TIAM2 TIAM Rac1 associated GEF 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIAM2provided by HGNC
Official Full Name: TIAM Rac1 associated GEF 2provided by HGNC
Primary source: HGNC:HGNC:11806
See related: Ensembl:ENSG00000146426 MIM:604709; AllianceGenome:HGNC:11806
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STEF; TIAM-2
Summary: This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 5.7), brain (RPKM 4.1) and 18 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6q25.2-q25.3

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (154995315..155257723)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (156197278..156459744)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (155316449..155578857)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study.
Title: Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study.
TIAM2S-positive microglia enhance inflammation and neurotoxicity through soluble ICAM-1-mediated immune priming.
Title: TIAM2S-positive microglia enhance inflammation and neurotoxicity through soluble ICAM-1-mediated immune priming.
FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma.
Title: FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma.
Elevated TIAM2 expression promotes tumor progression and is associated with unfavorable prognosis in pancreatic cancer.
Title: Elevated TIAM2 expression promotes tumor progression and is associated with unfavorable prognosis in pancreatic cancer.
The authors show that the Rac1 selective guanine nucleotide exchange factor Sif and TIAM1-like Exchange Factor STEF, also known as TIAM2, localises to the nuclear envelope, co-localises with key perinuclear proteins and regulates the activity of perinuclear Rac1.
Title: STEF/TIAM2-mediated Rac1 activity at the nuclear envelope regulates the perinuclear actin cap.
Tiam2/Rac are key components of EphB2 trans-endocytosis and are important for cell repulsion.
Title: Tiam-Rac signaling mediates trans-endocytosis of ephrin receptor EphB2 and is important for cell repulsion.
Results provide evidence that Sp1 positively controls TIAM2S transcription and that Sp1-mediated transcriptional activation is essential for TIAM2S ectopic expression in liver cancer cells.
Title: Sp1-mediated ectopic expression of T-cell lymphoma invasion and metastasis 2 in hepatocellular carcinoma.
Knockdown of TIAM2 could up-regulate the expression of E-cadherin.
Title: TIAM2 enhances non-small cell lung cancer cell invasion and motility.
TIAM2 expression was undetectable in normal human liver but was induced in all HCC cell lines and in 86% (78/91) of HCC biopsies.
Title: Expression of T-cell lymphoma invasion and metastasis 2 (TIAM2) promotes proliferation and invasion of liver cancer.
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 See all GeneRIFs (12)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
Knockdown of T-cell lymphoma invasion and metastasis 2 (TIAM2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH79606 (e-PCR)
- UniSTS:91431

A004I02 (e-PCR)
- UniSTS:15915

fe36g08.x1 (e-PCR)
- UniSTS:196403

D6S1577 (e-PCR), detects polymorphism
- UniSTS:69977

SHGC-156051 (e-PCR)
- UniSTS:184426

D6S345E (e-PCR)
- UniSTS:78967

RH1528 (e-PCR)
- UniSTS:60803

RH92066 (e-PCR)
- UniSTS:91559

SHGC-80974 (e-PCR)
- UniSTS:102600

G31560 (e-PCR)
- UniSTS:26331

SHGC-150796 (e-PCR)
- UniSTS:173553

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in positive regulation of axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in small GTPase-mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: rho guanine nucleotide exchange factor TIAM2

Names: SIF and TIAM1-like exchange factor; T cell lymphoma invasion and metastasis 2; T-lymphoma invasion and metastasis-inducing protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

NM_001010927.3 → NP_001010927.2 rho guanine nucleotide exchange factor TIAM2 isoform b

Status: REVIEWED

Source sequence(s)

AL139101, AL355343, AL596202

Consensus CDS

CCDS34559.1

UniProtKB/TrEMBL

B7Z624

Related

ENSP00000275246.7, ENST00000275246.11

Conserved Domains (2) summary

smart00325
Location:28 → 217

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01255
Location:219 → 391

PH2_Tiam1_2; T-lymphoma invasion and metastasis 1 and 2 Pleckstrin Homology (PH) domain, C-terminal domain
NM_001384546.1 → NP_001371475.1 rho guanine nucleotide exchange factor TIAM2 isoform a

Status: REVIEWED

Source sequence(s)

AL136228, AL139101, AL355343, AL596202

Consensus CDS

CCDS34558.1

UniProtKB/Swiss-Prot

B2RP56, C9JZV2, Q6NXN9, Q6ZUP9, Q8IVF5, Q9UFG6, Q9UKV9, Q9UKW0

UniProtKB/TrEMBL

Q59EY7

Related

ENSP00000437188.2, ENST00000461783.7

Conserved Domains (6) summary

smart00325
Location:1103 → 1292

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd00992
Location:888 → 973

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01230
Location:505 → 631

PH1_Tiam1_2; T-lymphoma invasion and metastasis 1 and 2 Pleckstrin Homology (PH) domain, N-terminal domain

cd01255
Location:1294 → 1466

PH2_Tiam1_2; T-lymphoma invasion and metastasis 1 and 2 Pleckstrin Homology (PH) domain, C-terminal domain

pfam18385
Location:645 → 742

Tiam_CC_Ex; T-lymphoma invasion and metastasis CC-Ex domain

cl28922
Location:811 → 881

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
NM_001384547.1 → NP_001371476.1 rho guanine nucleotide exchange factor TIAM2 isoform a

Status: REVIEWED

Source sequence(s)

AL139101, AL355343, AL596202

Consensus CDS

CCDS34558.1

UniProtKB/Swiss-Prot

B2RP56, C9JZV2, Q6NXN9, Q6ZUP9, Q8IVF5, Q9UFG6, Q9UKV9, Q9UKW0

UniProtKB/TrEMBL

Q59EY7

Related

ENSP00000353528.4, ENST00000360366.8

Conserved Domains (6) summary

smart00325
Location:1103 → 1292

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd00992
Location:888 → 973

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01230
Location:505 → 631

PH1_Tiam1_2; T-lymphoma invasion and metastasis 1 and 2 Pleckstrin Homology (PH) domain, N-terminal domain

cd01255
Location:1294 → 1466

PH2_Tiam1_2; T-lymphoma invasion and metastasis 1 and 2 Pleckstrin Homology (PH) domain, C-terminal domain

pfam18385
Location:645 → 742

Tiam_CC_Ex; T-lymphoma invasion and metastasis CC-Ex domain

cl28922
Location:811 → 881

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
NM_012454.4 → NP_036586.3 rho guanine nucleotide exchange factor TIAM2 isoform a

Status: REVIEWED

Source sequence(s)

AL136228, AL139101, AL355343, AL596202

Consensus CDS

CCDS34558.1

UniProtKB/Swiss-Prot

B2RP56, C9JZV2, Q6NXN9, Q6ZUP9, Q8IVF5, Q9UFG6, Q9UKV9, Q9UKW0

UniProtKB/TrEMBL

Q59EY7

Related

ENSP00000507157.1, ENST00000682666.1

Conserved Domains (6) summary

smart00325
Location:1103 → 1292

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd00992
Location:888 → 973

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01230
Location:505 → 631

PH1_Tiam1_2; T-lymphoma invasion and metastasis 1 and 2 Pleckstrin Homology (PH) domain, N-terminal domain

cd01255
Location:1294 → 1466

PH2_Tiam1_2; T-lymphoma invasion and metastasis 1 and 2 Pleckstrin Homology (PH) domain, C-terminal domain

pfam18385
Location:645 → 742

Tiam_CC_Ex; T-lymphoma invasion and metastasis CC-Ex domain

cl28922
Location:811 → 881

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold