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Gene, Transcriptome, Protein, Pathway or Disease. 

Gene basic information

LiverAtlas Gene ID

HuLG000443

Entrez Gene ID

641

Official Gene Symbol

BLM

Synonyms

BS|MGC126616|MGC131618|MGC131620|RECQ2|RECQL2|RECQL3

Gene name

Bloom syndrome, RecQ helicase-like

Gene Type

protein-coding

Chromosome

15

Genomics Location

15q26.1

Known cancer genes

Yes

Protein products

BLM protein

Bloom syndrome protein

BLM protein

Related liver disease name

Hepatitis

Hepatitis A

Hepatitis B

Hepatitis C

Hepatitis D

Hepatitis E

Hepatocellular carcinoma

Database cross reference

HGNC:1058
MIM:604610
Ensembl:ENSG00000197299
HPRD:05211
RefSeq Genomic nucleotide accession:AC_000058
RefSeq Genomic nucleotide gi:89161193

Liver relevance

HCC significant genes

Yes/No

Yes

Evidence

EHCO

Quality score

 

Ontology annotation

GO ID

GO annotation

GO:0000079

regulation of cyclin-dependent protein kinase activity

GO:0000085

G2 phase of mitotic cell cycle

GO:0000166

nucleotide binding

GO:0000405

bubble DNA binding

GO:0000723

telomere maintenance

GO:0000724

double-strand break repair via homologous recombination

GO:0000733

DNA strand renaturation

GO:0000739

DNA strand annealing activity

GO:0000781

chromosome, telomeric region

GO:0000800

lateral element

GO:0001673

male germ cell nucleus

GO:0002039

p53 binding

GO:0003677

DNA binding

GO:0003697

single-stranded DNA binding

GO:0004003

ATP-dependent DNA helicase activity

GO:0004386

helicase activity

GO:0005515

protein binding

GO:0005524

ATP binding

GO:0005622

intracellular

GO:0005634

nucleus

GO:0005657

replication fork

GO:0005730

nucleolus

GO:0005737

cytoplasm

GO:0006200

ATP catabolic process

GO:0006260

DNA replication

GO:0006281

DNA repair

GO:0006310

DNA recombination

GO:0006974

response to DNA damage stimulus

GO:0008026

ATP-dependent helicase activity

GO:0009378

four-way junction helicase activity

GO:0010165

response to X-ray

GO:0016363

nuclear matrix

GO:0016605

PML body

GO:0016787

hydrolase activity

GO:0016818

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides

GO:0016887

ATPase activity

GO:0031297

replication fork processing

GO:0031572

G2/M transition DNA damage checkpoint

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO:0044237

cellular metabolic process

GO:0045120

pronucleus

GO:0045893

positive regulation of transcription, DNA-dependent

GO:0045910

negative regulation of DNA recombination

GO:0045950

negative regulation of mitotic recombination

GO:0046632

alpha-beta T cell differentiation

GO:0046641

positive regulation of alpha-beta T cell proliferation

GO:0048478

replication fork protection

GO:0051098

regulation of binding

GO:0051259

protein oligomerization

GO:0051276

chromosome organization

GO:0051782

negative regulation of cell division

GO:0051880

G-quadruplex DNA binding