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    SPRYD7 SPRY domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 57213, updated on 7-Apr-2024

    Summary

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    Official Symbol
    SPRYD7provided by HGNC
    Official Full Name
    SPRY domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:14297
    See related
    Ensembl:ENSG00000123178 MIM:607866; AllianceGenome:HGNC:14297
    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
    CLLD6; C13orf1
    Expression
    Ubiquitous expression in lung (RPKM 5.0), brain (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPRYD7 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (49912702..49936340, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (49133330..49156970, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50486838..50510476, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene CTAGE family member 10, pseudogene Neighboring gene RNY4 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7756 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:50546741-50546933 Neighboring gene Sharpr-MPRA regulatory region 13323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5351 Neighboring gene deleted in lymphocytic leukemia 2 Neighboring gene microRNA 3613 Neighboring gene tripartite motif containing 13 Neighboring gene potassium channel regulator

    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. Down-regulation of candidate tumor suppressor genes within chromosome band 13q14.3 is independent of the DNA methylation pattern in B-cell chronic lymphocytic leukemia. Mertens D, et al. Blood, 2002 Jun 1. PMID 12010815
    2. [Transcription map of the 13q14 region, frequently deleted in B-cell chronic lymphocytic leukemia patients]. Tiazhelova TV, et al. Genetika, 2001 Nov. PMID 11771308
    3. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. Ng MCY, et al. PLoS Genet, 2017 Apr. PMID 28430825, Free PMC Article
    4. Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. Mabuchi H, et al. Cancer Res, 2001 Apr 1. PMID 11306461
    5. Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. Zouboulis CC, et al. J Eur Acad Dermatol Venereol, 2020 Jul. PMID 32031713

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional Proteomics Characterization of the Role of SPRYD7 in Colorectal Cancer Progression and Metastasis.
      Title: Functional Proteomics Characterization of the Role of SPRYD7 in Colorectal Cancer Progression and Metastasis.
    2. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2) for WHRadjBMI and eight previously established loci at P < 5x10-8: seven for BMI, and one for WHRadjBMI in African ancestry individuals. An additional novel locus (SPRYD7/DLEU2) was identified for WHRadjBMI when combined with European GWAS.
      Title: Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SPRY domain-containing protein 7
    Names
    CLL deletion region gene 6 protein
    chronic lymphocytic leukemia deletion region gene 6 protein
    epididymis secretory sperm binding protein

    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_001127482.3 → NP_001120954.1  SPRY domain-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001120954.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) omits an in-frame coding exon resulting in a shorter protein isoform (2) compared to isoform 1.
      Source sequence(s)
      AF334405, AK290576, BM684781
      Consensus CDS
      CCDS45046.1
      UniProtKB/TrEMBL
      B2RE68
      Related
      ENSP00000367437.2, ENST00000378195.6
      Conserved Domains (1) summary
      cd12880
      Location:8 → 157
      SPRYD7; SPRY domain-containing protein 7

    2. NM_020456.4 → NP_065189.1  SPRY domain-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_065189.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the predicted full length protein isoform (1).
      Source sequence(s)
      AF055016, AF334405, BC022519, BM684781, DN992366
      Consensus CDS
      CCDS9422.1
      UniProtKB/Swiss-Prot
      A8K3G1, O60648, Q5W111, Q8TBG8, Q96T69
      UniProtKB/TrEMBL
      A0A024RDT6, B2RE68
      Related
      ENSP00000354774.3, ENST00000361840.8
      Conserved Domains (1) summary
      cd12880
      Location:35 → 196
      SPRYD7; SPRY domain-containing protein 7

    RNA

    1. NR_023351.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) omits two coding exons resulting in a frameshift and premature stop codon. The transcript is predicted to be a candidate for nonsense-mediated decay.
      Source sequence(s)
      AF334405, BM684781, DA388141, DN992366

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      49912702..49936340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007063693.1 RNA Sequence

    2. XR_007063694.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      49133330..49156970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488777.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W111.2 GenPept UniProtKB/Swiss-Prot:Q5W111

    Gene LinkOut

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

    Chemical Information
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