BRIC2
MCID: CHL118
MIFTS: 43

Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 2:

Name: Cholestasis, Benign Recurrent Intrahepatic, 2 57 73 12
Bric2 57 11 58 73
Benign Recurrent Intrahepatic Cholestasis Type 2 58 28 5
Benign Recurrent Intrahepatic Cholestasis 2 11 19 14
Bric Type 2 11 58
Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 38
Cholestasis, Benign Recurrent Intrahepatic 2 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
onset in first 2 decades
precipitating factors include viral illness and pregnancy
allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, )


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0070232
OMIM® 57 605479
OMIM Phenotypic Series 57 PS243300
MESH via Orphanet 44 C535931
ICD10 via Orphanet 32 K83.1
UMLS via Orphanet 72 C2608083 C3489789
Orphanet 58 ORPHA99961
MedGen 40 C2608083
UMLS 71 C2608083

Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

GARD: 19 ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual's clinical findings and laboratory test results, including liver biopsy. Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pruritus and attacks of jaundice) within the first few months of life. Secondary manifestations such as coagulopathy (due to vitamin K deficiency), malabsorption, and poor weight gain may present earlier than age three months. Without surgical intervention, cirrhosis and evolution to end-stage hepatic failure and death usually ensue before the third decade. Mild ATP8B1 deficiency is characterized by intermittent episodes of cholestasis manifest as severe pruritus and jaundice; chronic liver damage does not typically develop. In contrast to patients in whom bouts of cholestasis are induced only by particular triggers known to increase risk of cholestasis (drug exposure, shifts in hormonal milieu [including those resulting from ingestion of contraceptive drugs or from pregnancy], coexistent malignancy), some or all bouts of cholestasis in individuals with mild ATP8B1 deficiency have different or unknown triggers.

MalaCards based summary: Cholestasis, Benign Recurrent Intrahepatic, 2, also known as bric2, is related to cholestasis, progressive familial intrahepatic, 2 and atp8b1 deficiency. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Nuclear receptors meta-pathway and Disorders of transmembrane transporters. Affiliated tissues include liver and pancreas, and related phenotypes are intrahepatic cholestasis and hepatomegaly

UniProtKB/Swiss-Prot: 73 A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

OMIM®: 57 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004). (605479) (Updated 08-Dec-2022)

Disease Ontology: 11 A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31.

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Cholestasis, Progressive Familial Intrahepatic, 6
Cholestasis, Progressive Familial Intrahepatic, 8 Cholestasis, Progressive Familial Intrahepatic, 9
Cholestasis, Progressive Familial Intrahepatic, 10 Cholestasis, Progressive Familial Intrahepatic, 11
Cholestasis, Progressive Familial Intrahepatic, 12 Progressive Familial Intrahepatic Cholestasis
Familial Intrahepatic Cholestasis Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 2 31.1 TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
2 atp8b1 deficiency 30.4 ATP8B1 ABCB11
3 cholestasis, benign recurrent intrahepatic, 1 30.2 TMEM30A TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
4 familial intrahepatic cholestasis 30.1 ATP8B1 ABCB11
5 cholestasis 29.1 TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
6 intrahepatic cholestasis 28.9 TMEM30A ATP8B1 ABCC2 ABCB4 ABCB11
7 progressive familial intrahepatic cholestasis 28.7 TMEM30A TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
8 cholestasis, progressive familial intrahepatic, 1 28.4 TMEM30A TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
9 oto-palatal-digital syndrome 10.4
10 gallbladder disease 1 10.2
11 cholelithiasis 10.2
12 hepatitis a 10.2
13 obstructive jaundice 10.2
14 nephronophthisis 4 10.1
15 alpha-1-antitrypsin deficiency 10.1
16 cholangiocarcinoma 10.1
17 cholangitis 10.1 ABCB4 ABCB11
18 citrullinemia, type ii, adult-onset 10.1 ATP8B1 ABCB11
19 pericholangitis 10.1 ABCB4 ABCB11
20 common bile duct disease 10.1 ABCB4 ABCB11
21 urea cycle disorder 10.0 ATP8B1 ABCB11
22 choledocholithiasis 10.0 ABCB4 ABCB11
23 citrullinemia, classic 10.0 ATP8B1 ABCB11
24 microvillus inclusion disease 10.0 ATP8B1 ABCB11
25 sclerosing cholangitis 9.9 ABCB4 ABCB11
26 bile duct cysts 9.9 ATP8B1 ABCB4 ABCB11
27 vitamin k deficiency bleeding 9.9
28 liver cirrhosis 9.9
29 growth hormone deficiency 9.9
30 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 9.9 TMEM30A ATP8B1
31 alagille syndrome 1 9.9 ATP8B1 ABCB4 ABCB11
32 biliary atresia 9.9 ABCB4 ABCB11
33 cholestasis, progressive familial intrahepatic, 5 9.7 TJP2 ATP8B1 ABCB4 ABCB11
34 cholestasis, intrahepatic, of pregnancy 3 9.7 TJP2 ATP8B1 ABCB4 ABCB11
35 extrahepatic cholestasis 9.7 ABCC2 ABCB4 ABCB11
36 crigler-najjar syndrome, type i 9.6 ABCC2 ABCB11
37 dubin-johnson syndrome 9.5 ATP8B1 ABCC2 ABCB4 ABCB11
38 sitosterolemia 9.5 ATP8B1 ABCC2 ABCB4 ABCB11
39 cholangitis, primary sclerosing 9.5 ATP8B1 ABCC2 ABCB4 ABCB11
40 bile duct disease 9.5 ATP8B1 ABCC2 ABCB4 ABCB11
41 biliary tract disease 9.5 ATP8B1 ABCC2 ABCB4 ABCB11
42 primary biliary cholangitis 9.5 ATP8B1 ABCC2 ABCB4 ABCB11
43 cholestasis, progressive familial intrahepatic, 4 9.3 TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
44 cholestasis, progressive familial intrahepatic, 3 9.3 TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
45 intrahepatic cholestasis of pregnancy 9.3 TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
46 liver disease 9.2 TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
47 bilirubin metabolic disorder 9.2 TMEM30A ATP8B1 ABCC2 ABCB4 ABCB11

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2:



Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrahepatic cholestasis 30 Occasional (7.5%) HP:0001406
2 hepatomegaly 30 HP:0002240
3 cholelithiasis 30 HP:0001081
4 jaundice 30 HP:0000952
5 pruritus 30 HP:0000989
6 conjugated hyperbilirubinemia 30 HP:0002908
7 elevated circulating alkaline phosphatase concentration 30 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Liver:
hepatomegaly
cholelithiasis
jaundice, episodic
progression to end-stage liver disease does not occur
intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life
more
Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased alkaline phosphatase
normal or mildly increased serum gamma-ggt
increased serum bile acids

Clinical features from OMIM®:

605479 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 ABCB11 ABCB4 ABCC2 ATP8B1 TJP2 TMEM30A

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

Search Clinical Trials, NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic, 2:

# Genetic test Affiliating Genes
1 Benign Recurrent Intrahepatic Cholestasis Type 2 28 ABCB11

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

Organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic, 2:

MalaCards : Liver, Pancreas

Publications for Cholestasis, Benign Recurrent Intrahepatic, 2

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 2:

(show all 28)
# Title Authors PMID Year
1
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 62 57 5
16039748 2005
2
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 62 57 5
15300568 2004
3
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency. 5
27050426 2016
4
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. 5
18395098 2008
5
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 5
10579978 1999
6
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 5
9806540 1998
7
Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene. 62
35431768 2022
8
Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child - Report from a tertiary care center in South India. 62
34135158 2021
9
Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation. 62
34013234 2021
10
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies. 62
33466755 2021
11
Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2. 62
32647738 2020
12
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 62
31015375 2019
13
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. 62
30899697 2019
14
A Physiology-Based Model of Human Bile Acid Metabolism for Predicting Bile Acid Tissue Levels After Drug Administration in Healthy Subjects and BRIC Type 2 Patients. 62
31611804 2019
15
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis. 62
29507376 2018
16
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. 62
29404523 2018
17
Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. 62
26223708 2016
18
Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations. 62
23685087 2014
19
Ursodeoxycholic acid stabilizes the bile salt export pump in the apical membrane in MDCK II cells. 62
23722250 2014
20
The bile salt export pump (BSEP) in health and disease. 62
22795478 2012
21
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 62
20422495 2010
22
Characterization of apoptotic activities during chlamydia trachomatis infection in primary cervical epithelial cells. 62
20840054 2010
23
Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2. 62
18853996 2008
24
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. 62
17947449 2008
25
Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. 62
17855769 2007
26
Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. 62
18049162 2007
27
Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. 62
16394881 2006
28
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. 62
16290310 2006

