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    TMEM229B transmembrane protein 229B [ Homo sapiens (human) ]

    Gene ID: 161145, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM229Bprovided by HGNC
    Official Full Name
    transmembrane protein 229Bprovided by HGNC
    Primary source
    HGNC:HGNC:20130
    See related
    Ensembl:ENSG00000198133 MIM:619022; AllianceGenome:HGNC:20130
    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
    C14orf83
    Summary
    Predicted to act upstream of or within macrophage activation and response to bacterium. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in duodenum (RPKM 3.7), small intestine (RPKM 3.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM229B in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67470269..67533850, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61677388..61740966, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67936986..68000567, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene uncharacterized LOC105370542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924223-67924724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924725-67925224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67955013-67955512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958119-67958659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958660-67959199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5856 Neighboring gene microRNA 5694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8581 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:68023408-68024607 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68025967-68026468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68026469-68026968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8583 Neighboring gene protein kinase C eta pseudogene Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H

    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. Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets. Di'Narzo AF, et al. Gastroenterology, 2022 Mar. PMID 34780722, Free PMC Article
    2. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nalls MA, et al. Nat Genet, 2014 Sep. PMID 25064009, Free PMC Article
    3. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. Demirkan A, et al. PLoS Genet, 2012. PMID 22359512, Free PMC Article
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets.
      Title: Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • FLJ33387

    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 macrophage activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 229B

    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_001348541.2 → NP_001335470.1  transmembrane protein 229B isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL132640
      Conserved Domains (1) summary
      cl26964
      Location:58 → 179
      ABC_trans_CmpB; Putative ABC-transporter type IV

    2. NM_001348542.2 → NP_001335471.1  transmembrane protein 229B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    3. NM_001348543.2 → NP_001335472.1  transmembrane protein 229B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Related
      ENSP00000450859.2, ENST00000554480.6
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    4. NM_001348544.2 → NP_001335473.1  transmembrane protein 229B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Related
      ENSP00000452144.2, ENST00000555994.6
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    5. NM_001348546.2 → NP_001335475.1  transmembrane protein 229B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    6. NM_001348547.2 → NP_001335476.1  transmembrane protein 229B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Related
      ENSP00000452402.2, ENST00000554278.6
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    7. NM_001348548.2 → NP_001335477.1  transmembrane protein 229B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Related
      ENSP00000452201.1, ENST00000555638.5
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    8. NM_001348549.2 → NP_001335478.1  transmembrane protein 229B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Related
      ENSP00000451774.1, ENST00000557006.6
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    9. NM_182526.3 → NP_872332.1  transmembrane protein 229B isoform b

      See identical proteins and their annotated locations for NP_872332.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice junction in the coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2-9 all encode the same isoform (b).
      Source sequence(s)
      AL132640
      Consensus CDS
      CCDS9783.1
      UniProtKB/Swiss-Prot
      Q8NBD8
      UniProtKB/TrEMBL
      G3V5K9
      Related
      ENSP00000350050.2, ENST00000357461.7
      Conserved Domains (1) summary
      cl26964
      Location:50 → 135
      ABC_trans_CmpB; Putative ABC-transporter type IV

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      67470269..67533850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431036.1 → XP_047286992.1  transmembrane protein 229B isoform X1

      UniProtKB/Swiss-Prot
      Q8NBD8

    2. XM_047431037.1 → XP_047286993.1  transmembrane protein 229B isoform X1

      UniProtKB/Swiss-Prot
      Q8NBD8

    3. XM_047431038.1 → XP_047286994.1  transmembrane protein 229B isoform X1

      UniProtKB/Swiss-Prot
      Q8NBD8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      61677388..61740966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375494.1 → XP_054231469.1  transmembrane protein 229B isoform X1

      UniProtKB/Swiss-Prot
      Q8NBD8

    2. XM_054375495.1 → XP_054231470.1  transmembrane protein 229B isoform X1

      UniProtKB/Swiss-Prot
      Q8NBD8

    3. XM_054375496.1 → XP_054231471.1  transmembrane protein 229B isoform X1

      UniProtKB/Swiss-Prot
      Q8NBD8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBD8.1 GenPept UniProtKB/Swiss-Prot:Q8NBD8

    Gene LinkOut

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

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