S.NO	Uniprot ID	Protein Name	Sequence Length	CUB Repeats region	Disease
1	Q9UGM3	Deleted in malignant brain tumors 1 protein	2413	DOMAIN 1766 1877 CUB 1 DOMAIN 2008 2117 CUB 2	"DISEASE: Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene represented in this entry is involved in disease pathogenesis. Homozygous deletions may be the predominant mechanism of DMBT1 inactivation playing a role in carcinogenesis. DMBT1 is deleted in medulloblastoma and glioblastoma cell lines; point mutations have also been reported in patients with glioma. A loss or reduction of DMBT1 expression has been seen in esophageal, gastric, lung and colorectal carcinomas as well".
2	P13497	Bone morphogenetic protein 1	986	DOMAIN 322 434 CUB 1 DOMAIN 435 546 CUB 2 DOMAIN 591 703 CUB 3 DOMAIN 747 859 CUB 4 DOMAIN 860 976 CUB 5	"DISEASE: Osteogenesis imperfecta 13 (OI13) [MIM:614856]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. Note=The disease is caused by mutations affecting the gene represented in this entry".
3	O60494	Cubilin	3623	DOMAIN 474 586 CUB 1 DOMAIN 590 702 CUB 2 DOMAIN 708 816 CUB 3 DOMAIN 816 928 CUB 4 DOMAIN 932 1042 CUB 5 DOMAIN 1048 1161 CUB 6 DOMAIN 1165 1277 CUB 7 DOMAIN 1278 1389 CUB 8 DOMAIN 1391 1506 CUB 9 DOMAIN 1510 1619 CUB 10 DOMAIN 1620 1734 CUB 11 DOMAIN 1738 1850 CUB 12 DOMAIN 1852 1963 CUB 13 DOMAIN 1978 2091 CUB 14 DOMAIN 2092 2213 CUB 15 DOMAIN 2217 2334 CUB 16 DOMAIN 2336 2448 CUB 17 DOMAIN 2452 2565 CUB 18 DOMAIN 2570 2687 CUB 19 DOMAIN 2689 2801 CUB 20 DOMAIN 2805 2919 CUB 21 DOMAIN 2920 3035 CUB 22 DOMAIN 3037 3150 CUB 23 DOMAIN 3157 3274 CUB 24 DOMAIN 3278 3393 CUB 25 DOMAIN 3395 3507 CUB 26 DOMAIN 3511 3623 CUB 27	DISEASE: Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. Note=The disease is caused by mutations affecting the gene represented in this entry.
4	Q9BY79	Membrane frizzled-related protein	579	DOMAIN 144 253 CUB 1 DOMAIN 301 414 CUB 2	"DISEASE: Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Note=The disease is caused by mutations affecting the gene represented in this entry".
5	O43897	Tolloid-like protein 1	1013	DOMAIN 349 461 CUB 1 DOMAIN 462 574 CUB 2 DOMAIN 618 730 CUB 3 DOMAIN 774 886 CUB 4 DOMAIN 887 1003 CUB 5	DISEASE: Atrial septal defect 6 (ASD6) [MIM:613087]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Note=The disease is caused by mutations affecting the gene represented in this entry.
6	P09871	Complement C1s subcomponent	688	DOMAIN 16 130 CUB 1 DOMAIN 175 290 CUB 2	"DISEASE: Complement component C1s deficiency (C1SD) [MIM:613783]: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2) [MIM:617174]: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance. Note=The disease is caused by mutations affecting the gene represented in this entry".
7	O00187	Mannan-binding lectin serine protease 2	686	DOMAIN 16 137 CUB 1 DOMAIN 184 296 CUB 2	"DISEASE: MASP2 deficiency (MASPD) [MIM:613791]: A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease. Note=The disease is caused by mutations affecting the gene represented in this entry".
8	P00736	Complement C1r subcomponent	705	DOMAIN 18 141 CUB 1 DOMAIN 193 305 CUB 2	"DISEASE: Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry".
9	P48740	Mannan-binding lectin serine protease 1	699	DOMAIN 20 138 CUB 1 DOMAIN 185 297 CUB 2	"DISEASE: 3MC syndrome 1 (3MC1) [MIM:257920]: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. Note=The disease is caused by mutations affecting the gene represented in this entry".
10	Q7Z7M0	Multiple epidermal growth factor-like domains protein 8	2845	DOMAIN 30 140 CUB 1 DOMAIN 1263 1405 CUB 2	"DISEASE: Carpenter syndrome 2 (CRPT2) [MIM:614976]: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Note=The disease is caused by mutations affecting the gene represented in this entry".
11	P98073	Enteropeptidase	1019	DOMAIN 225 334 CUB 1 DOMAIN 524 634 CUB 2	DISEASE: Enterokinase deficiency (ENTKD) [MIM:226200]: Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive. Note=The disease is caused by mutations affecting the gene represented in this entry.
12	Q76LX8	A disintegrin and metalloproteinase with thrombospondin motifs 13	1427	DOMAIN 1192 1298 CUB 1 DOMAIN 1299 1427 CUB 2	"DISEASE: Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]: A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. recessive. Note=The disease is caused by mutations affecting the gene represented in this entry".
13	Q8IU80	Transmembrane protease serine 6	811	DOMAIN 213 336 CUB 1 DOMAIN 335 452 CUB 2	"DISEASE: Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]: Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to elevated levels of hepcidin, a negative regulator of plasma iron pool (PubMed:20232450)".
14	Q9Y5Y6	Suppressor of tumorigenicity 14 protein	855	DOMAIN 214 334 CUB 1 DOMAIN 340 447 CUB 2	"DISEASE: Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. Note=The disease is caused by mutations affecting the gene represented in this entry".

The 14 CUB Repeats and their disease