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OLFML2A olfactomedin like 2A [ Homo sapiens (human) ]

Gene ID: 169611, updated on 2-Nov-2024

Summary

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Official Symbol
OLFML2Aprovided by HGNC
Official Full Name
olfactomedin like 2Aprovided by HGNC
Primary source
HGNC:HGNC:27270
See related
Ensembl:ENSG00000185585 MIM:615899; AllianceGenome:HGNC:27270
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRO34319
Summary
Predicted to enable extracellular matrix binding activity and identical protein binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within extracellular matrix organization. Predicted to be located in extracellular matrix and extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in spleen (RPKM 18.8), endometrium (RPKM 12.2) and 20 other tissues See more
Orthologs
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Genomic context

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See OLFML2A in Genome Data Viewer
Location:
9q33.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (124777133..124814882)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (136975390..137013144)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127539412..127577161)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nuclear receptor subfamily 6 group A member 1 Neighboring gene uncharacterized LOC124900274 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:127507402-127507902 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:127522805-127523360 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:127523361-127523915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:127533372-127533939 Neighboring gene uncharacterized LOC107987126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127561206-127561720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127561721-127562234 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127573487-127573987 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127573988-127574490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127574992-127575493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127596476-127597087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127597088-127597698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127602031-127602634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127602635-127603237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20268 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:127618044-127618212 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:127620824-127621106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127621747-127622248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127622249-127622748 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127623737-127624360 Neighboring gene WD repeat domain 38 Neighboring gene ribosomal protein L35

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Olfactomedin-like 2 A and B (OLFML2A and OLFML2B) expression profile in primates (human and baboon). Pérez-Ibave DC, et al. Biol Res, 2016 Nov 8. PMID 27821182, Free PMC Article
  2. Neuronal proteins are novel components of podocyte major processes and their expression in glomerular crescents supports their role in crescent formation. Sistani L, et al. Kidney Int, 2013 Jan. PMID 22913984
  3. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. Greliche N, et al. BMC Med Genet, 2013 Mar 20. PMID 23509962, Free PMC Article
  4. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
  5. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00237

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
olfactomedin-like protein 2A
Names
photomedin-1

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)

  1. NM_001282715.2 → NP_001269644.1  olfactomedin-like protein 2A isoform 2

    See identical proteins and their annotated locations for NP_001269644.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' structure compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL354928, BC054001
    Consensus CDS
    CCDS65129.1
    UniProtKB/Swiss-Prot
    Q68BL7
    Related
    ENSP00000288815.5, ENST00000288815.5
    Conserved Domains (1) summary
    pfam02191
    Location:185 → 434
    OLF; Olfactomedin-like domain

  2. NM_182487.4 → NP_872293.2  olfactomedin-like protein 2A isoform 1 precursor

    See identical proteins and their annotated locations for NP_872293.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB119055, AL354928, DA727926
    Consensus CDS
    CCDS6857.2
    UniProtKB/Swiss-Prot
    Q5JTM5, Q5JTM6, Q68BL7, Q6UXW1, Q7Z5V3
    Related
    ENSP00000362682.3, ENST00000373580.8
    Conserved Domains (1) summary
    pfam02191
    Location:399 → 648
    OLF; Olfactomedin-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    124777133..124814882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251760.6 → XP_005251817.1  olfactomedin-like protein 2A isoform X2

    Conserved Domains (1) summary
    pfam02191
    Location:316 → 565
    OLF; Olfactomedin-like domain

  2. XM_006716989.3 → XP_006717052.1  olfactomedin-like protein 2A isoform X1

    Conserved Domains (1) summary
    pfam02191
    Location:363 → 612
    OLF; Olfactomedin-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    136975390..137013144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362210.1 → XP_054218185.1  olfactomedin-like protein 2A isoform X2

  2. XM_054362209.1 → XP_054218184.1  olfactomedin-like protein 2A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68BL7.1 GenPept UniProtKB/Swiss-Prot:Q68BL7

Gene LinkOut

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