Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8029
Gene name	Cubilin
Gene symbol	CUBN
Synonyms (NCBI Gene)	IFCRIGSIGS1MGA1gp280
Chromosome	10
Chromosome location	10p13
Summary	Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autos

Show/Hide all (59)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11254385	C>A	Likely-pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant
rs117620008	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs121434430	G>A	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs137998687	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs140970422	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141640975	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs143944436	G>A	Pathogenic	Stop gained, coding sequence variant
rs145661597	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs145818316	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs146047781	A>G	Conflicting-interpretations-of-pathogenicity	Splice donor variant, genic upstream transcript variant
rs148869805	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs182512508	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, stop gained, genic upstream transcript variant
rs201720797	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs374417889	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs374695194	G>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs386833766	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs386833767	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833768	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833769	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs386833770	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833771	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833772	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833773	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833774	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833775	CCTACAGGTTCTTTCTCCA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833776	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs386833777	CT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833778	G>A,C,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant, stop gained
rs386833779	G>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, synonymous variant
rs386833780	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833781	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833782	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs386833783	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833784	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833785	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833786	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833787	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833788	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833789	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs386833790	A>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833791	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs747417629	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs754704005	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs757649673	AACCTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs764379478	C>A,T	Likely-pathogenic	Splice acceptor variant
rs765301342	GGTA>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs770921101	CGAAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1168074679	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1205598688	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1554790861	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554816715	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1564379463	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1564435513	T>G	Likely-pathogenic	Splice acceptor variant
rs1564435943	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564443979	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564492988	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1564516701	AACA>-	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1588511533	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1588639188	C>A	Likely-pathogenic	Splice acceptor variant

141

Show/Hide all (141)

miRTarBase ID	miRNA	Experiments	Reference
MIRT709694	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT709693	hsa-miR-140-5p	HITS-CLIP	19536157
MIRT709692	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709691	hsa-miR-3652	HITS-CLIP	19536157
MIRT709690	hsa-miR-4430	HITS-CLIP	19536157
MIRT645146	hsa-miR-3973	HITS-CLIP	23824327
MIRT645145	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645144	hsa-miR-520h	HITS-CLIP	23824327
MIRT645143	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645141	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT645142	hsa-miR-607	HITS-CLIP	23824327
MIRT709694	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT709693	hsa-miR-140-5p	HITS-CLIP	19536157
MIRT709692	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709691	hsa-miR-3652	HITS-CLIP	19536157
MIRT709690	hsa-miR-4430	HITS-CLIP	19536157
MIRT645146	hsa-miR-3973	HITS-CLIP	23824327
MIRT645145	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645144	hsa-miR-520h	HITS-CLIP	23824327
MIRT645143	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645141	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT645142	hsa-miR-607	HITS-CLIP	23824327
MIRT916345	hsa-miR-1245	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916347	hsa-miR-125a-3p	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT916351	hsa-miR-370	CLIP-seq
MIRT916352	hsa-miR-371-5p	CLIP-seq
MIRT916353	hsa-miR-371b-5p	CLIP-seq
MIRT916354	hsa-miR-3934	CLIP-seq
MIRT916355	hsa-miR-3977	CLIP-seq
MIRT916356	hsa-miR-4423-5p	CLIP-seq
MIRT916357	hsa-miR-4474-5p	CLIP-seq
MIRT916358	hsa-miR-4714-3p	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT916365	hsa-miR-764	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971761	hsa-miR-27a	CLIP-seq
MIRT1971762	hsa-miR-27b	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT1971765	hsa-miR-4269	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT916356	hsa-miR-4423-5p	CLIP-seq
MIRT1971768	hsa-miR-4438	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT1971770	hsa-miR-4505	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT1971773	hsa-miR-5095	CLIP-seq
MIRT1971774	hsa-miR-513a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT1971775	hsa-miR-944	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT2207465	hsa-miR-1234	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT2207466	hsa-miR-150	CLIP-seq
MIRT2207467	hsa-miR-2681	CLIP-seq
MIRT2207468	hsa-miR-297	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT916352	hsa-miR-371-5p	CLIP-seq
MIRT916353	hsa-miR-371b-5p	CLIP-seq
MIRT1971765	hsa-miR-4269	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT1971768	hsa-miR-4438	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT916357	hsa-miR-4474-5p	CLIP-seq
MIRT916358	hsa-miR-4714-3p	CLIP-seq
MIRT2207469	hsa-miR-4757-5p	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971773	hsa-miR-5095	CLIP-seq
MIRT2207470	hsa-miR-512-3p	CLIP-seq
MIRT2207471	hsa-miR-567	CLIP-seq
MIRT1971775	hsa-miR-944	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001894	Process	Tissue homeostasis	NAS	11994745
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	14576052, 20237569, 30523278
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IEA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	NAS	11994745
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009235	Process	Cobalamin metabolic process	IDA	14576052
GO:0009617	Process	Response to bacterium	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015889	Process	Cobalamin transport	IDA	14576052
GO:0015889	Process	Cobalamin transport	TAS	10080186
GO:0016020	Component	Membrane	IDA	14576052
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9478979
GO:0016324	Component	Apical plasma membrane	IDA	14576052
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	NAS	14576052
GO:0030139	Component	Endocytic vesicle	IDA	14576052
GO:0030139	Component	Endocytic vesicle	IEA
GO:0031232	Component	Extrinsic component of external side of plasma membrane	NAS	11994745
GO:0031253	Component	Cell projection membrane	IEA
GO:0031419	Function	Cobalamin binding	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031526	Component	Brush border membrane	NAS	11994745
GO:0031528	Component	Microvillus membrane	IDA	14576052
GO:0031528	Component	Microvillus membrane	IEA
GO:0038023	Function	Signaling receptor activity	TAS	10080186
GO:0038024	Function	Cargo receptor activity	EXP	14576052, 20237569, 30523278
GO:0038024	Function	Cargo receptor activity	IDA	14576052
GO:0038024	Function	Cargo receptor activity	TAS	9478979
GO:0042803	Function	Protein homodimerization activity	IDA	10552972
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043235	Component	Receptor complex	IPI	30523278
GO:0043235	Component	Receptor complex	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674

