ADAP2 ArfGAP with dual PH domains 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAP2provided by HGNC
Official Full Name: ArfGAP with dual PH domains 2provided by HGNC
Primary source: HGNC:HGNC:16487
See related: Ensembl:ENSG00000184060 MIM:608635; AllianceGenome:HGNC:16487
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: CENTA2; cent-b; HSA272195
Summary: The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]
Expression: Broad expression in spleen (RPKM 10.3), placenta (RPKM 9.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30921945..30959322)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (31867653..31905026)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (29248963..29286340)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Elevated Expression of ADAP2 is Associated With Aggressive Behavior of Human Clear-Cell Renal Cell Carcinoma and Poor Patient Survival.
Title: Elevated Expression of ADAP2 is Associated With Aggressive Behavior of Human Clear-Cell Renal Cell Carcinoma and Poor Patient Survival.
ArfGAP domain-containing protein 2 (ADAP2) is identified as a key novel scaffolding protein that integrates different modules of the RIG-I pathway, located at distinct subcellular locations, and mediates cellular antiviral type I interferon production.
Title: ArfGAP Domain-Containing Protein 2 (ADAP2) Integrates Upstream and Downstream Modules of RIG-I Signaling and Facilitates Type I Interferon Production.
Data suggest ADAP2 (an interferon-beta stimulated gene) disrupts pathogenic internalization of some RNA viruses/virions (dengue, vesicular stomatitis) by altering ADP ribosylation factor 6-mediated processes including up-regulation of pinocytosis.
Title: ADAP2 Is an Interferon Stimulated Gene That Restricts RNA Virus Entry.
Centaurin-alpha interacts with beta-tubulin and stabilizes microtubules.
Title: Centaurin-α₂ interacts with β-tubulin and stabilizes microtubules.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
The human gene for centaurin alpha 2 is located on chromosome 17, position 17q11.2, near the neurofibromatosis 1 (NF1) locus and concentrated at the plasma membrane.
Title: Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1,3,4,5-P4-/PtdIns 3,4,5-P3-binding, adapter proteins.

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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
Many sequence variants affecting diversity of adult human height. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH35914 (e-PCR)
- UniSTS:83288

SHGC-35088 (e-PCR)
- UniSTS:19392

SHGC-34232 (e-PCR)
- UniSTS:7140

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol 1,3,4,5 tetrakisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial envelope	ISS Inferred from Sequence or Structural Similarity 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: arf-GAP with dual PH domain-containing protein 2

Names: centaurin beta; centaurin-alpha 2 protein

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_051975.1 RefSeqGene

Range

5210..42587

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346712.2 → NP_001333641.1 arf-GAP with dual PH domain-containing protein 2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC138207

Consensus CDS

CCDS86588.1

UniProtKB/TrEMBL

Q2V6Q1, Q53HQ4

Related

ENSP00000464121.1, ENST00000580525.6
NM_001346714.2 → NP_001333643.1 arf-GAP with dual PH domain-containing protein 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC138207, BC033758

UniProtKB/TrEMBL

Q53HQ4

Conserved Domains (3) summary

cd01251
Location:255 → 361

PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2

cd13252
Location:133 → 241

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

pfam01412
Location:8 → 126

ArfGap; Putative GTPase activating protein for Arf
NM_001346716.2 → NP_001333645.1 arf-GAP with dual PH domain-containing protein 2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC138207

UniProtKB/TrEMBL

Q53HQ4
NM_018404.3 → NP_060874.1 arf-GAP with dual PH domain-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_060874.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC138207, AJ272195, BC033758

Consensus CDS

CCDS11261.1

UniProtKB/Swiss-Prot

Q8N4Q6, Q96SD5, Q9NPF8

UniProtKB/TrEMBL

Q53HQ4

Related

ENSP00000329468.3, ENST00000330889.8

Conserved Domains (4) summary

cd01251
Location:255 → 362

PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2

cd13252
Location:133 → 241

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

pfam00169
Location:258 → 361

PH; PH domain

pfam01412
Location:8 → 126

ArfGap; Putative GTPase activating protein for Arf

RNA

NR_144488.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC138207

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

30921945..30959322

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450834.2 → XP_024306602.1 arf-GAP with dual PH domain-containing protein 2 isoform X3

UniProtKB/TrEMBL

Q53HQ4

Conserved Domains (3) summary

cd13252
Location:139 → 247

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

pfam01412
Location:8 → 132

ArfGap; Putative GTPase activating protein for Arf

cl17171
Location:261 → 353

PH-like; Pleckstrin homology-like domain
XM_024450832.2 → XP_024306600.1 arf-GAP with dual PH domain-containing protein 2 isoform X1

UniProtKB/TrEMBL

Q53HQ4

Conserved Domains (3) summary

cd01251
Location:261 → 367

PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2

cd13252
Location:139 → 247

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

pfam01412
Location:8 → 132

ArfGap; Putative GTPase activating protein for Arf
XM_024450833.2 → XP_024306601.1 arf-GAP with dual PH domain-containing protein 2 isoform X2

UniProtKB/TrEMBL

Q53HQ4

Conserved Domains (3) summary

cd13252
Location:139 → 247

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

pfam01412
Location:8 → 132

ArfGap; Putative GTPase activating protein for Arf

cl17171
Location:254 → 347

PH-like; Pleckstrin homology-like domain
XM_024450835.2 → XP_024306603.1 arf-GAP with dual PH domain-containing protein 2 isoform X4

Conserved Domains (2) summary

cd01251
Location:133 → 240

PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2

cd13252
Location:11 → 119

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

Reference GRCh38.p14 PATCHES

Genomic

NW_025791803.1 Reference GRCh38.p14 PATCHES

Range

1119..38496

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333216.1 → XP_054189191.1 arf-GAP with dual PH domain-containing protein 2 isoform X3

UniProtKB/TrEMBL

Q53HQ4
XM_054333214.1 → XP_054189189.1 arf-GAP with dual PH domain-containing protein 2 isoform X1

UniProtKB/TrEMBL

Q53HQ4
XM_054333215.1 → XP_054189190.1 arf-GAP with dual PH domain-containing protein 2 isoform X2

UniProtKB/TrEMBL

Q53HQ4
XM_054333217.1 → XP_054189192.1 arf-GAP with dual PH domain-containing protein 2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

31867653..31905026

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316649.1 → XP_054172624.1 arf-GAP with dual PH domain-containing protein 2 isoform X3

UniProtKB/TrEMBL

Q53HQ4
XM_054316647.1 → XP_054172622.1 arf-GAP with dual PH domain-containing protein 2 isoform X1

UniProtKB/TrEMBL

Q53HQ4
XM_054316648.1 → XP_054172623.1 arf-GAP with dual PH domain-containing protein 2 isoform X2

UniProtKB/TrEMBL

Q53HQ4
XM_054316650.1 → XP_054172625.1 arf-GAP with dual PH domain-containing protein 2 isoform X4