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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
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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

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