COL1A2 collagen type I alpha 2 chain [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: COL1A2provided by VGNC
Official Full Name: collagen type I alpha 2 chainprovided by VGNC
Primary source: VGNC:VGNC:39465
See related: Ensembl:ENSCAFG00845017038
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 14

Exon count:: 52

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	14	NC_051818.1 (19699099..19734901)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	14	NC_006596.4 (19443112..19478898)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	14	NC_049235.1 (19843097..19878889)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	14	NC_049274.1 (19850793..19886662)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	14	NC_049755.1 (19585955..19621759)

Chromosome 14 - NC_051818.1 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?

A heterozygous mutation in the splice donor site of exon 18 of the COL1A2 gene (c.936 + 1G>A) in the chow chow with osteogenesis imperfecta.The splice donor mutation was not detected among 91 control dogs representing 21 breeds.
Title: Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta.

Submit: New GeneRIF Correction

General gene information

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Markers

COL1A2mfd (e-PCR), detects polymorphism
- UniSTS:164864

COL1A2 (e-PCR)
- UniSTS:479797

D7S2150E (e-PCR)
- UniSTS:151144

GDB:366514 (e-PCR)
- UniSTS:156812

AA819207 (e-PCR)
- UniSTS:261556

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
part_of collagen type I trimer	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: collagen alpha-2(I) chain

Names: COL1A2 gene exons 8 through 12; alpha-2 type I collagen; type I procollagen pro-alpha 2 chain

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.

mRNA and Protein(s)

NM_001003187.1 → NP_001003187.1 collagen alpha-2(I) chain precursor

See identical proteins and their annotated locations for NP_001003187.1

Status: PROVISIONAL

Source sequence(s)

AF035120

UniProtKB/Swiss-Prot

O46392

Related

ENSCAFP00845023947.1, ENSCAFT00845030530.1

Conserved Domains (2) summary

pfam01391
Location:364 → 423

Collagen; Collagen triple helix repeat (20 copies)

pfam01410
Location:1134 → 1365

COLFI; Fibrillar collagen C-terminal domain