Herc2 MGI Mouse Gene Detail - MGI:103234 - HECT and RLD domain containing E3 ubiquitin protein ligase 2

Symbol

Herc2
Name

HECT and RLD domain containing E3 ubiquitin protein ligase 2
Synonyms

D15F32S1h, D7H15F32S1, D7H15F37S1, jdf2, rjs

Feature Type

protein coding gene
IDs

MGI:103234
NCBI Gene: 15204
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr7:55699944-55881548 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 33.42 cM
Mapping Data

9 experiments

SNPs within 2kb

4449 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103234	protein coding gene	Chr7:55699872-55884373 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032316	protein coding gene	Chr7:56857988-57037424 (+)
A/J	MGP_AJ_G0032295	protein coding gene	Chr7:56000579-56177520 (+)
AKR/J	MGP_AKRJ_G0032231	protein coding gene	Chr7:57305806-57487359 (+)
BALB/cJ	MGP_BALBcJ_G0032307	protein coding gene	Chr7:55614699-55794973 (+)
C3H/HeJ	MGP_C3HHeJ_G0032020	protein coding gene	Chr7:57644297-57831373 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032800	protein coding gene	Chr7:59429349-59619128 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029807	protein coding gene	Chr7:58666079-58846733 (+)
CAST/EiJ	MGP_CASTEiJ_G0031349	protein coding gene	Chr7:48859706-49040851 (+)
CBA/J	MGP_CBAJ_G0031985	protein coding gene	Chr7:61478250-61686339 (+)
DBA/2J	MGP_DBA2J_G0032142	protein coding gene	Chr7:55029073-55204136 (+)
FVB/NJ	MGP_FVBNJ_G0032096	protein coding gene	Chr7:54970521-55147630 (+)
LP/J	MGP_LPJ_G0032223	protein coding gene	Chr7:57915207-58096873 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032133	protein coding gene	Chr7:60994258-61189596 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032817	protein coding gene	Chr7:56291421-56470291 (+)
PWK/PhJ	MGP_PWKPhJ_G0031069	protein coding gene	Chr7:48280483-48453696 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030910	protein coding gene	Chr7:44335448-44513852 (+)
WSB/EiJ	MGP_WSBEiJ_G0031467	protein coding gene	Chr7:56934948-57118814 (+)

Human Ortholog

HERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2
Synonyms

D15F37S1, jdf2, MRT38, p528, SHEP1
Links

HGNC:4868

NCBI Gene ID: 8924

neXtProt AC: NX_O95714

UniProt: O95714
Chr Location

15q13.1; chr15:28111040-28322179 (-) GRCh38

MGI Vertebrate Homology

Herc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HERC2
Gene Tree

Herc2

Diseases

2 with human HERC2 associations

				Human Disease	Mouse Models
				autosomal recessive intellectual developmental disorder 38 IDs autosomal recessive intellectual developmental disorder 38 DOID:0081203 OMIM:615516
				pigmentation disease IDs pigmentation disease DOID:10123 ICD9CM:709.09 UMLS_CUI:C0375489

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

References

4 with disease annotations

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Phenotype Summary

22 phenotypes from 13 alleles in 4 genetic backgrounds
1 phenotype from multigenic genotypes
57 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)

11
Endonuclease-mediated

4
Gene trapped

13
Radiation induced

5
Spontaneous

1
Targeted

1
Transgenic

1
Genomic Mutations

7 involving Herc2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

215 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.

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All GO Annotations

33
GO References

13

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

876
Tissues

36
cDNA Data

134
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 herc2

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All Sequences

67
RefSeq

8
UniProt

4
CCDS

CCDS21318.1

Ensembl

ENSMUSG00000030451 (Evidence)
NCBI Gene

15204

			Length	Strain/Species	Flank
genomic	ENSMUSG00000030451	Ensembl Gene Model \| MGI Sequence Detail	181605	C57BL/6J	± kb
transcript	ENSMUST00000076226	Ensembl \| MGI Sequence Detail	15250	Not Applicable
polypeptide	ENSMUSP00000075579	Ensembl \| MGI Sequence Detail	4836	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000029541 E3 ubiquitin-protein ligase HERC2

(term hierarchy)
EC

2.3.2.26
InterPro Domains

IPR004939 APC10/DOC domain

IPR006624 Beta-propeller repeat TECPR

IPR021097 CPH domain

IPR001199 Cytochrome b5-like heme/steroid binding domain

IPR036400 Cytochrome b5-like heme/steroid binding domain superfamily

IPR042469 E3 ubiquitin-protein ligase HECTD3

IPR008979 Galactose-binding-like domain superfamily

IPR000569 HECT domain

IPR035983 HECT, E3 ligase catalytic domain

IPR037976 HERC2, APC10 domain

IPR041987 HERC2, zinc finger, ZZ-type

IPR014722 Large ribosomal subunit protein uL2, domain 2

IPR010606 Mib-herc2

IPR037252 Mib/herc2 domain superfamily

IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II

IPR000408 Regulator of chromosome condensation, RCC1

IPR051210 Ubiquitin ligases and GEF domain-containing protein

IPR000433 Zinc finger, ZZ-type

IPR043145 Zinc finger, ZZ-type superfamily
GlyGen

Q4U2R1 5 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (2 sites)

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All nucleic 136

Genomic 1

cDNA 134

Primer pair 1

Microarray probesets 6

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MGD-MRK-24107, MGD-MRK-4005, MGD-MRK-7791, MGD-MRK-7792, MGI:1270154, MGI:93883

Summaries

All 93

Developmental Gene Expression 3

Diseases 4

Gene Ontology 13

Phenotypes 57
Earliest

J:13043 Gruneberg H, Genetical studies on the skeleton of the mouse. XII. The development of undulated. J Genet. 1954;52(2):441-455
Latest

J:335224 Nakai N, et al., Virtual reality-based real-time imaging reveals abnormal cortical dynamics during behavioral transitions in a mouse model of autism. Cell Rep. 2023 Mar 24;:112258

TSS for Herc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr66929	Chr7:55699883-55699965 (+)	-20 bp
Tssr66930	Chr7:55700089-55700100 (+)	151 bp
Tssr66931	Chr7:55757186-55757191 (+)	57,245 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 12/17/2024 MGI 6.24