SFTPA2B surfactant protein A2B [Homo sapiens (human)] - Gene

Summary

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Official Symbol: SFTPA2Bprovided by HGNC
Official Full Name: surfactant protein A2Bprovided by HGNC
Primary source: HGNC:HGNC:23441
Gene type: protein coding
RefSeq status: WITHDRAWN
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SP-2A; SP-A1; SP-A2; SPAII; SFTPA2; AC068139.3
Summary: DISCONTINUED: This record has been withdrawn by the HUGO Gene Nomenclature Committee (HGNC), and it has been determined that the sequence is redundant with SFTPA2 (GeneID:729238) in the GRCh37.1 reference assembly.
Annotation information: Note: There are four SFTPA genes on chromosome 10. The SFTPA1/SFTPA2 pair are centromeric to a SFTPA1B/SFTPA2B pair. In June, 2007, the names of locations were altered to match the locations published in PubMed 15164054 . [14 Jun 2007]
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Genomic context

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See SFTPA2B in Genome Data Viewer

Location:: 10q22.3

Exon count:: 6

Sequence:: Chromosome: 10; NC_000010.10 (81315622..81320163, complement)

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The 19Ala allele of SP-A1 gene and the 223Gln allele of SP-A2 gene are risk factors for recurrent urinary tract infection.
Title: Polymorphisms in the surfactant protein a gene are associated with the susceptibility to recurrent urinary tract infection in chinese women.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Surfactant protein A2 polymorphisms and disease severity in a respiratory syncytial virus-infected population.
The results indicate that human SP-A1 and SP-A2 variants exhibit differential effects on characteristics of phospholipid monolayers containing SP-B. This may differentially impact surface film activity.
Title: Differential effects of human SP-A1 and SP-A2 variants on phospholipid monolayers containing surfactant protein B.
In humans, SP-A2 protein is most abundant in lung, but it has also been identified in submucosal glands of the conducting airways.
Title: A new tool to investigate differences between human SP-A1 and SP-A2.
characterizaion of an SP-A1 gene-specific antibody and its use to identify gene-specific SP-A content in bronchoalveolar lavage fluid as a function of age and lung health.
Title: Characterization of a human surfactant protein A1 (SP-A1) gene-specific antibody; SP-A1 content variation among individuals of varying age and pulmonary health.
intronic polymorphism of SP-A2 (C1382G) showed significant association with pulmonary tuberculosis
Title: Association of polymorphisms in the collagen region of human SP-A1 and SP-A2 genes with pulmonary tuberculosis in Indian population.
Distinct alleles, genotypes and genotype combinations of SP-A2 and MBL may contribute to differential susceptibility of the host to CCPA or ABPA
Title: Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis.
A two-marker haplotype of SP-A and SP-D associates with protection from respiratory distress syndrome in premature infants; also, three- and four-marker haplotypes containing one or both markers associate with protection against RDS.
Title: Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

General protein information

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Names: surfactant protein A2B; SP-2A beta; SP-A1 beta; surfactant pulmonary associated protein A2; surfactant, pulmonary-associated protein A2B

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Build 37.1 (NOTE: not current)

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Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

NC_000010.10 Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Range

81315622..81320163 complement

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GenBank, FASTA, Sequence Viewer (Graphics)