AiPD: Autoinhibited Protein Database

P11226

Gene name	MBL2
Protein name	Mannose-binding protein C
Names	MBP-C, Collectin-1, MBP1, Mannan-binding protein, Mannose-binding lectin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4153
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

61-143 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

61-143 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for P11226

Entry ID	Method	Resolution	Chain	Position	Source
1HUP	X-ray	250 A	A	108-248	PDB
AF-P11226-F1	Predicted				AlphaFoldDB

225 variants for P11226

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001105837 rs1049360705 CA207457379	9	L>P	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA207457372 COSM1505291 rs201511397 RCV001105835	37	A>S	lung Variant assessed as Somatic; 0.0 impact. Mannose-binding lectin deficiency [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV001104674 CA5504428 rs1342494768	45	G>S	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000015426 RCV000991134 VAR_008543 rs5030737 CA123885 RCV002274881	52	R>C	Cystic fibrosis Mannose-binding lectin deficiency 0.05% of European and African populations [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1800450 RCV000015424 RCV002274880 RCV001777138 CA123877 VAR_004182	54	G>D	Mannose-binding lectin deficiency associated with low serum mannose-binding protein (MBP) concentrations and recurrent infections [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000374843 rs886047053 CA10635923	55	T>A	Variant assessed as Somatic; 0.0 impact. Mannose-binding lectin deficiency [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV000320152 rs886047052 CA10628696	56	K>E	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_004183 RCV000015425 RCV001642227 rs1800451 CA123881 RCV000455297	57	G>E	Mannose-binding lectin deficiency associated with low serum mannose-binding protein (MBP) concentrations; associated with protection against tuberculosis caused by Mycobacterium africanum [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5504378 RCV000373660 rs143562102 COSM918878	101	P>L	Variant assessed as Somatic; 0.0 impact. endometrium Mannose-binding lectin deficiency [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA5504310 rs149216902 RCV001332301	150	K>T	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200749792 CA5504302 RCV001102751	164	T>P	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs8191996 RCV000912398 CA5504298 RCV001102750	176	N>S	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs756763361 RCV001102748	194	Q>K	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinVar dbSNP
rs74754826 RCV000883897 RCV000778285 CA5504280	210	E>*	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002556113 rs780449116 RCV001107984 CA5504275	219	D>V	Inborn genetic diseases Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5504258 rs776003487 RCV001107983	245	E>K	Mannose-binding lectin deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	5	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376540313 rs1218451038	5	P>T		No	ClinGen gnomAD
TCGA novel	8	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482691555 CA376540291	8	P>L		No	ClinGen gnomAD
rs1482691555 CA376540293	8	P>R		No	ClinGen gnomAD
rs150611863 CA5504451	8	P>S		No	ClinGen ESP ExAC TOPMed
rs1251837938 CA376540288	9	L>F		No	ClinGen gnomAD
rs1209288010 CA376540283	10	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5504450 rs755800221	10	L>P		No	ClinGen ExAC TOPMed gnomAD
CA207457378 rs72661127	12	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5504447 rs72661127	12	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs72661126 CA5504448	12	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376540255 rs1286850203	15	V>M		No	ClinGen gnomAD
CA376540243 rs1314281821	17	A>T		No	ClinGen gnomAD
CA5504445 rs76063875 COSM1581216	17	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs762672772 CA5504443	22	T>I		No	ClinGen ExAC TOPMed gnomAD
VAR_013294	24	T>A	Chinese [UniProt]	No	UniProt
rs1407328481 CA376540192	25	C>R		No	ClinGen gnomAD
rs72661128 CA207457376	25	C>S		No	ClinGen Ensembl
rs1415613339 CA376540173	27	D>V		No	ClinGen gnomAD
rs1413946607 CA376540170	28	A>T		No	ClinGen TOPMed
rs372226530 CA207457375	28	A>V		No	ClinGen ESP TOPMed
rs1156702796 CA376540160	29	Q>R		No	ClinGen gnomAD
TCGA novel	30	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199957742 CA207457374	32	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5504440 rs761026187	32	C>R		No	ClinGen ExAC gnomAD
rs1184308972 CA376540132	33	P>L		No	ClinGen gnomAD
rs775403277 CA5504439	34	A>S		No	ClinGen ExAC gnomAD
rs1245655310 CA376540127	34	A>V		No	ClinGen gnomAD
CA5504438 rs772241095	35	V>M		No	ClinGen ExAC gnomAD
rs759555588 CA5504437	36	I>M		No	ClinGen ExAC TOPMed gnomAD
rs774957752 CA5504436	38	C>Y		No	ClinGen ExAC gnomAD
CA5504434 rs146004726	39	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376540100 rs146004726	39	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148483303 CA5504432	40	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1438807395 CA376540093	40	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5504431 rs551889676	41	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs534766467 CA207457370	44	N>S		No	ClinGen 1000Genomes
