OPTB3
MCID: OST163
MIFTS: 51

Osteopetrosis, Autosomal Recessive 3 (OPTB3)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 3

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 3:

Name: Osteopetrosis, Autosomal Recessive 3 58 76 74
Osteopetrosis with Renal Tubular Acidosis 58 12 54 60 76 30 6
Marble Brain Disease 58 12 54 60 76
Guibaud-Vainsel Syndrome 58 12 60 76
Optb3 58 12 54 76
Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 58 13
Autosomal Recessive Osteopetrosis 3 12 15
Carbonic Anhydrase Ii Deficiency 58 12
Carbonic Anhydrase 2 Deficiency 54 60
Autosomal Recessive Osteopetrosis 3 with Renal Tubular Acidosis 12
Osteopetrosis, Autosomal Recessive, Type 3 41
Carbonic Anhydrase Ii Deficiency Syndrome 76
Autosomal Recessive Osteopetrosis Type 3 54
Osteopetrosis Autosomal Recessive 3 54
Renal Tubular Acidosis Type 3 60
Carbonic Anhydrase Ii Variant 6
Mixed Renal Tubular Acidosis 60
Guibaud Vainsel Syndrome 54
Carbonic Anhydrase Ii 13
Mixed Rta 60

Characteristics:

Orphanet epidemiological data:

60
osteopetrosis with renal tubular acidosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
osteopetrosis, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 3

NIH Rare Diseases : 54 Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention.

MalaCards based summary : Osteopetrosis, Autosomal Recessive 3, also known as osteopetrosis with renal tubular acidosis, is related to renal tubular acidosis and osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 3 is CA2 (Carbonic Anhydrase 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are genu valgum and abnormality of epiphysis morphology

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.

UniProtKB/Swiss-Prot : 76 Osteopetrosis, autosomal recessive 3: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.

Description from OMIM: 259730

Related Diseases for Osteopetrosis, Autosomal Recessive 3

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Autosomal Dominant 3 Clcn7-Related Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

Diseases related to Osteopetrosis, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis 31.1 ATP6V1B1 CA2 TCIRG1
2 osteopetrosis 30.3 CA2 CLCN7 CSF1 TCIRG1
3 metabolic acidosis 30.3 AQP2 ATP6V1B1 CA2
4 nephrocalcinosis 30.2 ATP6V1B1 CA2 SLC12A3
5 breast cancer 10.5
6 prostate cancer 10.5
7 colorectal adenoma 10.5
8 polycystic kidney disease 10.5
9 renal tubular acidosis, distal, autosomal dominant 10.4 ATP6V1B1 CA2
10 autosomal recessive malignant osteopetrosis 10.3 CLCN7 TCIRG1
11 osteopetrosis, autosomal recessive 6 10.3 CLCN7 TCIRG1
12 pancreatitis 10.3
13 autoimmune pancreatitis 10.2
14 occlusion precerebral artery 10.2 CA1 CA4
15 biliary cirrhosis, primary, 1 10.2
16 pancreatic cancer 10.2
17 primary biliary cirrhosis 10.2
18 primary biliary cholangitis 10.2
19 carotid artery occlusion 10.2 CA1 CA4
20 bone resorption disease 10.1
21 adenocarcinoma 10.1
22 osteopetrosis, autosomal dominant 2 10.1 CLCN7 TCIRG1
23 fungal esophagitis 10.1 ATP12A ATP4A
24 diclofenac allergy 10.1 ATP12A ATP4A
25 gastroduodenal crohn's disease 10.1 ATP12A ATP4A
26 neonatal candidiasis 10.1 ATP12A ATP4A
27 photoallergic dermatitis 10.1 ATP12A ATP4A
28 squamous papillomatosis 10.1 ATP12A ATP4A
29 toxic megacolon 10.1 ATP12A ATP4A
30 aspiration pneumonitis 10.1 ATP12A ATP4A
31 gastrointestinal neuroendocrine benign tumor 10.1 ATP12A ATP4A
32 gastric antral vascular ectasia 10.1 ATP12A ATP4A
33 granulomatous gastritis 10.1 ATP12A ATP4A
34 esophageal candidiasis 10.1 ATP12A ATP4A
35 gastric neuroendocrine neoplasm 10.1 ATP12A ATP4A
36 acute laryngitis 10.1 ATP12A ATP4A
37 laryngitis 10.0 ATP12A ATP4A
38 sjogren syndrome 10.0
39 liver disease 10.0
40 pancreas adenocarcinoma 10.0
41 cholangitis 10.0
42 autoimmune retinopathy 10.0
43 duodenitis 10.0 ATP12A ATP4A
44 rumination disorder 10.0 ATP12A ATP4A
45 active peptic ulcer disease 10.0 ATP12A ATP4A
46 congenital disorder of deglycosylation 10.0 ATP12A ATP4A
47 bladder calculus 10.0 ATP12A ATP4A
48 ischemic neuropathy 10.0 ATP12A ATP4A
49 bile reflux 10.0 ATP12A ATP4A
50 capillary disease 10.0 ATP12A ATP4A

