CCDC54 coiled-coil domain containing 54 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC54provided by HGNC
Official Full Name: coiled-coil domain containing 54provided by HGNC
Primary source: HGNC:HGNC:30703
See related: Ensembl:ENSG00000138483 AllianceGenome:HGNC:30703
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: SP17; NYD-SP17
Orthologs: mouse all
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Genomic context

Location:: 3q13.12

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (107377439..107378635)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (110097142..110098338)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (107096286..107097482)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

data supporting the rationale for further investigations of Sp17 for tumor vaccines in testicular cancer. (review)
Title: Cancer immunotherapy targeting Sp17: when should the laboratory findings be translated to the clinics?

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

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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General protein information

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Preferred Names: coiled-coil domain-containing protein 54

Names: sperm protein 17; testes development-related NYD-SP17; testicular tissue protein Li 33; testis development protein NYD-SP17

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.