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ANKRD34C ankyrin repeat domain 34C [ Homo sapiens (human) ]

Gene ID: 390616, updated on 2-Nov-2024

Summary

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Official Symbol
ANKRD34Cprovided by HGNC
Official Full Name
ankyrin repeat domain 34Cprovided by HGNC
Primary source
HGNC:HGNC:33888
See related
Ensembl:ENSG00000235711 AllianceGenome:HGNC:33888
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
Summary
Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See ANKRD34C in Genome Data Viewer
Location:
15q25.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (79282722..79298239)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (77146244..77161753)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79575064..79590581)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ANKRD34C antisense RNA 1 Neighboring gene microRNA 184 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79574999-79575538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:79621073-79622272 Neighboring gene transmembrane p24 trafficking protein 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:79665964-79666609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9932 Neighboring gene NANOG hESC enhancer GRCh37_chr15:79711103-79711636 Neighboring gene membrane integral NOTCH2 associated receptor 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:79756173-79757372 Neighboring gene uncharacterized LOC105370918

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. USP45 and Spindly are part of the same complex implicated in cell migration. Conte C, et al. Sci Rep, 2018 Sep 26. PMID 30258100, Free PMC Article
  2. NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90. Chen W, et al. Cell Death Dis, 2020 Jul 14. PMID 32665550, Free PMC Article
  3. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. Moutaoufik MT, et al. iScience, 2019 Sep 27. PMID 31536960, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33346, FLJ45093

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in pi-body IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 34C

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_001146341.2 → NP_001139813.1  ankyrin repeat domain-containing protein 34C

    See identical proteins and their annotated locations for NP_001139813.1

    Status: VALIDATED

    Source sequence(s)
    AC011797, AK090665, AK127037, AL109678
    Consensus CDS
    CCDS53965.1
    UniProtKB/Swiss-Prot
    H3BNM1, P0C6C1
    Related
    ENSP00000401089.2, ENST00000421388.4
    Conserved Domains (3) summary
    cd00204
    Location:32 → 139
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam13637
    Location:46 → 106
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:43 → 82
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    79282722..79298239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    77146244..77161753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0C6C1.2 GenPept UniProtKB/Swiss-Prot:P0C6C1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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