Variations for Cholestasis, Benign Recurrent Intrahepatic, 2

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

5 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCB11 NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) SNV Pathogenic
6595 rs121908935 GRCh37: 2:169833100-169833100
GRCh38: 2:168976590-168976590
2 ABCB11 NM_003742.4(ABCB11):c.2488del (p.Arg830fs) DEL Pathogenic
1028652 rs756323541 GRCh37: 2:169801237-169801237
GRCh38: 2:168944727-168944727
3 ABCB11 NM_003742.4(ABCB11):c.379del (p.Thr127fs) DEL Pathogenic
594630 rs1558927163 GRCh37: 2:169869792-169869792
GRCh38: 2:169013282-169013282
4 ABCB11 NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) SNV Pathogenic
417884 rs1060499579 GRCh37: 2:169801435-169801435
GRCh38: 2:168944925-168944925
5 ABCB11 NM_003742.4(ABCB11):c.2012-8T>G SNV Pathogenic
284637 rs769910565 GRCh37: 2:169825008-169825008
GRCh38: 2:168968498-168968498
6 ABCB11 NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) SNV Pathogenic
288555 rs72549402 GRCh37: 2:169828550-169828550
GRCh38: 2:168972040-168972040
7 ABCB11 NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) SNV Pathogenic
6590 rs11568372 GRCh37: 2:169847329-169847329
GRCh38: 2:168990819-168990819
8 ABCB11 NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) SNV Likely Pathogenic
290081 rs188824058 GRCh37: 2:169828535-169828535
GRCh38: 2:168972025-168972025
9 ABCB11 NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu) SNV Likely Pathogenic
1342713 GRCh37: 2:169780223-169780223
GRCh38: 2:168923713-168923713
10 ABCB11 NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly) SNV Uncertain Significance
1342714 GRCh37: 2:169830298-169830298
GRCh38: 2:168973788-168973788
11 ABCB11 NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys) SNV Uncertain Significance
1195889 GRCh37: 2:169874575-169874575
GRCh38: 2:169018065-169018065
12 ABCB11 NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) SNV Uncertain Significance
290851 rs141862495 GRCh37: 2:169820807-169820807
GRCh38: 2:168964297-168964297
13 ABCB11 NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro) SNV Uncertain Significance
522890 rs1553545883 GRCh37: 2:169787260-169787260
GRCh38: 2:168930750-168930750
14 ABCB11 NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) SNV Uncertain Significance
Uncertain Significance
286699 rs201800225 GRCh37: 2:169820769-169820769
GRCh38: 2:168964259-168964259
15 ABCB11 NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser) SNV Uncertain Significance
1707592 GRCh37: 2:169828472-169828472
GRCh38: 2:168971962-168971962
16 ABCB11 NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr) SNV Uncertain Significance
598094 rs776561679 GRCh37: 2:169853171-169853171
GRCh38: 2:168996661-168996661
17 ABCB11 NM_003742.4(ABCB11):c.2344-17T>C SNV Benign
259148 rs853789 GRCh37: 2:169801488-169801488
GRCh38: 2:168944978-168944978
18 ABCB11 NM_003742.4(ABCB11):c.2179-17C>A SNV Benign
259147 rs853772 GRCh37: 2:169814655-169814655
GRCh38: 2:168958145-168958145
19 ABCB11 NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) SNV Benign
194214 rs2287622 GRCh37: 2:169830328-169830328
GRCh38: 2:168973818-168973818
20 ABCB11 NM_003742.4(ABCB11):c.909-15A>G SNV Benign
259158 rs2287618 GRCh37: 2:169842809-169842809
GRCh38: 2:168986299-168986299
21 ABCB11 NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) SNV Benign
259152 rs497692 GRCh37: 2:169789016-169789016
GRCh38: 2:168932506-168932506
22 ABCB11 NM_003742.4(ABCB11):c.270T>C (p.Phe90=) SNV Benign
259151 rs4148777 GRCh37: 2:169869901-169869901
GRCh38: 2:169013391-169013391
23 ABCB11 NM_003742.4(ABCB11):c.2344-157T>G SNV Benign
1184646 GRCh37: 2:169801628-169801628
GRCh38: 2:168945118-168945118
24 ABCB11 NM_003742.4(ABCB11):c.1638+80C>T SNV Benign
1182069 GRCh37: 2:169828277-169828277
GRCh38: 2:168971767-168971767
25 ABCB11 NM_003742.4(ABCB11):c.1638+32T>C SNV Benign
1184647 GRCh37: 2:169828325-169828325
GRCh38: 2:168971815-168971815
26 ABCB11 NM_003742.4(ABCB11):c.1434+70C>T SNV Benign
1184648 GRCh37: 2:169830155-169830155
GRCh38: 2:168973645-168973645
27 ABCB11 NM_003742.4(ABCB11):c.1309-93G>A SNV Benign
1184649 GRCh37: 2:169830443-169830443
GRCh38: 2:168973933-168973933
28 ABCB11 NM_003742.4(ABCB11):c.908+108A>G SNV Benign
1184662 GRCh37: 2:169847203-169847203
GRCh38: 2:168990693-168990693
29 ABCB11 NM_003742.4(ABCB11):c.3766-34A>G SNV Benign
1184712 GRCh37: 2:169780366-169780366
GRCh38: 2:168923856-168923856
30 ABCB11 NM_003742.4(ABCB11):c.99-18T>C SNV Benign
259160 rs4148776 GRCh37: 2:169870882-169870882
GRCh38: 2:169014372-169014372

