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

中文名称：含 HECT 和 RLD 结构域的 E3 泛素蛋白连接酶 2

种属: Homo sapiens

同用名: jdf2; p528; MRT38; SHEP1; D15F37S1

基因 ID: 8924 | 基因类型: protein coding

关于 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.

功能概要

该基因属于 HERC 基因家族，该家族编码一组异常大的蛋白质，其中包含多个结构域。所有成员都有至少 1 个 N 末端区域的拷贝，显示与细胞周期调节因子 RCC1 同源，以及在许多 E3 泛素蛋白连接酶中发现的 C 末端 HECT (与 E6-AP C 末端同源) 结构域。该基因的遗传变异与皮肤/头发/眼睛色素沉着变异性有关。该基因的多个假基因位于 15 号和 16 号染色体上。[RefSeq 提供，2012 年 3 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables SUMO binding	IDA IDA: 通过直接分析推断	22508508	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20023648	GOA
enables ubiquitin protein ligase activity	IDA IDA: 通过直接分析推断	20304803	GOA
enables ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	22508508	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	22508508	GOA
involved in protein ubiquitination	IDA IDA: 通过直接分析推断	20304803	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	20304803	GOA
located in nucleus	IDA IDA: 通过直接分析推断	20304803	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HERC2 蛋白结构

RCC1

Cyt-b5

MIB_HERC2

Cul7

ANAPC10

RCC1

HECT

0
800
1600
2400
3200
4000
4834 a.a.

蛋白主名

其他名称

E3 ubiquitin-protein ligase HERC2

HECT-type E3 ubiquitin transferase HERC2

HERC2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	HERC2	O95714	UBE3A	Homo sapiens	Q05086-2	Anti Tag CoIP	29426014
种属内	HERC2	O95714	SPZ1	Homo sapiens	Q9BXG8	Affinity Chrom	35140242

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06127	HERC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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