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    C1QTNF7 C1q and TNF related 7 [ Homo sapiens (human) ]

    Gene ID: 114905, updated on 3-Apr-2024

    Summary

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    Official Symbol
    C1QTNF7provided by HGNC
    Official Full Name
    C1q and TNF related 7provided by HGNC
    Primary source
    HGNC:HGNC:14342
    See related
    Ensembl:ENSG00000163145 AllianceGenome:HGNC:14342
    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
    CTRP7; ZACRP7
    Summary
    Predicted to enable identical protein binding activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in endometrium (RPKM 7.0), gall bladder (RPKM 5.4) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1QTNF7 in Genome Data Viewer
    Location:
    4p15.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (15339786..15446167)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (15321456..15428083)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (15341612..15447791)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene C1QTNF7 antisense RNA 1 Neighboring gene uncharacterized LOC124900673 Neighboring gene RN7SK pseudogene 170 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:15151436-15152635 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15159790-15160509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15160510-15161228 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:15183990-15185189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21337 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:15257102-15257650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15280553-15281190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21339 Neighboring gene uncharacterized LOC107986185 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15480526-15481176 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:15503443-15503998 Neighboring gene uncharacterized LOC124900672 Neighboring gene coiled-coil and C2 domain containing 2A

    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. Implications of C1q/TNF-related protein superfamily in patients with coronary artery disease. Zhang Y, et al. Sci Rep, 2020 Jan 21. PMID 31965030, Free PMC Article
    2. Genome-wide association study of conduct disorder symptomatology. Dick DM, et al. Mol Psychiatry, 2011 Aug. PMID 20585324, Free PMC Article
    3. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. Cerhan JR, et al. Br J Haematol, 2009 Jun. PMID 19344414, Free PMC Article
    4. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
    5. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Implications of C1q/TNF-related protein superfamily in patients with coronary artery disease.
      Title: Implications of C1q/TNF-related protein superfamily in patients with coronary artery disease.
    2. found four markers that meet the criteria for genome-wide significance (P<5x10-8) with the CD symptom count, two of which are located in the gene C1QTNF7 (C1q and tumor necrosis factor-related protein 7).
      Title: Genome-wide association study of conduct disorder symptomatology.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of conduct disorder symptomatology.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.
    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 (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association study of conduct disorder symptomatology.
    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    complement C1q tumor necrosis factor-related protein 7
    Names
    C1q and tumor necrosis factor related protein 7
    complement-c1q tumor necrosis factor-related protein 7

    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_001135170.2 → NP_001128642.1  complement C1q tumor necrosis factor-related protein 7 isoform a precursor

      See identical proteins and their annotated locations for NP_001128642.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC007016, BC022187, BE856929, BX647781
      Consensus CDS
      CCDS47025.1
      UniProtKB/TrEMBL
      A0A3B0IT49
      Related
      ENSP00000295297.4, ENST00000295297.4
      Conserved Domains (2) summary
      pfam01391
      Location:78 → 144
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:156 → 280
      C1q; C1q domain

    2. NM_001135171.2 → NP_001128643.1  complement C1q tumor necrosis factor-related protein 7 isoform b precursor

      See identical proteins and their annotated locations for NP_001128643.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream translation initiation codon, compared to variant 1, resulting in an isoform (b) with a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC007016, AC099550, BE856929, DB069980
      Consensus CDS
      CCDS3414.1
      UniProtKB/Swiss-Prot
      B2RBT3, J3KPW3, Q9BXJ2
      UniProtKB/TrEMBL
      A0A3B0IT49
      Related
      ENSP00000410722.1, ENST00000429690.5
      Conserved Domains (2) summary
      pfam00386
      Location:149 → 273
      C1q; C1q domain
      pfam01391
      Location:59 → 108
      Collagen; Collagen triple helix repeat (20 copies)

    3. NM_031911.5 → NP_114117.1  complement C1q tumor necrosis factor-related protein 7 isoform b precursor

      See identical proteins and their annotated locations for NP_114117.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream translation initiation codon, compared to variant 1, resulting in an isoform (b) with a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC007016, AF329839, BE856929, DB290077
      Consensus CDS
      CCDS3414.1
      UniProtKB/Swiss-Prot
      B2RBT3, J3KPW3, Q9BXJ2
      UniProtKB/TrEMBL
      A0A3B0IT49
      Related
      ENSP00000388914.2, ENST00000444304.3
      Conserved Domains (2) summary
      pfam00386
      Location:149 → 273
      C1q; C1q domain
      pfam01391
      Location:59 → 108
      Collagen; Collagen triple helix repeat (20 copies)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      15339786..15446167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513772.2 → XP_011512074.1  complement C1q tumor necrosis factor-related protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011512074.1

      UniProtKB/TrEMBL
      A0A3B0IT49
      Conserved Domains (2) summary
      pfam01391
      Location:78 → 144
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:156 → 280
      C1q; C1q domain

    2. XM_047449566.1 → XP_047305522.1  complement C1q tumor necrosis factor-related protein 7 isoform X2

      UniProtKB/Swiss-Prot
      B2RBT3, J3KPW3, Q9BXJ2

    3. XM_011513773.2 → XP_011512075.1  complement C1q tumor necrosis factor-related protein 7 isoform X2

      See identical proteins and their annotated locations for XP_011512075.1

      UniProtKB/Swiss-Prot
      B2RBT3, J3KPW3, Q9BXJ2
      UniProtKB/TrEMBL
      A0A3B0IT49
      Conserved Domains (2) summary
      pfam00386
      Location:149 → 273
      C1q; C1q domain
      pfam01391
      Location:59 → 108
      Collagen; Collagen triple helix repeat (20 copies)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      15321456..15428083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348848.1 → XP_054204823.1  complement C1q tumor necrosis factor-related protein 7 isoform X1

    2. XM_054348849.1 → XP_054204824.1  complement C1q tumor necrosis factor-related protein 7 isoform X2

      UniProtKB/Swiss-Prot
      B2RBT3, J3KPW3, Q9BXJ2

    3. XM_054348850.1 → XP_054204825.1  complement C1q tumor necrosis factor-related protein 7 isoform X2

      UniProtKB/Swiss-Prot
      B2RBT3, J3KPW3, Q9BXJ2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXJ2.1 GenPept UniProtKB/Swiss-Prot:Q9BXJ2

    Gene LinkOut

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

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