MIM	HGNC	e!Ensembl
602997	2548	ENSG00000107611

O60494

Protein name

Cubilin (460 kDa receptor) (Intestinal intrinsic factor receptor) (Intrinsic factor-cobalamin receptor) (Intrinsic factor-vitamin B12 receptor)

Protein function

Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:10371504, PubMed:11606717, PubMed:11717447, PubMed:14576052, PubMed:9572993). Acts together with LRP2 to mediate endocytosis o

PDB

3KQ4 , 6GJE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00008	EGF	136 → 166	EGF-like domain	Domain
PF07645	EGF_CA	170 → 217	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	263 → 303	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	305 → 347	Calcium-binding EGF domain	Domain
PF12947	EGF_3	353 → 388	EGF domain	Domain
PF00008	EGF	399 → 428	EGF-like domain	Domain
PF00008	EGF	436 → 466	EGF-like domain	Domain
PF00431	CUB	474 → 583	CUB domain	Domain
PF00431	CUB	590 → 699	CUB domain	Domain
PF00431	CUB	708 → 813	CUB domain	Domain
PF00431	CUB	817 → 925	CUB domain	Domain
PF00431	CUB	932 → 1039	CUB domain	Domain
PF00431	CUB	1048 → 1158	CUB domain	Domain
PF00431	CUB	1165 → 1274	CUB domain	Domain
PF00431	CUB	1278 → 1386	CUB domain	Domain
PF00431	CUB	1391 → 1503	CUB domain	Domain
PF00431	CUB	1510 → 1616	CUB domain	Domain
PF00431	CUB	1620 → 1731	CUB domain	Domain
PF00431	CUB	1738 → 1847	CUB domain	Domain
PF00431	CUB	1852 → 1960	CUB domain	Domain
PF00431	CUB	1978 → 2088	CUB domain	Domain
PF00431	CUB	2092 → 2210	CUB domain	Domain
PF00431	CUB	2217 → 2331	CUB domain	Domain
PF00431	CUB	2336 → 2445	CUB domain	Domain
PF00431	CUB	2452 → 2562	CUB domain	Domain
PF00431	CUB	2570 → 2684	CUB domain	Domain
PF00431	CUB	2689 → 2798	CUB domain	Domain
PF00431	CUB	2805 → 2916	CUB domain	Domain
PF00431	CUB	2920 → 3032	CUB domain	Domain
PF00431	CUB	3037 → 3147	CUB domain	Domain
PF00431	CUB	3157 → 3271	CUB domain	Domain
PF00431	CUB	3278 → 3390	CUB domain	Domain
PF00431	CUB	3395 → 3504	CUB domain	Domain
PF00431	CUB	3511 → 3621	CUB domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in kidney cortex (at protein level) (PubMed:9572993). Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney. {ECO:0

