HERC2 - HECT and RLD domain containing E3 ubiquitin protein ligase 2 Gene

Also Known as jdf2; p528; MRT38; SHEP1; D15F37S1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8924

About HERC2

Cytogenetic location: 15q13.1 Genomic coordinates (GRCh38): 15:28,111,040-28,322,179 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 204 orthologues, 24 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 8.9), ovary (RPKM 8.1) and 25 other tissues.

Summary

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

HERC2 Products (1)

mRNA	Protein	Name
NM_004667.6	NP_004658.3	E3 ubiquitin-protein ligase HERC2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SUMO binding	IDA IDA: Inferred from direct assay	22508508	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20023648	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	20304803	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	22508508	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	22508508	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	20304803	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20304803	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20304803	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HERC2 Protein Structure

RCC1

Cyt-b5

MIB_HERC2

Cul7

ANAPC10

RCC1

HECT

0
800
1600
2400
3200
4000
4834 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase HERC2	HECT-type E3 ubiquitin transferase HERC2

HERC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HERC2	O95714	UBE3A	Homo sapiens	Q05086-2	Anti Tag CoIP	29426014
Intra	HERC2	O95714	SPZ1	Homo sapiens	Q9BXG8	Affinity Chrom	35140242

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Recessive 38	Developmental Delay With Autism Spectrum Disorder And Gait Instability MRT38 Mental Retardation, Autosomal Recessive 38 Autosomal Recessive Intellectual Developmental Disorder 38 Developmental Delay With Asd And Gait Instability Mental Retardation, Autosomal Recessive, Type 38
Skin/Hair/Eye Pigmentation, Variation In, 1	SHEP1 Skin/Hair/Eye Pigmentation 1, Blue/Brown Eyes Eye Color, Brown/Blue Eye Color, Blue/Nonblue Eye Color 3 Eycl3 Brown Eye Color 2 Bey2 Hair Color 3 Hcl3 Skin/Hair/Eye Pigmentation 1, Blond/Brown Hair
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Optic Nerve Hypoplasia, Bilateral	Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Optic Nerve Hypoplasia, Familial Bilateral Familial Bilateral Optic Nerve Hypoplasia Isolated Optic Nerve Hypoplasia/Aplasia Optic Nerve Aplasia, Bilateral Onh BONH Bilateral Optic Nerve Aplasia Hypoplasia, Optic Nerve, Bilateral
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Neuronopathy, Distal Hereditary Motor, Type Iid	HMN2D Hmn Iid Dhmn2d Distal Hereditary Motor Neuronopathy Type 2d Distal Hereditary Motor Neuropathy Type Iid Neuronopathy, Distal Hereditary Motor, Type 2d Neuropathy, Distal Hereditary Motor, Type Iid Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant Distal Spinal Muscular Atrophy With Calf Predominance Neuronopathy, Distal Hereditary Motor, 2d Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant Dhmn Iid Neuropathy, Motor, Distal, Hereditary, Type 2d
Non-Syndromic X-Linked Intellectual Disability 103	Mrx103 X-Linked Mental Retardation 103
Syndromic X-Linked Intellectual Disability Turner Type	Mental Retardation, X-Linked Syndromic, Turner Type Intellectual Disability, X-Linked Syndromic, Turner Type Brooks-Wisniewski-Brown Syndrome Mental Retardation And Macrocephaly Syndrome Mrxst X-Linked Intellectual Disability, Brooks Type Mental Retardation, X-Linked, Syndromic, Turner Type
Ataxia, Sensory, 1, Autosomal Dominant	Autosomal Dominant Sensory Ataxia 1 SNAX1 Adsa Ataxia, Sensory, Type 1, Autosomal Dominant Ataxia, Sensory, Autosomal Dominant
Dermatosis Papulosa Nigra
Albinism, Oculocutaneous, Type Ii	OCA2 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type Ii Albinoidism Tyrosinase-Positive Oculocutaneous Albinism Brown Oculocutaneous Albinism Oculocutaneous Albinism, Tyrosinase-Positive Albinism Ii Albinism, Brown Oculocutaneous Oculocutaneous Albinism, Type Ii, Modifier Of Oculocutaneous Albinism, Type Ii Albinism, Oculocutaneous, Type Ii, Modifier Of Albinism 2 Albinism, Oculocutaneous, Type 2 Oculocutaneous Albinism Tyrosinase Positive Oculocutaneous Albinism, Tyrosinase Positive Albinism, Oculocutaneous, 2 Boca Oca-2 Oculocutaneous Albinism Tyrosinase-Positive
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid Syndrome
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS06127	HERC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19689	Herc2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26183	Herc2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HERC2	VGNC	VGNC:103647
Bos taurus	HERC2	VGNC	VGNC:59172
Felis catus	HERC2	VGNC	VGNC:67556
Rattus norvegicus	HERC2	RGD	RGD:1307989
Mus musculus	HERC2	MGD	MGI:103234
Others	HERC2	NCBI