ERCC5 - ERCC excision repair 5, endonuclease Gene

Homo sapiens

Also known as XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201

Gene ID: 2073 | Gene type: protein coding

About ERCC5

Cytogenetic location: 13q33.1 Genomic coordinates (GRCh38): 13:102,846,032-102,875,995 (from NCBI)

This gene has 18 transcripts (splice variants), 241 orthologues, 1 paralogue and is associated with 100 phenotypes. Ubiquitous expression in lymph node (RPKM 16.5), duodenum (RPKM 16.5) and 25 other tissues.

Summary

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV LIGHT and increased susceptibility for skin Cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

ERCC5 Products(1)

mRNA	Protein	Name
NM_000123.4	NP_000114.3	DNA excision repair protein ERCC-5

ERCC5 Protein Structure

XPG_N

XPG_I

0
200
400
600
800
1000
1186 a.a.

Protein Preferred Names

Protein Names

DNA excision repair protein ERCC-5

DNA repair protein complementing XP-G cells

Related Diseases

Diseases

Alias

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G	Xeroderma Pigmentosum Vii
Xp7	XPG
Xeroderma Pigmentosum Group G	Xp Group G
Xp, Group G	Xpgc
Xeroderma Pigmentosum, Group G/Cockayne Syndrome	Xeroderma Pigmentosum, Type 7
Xeroderma Pigmentosum Complementation Group G	XP-G
Xp-G/Cs	Xeroderma Pigmentosum Group G/Cockayne Syndrome

Cerebrooculofacioskeletal Syndrome 3

COFS3

Cerebro-Oculo-Facio-Skeletal Syndrome 3

Xeroderma Pigmentosum-Cockayne Syndrome Complex

Xp/Cs Complex

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome	COFS1
Pena-Shokeir Syndrome Type 2	Cofs
Pena-Shokeir Syndrome, Type Ii	Cerebrooculofacioskeletal Syndrome
Cerebro-Oculo-Facio-Skeletal Syndrome 1	Pena Shokeir Syndrome Type 2

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Pectus Excavatum

Funnel Chest

Congenital Pectus Excavatum

Polyneuropathy

Polyneuropathies

Hepatoblastoma

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome	Cofs Syndrome
Pena-Shokeir Syndrome Type 2	Pena Shokeir Syndrome Type 2

Dyskeratosis Congenita, Autosomal Dominant 2

Autosomal Recessive Dyskeratosis Congenita 4	DKCA2
Autosomal Dominant Dyskeratosis Congenita 2	DKCB4
Dyskeratosis Congenita, Autosomal Dominant, 2	Dyskeratosis Congenita Scoggins Type
Dyskeratosis Congenita, Autosomal Recessive, 4	Dyskeratosis Congenita, Autosomal Recessive 4
Dyskeratosis Congenita, Autosomal Dominant, Type 2

Xeroderma Pigmentosum, Complementation Group E

Xeroderma Pigmentosum V	Xp5
Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype	Xpe
Xp, Group E	Xeroderma Pigmentosum, Type 5
Xeroderma Pigmentosum Complementation Group E	XP-E
Xp Group E

Xeroderma Pigmentosum, Complementation Group F

Xeroderma Pigmentosum, Group F	Xeroderma Pigmentosum Vi
Xp6	Xeroderma Pigmentosum, Type F/Cockayne Syndrome
XPF	Xp, Group F
Xeroderma Pigmentosum Group F	Xp Group F
Xeroderma Pigmentosum, Type 6	Xeroderma Pigmentosum Complementation Group F
XP-F	Xeroderma Pigmentosum Type F/Cockayne Syndrome
XPF/CS

Xfe Progeroid Syndrome

Xpf-Ercc1 Progeroid Syndrome

XFEPS

Xeroderma Pigmentosum, Complementation Group A

Xeroderma Pigmentosum Group A	Xp1
Xeroderma Pigmentosum, Group A	XPA
Xeroderma Pigmentosum I	Xeroderma Pigmentosum Complementation Group A
Xp Group A	Xp, Group A
Xeroderma Pigmentosum 1	Xeroderma Pigmentosum, Type 1
XP-A

Uv-Sensitive Syndrome

Uvss	Uv Sensitive Syndrome
Ultraviolet Sensitive Syndrome

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04482	ERCC5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ERCC5	RGD	RGD:1586176
Mus musculus	ERCC5	MGD	MGI:103582

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