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 3:



Diseases related to Osteopetrosis, Autosomal Recessive 3

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 3

Human phenotypes related to Osteopetrosis, Autosomal Recessive 3:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
2 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
8 aseptic necrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010885
9 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
10 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
11 abnormality of the renal tubule 60 33 hallmark (90%) Very frequent (99-80%) HP:0000091
12 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
13 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
14 osteopetrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011002
15 cerebral calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002514
16 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
17 dental malocclusion 60 33 frequent (33%) Frequent (79-30%) HP:0000689
18 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
19 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
20 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
21 abnormality of dental morphology 60 33 frequent (33%) Frequent (79-30%) HP:0006482
22 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
23 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
24 short stature 33 HP:0004322
25 periodic hypokalemic paresis 33 HP:0008153
26 visual loss 33 HP:0000572
27 cranial hyperostosis 33 HP:0004437
28 hepatosplenomegaly 33 HP:0001433
29 optic nerve compression 33 HP:0007807
30 distal renal tubular acidosis 33 HP:0008341
31 extramedullary hematopoiesis 33 HP:0001978
32 basal ganglia calcification 33 HP:0002135
33 diaphyseal sclerosis 33 HP:0003034
34 elevated serum acid phosphatase 33 HP:0003148

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
dental malocclusion
cranial hyperostosis
visual impairment from optic nerve compression

Heme:
anemia
extramedullary hematopoiesis

G I:
hepatosplenomegaly

Neuro:
basal ganglion calcification
normal intelligence or mental retardation

Misc:
onset in first 2 years with fractures

Growth:
short stature

Lab:
periodic hypokalemic paresis
elevated serum acid phosphatase
renal tubular acidosis, type i
osteoclasts fail to form 'ruffled membranes' characteristic of active bone resorbing cells
carbonic anhydrase ii defect

Limbs:
diaphyseal sclerosis

Skel:
osteosclerosis

Clinical features from OMIM:

259730

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 AQP2 ATP12A ATP4A ATP6V1B1 CA2 CA4
2 renal/urinary system MP:0005367 9.43 AQP2 ATP12A ATP6V1B1 CA2 CLCN7 SLC12A3
3 skeleton MP:0005390 9.02 ATP6V1B1 CA2 CLCN7 CSF1 TCIRG1

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 3

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 3

Genetic Tests for Osteopetrosis, Autosomal Recessive 3

Genetic tests related to Osteopetrosis, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Osteopetrosis with Renal Tubular Acidosis 30 CA2

Anatomical Context for Osteopetrosis, Autosomal Recessive 3

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 3:

42
Bone, Brain, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 3

Articles related to Osteopetrosis, Autosomal Recessive 3:

# Title Authors Year
1
Osteopetrosis with renal tubular acidosis and cerebral calcification. ( 29571443 )
2018
2
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype- phenotype correlation. ( 15300855 )
2004
3
Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. ( 3081869 )
1986
4
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. ( 3925334 )
1985
5
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. ( 6405388 )
1983

Variations for Osteopetrosis, Autosomal Recessive 3

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 3:

76
# Symbol AA change Variation ID SNP ID
1 CA2 p.Gln92Pro VAR_001381 rs130416027
2 CA2 p.His107Tyr VAR_001382 rs118203933
3 CA2 p.His94Tyr VAR_021009
4 CA2 p.Gly144Arg VAR_021010

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 3:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 CA2 NM_000067.2(CA2): c.707C> A (p.Pro236His) single nucleotide variant Pathogenic rs118203932 GRCh37 Chromosome 8, 86392942: 86392942
2 CA2 NM_000067.2(CA2): c.707C> A (p.Pro236His) single nucleotide variant Pathogenic rs118203932 GRCh38 Chromosome 8, 85480713: 85480713
3 CA2 NM_000067.2(CA2): c.52A> G (p.Lys18Glu) single nucleotide variant Pathogenic rs118203931 GRCh38 Chromosome 8, 85465289: 85465289
4 CA2 NM_000067.2(CA2): c.52A> G (p.Lys18Glu) single nucleotide variant Pathogenic rs118203931 GRCh37 Chromosome 8, 86377518: 86377518
5 CA2 NM_000067.2(CA2): c.754A> G (p.Asn252Asp) single nucleotide variant Likely benign rs2228063 GRCh37 Chromosome 8, 86392989: 86392989
6 CA2 NM_000067.2(CA2): c.754A> G (p.Asn252Asp) single nucleotide variant Likely benign rs2228063 GRCh38 Chromosome 8, 85480760: 85480760
7 CA2 NM_000067.2(CA2): c.319C> T (p.His107Tyr) single nucleotide variant Pathogenic rs118203933 GRCh37 Chromosome 8, 86386008: 86386008
8 CA2 NM_000067.2(CA2): c.319C> T (p.His107Tyr) single nucleotide variant Pathogenic rs118203933 GRCh38 Chromosome 8, 85473779: 85473779
9 CA2 CA2, IVS5AS, G-C, -1 single nucleotide variant Pathogenic
10 CA2 CA2, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
11 CA2 NM_000067.2(CA2): c.120T> G (p.Tyr40Ter) single nucleotide variant Pathogenic rs118203934 GRCh37 Chromosome 8, 86377586: 86377586
12 CA2 NM_000067.2(CA2): c.120T> G (p.Tyr40Ter) single nucleotide variant Pathogenic rs118203934 GRCh38 Chromosome 8, 85465357: 85465357
13 CA2 CA2, 1-BP DEL, 207C deletion Pathogenic
14 CA2 NM_000067.2(CA2): c.562T> C (p.Leu188=) single nucleotide variant Benign rs703 GRCh37 Chromosome 8, 86389403: 86389403
15 CA2 NM_000067.2(CA2): c.562T> C (p.Leu188=) single nucleotide variant Benign rs703 GRCh38 Chromosome 8, 85477174: 85477174
16 CA2 NM_000067.2(CA2): c.232+1G> A single nucleotide variant Pathogenic rs573750741 GRCh37 Chromosome 8, 86377699: 86377699
17 CA2 NM_000067.2(CA2): c.232+1G> A single nucleotide variant Pathogenic rs573750741 GRCh38 Chromosome 8, 85465470: 85465470
18 CA2 NM_000067.2(CA2): c.-130C> A single nucleotide variant Uncertain significance rs570970117 GRCh37 Chromosome 8, 86376181: 86376181
19 CA2 NM_000067.2(CA2): c.-130C> A single nucleotide variant Uncertain significance rs570970117 GRCh38 Chromosome 8, 85463952: 85463952
20 CA2 NM_000067.2(CA2): c.-84_-82dupCCC duplication Uncertain significance rs886063147 GRCh37 Chromosome 8, 86376227: 86376229
21 CA2 NM_000067.2(CA2): c.-84_-82dupCCC duplication Uncertain significance rs886063147 GRCh38 Chromosome 8, 85463998: 85464000
22 CA2 NM_000067.2(CA2): c.508-7G> A single nucleotide variant Uncertain significance rs886063149 GRCh37 Chromosome 8, 86389342: 86389342
23 CA2 NM_000067.2(CA2): c.508-7G> A single nucleotide variant Uncertain significance rs886063149 GRCh38 Chromosome 8, 85477113: 85477113
24 CA2 NM_000067.2(CA2): c.*374A> G single nucleotide variant Uncertain significance rs886063151 GRCh37 Chromosome 8, 86393392: 86393392
25 CA2 NM_000067.2(CA2): c.*374A> G single nucleotide variant Uncertain significance rs886063151 GRCh38 Chromosome 8, 85481163: 85481163
26 CA2 NM_000067.2(CA2): c.*465A> C single nucleotide variant Uncertain significance rs886063152 GRCh37 Chromosome 8, 86393483: 86393483
27 CA2 NM_000067.2(CA2): c.*465A> C single nucleotide variant Uncertain significance rs886063152 GRCh38 Chromosome 8, 85481254: 85481254
28 CA2 NM_000067.2(CA2): c.-176C> T single nucleotide variant Uncertain significance rs886063146 GRCh37 Chromosome 8, 86376135: 86376135
29 CA2 NM_000067.2(CA2): c.-176C> T single nucleotide variant Uncertain significance rs886063146 GRCh38 Chromosome 8, 85463906: 85463906
30 CA2 NM_000067.2(CA2): c.-138G> A single nucleotide variant Uncertain significance rs557422827 GRCh37 Chromosome 8, 86376173: 86376173
31 CA2 NM_000067.2(CA2): c.-138G> A single nucleotide variant Uncertain significance rs557422827 GRCh38 Chromosome 8, 85463944: 85463944
32 CA2 NM_000067.2(CA2): c.*17G> A single nucleotide variant Uncertain significance rs140653628 GRCh37 Chromosome 8, 86393035: 86393035
33 CA2 NM_000067.2(CA2): c.*17G> A single nucleotide variant Uncertain significance rs140653628 GRCh38 Chromosome 8, 85480806: 85480806
34 CA2 NM_000067.2(CA2): c.-53G> T single nucleotide variant Uncertain significance rs886063148 GRCh37 Chromosome 8, 86376258: 86376258
35 CA2 NM_000067.2(CA2): c.-53G> T single nucleotide variant Uncertain significance rs886063148 GRCh38 Chromosome 8, 85464029: 85464029
36 CA2 NM_000067.2(CA2): c.539C> T (p.Pro180Leu) single nucleotide variant Uncertain significance rs886063150 GRCh37 Chromosome 8, 86389380: 86389380
37 CA2 NM_000067.2(CA2): c.539C> T (p.Pro180Leu) single nucleotide variant Uncertain significance rs886063150 GRCh38 Chromosome 8, 85477151: 85477151
38 CA2 NM_000067.2(CA2): c.40G> A (p.Glu14Lys) single nucleotide variant Uncertain significance rs758659684 GRCh37 Chromosome 8, 86377506: 86377506
39 CA2 NM_000067.2(CA2): c.40G> A (p.Glu14Lys) single nucleotide variant Uncertain significance rs758659684 GRCh38 Chromosome 8, 85465277: 85465277
40 CA2 NM_000067.2(CA2): c.648C> T (p.Ser216=) single nucleotide variant Uncertain significance rs376387073 GRCh37 Chromosome 8, 86389489: 86389489
41 CA2 NM_000067.2(CA2): c.648C> T (p.Ser216=) single nucleotide variant Uncertain significance rs376387073 GRCh38 Chromosome 8, 85477260: 85477260
42 CA2 NM_000067.2(CA2): c.*212A> G single nucleotide variant Likely benign rs73263450 GRCh37 Chromosome 8, 86393230: 86393230
43 CA2 NM_000067.2(CA2): c.*212A> G single nucleotide variant Likely benign rs73263450 GRCh38 Chromosome 8, 85481001: 85481001
44 CA2 NM_000067.2(CA2): c.*303C> T single nucleotide variant Uncertain significance rs150089617 GRCh37 Chromosome 8, 86393321: 86393321
45 CA2 NM_000067.2(CA2): c.*303C> T single nucleotide variant Uncertain significance rs150089617 GRCh38 Chromosome 8, 85481092: 85481092
46 CA2 NM_000067.2(CA2): c.*562T> C single nucleotide variant Uncertain significance rs886063153 GRCh37 Chromosome 8, 86393580: 86393580
47 CA2 NM_000067.2(CA2): c.*562T> C single nucleotide variant Uncertain significance rs886063153 GRCh38 Chromosome 8, 85481351: 85481351
48 CA2 NM_000067.2(CA2): c.-181A> T single nucleotide variant Benign rs11261477 GRCh37 Chromosome 8, 86376130: 86376130
49 CA2 NM_000067.2(CA2): c.-181A> T single nucleotide variant Benign rs11261477 GRCh38 Chromosome 8, 85463901: 85463901
50 CA2 NM_000067.2(CA2): c.21C> A (p.Tyr7Ter) single nucleotide variant Pathogenic rs1554709677 GRCh37 Chromosome 8, 86376331: 86376331

