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

Gene ID: 9911, updated on 5-Mar-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, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 19.2), brain (RPKM 7.1) and 4 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205227946..205273343)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204492258..204537660)
105.20220307 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 (24) 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)

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

  • 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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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_2023_10

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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