1. Gene
  2. COLEC12 - collectin subfamily member 12 Gene

COLEC12 - collectin subfamily member 12 Gene

中文名称:收集素亚科成员 12

种属: Homo sapiens

同用名: CLP1; NSR2; SRCL; SCARA4

基因 ID: 81035 | 基因类型: protein coding

关于 COLEC12

Cytogenetic location: 18p11.32 Genomic coordinates (GRCh38): 18:316,737-500,701 (from NCBI)

This gene has 3 transcripts (splice variants), 241 orthologues and 3 paralogues. Broad expression in placenta (RPKM 63.7), lung (RPKM 26.0) and 17 other tissues.

功能概要

该基因编码 C-凝集素家族的成员,即具有胶原蛋白样序列和碳水化合物识别域的蛋白质。这种蛋白质是一种清道夫受体,具有多种与宿主防御相关的功能。它可以与微生物上的碳水化合物抗原结合,促进它们的识别和去除。它还介导血管内皮细胞对氧化修饰的低密度脂蛋白的识别、内化和降解。[RefSeq 提供,2018 年 5 月]

This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on Microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]

COLEC12 基因产物(1)

mRNA Protein Name
NM_130386.3 NP_569057.2 collectin-12
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables low-density lipoprotein particle binding IDA
IDA: 通过直接分析推断
11564734 GOA
enables pattern recognition receptor activity IDA
IDA: 通过直接分析推断
11564734 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22396535 GOA
enables scavenger receptor activity IDA
IDA: 通过直接分析推断
11564734 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in cellular response to exogenous dsRNA IMP
IMP: 通过突变表型推断
25204797 GOA
involved in cellular response to exogenous dsRNA IMP
IMP: 通过突变表型推断
25204797 GOA
involved in defense response to bacterium IDA
IDA: 通过直接分析推断
11564734 GOA
involved in phagocytosis, recognition IDA
IDA: 通过直接分析推断
11564734 GOA
acts upstream of positive effect plasma membrane raft organization IMP
IMP: 通过突变表型推断
25204797 GOA
involved in toll-like receptor 3 signaling pathway IMP
IMP: 通过突变表型推断
25204797 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

COLEC12 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (443 - 497)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (530 - 588)

Lectin_C

Lectin_C: Lectin C-type domain (625 - 732)

  • 0
  • 200
  • 400
  • 600
  • 742 a.a.
蛋白主名 其他名称

collectin-12

collectin placenta protein 1

COLEC12 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
COLEC12 Q5KU26 CRP Homo sapiens P02741
IF
26922829
种属内
COLEC12 Q5KU26 CRP Homo sapiens P02741
Solid Phase Assay
26922829
种属内
COLEC12 Q5KU26 SCARA3 Homo sapiens Q6AZY7
Anti Tag CoIP
33961781
种属内
COLEC12 Q5KU26 PILRA Homo sapiens Q9UKJ1
SPR
22396535
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 1

MRD1

Autosomal Dominant Non-Syndromic Intellectual Disability 1

Mental Retardation, Autosomal Dominant 1

Autosomal Dominant Intellectual Developmental Disorder 1

Ehlers-Danlos Syndrome, Hypermobility Type

Ehlers-Danlos Syndrome, Type 3

Ehlers-Danlos Syndrome, Type Iii

EDSHMB

Eds Iii

Benign Hypermobility Syndrome

Ehlers-Danlos Syndrome Hypermobility Type

Eds3

Type Iii Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Type 3

Es-D3

Intellectual Developmental Disorder, Autosomal Dominant 2

MRD2

Autosomal Dominant Non-Syndromic Intellectual Disability 2

Autosomal Dominant Intellectual Developmental Disorder 2

Mental Retardation, Autosomal Dominant 2

3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis With Lid Anomalies

Malpuech Syndrome

Mingarelli Syndrome

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis

Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2

DEE2

Eiee2

Issx2

Developmental And Epileptic Encephalopathy, 2

Infantile Spasm Syndrome, X-Linked 2

Early Infantile Epileptic Encephalopathy 2

X-Linked Infantile Spasm Syndrome 2

Atypical Rett Syndrome Cdkl5-Related

Atypical Rett Syndrome Hanefeld Variant

Infantile Spasm Syndrome X-Linked 2

Rett Syndrome Early-Onset Seizure Variant

Rett Syndrome Variant With Infantile Spasms

Encephalopathy, Epileptic, Early Infantile, Type 2

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus COLEC12 MGD MGI:2152907
Rattus norvegicus COLEC12 RGD RGD:735039
Canis familiaris COLEC12 VGNC VGNC:39490
Bos taurus COLEC12 VGNC VGNC:27579
Macaca mulatta COLEC12 VGNC VGNC:71181
Felis catus COLEC12 VGNC VGNC:80433
Others COLEC12 NCBI