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

    Gene ID: 169611, updated on 5-Mar-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 act upstream of or within extracellular matrix organization. Predicted to be located in extracellular matrix and extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    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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    Location:
    9q33.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (124777133..124814882)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (136975390..137013144)
    105.20220307 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
    • 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 (14) 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)

    Genotypes

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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