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    TMCC2 transmembrane and coiled-coil domain family 2 [ Homo sapiens (human) ]

    Gene ID: 9911, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMCC2provided by HGNC
    Official Full Name
    transmembrane and coiled-coil domain family 2provided by HGNC
    Primary source
    HGNC:HGNC:24239
    See related
    Ensembl:ENSG00000133069 MIM:619429; AllianceGenome:HGNC:24239
    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
    HUCEP11
    Summary
    Involved in amyloid precursor protein metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in bone marrow (RPKM 19.2), brain (RPKM 7.1) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMCC2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205227946..205273343)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204492258..204537660)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205197074..205242471)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene signal peptidase complex subunit 1-like Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205104550 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:205106956-205107504 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205110917 Neighboring gene dual serine/threonine and tyrosine protein kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205143827-205144328 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:205160687-205161231 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205163798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1734 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205183288 Neighboring gene ribosomal protein L17 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1735 Neighboring gene TMCC2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:205220889-205221086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205226461-205226970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205232393-205233090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205237153-205237653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205238617-205239137 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205240913 Neighboring gene Sharpr-MPRA regulatory region 11318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243188-205243769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243770-205244352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205244961-205245620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2378 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:205263045-205264244 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:205269741-205270592 and GRCh37_chr1:205270593-205271445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205271446-205272297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205273151-205274001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1736 Neighboring gene NUAK family kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205312405-205312965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205319640-205320547 Neighboring gene kelch domain containing 8A Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 10

    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. The impact of a novel apolipoprotein E and amyloid-β protein precursor-interacting protein on the production of amyloid-β. Hopkins PC, et al. J Alzheimers Dis, 2011. PMID 21593558
    2. Transmembrane and coiled-coil domain family 1 is a novel protein of the endoplasmic reticulum. Zhang C, et al. PLoS One, 2014. PMID 24454821, Free PMC Article
    3. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Shameer K, et al. Hum Genet, 2014 Jan. PMID 24026423, Free PMC Article
    4. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Soranzo N, et al. Nat Genet, 2009 Nov. PMID 19820697, Free PMC Article
    5. Proteomic analysis reveals Hrs ubiquitin-interacting motif-mediated ubiquitin signaling in multiple cellular processes. Pridgeon JW, et al. FEBS J, 2009 Jan. PMID 19019082, Free PMC Article

    See all (25) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    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

    • FLJ37594, FLJ38497, KIAA0481

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amyloid precursor protein metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amyloid precursor protein metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane and coiled-coil domains protein 2
    Names
    cerebral protein 11

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001242925.2 → NP_001229854.1  transmembrane and coiled-coil domains protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001229854.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AB007950, AC093422, AK293734, CA313737, DC309246
      Consensus CDS
      CCDS55676.1
      UniProtKB/Swiss-Prot
      O75069
      Related
      ENSP00000437943.1, ENST00000545499.5
      Conserved Domains (1) summary
      pfam10267
      Location:208 → 617
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    2. NM_001297611.2 → NP_001284540.1  transmembrane and coiled-coil domains protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001284540.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AB007950, AC093422, AK314398, BQ222504, CA313737
      Consensus CDS
      CCDS76257.1
      UniProtKB/TrEMBL
      Q8IW47
      Related
      ENSP00000490308.1, ENST00000637895.1
      Conserved Domains (1) summary
      pfam10267
      Location:64 → 470
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    3. NM_001297613.2 → NP_001284542.1  transmembrane and coiled-coil domains protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001284542.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AB007950, AC093422, AK095816, CA313737
      Consensus CDS
      CCDS73010.1
      UniProtKB/TrEMBL
      Q8IW47
      Related
      ENSP00000329436.6, ENST00000329800.7
      Conserved Domains (1) summary
      pfam10267
      Location:49 → 455
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    4. NM_001331034.1 → NP_001317963.1  transmembrane and coiled-coil domains protein 2 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC093422, BC041019, DA291330
      Consensus CDS
      CCDS81418.1
      UniProtKB/TrEMBL
      A0A0C4DFR1, Q8IW47
      Related
      ENSP00000331842.7, ENST00000330675.12

    5. NM_001375651.1 → NP_001362580.1  transmembrane and coiled-coil domains protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093422
      Consensus CDS
      CCDS55676.1
      Related
      ENST00000495538.5
      Conserved Domains (1) summary
      pfam10267
      Location:208 → 617
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    6. NM_001375652.1 → NP_001362581.1  transmembrane and coiled-coil domains protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093422
      Consensus CDS
      CCDS55676.1
      Conserved Domains (1) summary
      pfam10267
      Location:208 → 617
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    7. NM_014858.4 → NP_055673.2  transmembrane and coiled-coil domains protein 2 isoform 1

      See identical proteins and their annotated locations for NP_055673.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB007950, BM674135, T51366
      Consensus CDS
      CCDS30984.1
      UniProtKB/Swiss-Prot
      A2RRH3, B2RAX5, B3KTM7, B7Z1P7, O75069, Q6ZN09, Q7Z6C6
      Related
      ENSP00000350718.3, ENST00000358024.8
      Conserved Domains (1) summary
      pfam10267
      Location:289 → 695
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      205227946..205273343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436073.1 → XP_047292029.1  transmembrane and coiled-coil domains protein 2 isoform X1

    2. XM_005245686.4 → XP_005245743.1  transmembrane and coiled-coil domains protein 2 isoform X2

      Conserved Domains (1) summary
      pfam10267
      Location:289 → 606
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      204492258..204537660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339936.1 → XP_054195911.1  transmembrane and coiled-coil domains protein 2 isoform X1

    2. XM_054339937.1 → XP_054195912.1  transmembrane and coiled-coil domains protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75069.3 GenPept UniProtKB/Swiss-Prot:O75069

    Gene LinkOut

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

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