CA5504427 rs754474544	46	F>L		No	ClinGen ExAC gnomAD
rs959547616 CA207457369	51	G>R		No	ClinGen TOPMed
CA5504424 rs148078249	52	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	54	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376540000 rs1200785088	55	T>I		No	ClinGen TOPMed
rs752913198 CA5504422	57	G>R		No	ClinGen ExAC gnomAD
CA5504421 rs774585786	61	E>*		No	ClinGen ExAC TOPMed gnomAD
CA5504420 rs774585786 COSM232765	61	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA207457368 rs867703204	62	P>L		No	ClinGen TOPMed
rs1589872076 CA376539953	63	G>R		No	ClinGen Ensembl
CA5504402 rs374041970	63	G>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	64	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	64	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5504399 rs201305883	65	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5504400 rs201305883	65	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	66	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	68	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210046973 CA376539898	70	Q>*		No	ClinGen TOPMed
TCGA novel	70	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA207457296 rs773731975	71	G>A		No	ClinGen ExAC TOPMed gnomAD
rs925810142 CA207457297	71	G>R		No	ClinGen TOPMed gnomAD
rs925810142 CA376539891	71	G>S		No	ClinGen TOPMed gnomAD
rs773731975 CA5504398	71	G>V		No	ClinGen ExAC TOPMed gnomAD
rs370571813 CA5504396	72	P>A		No	ClinGen ESP ExAC gnomAD
rs762180558 CA5504395	72	P>L		No	ClinGen ExAC gnomAD
CA376539884 rs1429904377	73	P>A		No	ClinGen gnomAD
rs747467008	73	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs776919128 CA5504392	74	G>*		No	ClinGen ExAC gnomAD
rs1163872969 CA376539867	75	K>N		No	ClinGen TOPMed
rs768298037 CA376539866	76	L>M		No	ClinGen ExAC gnomAD
CA376539865 rs1423577299	76	L>S		No	ClinGen gnomAD
rs768298037 CA5504391	76	L>V		No	ClinGen ExAC gnomAD
CA376539860 rs1415008241	77	G>R		No	ClinGen gnomAD
rs774962182 CA207457294	78	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774962182 CA5504389	78	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5504387 rs745411895	79	P>L		No	ClinGen ExAC gnomAD
rs771524640 CA5504388	79	P>S		No	ClinGen ExAC gnomAD
CA376539843 rs1484098696	80	G>E		No	ClinGen gnomAD
CA376539839 rs1263879100	81	N>D		No	ClinGen gnomAD
TCGA novel	82	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244356396 CA376539830	82	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749092603 CA5504384	84	P>S		No	ClinGen ExAC gnomAD
rs777495382 CA5504382	85	S>C		No	ClinGen ExAC gnomAD
rs1307417331 CA376539807	86	G>E		No	ClinGen gnomAD
CA376539801 rs1398071537	87	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751877822 CA5504380	89	G>R		No	ClinGen ExAC gnomAD
rs1350772334 CA376539787	90	P>S		No	ClinGen gnomAD
rs865796533 CA207457291	94	K>Q		No	ClinGen Ensembl
rs368461120 CA207457290	95	G>A		No	ClinGen ESP TOPMed gnomAD
CA5504379 rs766727655	96	D>E		No	ClinGen ExAC gnomAD
rs1411830147 CA376539747	96	D>N		No	ClinGen gnomAD
rs1449337298 CA376539731	98	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1420901630 CA376539734	98	G>R		No	ClinGen gnomAD
TCGA novel	100	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	100	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs55902142	101	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA376539708 rs143562102	101	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1384336857 CA376539694	102	D>G		No	ClinGen TOPMed gnomAD
rs765762469 CA5504376	102	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1020868107 CA207457137	104	D>G		No	ClinGen TOPMed
rs1020868107 CA376539680	104	D>V		No	ClinGen TOPMed
rs137974936 CA207457136	105	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137974936 CA5504347	105	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202135976 CA207457135	106	S>I		No	ClinGen 1000Genomes
rs1466598015 CA376539666	106	S>R		No	ClinGen gnomAD
TCGA novel	110	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166904742 CA376539633	112	R>G		No	ClinGen TOPMed gnomAD
rs1032113091 CA207457134	112	R>I		No	ClinGen TOPMed gnomAD
CA376539629 rs1248941272	112	R>S		No	ClinGen gnomAD
rs1448561201 CA376539614	114	A>V		No	ClinGen gnomAD
rs181047707 CA5504344	119	M>T		No	ClinGen 1000Genomes ExAC
rs140526147 CA5504342	120	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1348196 rs769868112 CA5504343	120	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM918877 rs188107846 CA5504341	121	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5504340 rs200416222	121	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200416222 CA376539571	121	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376539569 rs1271318863	122	I>V		No	ClinGen TOPMed
CA5504337 rs779222681	125	W>G		No	ClinGen ExAC TOPMed gnomAD
CA376539546 rs779222681	125	W>R		No	ClinGen ExAC TOPMed gnomAD
CA207457038 rs1025305086	126	L>F		No	ClinGen Ensembl
CA376539503 rs1475452944	129	S>F		No	ClinGen TOPMed gnomAD
CA376539494 rs749354310	131	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5504317 rs749354310	131	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5504316 rs201337696	133	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5504315 rs200040065	134	V>I		No	ClinGen 1000Genomes ExAC
