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    STARD7 StAR related lipid transfer domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 56910, updated on 27-Nov-2024

    Summary

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    Official Symbol
    STARD7provided by HGNC
    Official Full Name
    StAR related lipid transfer domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:18063
    See related
    Ensembl:ENSG00000084090 MIM:616712; AllianceGenome:HGNC:18063
    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
    FAME; GTT1; ADCME; FAME2; BAFME2; FCMTE2
    Summary
    Predicted to enable lipid transfer activity. Predicted to be involved in ubiquinone biosynthetic process. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Located in mitochondrion. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 46.9), brain (RPKM 44.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STARD7 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96184859..96208827, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96691466..96715435, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96850597..96874565, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96798301-96798801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96800355-96800854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16190 Neighboring gene astacin like metalloendopeptidase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96810561-96811062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96813301-96814190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96818462-96819055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16199 Neighboring gene dual specificity phosphatase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16200 Neighboring gene Sharpr-MPRA regulatory region 4518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96824357-96824894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96874259-96874849 Neighboring gene STARD7 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 112 Neighboring gene Sharpr-MPRA regulatory region 4718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16210 Neighboring gene VISTA enhancer hs1919 Neighboring gene transmembrane protein 127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11761

    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. Suppression of StarD7 promotes endoplasmic reticulum stress and induces ROS production. Flores-Martín J, et al. Free Radic Biol Med, 2016 Oct. PMID 27554972
    2. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Guerrini R, et al. Brain, 2001 Dec. PMID 11701600
    3. GTT1/StarD7, a novel phosphatidylcholine transfer protein-like highly expressed in gestational trophoblastic tumour: cloning and characterization. Durand S, et al. Placenta, 2004 Jan. PMID 15013637
    4. StarD7 behaves as a fusogenic protein in model and cell membrane bilayers. Angeletti S, et al. Biochim Biophys Acta, 2012 Mar. PMID 22063720
    5. Identification of the N-terminal transmembrane domain of StarD7 and its importance for mitochondrial outer membrane localization and phosphatidylcholine transfer. Horibata Y, et al. Sci Rep, 2017 Aug 18. PMID 28821867, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of the lipid transport protein StarD7 in mitochondrial dynamics.
      Title: Role of the lipid transport protein StarD7 in mitochondrial dynamics.
    2. The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts.
      Title: The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts.
    3. Familial Adult Myoclonic Epilepsy type 2 is caused by an expansion of an ATTTC pentamer within the first intron of STARD7.
      Title: Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
    4. An ATTTC expansion in the first intron of STARD7 segregated with Familial Adult Myoclonic Epilepsy (FAME2, OMIM: 607876)in 158 typically affected individuals. Expression of STARD7 mRNA and protein abundance was not altered in fibroblast cell lines derived from individuals with FAME2 ATTTC repeat expansions.
      Title: Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
    5. The data point at StarD7 as a candidate effector protein by which ceramides may exert part of their mitochondria-mediated cytotoxic effects.
      Title: A search for ceramide binding proteins using bifunctional lipid analogs yields CERT-related protein StarD7.
    6. this study demonstrated that StarD7, a non-vesicular carrier of PC, is anchored onto the OMM via its N-terminal TM domain.
      Title: Identification of the N-terminal transmembrane domain of StarD7 and its importance for mitochondrial outer membrane localization and phosphatidylcholine transfer.
    7. PARL preserves mitochondrial membrane homeostasis via STARD7 processing and is emerging as a critical regulator of protein localization between mitochondria and the cytosol
      Title: PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.
    8. The results indicate that StarD7 contributes to the modulation of cellular redox homeostasis.
      Title: Suppression of StarD7 promotes endoplasmic reticulum stress and induces ROS production.
    9. MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be risk or protect factors in prognosis of ADC; HTR2B, DPP4, and TGFBRAP1 genes may be risk factors in prognosis of SQC.
      Title: Variations of chromosome 2 gene expressions among patients with lung cancer or non-cancer.
    10. StarD7 modulates ABCG2 multidrug transporter level, cell migration, proliferation, and biochemical and morphological differentiation marker expression in a human trophoblast cell model.
      Title: StarD7 knockdown modulates ABCG2 expression, cell migration, proliferation, and differentiation of human choriocarcinoma JEG-3 cells.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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

    Associated conditions

    Description Tests
    Epilepsy, familial adult myoclonic, 2
    MedGen: C1842852 OMIM: 607876 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid transfer activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquinone biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    stAR-related lipid transfer protein 7, mitochondrial
    Names
    START domain containing 7
    START domain-containing protein 7
    StAR-related lipid transfer (START) domain containing 7
    benign adult familial myoclonic epilepsy 2
    cortical myoclonus and epilepsy, autosomal dominant
    familial adult myoclonic epilepsy 2
    familial cortical myoclonic tremor with epilepsy 2
    gestational trophoblastic tumor protein 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_001385622.1 → NP_001372551.1  stAR-related lipid transfer protein 7, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012307
      UniProtKB/TrEMBL
      B3KNN8
      Conserved Domains (1) summary
      cd08911
      Location:16 → 224
      START_STARD7-like; Lipid-binding START domain of mammalian STARD7 and related proteins

    2. NM_020151.4 → NP_064536.2  stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_064536.2

      Status: VALIDATED

      Source sequence(s)
      AC012307
      Consensus CDS
      CCDS2017.2
      UniProtKB/Swiss-Prot
      D3DXG9, Q53T44, Q6GU43, Q969M6, Q9NQZ5
      Related
      ENSP00000338030.5, ENST00000337288.10
      Conserved Domains (1) summary
      cd08911
      Location:117 → 325
      START_STARD7-like; Lipid-binding START domain of mammalian STARD7 and related proteins

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      96184859..96208827 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      96691466..96715435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139267.1: Suppressed sequence

      Description
      NM_139267.1: This RefSeq was permanently suppressed because it is based on sequence from a neuroblastoma cell line.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQZ5.2 GenPept UniProtKB/Swiss-Prot:Q9NQZ5

    Gene LinkOut

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