Sequence

MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQN
IEFRTGSLGKIKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDL
ERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGT
PLSCQNGGTCVNTMGSYSCHCPPETYGPQCASKYDDCEGGSVARCVHGICEDLMREQAGE
PKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNG
YICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGC
HPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKC
DSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSG
INGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMDNCPHEFLQVYDGDSS
SAFQLGRFCGSSLPHELLSSDNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGS
IKSPGYPGNYPPGRDCVWIVVTSPDLLVTFTFGTLSLEHHDDCNKDYLEIRDGPLYQDPL
LGKFCTTFSVPPLQTTGPFARIHFHSDSQISDQGFHITYLTSPSDLRCGGNYTDPEGELF
LPELSGPFTHTRQCVYMMKQPQGEQIQINFTHVELQCQSDSSQNYIEVRDGETLLGKVCG
NGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEGVIRSPFFPNVYPGER
TCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFIT
SVYNFLYVTFVKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTW
HILVQPNHLIHLMFETFHLEFHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSL
MLVFVTDSDLAYEGFLINYEAISAATACLQDYTDDLGTFTSPNFPNNYPNNWECIYRITV
RTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLLGIFYGSNLPPTIISHSNKLW
LKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSECYWWLKSSHG
SAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLR
TDEGQQGRGFKAEYRQTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNY
TFLAFDLEHHINCSTDYLELYDGPRQMGRYCGVDLPPPGSTTSSKLQVLLLTDGVGRREK
GFQMQWFVYGCGGELSGATGSFSSPGFPNRYPPNKECIWYIRTDPGSSIQLTIHDFDVEY
HSRCNFDVLEIYGGPDFHSPRIAQLCTQRSPENPMQVSSTGNELAIRFKTDLSINGRGFN
ASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVIRVDRNHRVLLNFTDFDLEPQ
DSCIMAYDGLSSTMSRLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNRGFRAQFRQAC
GGHILTSSFDTVSSPRFPANYPNNQNCSWIIQAQPPLNHITLSFTHFELERSTTCARDFV
EILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAGGFHTTVTASVSACGG
TFYMAEGIFNSPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIRE
GNATGHLVGRYCGNSFPLNYSSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTH
GKVASPFWPENYPHNSNYQWTVNVNASHVVHGRILEMDIEEIQNCYYDKLRIYDGPSIHA
RLIGAYCGTQTESFSSTGNSLTFHFYSDSSISGKGFLLEWFAVDAPDGVLPTIAPGACGG
FLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLDIESHRTCAYDSLVIR
DGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADR
GIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPD
ICSPPLGPPGGNGHFCGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGN
VYIHDADSAGYVTSPNHPHNYPPHADCIWILAAPPETRIQLQFEDRFDIEVTPNCTSNYL
ELRDGVDSDAPILSKFCGTSLPSSQWSSGEVMYLRFRSDNSPTHVGFKAKYSIAQCGGRV
PGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFEDFNLQNSSGCEKDFVEIWDN
HTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSMEECGGDLQGSI
GTFTSPNYPNPNPHGRICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNS
PQLEKLCSSVNVSNEIKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGSLPNTPEG
NFTSPGYDGVRNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESHQDCQFDVLEFRVGDA
DGPLMWRLCGPSKPTLPLVIPYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVI
TSPNYPNAYDSLTHCSSLLEAPQGHTITLTFSDFDIEPHTTCAWDSVTVRNGGSPESPII
GQYCGNSNPRTIQSGSNQLVVTFNSDHSLQGGGFYATWNTQTLGCGGIFHSDNGTIRSPH
WPQNFPENSRCSWTAITHKSKHLEISFDNNFLIPSGDGQCQNSFVKVWAGTEEVDKALLA
TGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFTGPSGYIISPNYPKQY
DNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCG
DEMPAPLTIAGPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPN
DMHCLYTITVSDDKVIELKFSDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPN
VKSSNNSMLLVFKTDSFQTAKGWKMSFRQTLGPQQGCGGYLTGSNNTFASPDSDSNGMYD
KNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYVKLYDGDSENANLAGTFCGST
VPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQNISSPNSSDPD
VPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASA
VPVFYSSMSTAMVIFKSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKD
CTVTLTAPQNHTISLFFHSLGIENSVECRNDFLEVRNGSNSNSPLLGKYCGTLLPNPVFS
QNNELYLRFKSDSVTSDRGYEIIWTSSPSGCGGTLYGDRGSFTSPGYPGTYPNNTYCEWV
LVAPAGRLVTINFYFISIDDPGDCVQNYLTLYDGPNASSPSSGPYCGGDTSIAPFVASSN
QVFIKFHADYARRPSAFRLTWDS