CA376539460 rs35805975	136	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA207457037 rs1016829364	139	F>C		No	ClinGen Ensembl
CA5504312 rs755256959	141	T>I		No	ClinGen ExAC TOPMed gnomAD
CA376539427 rs755256959	141	T>N		No	ClinGen ExAC TOPMed gnomAD
rs751956734 CA5504311	142	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA376539375 rs1234990008	148	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs1254058022 COSM3709925 CA376539370	149	E>A	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA207457034 rs8191995	151	V>G		No	ClinGen Ensembl
rs749923192 CA5504308	151	V>M		No	ClinGen ExAC
CA207457033 rs923026549	152	K>N		No	ClinGen TOPMed gnomAD
CA5504307 rs764889836	153	A>S		No	ClinGen ExAC gnomAD
rs764889836 CA376539348	153	A>T		No	ClinGen ExAC gnomAD
CA5504306 rs761434679	153	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5504305 rs776674540	154	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1290442390 CA376539331	155	C>W		No	ClinGen gnomAD
CA376539329 rs1469282947	156	V>I		No	ClinGen TOPMed
rs1196009869 CA376539323	157	K>E		No	ClinGen TOPMed
CA376539320 rs1251711278	157	K>R		No	ClinGen TOPMed
CA376539306 rs1326879572	159	Q>K		No	ClinGen gnomAD
TCGA novel	159	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461753004 CA376539298	160	A>S		No	ClinGen gnomAD
CA207457031 rs773268692	160	A>V		No	ClinGen Ensembl
TCGA novel	164	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144193243 CA5504300	170	E>G		No	ClinGen ESP ExAC gnomAD
rs1441045000 CA376539228	171	N>S		No	ClinGen TOPMed
CA5504299 rs773253821	173	A>D		No	ClinGen ExAC gnomAD
rs773253821 CA207457029	173	A>V		No	ClinGen ExAC gnomAD
rs267602523 CA207457026	177	L>F		No	ClinGen Ensembl
TCGA novel	177	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755567866 CA5504295	182	A>G		No	ClinGen ExAC gnomAD
rs781484489 CA5504296	182	A>P		No	ClinGen ExAC TOPMed gnomAD
rs139637221 CA5504294	183	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA376539140 rs1266627349	185	G>S		No	ClinGen TOPMed gnomAD
CA376539132 rs1318031019 COSM1581213	186	I>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1318031019 CA376539133	186	I>V		No	ClinGen gnomAD
CA376539124 COSM403623 rs1341715246	187	T>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs758101969 CA5504292	188	D>A		No	ClinGen ExAC gnomAD
CA376539099 rs1257704240	190	K>N		No	ClinGen TOPMed
rs1213074662 CA376539103	190	K>T		No	ClinGen TOPMed
CA5504290 rs368165740	192	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs756763361 CA5504289	194	Q>*		No	ClinGen ExAC
rs753414577 CA5504288	195	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760730624 CA5504286	202	R>S		No	ClinGen ExAC TOPMed gnomAD
rs375051927 CA207457024	202	R>T		No	ClinGen ESP TOPMed gnomAD
rs1429840709 CA376538999	206	T>R		No	ClinGen gnomAD
CA5504284 rs775112414	207	N>K		No	ClinGen ExAC gnomAD
CA5504283 rs767391194	208	W>G		No	ClinGen ExAC TOPMed gnomAD
rs1423894412 CA376538980	209	N>D		No	ClinGen gnomAD
rs370867162 CA207457023	209	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74754826 CA5504281	210	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1245872723 CA376538962 COSM1719468	212	E>K	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
CA376538950 rs1188319564	213	P>H		No	ClinGen gnomAD
CA376538948 rs12260094	214	N>H		No	ClinGen TOPMed
rs761822692 CA5504279	214	N>S		No	ClinGen ExAC TOPMed gnomAD
rs12260094 VAR_050119 CA207457022	214	N>Y		No	ClinGen UniProt TOPMed dbSNP
CA5504278 rs368692351	215	N>D		No	ClinGen ESP ExAC gnomAD
rs1404749251 CA376538939	215	N>S		No	ClinGen TOPMed
CA5504277 rs769015081	216	A>T		No	ClinGen ExAC gnomAD
rs747599901 CA5504276	218	S>F		No	ClinGen ExAC gnomAD
rs1236701333 CA376538913	219	D>E		No	ClinGen gnomAD
rs772528379 CA5504274	220	E>K		No	ClinGen ExAC gnomAD
rs746243862 CA5504273	221	D>A		No	ClinGen ExAC TOPMed gnomAD
CA376538884 rs757031277	224	L>M		No	ClinGen ExAC TOPMed gnomAD
CA376538845 rs1235210305	230	Q>*		No	ClinGen TOPMed
rs868752483 CA207457021	231	W>*		No	ClinGen Ensembl
TCGA novel	231	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777379872 CA5504269	231	W>R		No	ClinGen ExAC gnomAD
rs1312939456 CA376538811	234	V>D		No	ClinGen gnomAD
rs748028913 CA207457020 COSM1214650	234	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1356236767 CA376538809	235	P>T		No	ClinGen TOPMed
CA5504266 rs767473969	236	C>F		No	ClinGen ExAC TOPMed gnomAD
CA5504267 rs767473969 COSM465736	236	C>Y	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA376538787 rs1422137172	238	T>I		No	ClinGen gnomAD
CA5504265 rs755866544	238	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376538784 rs1328706935	239	S>A		No	ClinGen TOPMed gnomAD
CA5504264 rs751367424	239	S>C		No	ClinGen ExAC gnomAD
rs1328706935 CA376538785	239	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	240	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376538768 rs776551094	242	A>S		No	ClinGen ExAC gnomAD
CA5504261 COSM1321308 rs776551094	242	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5504259 rs185230071	243	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs998457048 CA207457016	244	C>F		No	ClinGen gnomAD
CA207457017 rs370749963	244	C>R		No	ClinGen Ensembl
CA5504257 rs376149426	246	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs956133535 CA207457015	247	P>A		No	ClinGen Ensembl

