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

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; AllianceGenome:HGNC:44200
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
Summary: Enables Wnt-protein binding activity and metalloendopeptidase activity. Involved in several processes, including negative regulation of Wnt signaling pathway; positive regulation of protein oxidation; and positive regulation of protein-containing complex assembly. Located in organelle membrane and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in kidney (RPKM 3.6), gall bladder (RPKM 0.8) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (47760528..47997385, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (47639427..47876248, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (48226200..48463057, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results of the present study indicate that TIKI2 is upregulated in renal cell carcinoma tissues and plays an oncogenic role in renal cell carcinoma
Title: TIKI2 is upregulated and plays an oncogenic role in renal cell carcinoma.
examination of the structural prediction and identification of the active site residues of human TIKI2
Title: Characterization of Tiki, a New Family of Wnt-specific Metalloproteases.
provided evidence that reduced expression of TIKI family protein in osteosarcoma may participate in the progression of osteosarcoma and restoring its expression was able to impair the growth of osteosarcoma
Title: TIKI2 suppresses growth of osteosarcoma by targeting Wnt/β-catenin pathway.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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
A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

AL033845 (e-PCR)
- UniSTS:93721

SHGC-147566 (e-PCR)
- UniSTS:172834

D1S2839 (e-PCR)
- UniSTS:473382

SHGC-74794 (e-PCR)
- UniSTS:9790

SHGC-74778 (e-PCR)
- UniSTS:80199

D1S2134 (e-PCR), detects polymorphism
- UniSTS:1383

SHGC-147957 (e-PCR)
- UniSTS:172905

AL009451 (e-PCR)
- UniSTS:50817

AL034124 (e-PCR)
- UniSTS:93900

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
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
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in organelle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in organelle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

NM_001194986.2 → NP_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, I6U4Y0

Related

ENSP00000476820.1, ENST00000606738.3

Conserved Domains (1) summary

pfam01963
Location:41 → 349

TraB; TraB family

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

47760528..47997385 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446935.2 → XP_024302703.1 metalloprotease TIKI2 isoform X4

Conserved Domains (2) summary

pfam01963
Location:41 → 300

TraB; TraB family

cl26464
Location:324 → 451

Atrophin-1; Atrophin-1 family
XM_024446933.2 → XP_024302701.1 metalloprotease TIKI2 isoform X2

Conserved Domains (2) summary

pfam01963
Location:41 → 335

TraB; TraB family

cl26464
Location:359 → 486

Atrophin-1; Atrophin-1 family
XM_017001262.3 → XP_016856751.1 metalloprotease TIKI2 isoform X8
XM_017001261.3 → XP_016856750.1 metalloprotease TIKI2 isoform X7
XM_017001260.3 → XP_016856749.1 metalloprotease TIKI2 isoform X5
XM_006710640.5 → XP_006710703.1 metalloprotease TIKI2 isoform X1

Conserved Domains (1) summary

pfam01963
Location:41 → 384

TraB; TraB family
XM_047420060.1 → XP_047276016.1 metalloprotease TIKI2 isoform X11
XM_017001263.3 → XP_016856752.1 metalloprotease TIKI2 isoform X9
XM_011541443.4 → XP_011539745.1 metalloprotease TIKI2 isoform X3

Conserved Domains (1) summary

pfam01963
Location:41 → 384

TraB; TraB family
XM_011541445.4 → XP_011539747.1 metalloprotease TIKI2 isoform X10

Conserved Domains (1) summary

pfam01963
Location:41 → 263

TraB; TraB family
XM_011541444.3 → XP_011539746.1 metalloprotease TIKI2 isoform X6

Conserved Domains (1) summary

pfam01963
Location:41 → 384

TraB; TraB family