Sequence length

3623

Interactions

View interactions

	KEGG		Reactome
	Vitamin digestion and absorption		Cobalamin (Cbl, vitamin B12) transport and metabolism Vitamin D (calciferol) metabolism Defective AMN causes hereditary megaloblastic anemia 1 Defective CUBN causes hereditary megaloblastic anemia 1 HDL clearance

2590

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs143944436	RCV003313972
Chronic kidney disease	Likely pathogenic; Pathogenic	rs757649673	RCV004772856
CUBN-related disorder	Likely pathogenic; Pathogenic	rs757649673, rs1353402674, rs765616473, rs745987406, rs2491946890, rs143944436, rs137998687, rs752843169, rs765301342, rs374417889	RCV003927567 RCV003410060 RCV003404063 RCV003399747 RCV003947213 RCV003918139 RCV004742573 RCV003975295 RCV003918263 RCV003928668
Imerslund-Grasbeck syndrome	Likely pathogenic; Pathogenic	rs774493547, rs756427983, rs201426128, rs2131458386, rs1588646655, rs2131863686, rs2131869439, rs759203841, rs756614749, rs144484373, rs371489485, rs750520309, rs765941616, rs1841554531, rs2131400036 View all (87 more)	RCV001865832 RCV001377461 RCV001388387 RCV001388462 RCV001384774 RCV001389345 RCV001390307 RCV002568229 RCV003505186 RCV001868833 RCV002541305 RCV001991604 RCV001992370 RCV001955924 RCV001933765 RCV002046703 RCV000169656 RCV003076464 RCV003074441 RCV003077236 RCV003090727 RCV002607777 RCV002796228 RCV002842710 RCV002885016 RCV003014823 RCV003038209 RCV000049749 RCV003611657 RCV003611659 RCV003506145 RCV003506197 RCV003506441 RCV003506515 RCV003506570 RCV003505714 RCV003612498 RCV003611899 RCV003613509 RCV003612080 RCV003816967 RCV003814973 RCV003861804 RCV003873522 RCV000290525 RCV003611520 RCV000625651 RCV000625850 RCV000705555 RCV000693751 RCV000702873 RCV000698044 RCV000690027 RCV000721975 RCV000735733 RCV000735723 RCV000735728 RCV000735676 RCV000735762 RCV000735732 RCV000735780 RCV000778276 RCV000778277 RCV000826101 RCV000049730 RCV000049731 RCV000049732 RCV000049733 RCV000049734 RCV000049735 RCV000049736 RCV000049737 RCV000049738 RCV000049739 RCV000049740 RCV000049741 RCV000049742 RCV000049743 RCV000049744 RCV000049745 RCV000049746 RCV000049747 RCV000049748 RCV000049750 RCV000049751 RCV000049752 RCV000049753 RCV000049754 RCV000049755 RCV000049756 RCV000050203 RCV001029867 RCV001029890 RCV001029895 RCV001037142 RCV001040296 RCV001054115 RCV003505165 RCV001205838 RCV001206326 RCV001212584 RCV002570443
Imerslund-Grasbeck syndrome type 1	Likely pathogenic; Pathogenic	rs774493547, rs756427983, rs201426128, rs370038232, rs759203841, rs1161400848, rs756614749, rs144484373, rs371489485, rs767078847, rs750520309, rs2131845016, rs1399856074, rs757649673, rs776124003 View all (34 more)	RCV001535916 RCV005038163 RCV002499808 RCV001536056 RCV001536060 RCV001536066 RCV002478008 RCV002272497 RCV005040384 RCV002478041 RCV005032083 RCV002272122 RCV002471966 RCV001535838 RCV005034633 RCV001093723 RCV003337777 RCV005047817 RCV005038533 RCV005038597 RCV003387829 RCV004515787 RCV004566413 RCV004555255 RCV004555256 RCV000023226 RCV002476318 RCV001536070 RCV005046943 RCV005034310 RCV005046978 RCV005400464 RCV002493368 RCV005036079 RCV005036096 RCV001535845 RCV005031536 RCV002496724 RCV005042160 RCV001095373 RCV002490624 RCV002483066 RCV002054879 RCV002497349 RCV002481841 RCV001095372 RCV002497701 RCV002491652 RCV002499442
Proteinuria	Likely pathogenic; Pathogenic	rs757649673	RCV005625353
