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C1QTNF6 C1q and TNF related 6 [ Homo sapiens (human) ]

Gene ID: 114904, updated on 15-Jun-2019

Summary

Official Symbol
C1QTNF6provided by HGNC
Official Full Name
C1q and TNF related 6provided by HGNC
Primary source
HGNC:HGNC:14343
See related
Ensembl:ENSG00000133466 MIM:614910
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
CTFP6; CTRP6; ZACRP6
Expression
Broad expression in endometrium (RPKM 12.1), placenta (RPKM 6.4) and 16 other tissues See more
Orthologs

Genomic context

See C1QTNF6 in Genome Data Viewer
Location:
22q12.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (37180166..37199401, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37576206..37594341, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene interleukin 2 receptor subunit beta Neighboring gene IL2RB promoter Neighboring gene IL2RB LTR promoter Neighboring gene somatostatin receptor 3 Neighboring gene ribosomal protein L39 pseudogene 41 Neighboring gene Rac family small GTPase 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
NHGRI GWA Catalog
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
NHGRI GWA Catalog
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein heterotrimerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
complement C1q tumor necrosis factor-related protein 6
Names
C1q and tumor necrosis factor related protein 6
complement-c1q tumor necrosis factor-related protein 6

NCBI Reference Sequences (RefSeq)

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_001365878.1NP_001352807.1  complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    Z82188
    Conserved Domains (2) summary
    pfam01391
    Location:78119
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:126254
    C1q; C1q domain
  2. NM_031910.4NP_114116.3  complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor

    See identical proteins and their annotated locations for NP_114116.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    BC020551, BM678522, BM722009, BQ674594, BU147265, BU535692, BU542015, BU859813, CB961508
    Consensus CDS
    CCDS13943.1
    UniProtKB/Swiss-Prot
    Q9BXI9
    UniProtKB/TrEMBL
    A0A024R1J0
    Related
    ENSP00000338812.2, ENST00000337843.7
    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain
  3. NM_182486.2NP_872292.1  complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor

    See identical proteins and their annotated locations for NP_872292.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AF329842, BC020551, BM678522
    Consensus CDS
    CCDS13943.1
    UniProtKB/Swiss-Prot
    Q9BXI9
    UniProtKB/TrEMBL
    A0A024R1J0
    Related
    ENSP00000380299.2, ENST00000397110.6
    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    37180166..37199423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452152.1XP_024307920.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain
  2. XM_024452151.1XP_024307919.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain
  3. XM_024452153.1XP_024307921.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain
  4. XM_024452154.1XP_024307922.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain
  5. XM_024452150.1XP_024307918.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain
  6. XM_024452155.1XP_024307923.1  complement C1q tumor necrosis factor-related protein 6 isoform X2

    Conserved Domains (2) summary
    pfam01391
    Location:78119
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:126254
    C1q; C1q domain
  7. XM_011529857.2XP_011528159.1  complement C1q tumor necrosis factor-related protein 6 isoform X2

    See identical proteins and their annotated locations for XP_011528159.1

    UniProtKB/Swiss-Prot
    Q9BXI9
    Conserved Domains (2) summary
    pfam01391
    Location:78119
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:126254
    C1q; C1q domain
  8. XM_017028569.1XP_016884058.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:97138
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:145273
    C1q; C1q domain
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