CCDC73 coiled-coil domain containing 73 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC73provided by HGNC
Official Full Name: coiled-coil domain containing 73provided by HGNC
Primary source: HGNC:HGNC:23261
See related: Ensembl:ENSG00000186714 MIM:612328; AllianceGenome:HGNC:23261
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: NY-SAR-79
Expression: Ubiquitous expression in testis (RPKM 4.3), ovary (RPKM 3.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p13

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (32602721..32794662, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (32624267..32816208, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.

Submit: New GeneRIF Correction

Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31799 (e-PCR)
- UniSTS:99841

D11S3395 (e-PCR)
- UniSTS:152637

D11S4680 (e-PCR)
- UniSTS:73919

D11S2162 (e-PCR)
- UniSTS:150211

Homology

Homologs of the CCDC73 gene: The CCDC73 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 292 organisms have orthologs with human gene CCDC73
Orthologs

General protein information

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Preferred Names: coiled-coil domain-containing protein 73

Names: sarcoma antigen NY-SAR-79

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)

NM_001008391.4 → NP_001008392.2 coiled-coil domain-containing protein 73

See identical proteins and their annotated locations for NP_001008392.2

Status: VALIDATED

Source sequence(s)

AL035400, AL049714, AL078477, AL096793

Consensus CDS

CCDS41630.1

UniProtKB/Swiss-Prot

Q6ZRK6

Related

ENSP00000335325.5, ENST00000335185.10

Conserved Domains (2) summary

pfam15818
Location:27 → 1070

CCDC73; Coiled-coil domain-containing protein 73 family

cl12013
Location:47 → 220

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature