MANF mesencephalic astrocyte derived neurotrophic factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MANFprovided by HGNC
Official Full Name: mesencephalic astrocyte derived neurotrophic factorprovided by HGNC
Primary source: HGNC:HGNC:15461
See related: Ensembl:ENSG00000145050 MIM:601916; AllianceGenome:HGNC:15461
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: ARP; DDDS; ARMET
Summary: The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014]
Expression: Ubiquitous expression in thyroid (RPKM 71.3), appendix (RPKM 44.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (51385291..51389397)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (51415711..51419814)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (51422722..51426828)

Chromosome 3 - NC_000003.12 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?

Cerebrospinal fluid mesencephalic astrocyte-derived neurotrophic factor: A moderating effect on sleep time and cognitive function.
Title: Cerebrospinal fluid mesencephalic astrocyte-derived neurotrophic factor: A moderating effect on sleep time and cognitive function.
Mesencephalic astrocyte-derived neurotrophic factor inhibits cervical cancer progression via regulating macrophage phenotype.
Title: Mesencephalic astrocyte-derived neurotrophic factor inhibits cervical cancer progression via regulating macrophage phenotype.
MANF Promotes Unexplained Recurrent Miscarriages by Interacting with NPM1 and Downregulating Trophoblast Cell Migration and Invasion.
Title: MANF Promotes Unexplained Recurrent Miscarriages by Interacting with NPM1 and Downregulating Trophoblast Cell Migration and Invasion.
MANF protein expression is upregulated in immune cells in the ischemic human brain and systemic recombinant MANF delivery in rat ischemic stroke model demonstrates anti-inflammatory effects.
Title: MANF protein expression is upregulated in immune cells in the ischemic human brain and systemic recombinant MANF delivery in rat ischemic stroke model demonstrates anti-inflammatory effects.
Deletion of mesencephalic astrocyte-derived neurotrophic factor delays and damages the development of white pulp in spleen.
Title: Deletion of mesencephalic astrocyte-derived neurotrophic factor delays and damages the development of white pulp in spleen.
Serum levels of interleukin-33 and mesencephalic astrocyte derived neurotrophic factors in patients with major depressive disorder: a cross-sectional comparative design.
Title: Serum levels of interleukin-33 and mesencephalic astrocyte derived neurotrophic factors in patients with major depressive disorder: a cross-sectional comparative design.
MANF inhibits Sjogren's syndrome salivary gland epithelial cell apoptosis and antigen expression of Ro52/SSA through endoplasmic reticulum stress/autophagy pathway.
Title: MANF inhibits Sjögren's syndrome salivary gland epithelial cell apoptosis and antigen expression of Ro52/SSA through endoplasmic reticulum stress/autophagy pathway.
Prognostic potential of serum mesencephalic astrocyte-derived neurotrophic factor in acute intracerebral hemorrhage: a prospective observational study.
Title: Prognostic potential of serum mesencephalic astrocyte-derived neurotrophic factor in acute intracerebral hemorrhage: a prospective observational study.
A prospective observational study on utility of serum mesencephalic astrocyte-derived neurotrophic factor as a promising prognostic biomarker of severe traumatic brain injury in humans.
Title: A prospective observational study on utility of serum mesencephalic astrocyte-derived neurotrophic factor as a promising prognostic biomarker of severe traumatic brain injury in humans.
Mesencephalic astrocyte-derived neurotrophic factor (MANF) prevents the neuroinflammation induced dopaminergic neurodegeneration.
Title: Mesencephalic astrocyte-derived neurotrophic factor (MANF) prevents the neuroinflammation induced dopaminergic neurodegeneration.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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

Associated conditions

Description	Tests
Diabetes, deafness, developmental delay, and short stature syndrome MedGen: C5882732 OMIM: 620651 GeneReviews: Not available	not available

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

NoName (e-PCR)
- UniSTS:490262

RH1498 (e-PCR)
- UniSTS:33307

D17914 (e-PCR)
- UniSTS:124739

D3S4001 (e-PCR)
- UniSTS:72281

RH12752 (e-PCR)
- UniSTS:15480

SGC32878 (e-PCR)
- UniSTS:38026

D3S3306E (e-PCR)
- UniSTS:153740

D3S1679 (e-PCR)
- UniSTS:154299

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfatide binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dopaminergic neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed
located_in sarcoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mesencephalic astrocyte-derived neurotrophic factor

Names: arginine-rich, mutated in early stage tumors

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.

Genomic

NG_012652.3 RefSeqGene

Range

5020..9126

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006010.6 → NP_006001.5 mesencephalic astrocyte-derived neurotrophic factor precursor

Status: REVIEWED

Source sequence(s)

BC007282, M83751

Consensus CDS

CCDS46836.4

UniProtKB/Swiss-Prot

P55145, Q14CX4, Q86U67, Q96IS4

UniProtKB/TrEMBL

A8K878

Related

ENSP00000432799.3, ENST00000528157.7

Conserved Domains (1) summary

pfam10208
Location:29 → 173

Armet; Degradation arginine-rich protein for mis-folding