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

73
# Symbol AA change Variation ID SNP ID
1 ABCB11 p.Glu297Gly VAR_010271 rs11568372
2 ABCB11 p.Glu186Gly VAR_030386 rs72551307
3 ABCB11 p.Arg432Thr VAR_030391 rs121908935
4 ABCB11 p.Ala570Thr VAR_030392 rs886043807
5 ABCB11 p.Thr923Pro VAR_030394 rs777469571
6 ABCB11 p.Ala926Pro VAR_030395 rs72549400
7 ABCB11 p.Arg1050Cys VAR_030396 rs72549398
8 ABCB11 p.Arg1128His VAR_030397 rs756220860

Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic, 2.

Pathways for Cholestasis, Benign Recurrent Intrahepatic, 2

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.65 TMEM30A ATP8B1 ABCC2 ABCB4 ABCB11
2 phospholipid-translocating ATPase complex GO:1990531 9.46 TMEM30A ATP8B1
3 intercellular canaliculus GO:0046581 9.1 ABCC2 ABCB4 ABCB11

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid homeostasis GO:0055088 9.81 ABCB4 ABCB11
2 bile acid metabolic process GO:0008206 9.76 ATP8B1 ABCB11
3 aminophospholipid translocation GO:0140331 9.73 TMEM30A ATP8B1
4 bile acid and bile salt transport GO:0015721 9.73 ATP8B1 ABCC2 ABCB11
5 positive regulation of phospholipid translocation GO:0061092 9.67 TMEM30A ABCB4
6 phospholipid translocation GO:0045332 9.63 TMEM30A ATP8B1 ABCB4
7 xenobiotic export from cell GO:0046618 9.62 ABCB11 ABCC2
8 aminophospholipid transport GO:0015917 9.58 TMEM30A ATP8B1
9 phospholipid transport GO:0015914 9.49 TMEM30A ATP8B1
10 organic anion transport GO:0015711 9.48 ATP8B1 ABCC2
11 lipid transport GO:0006869 9.35 TMEM30A ATP8B1 ABCC2 ABCB4 ABCB11
12 xenobiotic transmembrane transport GO:0006855 9.23 TMEM30A ATP8B1 ABCC2 ABCB11

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 xenobiotic transmembrane transporter activity GO:0042910 9.71 ABCC2 ABCB4
2 ATPase-coupled transmembrane transporter activity GO:0042626 9.63 ABCC2 ABCB4 ABCB11
3 ABC-type xenobiotic transporter activity GO:0008559 9.62 ABCC2 ABCB11
4 phosphatidylcholine floppase activity GO:0090554 9.56 ATP8B1 ABCB4
5 ATPase-coupled intramembrane lipid transporter activity GO:0140326 9.54 ATP8B1 ABCB4
6 aminophospholipid flippase activity GO:0015247 9.13 TMEM30A ATP8B1
7 ABC-type transporter activity GO:0140359 9.02 ABCC2 ABCB4 ABCB11

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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