MBL3P mannose-binding lectin family member 3, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBL3Pprovided by HGNC
Official Full Name: mannose-binding lectin family member 3, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:2221
See related: Ensembl:ENSG00000219430 AllianceGenome:HGNC:2221
Gene type: pseudo
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MBL; COLEC2
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Genomic context

Location:: 10q22.3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79582298..79584877, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (80451422..80454039, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (81342054..81344633, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.
Title: Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.
The Role of Mannose-binding Lectin in Infectious Complications of Pediatric Hemato-Oncologic Diseases.
Title: The Role of Mannose-binding Lectin in Infectious Complications of Pediatric Hemato-Oncologic Diseases.
Opsonization of zymosan with rMBL/A & pMBL/A resulted in a 1.9- & 2.7-fold enhancement in its uptake by THP-1 cells in the presence of serum depleted of MBL & C1q. No enhancement was seen when zymosan was opsonized with rMBL/C.
Title: Recombinant form of human wild type mannan-binding lectin (MBL/A) but not its structural variant (MBL/C) promotes phagocytosis of zymosan by activating complement.
Functional mannose binding lectin may indicate a greater likelihood rejection after heart transplantation.
Title: Mannose-binding lectin deficiency offers protection from acute graft rejection after heart transplantation.
significantly elevated in patients with type 1 diabetes and suggest a possible role of MBL in the pathogenesis of renovascular complications in diabetes.
Title: Elevated levels of mannan-binding lectin in patients with type 1 diabetes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.