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CCDC34 coiled-coil domain containing 34 [ Homo sapiens (human) ]

Gene ID: 91057, updated on 11-Jun-2021

Summary

Official Symbol
CCDC34provided by HGNC
Official Full Name
coiled-coil domain containing 34provided by HGNC
Primary source
HGNC:HGNC:25079
See related
Ensembl:ENSG00000109881 MIM:612324
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
L15; RAMA3; NY-REN-41
Expression
Broad expression in testis (RPKM 12.6), colon (RPKM 2.4) and 21 other tissues See more
Orthologs
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Genomic context

See CCDC34 in Genome Data Viewer
Location:
11p14.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (27338512..27363215, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (27360059..27384762, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BBOX1 antisense RNA 1 Neighboring gene 11p14.2 proximal LINE-mediated recombination region Neighboring gene uncharacterized LOC105376600 Neighboring gene uncharacterized LOC105376601 Neighboring gene leucine rich repeat containing G protein-coupled receptor 4 Neighboring gene Sharpr-MPRA regulatory region 4633 Neighboring gene LGR4 antisense RNA 1

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

Associated conditions

Description Tests
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
coiled-coil domain-containing protein 34
Names
NY-REN-41 antigen
renal carcinoma antigen NY-REN-41

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_030771.2NP_110398.1  coiled-coil domain-containing protein 34 isoform 1

    See identical proteins and their annotated locations for NP_110398.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC090597
    Consensus CDS
    CCDS31448.1
    UniProtKB/Swiss-Prot
    Q96HJ3
    Related
    ENSP00000330240.5, ENST00000328697.11
    Conserved Domains (1) summary
    pfam13904
    Location:61321
    DUF4207; Domain of unknown function (DUF4207)
  2. NM_080654.3NP_542385.1  coiled-coil domain-containing protein 34 isoform 2

    See identical proteins and their annotated locations for NP_542385.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several 3' coding exons, compared to variant 1, resulting in the shorter isoform (2).
    Source sequence(s)
    AC090597, AL555720, BC008496
    Consensus CDS
    CCDS7863.1
    UniProtKB/Swiss-Prot
    Q96HJ3
    Related
    ENSP00000321563.6, ENST00000317945.6
    Conserved Domains (1) summary
    cl25548
    Location:60202
    DUF4670; Domain of unknown function (DUF4670)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    27338512..27363215 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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