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TRABD2B TraB domain containing 2B [ Homo sapiens (human) ]

Gene ID: 388630, updated on 11-Jun-2021

Summary

Official Symbol
TRABD2Bprovided by HGNC
Official Full Name
TraB domain containing 2Bprovided by HGNC
Primary source
HGNC:HGNC:44200
See related
Ensembl:ENSG00000269113 MIM:614913
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
TIKI2
Expression
Broad expression in kidney (RPKM 3.6), gall bladder (RPKM 0.8) and 16 other tissues See more
Orthologs
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Genomic context

See TRABD2B in Genome Data Viewer
Location:
1p33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (47760528..47997385, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (48226200..48463057, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit e1 pseudogene 4 Neighboring gene long intergenic non-protein coding RNA 1738 Neighboring gene long intergenic non-protein coding RNA 2794 Neighboring gene cytochrome P450 family 46 subfamily A member 4, pseudogene Neighboring gene Skint1 like (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

Bibliography

Phenotypes

Associated conditions

Description Tests
A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • FLJ00388

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Wnt-protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables Wnt-protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables Wnt-protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in integral component of organelle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of organelle membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
metalloprotease TIKI2
Names
TRAB domain-containing protein 2B
UPF0632 protein A
heart, kidney and adipose-enriched transmembrane protein homolog

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_001194986.2NP_001181915.1  metalloprotease TIKI2 precursor

    See identical proteins and their annotated locations for NP_001181915.1

    Status: VALIDATED

    Source sequence(s)
    AC099679, AL691459
    Consensus CDS
    CCDS58000.1
    UniProtKB/Swiss-Prot
    A6NFA1
    Related
    ENSP00000476820.1, ENST00000606738.3
    Conserved Domains (1) summary
    pfam01963
    Location:41349
    TraB; TraB family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    47760528..47997385 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446933.1XP_024302701.1  metalloprotease TIKI2 isoform X2

    Conserved Domains (2) summary
    pfam01963
    Location:41335
    TraB; TraB family
    cl26464
    Location:359486
    Atrophin-1; Atrophin-1 family
  2. XM_024446935.1XP_024302703.1  metalloprotease TIKI2 isoform X4

    Conserved Domains (2) summary
    pfam01963
    Location:41300
    TraB; TraB family
    cl26464
    Location:324451
    Atrophin-1; Atrophin-1 family
  3. XM_017001262.2XP_016856751.1  metalloprotease TIKI2 isoform X8

  4. XM_017001261.2XP_016856750.1  metalloprotease TIKI2 isoform X7

  5. XM_017001260.2XP_016856749.1  metalloprotease TIKI2 isoform X5

  6. XM_006710640.4XP_006710703.1  metalloprotease TIKI2 isoform X1

    Conserved Domains (1) summary
    pfam01963
    Location:41384
    TraB; TraB family
  7. XM_017001263.2XP_016856752.1  metalloprotease TIKI2 isoform X9

  8. XM_011541443.3XP_011539745.1  metalloprotease TIKI2 isoform X3

    Conserved Domains (1) summary
    pfam01963
    Location:41384
    TraB; TraB family
  9. XM_011541445.3XP_011539747.1  metalloprotease TIKI2 isoform X10

    Conserved Domains (1) summary
    pfam01963
    Location:41263
    TraB; TraB family
  10. XM_011541444.2XP_011539746.1  metalloprotease TIKI2 isoform X6

    Conserved Domains (1) summary
    pfam01963
    Location:41384
    TraB; TraB family

RNA

  1. XR_946654.3 RNA Sequence

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