Proteinuria, chronic benign	Likely pathogenic; Pathogenic	rs774493547, rs756427983, rs201426128, rs370038232, rs759203841, rs1161400848, rs756614749, rs144484373, rs371489485, rs2131331380, rs767078847, rs750520309, rs2131845016, rs558840029, rs1399856074 View all (33 more)	RCV001535916 RCV005038163 RCV002499808 RCV001536056 RCV001536060 RCV001536066 RCV002478008 RCV005040373 RCV005040384 RCV001807888 RCV001807894 RCV005032083 RCV002272122 RCV002283884 RCV005032284 RCV001535838 RCV003236596 RCV005034633 RCV005041997 RCV003236661 RCV005047817 RCV005038533 RCV005038597 RCV005033861 RCV004595397 RCV002476318 RCV001536070 RCV005046943 RCV005034310 RCV005046978 RCV005400464 RCV002493368 RCV005036079 RCV001095375 RCV004788185 RCV005036096 RCV001535845 RCV005031536 RCV002496724 RCV005042160 RCV005042161 RCV002490624 RCV002483066 RCV002497349 RCV002481841 RCV002497701 RCV002491652 RCV001281293
See cases	Likely pathogenic; Pathogenic	rs2131606542, rs137998687	RCV002252979 RCV005901650
Thymoma	Likely pathogenic; Pathogenic	rs1349644537	RCV005927742

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs61841459, rs73592350, rs41289303	RCV005915212 RCV005920362 RCV005891819
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs139596037	RCV005891803
Cervical cancer	Benign	rs146027947	RCV005891808
Cholangiocarcinoma	Benign	rs780636	RCV005891799
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs141937843, rs146027947, rs11254278, rs201484266, rs143301088, rs41289303, rs75386064, rs75737363	RCV005891801 RCV005891809 RCV005891816 RCV005891800 RCV005891818 RCV005891820 RCV005898130 RCV005900091
Familial cancer of breast	Uncertain significance	rs770625165	RCV005901621
Focal segmental glomerulosclerosis	Uncertain significance	rs74844886	RCV004772890
Gastric cancer	Benign; Likely benign	rs73600202, rs146027947, rs11254278, rs41289303, rs117035284	RCV005915485 RCV005891810 RCV005891817 RCV005891821 RCV005900937
Hepatocellular carcinoma	Benign	rs146027947	RCV005891807
Lung cancer	Benign; Likely benign	rs73592350, rs140260072, rs117035284	RCV005920364 RCV005921111 RCV005900939
Malignant tumor of esophagus	Benign	rs17139747, rs11254278, rs1873469	RCV005919455 RCV005891815 RCV005891825
Megaloblastic anemia	Uncertain significance; Conflicting classifications of pathogenicity	rs558891678, rs772081536, rs752528712, rs886046878, rs886046866, rs886046869	RCV000322119 RCV000375849 RCV000393301 RCV000363766 RCV000379252 RCV000310104
Melanoma	Benign; Conflicting classifications of pathogenicity	rs146027947, rs139596037	RCV005891812 RCV005891806
Nonpapillary renal cell carcinoma	Benign	rs780636	RCV005891797
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs75312629, rs61841459, rs146027947, rs2271460, rs139596037, rs117035284	RCV005915968 RCV005915213 RCV005891811 RCV005891813 RCV005891804 RCV005900938
Papillary renal cell carcinoma type 1	Uncertain significance	rs145380076	RCV005930457
Sarcoma	Benign; Uncertain significance; Likely benign	rs73592350, rs1873469, rs75386064, rs117035284	RCV005920363 RCV005891826 RCV005898131 RCV005900936
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	rs2271460, rs1873469, rs139596037, rs41289303, rs780636	RCV005891814 RCV005891827 RCV005891805 RCV005891823 RCV005891798
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign	rs61841459, rs73592350, rs145380076, rs141937843	RCV005915214 RCV005920365 RCV005930458 RCV005891802
Uveal melanoma	Benign	rs2271463	RCV005891824