No associated diseases with P11226

4 regional properties for P11226

Type	Name	Position	InterPro Accession
domain	C-type lectin-like	127 - 246	IPR001304
repeat	Collagen triple helix repeat	42 - 99	IPR008160
conserved_site	C-type lectin, conserved site	222 - 244	IPR018378
domain	Collectin, C-type lectin-like domain	136 - 246	IPR033990

Functions

		Description
EC Number
Subcellular Localization	Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
collagen trimer	A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures.
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
serine-type endopeptidase complex	A protein complex which is capable of serine-type endopeptidase activity.

4 GO annotations of molecular function

Name	Definition
calcium-dependent protein binding	Binding to a protein or protein complex in the presence of calcium.
identical protein binding	Binding to an identical protein or proteins.
mannose binding	Binding to mannose, a monosaccharide hexose, stereoisomeric with glucose, that occurs naturally only in polymerized forms called mannans.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

14 GO annotations of biological process

Name	Definition
acute-phase response	An acute inflammatory response that involves non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals.
antiviral innate immune response	A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.
cell surface pattern recognition receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a cell surface pattern recognition receptor (PRR). PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.
complement activation, classical pathway	Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes.
complement activation, lectin pathway	Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
defense response to Gram-positive bacterium	Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
killing by host of symbiont cells	Any process mediated by an organism that results in the death of cells in the symbiont organism. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.
negative regulation of viral process	Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process in which a virus is a participant.
opsonization	The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody.
positive regulation of opsonization	Any process that activates or increases the frequency, rate or extent of opsonization.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
response to oxidative stress	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P25031	Reg3b	Regenerating islet-derived protein 3-beta	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSLFPSLPLL	LLSMVAASYS	ETVTCEDAQK	TCPAVIACSS	PGINGFPGKD	GRDGTKGEKG
70	80	90	100	110	120
EPGQGLRGLQ	GPPGKLGPPG	NPGPSGSPGP	KGQKGDPGKS	PDGDSSLAAS	ERKALQTEMA
130	140	150	160	170	180
RIKKWLTFSL	GKQVGNKFFL	TNGEIMTFEK	VKALCVKFQA	SVATPRNAAE	NGAIQNLIKE
190	200	210	220	230	240
EAFLGITDEK	TEGQFVDLTG	NRLTYTNWNE	GEPNNAGSDE	DCVLLLKNGQ	WNDVPCSTSH

LAVCEFPI