Expression for Osteopetrosis, Autosomal Recessive 3

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 3.

Pathways for Osteopetrosis, Autosomal Recessive 3

Pathways related to Osteopetrosis, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 AQP2 ATP12A ATP4A ATP6V1B1 CLCN7 SLC12A3
2
Show member pathways
12 ATP4A ATP6V1B1 CA2 TCIRG1
3
Show member pathways
11.85 ATP12A ATP4A ATP6V1B1 CLCN7 TCIRG1
4 11.46 ATP6V1B1 CSF1 TCIRG1
5 10.73 CA2 CA4
6
Show member pathways
10.39 CA1 CA2 CA3 CA4

GO Terms for Osteopetrosis, Autosomal Recessive 3

Cellular components related to Osteopetrosis, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 AQP2 ATP6V1B1 CA1 CA2 CA4 SLC12A3
2 apical plasma membrane GO:0016324 9.35 AQP2 ATP6V1B1 CA4 SLC12A3 TCIRG1
3 transport vesicle membrane GO:0030658 9.32 AQP2 CA4
4 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.16 ATP6V1B1 TCIRG1
5 basolateral plasma membrane GO:0016323 9.02 AQP2 ATP12A ATP6V1B1 CA2 CA4

Biological processes related to Osteopetrosis, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.67 ATP12A ATP4A SLC12A3
2 ion transport GO:0006811 9.63 ATP12A ATP4A ATP6V1B1 CLCN7 SLC12A3 TCIRG1
3 excretion GO:0007588 9.55 AQP2 ATP6V1B1
4 transferrin transport GO:0033572 9.54 ATP6V1B1 TCIRG1
5 positive regulation of osteoclast differentiation GO:0045672 9.52 CA2 CSF1
6 regulation of pH GO:0006885 9.51 ATP12A ATP6V1B1
7 cellular sodium ion homeostasis GO:0006883 9.48 ATP12A ATP4A
8 potassium ion homeostasis GO:0055075 9.46 ATP12A SLC12A3
9 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.43 ATP12A ATP4A
10 potassium ion import across plasma membrane GO:1990573 9.43 ATP12A ATP4A SLC12A3
11 cellular potassium ion homeostasis GO:0030007 9.4 ATP12A ATP4A
12 sodium ion export across plasma membrane GO:0036376 9.37 ATP12A ATP4A
13 response to pH GO:0009268 9.32 CA2 CLCN7
14 bicarbonate transport GO:0015701 9.26 CA1 CA2 CA3 CA4
15 ATP hydrolysis coupled proton transport GO:0015991 8.92 ATP12A ATP4A ATP6V1B1 TCIRG1

Molecular functions related to Osteopetrosis, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.37 ATP6V1B1 TCIRG1
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.32 ATP12A ATP4A
3 arylesterase activity GO:0004064 9.26 CA1 CA2
4 lyase activity GO:0016829 9.26 CA1 CA2 CA3 CA4
5 potassium:proton exchanging ATPase activity GO:0008900 9.16 ATP12A ATP4A
6 carbonate dehydratase activity GO:0004089 8.92 CA1 CA2 CA3 CA4

Sources for Osteopetrosis, Autosomal Recessive 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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