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

COLEC12 - collectin subfamily member 12 Gene

Homo sapiens

Also known as CLP1; NSR2; SRCL; SCARA4

Gene ID: 81035 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_130386.3 NP_569057.2 collectin-12

COLEC12 Protein Structure

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)

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  • 742 a.a.
Protein Preferred Names Protein Names

collectin-12

collectin placenta protein 1

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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