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	24533076
Acute Kidney Injury	Associate	22574174, 37789254
Albuminuria	Associate	19366958, 22574174, 23114252, 24052458, 25644490, 30547231, 31613795, 36926036, 37872228
Anemia	Associate	10887099
Anemia Megaloblastic	Associate	31438875
Bicuspid Aortic Valve Disease	Associate	36071494
Breast Neoplasms	Associate	18567755
Carcinogenesis	Associate	26959381
Carcinoma Renal Cell	Associate	28052770, 28260162, 35373928
Cardiovascular Diseases	Associate	24052458
Colorectal Neoplasms	Associate	31434255
Colorectal Neoplasms	Stimulate	33235183
Coronary Artery Disease	Associate	33004870
Coronary Disease	Associate	20855565
COVID 19	Associate	37789254
Death	Associate	31541730
Dent Disease	Associate	23572577
Diabetes Mellitus	Associate	19366958, 23114252, 30547231, 31630189, 36926036, 37446387
Diabetes Mellitus Type 1	Associate	19366958, 36926036
Diabetes Mellitus Type 2	Associate	30547231, 31630189, 36926036
Donnai Barrow syndrome	Associate	25822460
Drug Related Side Effects and Adverse Reactions	Associate	18448595
Fanconi Syndrome	Associate	28577559
Genetic Diseases Inborn	Associate	31613795
Glomerulosclerosis Focal Segmental	Associate	34979989
Heart Defects Congenital	Associate	24533076
Hypertension	Associate	31630189
Hyperuricemia	Associate	36583005
Imerslund Grasbeck syndrome	Associate	10887099, 15738392, 21750092, 22078000, 22929189, 26040326, 29402915, 30691194, 31613795, 34979989
Kidney Cortex Necrosis	Associate	25822460
Kidney Diseases	Associate	21903995, 30547231, 31438875
Kidney Failure Chronic	Associate	22574174
Kidney Neoplasms	Associate	28260162
Leukopenia	Associate	36275653
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	15738392
Multiple Myeloma	Associate	18448595
Neoplasms	Associate	22006429, 28052770, 28260162
Osteosarcoma	Associate	22006429
Pancreatic Neoplasms	Associate	23334854, 25799011
Proteinuria	Associate	21903995, 22574174, 30476138, 31438875, 31613795, 31793908, 34979989
Renal Insufficiency	Associate	22574174
Renal Insufficiency Chronic	Associate	22574174, 36926036
SeSAME syndrome	Associate	14990980
Sjogren's Syndrome	Inhibit	28577559
Sleep Apnea Obstructive	Associate	38008818
Stomach Neoplasms	Associate	26959381
Stroke	Associate	31630189
Tuberculosis Pulmonary	Associate	36275653
Vascular Diseases	Associate	31630189
Vitamin B 12 Deficiency	Associate	21903995, 25644490, 31613795

CUBN (cubilin)