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    LHFPL7 LHFPL tetraspan subfamily member 7 [ Homo sapiens (human) ]

    Gene ID: 255349, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LHFPL7provided by HGNC
    Official Full Name
    LHFPL tetraspan subfamily member 7provided by HGNC
    Primary source
    HGNC:HGNC:33725
    See related
    Ensembl:ENSG00000206069 AllianceGenome:HGNC:33725
    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
    TMEM211; bA9F11.1
    Summary
    Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See LHFPL7 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24935098..24946694, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25396656..25408280, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25331065..25342661, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene piwi like RNA-mediated gene silencing 3 Neighboring gene DNA topoisomerase I pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13556 Neighboring gene small G protein signaling modulator 1 Neighboring gene MPRA-validated peak4474 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25287609-25288110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25293734-25294234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25294235-25294735 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:25307870-25308029 Neighboring gene Sharpr-MPRA regulatory region 9438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25354355-25354854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25365545-25366128 Neighboring gene KIAA1671 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25390751-25391348 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25398411-25398910 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:25421915-25423114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25457216-25458130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25462486-25463045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25465590-25466140 Neighboring gene Sharpr-MPRA regulatory region 10625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25494863-25495382 Neighboring gene KIAA1671 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25506614-25507476 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25507477-25508338 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63138 Neighboring gene Sharpr-MPRA regulatory region 2564 Neighboring gene Sharpr-MPRA regulatory region 1539 Neighboring gene STMN3 pseudogene 1

    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. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
    2. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    3. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    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)

    General gene information

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    Homology

    Clone Names

    • MGC163519, MGC163521

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    LHFPL tetraspan subfamily member 7 protein
    Names
    transmembrane protein 211

    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_001001663.4 → NP_001001663.1  LHFPL tetraspan subfamily member 7 protein isoform 1

      See identical proteins and their annotated locations for NP_001001663.1

      Status: VALIDATED

      Source sequence(s)
      AL050312, BG222046, BU584904
      Consensus CDS
      CCDS33624.1
      UniProtKB/TrEMBL
      A0A0C4DG04
      Related
      ENSP00000385494.1, ENST00000407886.1
      Conserved Domains (1) summary
      cl21598
      Location:39 → 96
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001388199.1 → NP_001375128.1  LHFPL tetraspan subfamily member 7 protein isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL050312
      Consensus CDS
      CCDS93134.1
      UniProtKB/Swiss-Prot
      Q6ICI0
      Related
      ENSP00000492160.1, ENST00000640159.2
      Conserved Domains (1) summary
      cl21598
      Location:3 → 167
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24935098..24946694 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441305.1 → XP_047297261.1  LHFPL tetraspan subfamily member 7 protein isoform X1

      UniProtKB/Swiss-Prot
      Q6ICI0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25396656..25408280 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325462.1 → XP_054181437.1  LHFPL tetraspan subfamily member 7 protein isoform X1

      UniProtKB/Swiss-Prot
      Q6ICI0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ICI0.2 GenPept UniProtKB/Swiss-Prot:Q6ICI0

    Gene LinkOut

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

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