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

Gene ID: 161145, updated on 7-Apr-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 response to bacterium. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum (RPKM 3.7), small intestine (RPKM 3.4) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
14q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67470269..67533850, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61677388..61740966, complement)
105.20220307 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
  • 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. 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
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (8) 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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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_2023_10

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

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