FAM82A2 family with sequence similarity 82, member A2 [Homo sapiens] - Gene

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Summary

Official Symbol: FAM82A2provided by HGNC
Official Full Name: family with sequence similarity 82, member A2provided by HGNC
Primary source: HGNC:25550
Locus tag: hucep-10
See related: Ensembl:ENSG00000137824; HPRD:07687; MIM:611873; Vega:OTTHUMG00000130066
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RMD3; RMD-3; FAM82C; ptpip51; FLJ10579

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Genomic context

Location :: 15q15.1

Sequence :: Chromosome: 15; NC_000015.9 (41028086..41047458, complement)

See FAM82A2 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In glioblastoma PTPIP51 expression increases with the grade of malignancy and PTPIP51 interacts in situ with 14-3-3ss and PTP1B.
Title: PTPIP51, a positive modulator of the MAPK/Erk pathway, is upregulated in glioblastoma and interacts with 14-3-3β and PTP1B in situ.
PTPIP51 is phosphorylated by Lyn and c-Src kinases lacking dephosphorylation by PTP1B in acute myeloid leukemia.
Title: PTPIP51 is phosphorylated by Lyn and c-Src kinases lacking dephosphorylation by PTP1B in acute myeloid leukemia.
PTPIP51 expression was restricted to myeloid precursor cells undergoing differentiation. In blood cells therefore, PTPIP51 expression is restricted to differentiating and mature neutrophil granulocytes.
Title: PTPIP51-a myeloid lineage specific protein interacts with PTP1B in neutrophil granulocytes.
The promoter methylation status of PTPIP51 seems to influence the expression of PTPIP51, which was seen as elevated in the prostate carcinoma.
Title: PTPIP51 mRNA and protein expression in tissue microarrays and promoter methylation of benign prostate hyperplasia and prostate carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
The results clearly point toward a strong association between PTPIP51 expression and differentiation in human muscle cells.
Title: Differentiation-dependent PTPIP51 expression in human skeletal muscle cell culture.
FAM82A2 is expressed in keratinocyte carcinoma and their surrounding stroma.
Title: The novel protein PTPIP51 is expressed in human keratinocyte carcinomas and their surrounding stroma.
PTPIP51 and PTP1B, play a role in differentiation and apoptosis of the cytotrophoblast and syncytiotrophoblast, respectively. Moreover, PTPIP51 may also serve as a cellular signaling partner in angiogenesis and vascular remodeling.
Title: Protein tyrosine phosphatase interacting protein 51 (PTPIP51) mRNA expression and localization and its in vitro interacting partner protein tyrosine phosphatase 1B (PTP1B) in human placenta of the first, second, and third trimester.
PTPIP51 is a mitochondrial protein with apoptosis-inducing function and that the N-terminal TM domain is required for both the correct targeting of the protein to mitochondria and its apoptotic functions.
Title: Protein tyrosine phosphatase interacting protein 51 (PTPIP51) is a novel mitochondria protein with an N-terminal mitochondrial targeting sequence and induces apoptosis.
PTPIP51 might be involved in the regulation of cellular processes associated with differentiation, movement, or cytoskeletal organization
Title: The novel protein PTPIP51 exhibits tissue- and cell-specific expression.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q96TC7	P31946	YWHAB	HPRD	PubMed
Q96TC7	P61981	YWHAG	HPRD	PubMed
BioGRID:120476	BioGRID:212454	Fam82a2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120476	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120476	BioGRID:114651	VAPA	BioGRID	PubMed	Two-hybrid
BioGRID:120476	BioGRID:113361	YWHAB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120476	BioGRID:113364	YWHAG	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:120476	BioGRID:113366	YWHAZ	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
apoptotic process	IEA Inferred from Electronic Annotation more info
cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
microtubule	IEA Inferred from Electronic Annotation more info
mitochondrial membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info
spindle pole	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: regulator of microtubule dynamics protein 3

Names: regulator of microtubule dynamics protein 3; cerebral protein 10; TCPTP-interacting protein 51; microtubule-associated protein; regulator of microtubule dynamics 3; family with sequence similarity 82, member C; protein tyrosine phosphatase-interacting protein 51

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NCBI Reference Sequences (RefSeq)

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_018145.1 → NP_060615.1 regulator of microtubule dynamics protein 3

Status: PROVISIONAL

Source sequence(s)

AK001441

Consensus CDS

CCDS10063.1

UniProtKB/Swiss-Prot

Q96TC7

Related

ENSP00000342493, OTTHUMP00000248625, ENST00000338376, OTTHUMT00000418960

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

41028086..41047458, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

17876217..17895600, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC012476.8 (49234..68606)	None
genomic	AJ242719.1	CAC39480.1
genomic	CH471125.1	EAW92436.1
		EAW92437.1
		EAW92438.1
		EAW92439.1
		EAW92440.1
		EAW92441.1
mRNA	AB000782.1	BAB46923.1
mRNA	AK001441.1	BAA91693.1
mRNA	AK025963.1	BAB15298.1
mRNA	AK090731.1	None
mRNA	AK092058.1	BAG52475.1
mRNA	AK097286.1	BAG53446.1
mRNA	AK123192.1	BAC85554.1
mRNA	AK123282.1	BAG53885.1
mRNA	AY358793.1	AAQ89153.1
mRNA	BC008970.2	AAH08970.2
mRNA	BC063844.1	AAH63844.1
mRNA	BR000691.1	FAA00416.1
other-genetic	HQ447480.1	ADQ31966.1