)
CBA/J	MGP_CBAJ_G0033288	protein coding gene	Chr8:61332676-61336246 (+)
DBA/2J	MGP_DBA2J_G0033441	protein coding gene	Chr8:54448928-54452643 (+)
FVB/NJ	MGP_FVBNJ_G0033382	protein coding gene	Chr8:53805226-53809405 (+)
LP/J	MGP_LPJ_G0033529	protein coding gene	Chr8:57050394-57054981 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033426	protein coding gene	Chr8:62946548-62950082 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034134	protein coding gene	Chr8:56482268-56485799 (+)
PWK/PhJ	MGP_PWKPhJ_G0032343	protein coding gene	Chr8:53753940-53758261 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032179	protein coding gene	Chr8:55359850-55365914 (+)
WSB/EiJ	MGP_WSBEiJ_G0032751	protein coding gene	Chr8:56731369-56734880 (+)

Human Ortholog

HAND2, heart and neural crest derivatives expressed 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HAND2, heart and neural crest derivatives expressed 2
Synonyms

bHLHa26, dHand, DHAND2, Hed, Thing2
Links

HGNC:4808

NCBI Gene ID: 9464

neXtProt AC: NX_P61296

UniProt: P61296
Chr Location

4q34.1; chr4:173524969-173530229 (-) GRCh38

MGI Vertebrate Homology

Hand2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HAND2
Gene Tree

Hand2

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Phenotype Summary

101 phenotypes from 18 alleles in 17 genetic backgrounds
43 phenotypes from multigenic genotypes
3 images
60 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

27
Chemically induced (other)

1
Endonuclease-mediated

5
Targeted

11
Transgenic

10
Genomic Mutations

1 involving Hand2
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous targeted null mutants have defects of the neural crest component of branchial and aortic arches and die from heart failure at embryonic day 10.5. Targeted branchial arch specific enhancer mutants show craniofacial defects and die perinatally.

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All GO Annotations

102
GO References

29

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

1599
Tissues

328
cDNA Data

21
Literature Summary

343

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

GEISHA HAND2

Xenbase hand2

ZFIN hand2

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All Sequences

34
RefSeq

2
UniProt

2
CCDS

CCDS22315.1

Ensembl

ENSMUSG00000038193 (Evidence)
NCBI Gene

15111

			Length	Strain/Species	Flank
genomic	15111	NCBI Gene Model \| MGI Sequence Detail	3535	C57BL/6J	± kb
transcript	NM_010402	RefSeq \| MGI Sequence Detail	2235	ZRU/MplStud
polypeptide	Q61039	UniProt \| EBI \| MGI Sequence Detail	217	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000008440 heart- and neural crest derivatives-expressed protein 2

(term hierarchy)
InterPro Domains

IPR050283 E-box Binding Transcriptional Regulators

IPR036638 Helix-loop-helix DNA-binding domain superfamily

IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain

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All nucleic 112

Genomic 4

cDNA 25

Primer pair 31

Other 52

Microarray probesets 6

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MGD-MRK-24465, MGD-MRK-25633, MGI:104305, MGI:2142483, MGI:2142607

Summaries

All 415

Developmental Gene Expression 343

Gene Ontology 29

Phenotypes 60
Earliest

J:26206 Hollenberg SM, et al., Identification of a new family of tissue-specific basic helix-loop-helix proteins with a two-hybrid system. Mol Cell Biol. 1995 Jul;15(7):3813-22
Latest

J:350460 Soussi G, et al., TBX3 is essential for establishment of the posterior boundary of anterior genes and upregulation of posterior genes together with HAND2 during the onset of limb bud development. Development. 2024 Jun 1;151(11)

TSS for Hand2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr77409	Chr8:57774010-57774027 (+)	1 bp
Tssr77410	Chr8:57774036-57774048 (+)	24 bp
Tssr77411	Chr8:57775229-57775292 (+)	1,243 bp
Tssr77412	Chr8:57776348-57776359 (+)	2,336 bp
Tssr77413	Chr8:57776361-57776370 (+)	2,348 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