TMOD2 tropomodulin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMOD2provided by HGNC
Official Full Name: tropomodulin 2provided by HGNC
Primary source: HGNC:HGNC:11872
See related: Ensembl:ENSG00000128872 MIM:602928; AllianceGenome:HGNC:11872
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: NTMOD; N-TMOD
Summary: This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]
Expression: Biased expression in brain (RPKM 47.3), appendix (RPKM 3.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (51751597..51816363)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (49559103..49623854)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (52043794..52108560)

Chromosome 15 - NC_000015.10 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
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?

Hexavalent chromium causes centrosome amplification by inhibiting the binding between TMOD2 and NPM2.
Title: Hexavalent chromium causes centrosome amplification by inhibiting the binding between TMOD2 and NPM2.
levels of TM1, TM2 and TM3 are reduced in human transitional cell carcinoma cells, but significantly upregulated by inhibition of the mitogen-activated protein kinase-signaling pathway
Title: Alterations in tropomyosin isoform expression in human transitional cell carcinoma of the urinary bladder.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-106273 (e-PCR)
- UniSTS:169745

BCD1503 (e-PCR)
- UniSTS:33810

D8S2279 (e-PCR)
- UniSTS:473907

RH120227 (e-PCR)
- UniSTS:132685

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-53022 (e-PCR)
- UniSTS:39597

PMC59888P1 (e-PCR)
- UniSTS:273376

PMC59888P2 (e-PCR)
- UniSTS:273377

PMC59888P3 (e-PCR)
- UniSTS:273378

PMC59888P4 (e-PCR)
- UniSTS:273379

PMC59888P5 (e-PCR)
- UniSTS:273380

RH93728 (e-PCR)
- UniSTS:85476

PMC59888P6 (e-PCR)
- UniSTS:273381

PMC59888P7 (e-PCR)
- UniSTS:273382

PMC59888P8 (e-PCR)
- UniSTS:273383

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tropomyosin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuron-neuron synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in pointed-end actin filament capping	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
is_active_in striated muscle thin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tropomodulin-2

Names: neuronal tropomodulin; tropomodulin 2 (neuronal)

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_001142885.2 → NP_001136357.1 tropomodulin-2 isoform b

See identical proteins and their annotated locations for NP_001136357.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The encoded protein (isoform b) is shorter compared to isoform a.

Source sequence(s)

AC026770, AC090971, AK293823, DA808222

Consensus CDS

CCDS45260.1

UniProtKB/TrEMBL

A8K9L8

Related

ENSP00000404590.2, ENST00000435126.6

Conserved Domains (2) summary

cd00116
Location:197 → 287

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

pfam03250
Location:5 → 146

Tropomodulin; Tropomodulin
NM_014548.4 → NP_055363.1 tropomodulin-2 isoform a

See identical proteins and their annotated locations for NP_055363.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC090971, BC064961, DA808222

Consensus CDS

CCDS10144.1

UniProtKB/Swiss-Prot

B4DEW6, Q9NZR1

UniProtKB/TrEMBL

A8K9L8

Related

ENSP00000249700.4, ENST00000249700.9

Conserved Domains (2) summary

pfam03250
Location:5 → 146

Tropomodulin

cl39015
Location:215 → 323

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...