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    ANKRD36C ankyrin repeat domain 36C [ Homo sapiens (human) ]

    Gene ID: 400986, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD36Cprovided by HGNC
    Official Full Name
    ankyrin repeat domain 36Cprovided by HGNC
    Primary source
    HGNC:HGNC:32946
    See related
    Ensembl:ENSG00000174501 AllianceGenome:HGNC:32946
    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
    Expression
    Broad expression in testis (RPKM 4.6), bone marrow (RPKM 4.1) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ANKRD36C in Genome Data Viewer
    Location:
    2q11.1
    Exon count:
    89
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95848932..95991824, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96339376..96482270)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96514680..96657572, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glycerol-3-phosphate acyltransferase 2, mitochondrial Neighboring gene glycerol-3-phosphate acyltransferase 2 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96675379-96676210 Neighboring gene fumarylacetoacetate hydrolase domain-containing protein 2B-like Neighboring gene RNA, 7SL, cytoplasmic 210, pseudogene Neighboring gene fumarylacetoacetate hydrolase domain containing 2C, pseudogene

    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
    • 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. Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura. Basu MK, et al. Thromb Haemost, 2021 Apr. PMID 33184803, Free PMC Article
    2. Inhibitors of renal epithelial phosphate transport in tumor-induced osteomalacia and uremia. Kumar R, et al. Proc Assoc Am Physicians, 1995 Oct. PMID 8608414
    3. Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity. Golkowski M, et al. Mol Cell, 2023 Mar 2. PMID 36736316, Free PMC Article
    4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
    5. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.
      Title: Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.
    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

    Homology

    Clone Names

    • FLJ42107

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ion channel inhibitor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 36C
    Names
    protein immuno-reactive with anti-PTH polyclonal antibodies

    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_001310154.3 → NP_001297083.1  ankyrin repeat domain-containing protein 36C isoform 1

      See identical proteins and their annotated locations for NP_001297083.1

      Status: VALIDATED

      Source sequence(s)
      AC013272, AC073995
      UniProtKB/Swiss-Prot
      C9JZ08, Q15694, Q53S06, Q5JPF3, Q658V2
      Conserved Domains (6) summary
      cd00204
      Location:59 → 184
      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 ...
      pfam12796
      Location:69 → 157
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:36 → 85
      Ank_4; Ankyrin repeats (many copies)
      pfam14662
      Location:1620 → 1819
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
      pfam14915
      Location:1740 → 2030
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:66 → 95
      ANK; ANK repeat [structural motif]

    2. NM_001393982.1 → NP_001380911.1  ankyrin repeat domain-containing protein 36C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC013272, AC073995
      Consensus CDS
      CCDS92809.1
      UniProtKB/Swiss-Prot
      C9JZ08, Q15694, Q53S06, Q5JPF3, Q658V2
      UniProtKB/TrEMBL
      A0A8J8YUB5
      Related
      ENSP00000295246.7, ENST00000295246.7
      Conserved Domains (5) summary
      PTZ00121
      Location:946 → 1755
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:1582 → 1944
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1854 → 2119
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:66 → 95
      ANK; ANK repeat [structural motif]
      cl39094
      Location:45 → 249
      Ank_2; Ankyrin repeats (3 copies)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      95848932..95991824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      96339376..96482270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001010914.1: Suppressed sequence

      Description
      NM_001010914.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay candidate and may represent a partial CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JPF3.3 GenPept UniProtKB/Swiss-Prot:Q5JPF3

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials