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

Gene ID: 161145, updated on 24-Nov-2020

Summary

Official Symbol
TMEM229Bprovided by HGNC
Official Full Name
transmembrane protein 229Bprovided by HGNC
Primary source
HGNC:HGNC:20130
See related
Ensembl:ENSG00000198133 MIM:619022
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
Expression
Broad expression in duodenum (RPKM 3.7), small intestine (RPKM 3.4) and 24 other tissues See more
Orthologs

Genomic context

See TMEM229B in Genome Data Viewer
Location:
14q24.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (67470269..67533850, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67913801..67982445, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370542 Neighboring gene microRNA 5694 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H1 Neighboring gene uncharacterized LOC105370543 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H Neighboring gene protein kinase C eta pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
GeneReviews: Not available
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33387

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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_001348541.2NP_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:58179
    ABC_trans_CmpB; Putative ABC-transporter type IV
  2. NM_001348542.2NP_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
    A0A024R699
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV
  3. NM_001348543.2NP_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
    A0A024R699
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV
  4. NM_001348544.2NP_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
    A0A024R699
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV
  5. NM_001348546.2NP_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
    A0A024R699
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV
  6. NM_001348547.2NP_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
    A0A024R699
    Related
    ENSP00000452402.1, ENST00000554278.5
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV
  7. NM_001348548.2NP_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
    A0A024R699
    Related
    ENSP00000452201.1, ENST00000555638.5
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV
  8. NM_001348549.2NP_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
    A0A024R699
    Related
    ENSP00000451774.1, ENST00000557006.5
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV
  9. NM_182526.3NP_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
    A0A024R699
    Related
    ENSP00000350050.2, ENST00000357461.6
    Conserved Domains (1) summary
    cl26964
    Location:14135
    ABC_trans_CmpB; Putative ABC-transporter type IV

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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