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

Gene ID: 114904, updated on 12-Aug-2022

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; AllianceGenome:HGNC:14343
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
Summary
Predicted to enable identical protein binding activity. Predicted to be located in extracellular space. Predicted to be integral component of membrane. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in endometrium (RPKM 12.1), placenta (RPKM 6.4) and 16 other tissues See more
Orthologs
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Genomic context

See C1QTNF6 in Genome Data Viewer
Location:
22q12.3
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37180166..37199423, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37640085..37659343, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37576206..37595463, 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_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
    Q6ZRM7, 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
    Q6ZRM7, 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047441114.1XP_047297070.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

  2. XM_024452153.2XP_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
  3. XM_047441112.1XP_047297068.1  complement C1q tumor necrosis factor-related protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q6ZRM7
    UniProtKB/TrEMBL
    A0A024R1J0
  4. XM_047441113.1XP_047297069.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

  5. XM_024452150.2XP_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_011529857.3XP_011528159.1  complement C1q tumor necrosis factor-related protein 6 isoform X3

    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
  7. XM_047441111.1XP_047297067.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

  8. XM_017028569.2XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    37640085..37659343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)