PACSIN2 protein kinase C and casein kinase substrate in neurons 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PACSIN2provided by HGNC
Official Full Name: protein kinase C and casein kinase substrate in neurons 2provided by HGNC
Primary source: HGNC:HGNC:8571
See related: Ensembl:ENSG00000100266 MIM:604960; AllianceGenome:HGNC:8571
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: SDPII
Summary: This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Expression: Ubiquitous expression in adrenal (RPKM 24.2), colon (RPKM 24.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (42869766..43015149, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (43350692..43496154, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (43265772..43411155, complement)

Chromosome 22 - NC_000022.11 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?

Pacsin 2-dependent N-cadherin internalization regulates the migration behaviour of malignant cancer cells.
Title: Pacsin 2-dependent N-cadherin internalization regulates the migration behaviour of malignant cancer cells.
PACSIN2 as a modulator of autophagy and mercaptopurine cytotoxicity: mechanisms in lymphoid and intestinal cells.
Title: PACSIN2 as a modulator of autophagy and mercaptopurine cytotoxicity: mechanisms in lymphoid and intestinal cells.
Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.
Title: Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.
Dynamin 2 and BAR domain protein pacsin 2 cooperatively regulate formation and maturation of podosomes.
Title: Dynamin 2 and BAR domain protein pacsin 2 cooperatively regulate formation and maturation of podosomes.
A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesis.
Title: A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesis.
PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients.
Title: PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients.
PACSIN2 Interacts with Nonstructural Protein 5A and Regulates Hepatitis C Virus Assembly.
Title: PACSIN2 Interacts with Nonstructural Protein 5A and Regulates Hepatitis C Virus Assembly.
Authors found that caveolins (CAV1 and CAV2) and the membrane sculpting F-BAR protein PACSIN2 promote L. monocytogenes protrusion engulfment during spread, and that PACSIN2 specifically localizes to protrusions.
Title: RNAi screen reveals a role for PACSIN2 and caveolins during bacterial cell-to-cell spread.
Pacsin2 recruitment is important for maintenance of cell-cell adhesion by stabilizing the VE-cadherin complex within focal adherens junctions and inhibition of its internalization.
Title: The F-BAR protein pacsin2 inhibits asymmetric VE-cadherin internalization from tensile adherens junctions.
observations indicate that PACSIN2 promotes the cell-to-cell spreading of HIV-1 by connecting Gag to the actin cytoskeleton.
Title: HIV-1 gag recruits PACSIN2 to promote virus spreading.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

AL021660 (e-PCR)
- UniSTS:14090

SHGC-106298 (e-PCR)
- UniSTS:169746

RH118731 (e-PCR)
- UniSTS:138034

BARC0039 (e-PCR)
- UniSTS:255320

G20629 (e-PCR)
- UniSTS:17524

A005Z33 (e-PCR)
- UniSTS:17525

RH80194 (e-PCR)
- UniSTS:85378

STS-T97931 (e-PCR)
- UniSTS:59342

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables cytoskeletal protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in caveola assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in caveolin-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endocytosis	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane tubulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to endosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
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
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein kinase C and casein kinase substrate in neurons protein 2

Names: cytoplasmic phosphoprotein PACSIN2; syndapin-2; syndapin-II; syndapin2

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_001184970.3 → NP_001171899.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform A

See identical proteins and their annotated locations for NP_001171899.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform A. Both variants 1 and 2 encode the same protein (isoform A).

Source sequence(s)

AF128536, BC008037, HY009996

Consensus CDS

CCDS43023.1

UniProtKB/Swiss-Prot

O95921, Q96HV9, Q9H0D3, Q9NPN1, Q9UNF0, Q9Y4V2

UniProtKB/TrEMBL

A0A0U1RR22

Related

ENSP00000263246.3, ENST00000263246.8

Conserved Domains (3) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:429 → 484

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2

pfam16601
Location:338 → 428

NPF; Rabosyn-5 repeating NPF sequence-motif
NM_001184971.1 → NP_001171900.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform B

See identical proteins and their annotated locations for NP_001171900.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform B) lacks 41 internal amino acids, compared to isoform A.

Source sequence(s)

AL136845, BI964045

Consensus CDS

CCDS54536.1

UniProtKB/TrEMBL

A0A0U1RR22, Q6FIA3

Related

ENSP00000385952.1, ENST00000407585.5

Conserved Domains (2) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:388 → 443

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_001349968.1 → NP_001336897.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).

Source sequence(s)

AF128536, AL022476, BC008037, BI964045, DB477051, HY342978

UniProtKB/TrEMBL

A0A0U1RR22

Conserved Domains (2) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:390 → 445

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_001349969.2 → NP_001336898.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform D

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform D) has the same N- and C-termini, but is 2 aa longer than isoform A. Both variants 5 and 6 encode the same protein (isoform D).

Source sequence(s)

AF128536, BC008037, CN409689, HY009996

UniProtKB/TrEMBL

A0A0U1RR22

Conserved Domains (3) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:431 → 486

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2

pfam16601
Location:343 → 430

NPF; Rabosyn-5 repeating NPF sequence-motif
NM_001349970.2 → NP_001336899.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform D

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform D) has the same N- and C-termini, but is 2 aa longer than isoform A. Both variants 5 and 6 encode the same protein (isoform D).

Source sequence(s)

AF128536, BC008037, CN409689, DB454234, HY009996

UniProtKB/TrEMBL

A0A0U1RR22

Related

ENSP00000489297.1, ENST00000634914.1

Conserved Domains (3) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:431 → 486

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2

pfam16601
Location:343 → 430

NPF; Rabosyn-5 repeating NPF sequence-motif
NM_001349971.2 → NP_001336900.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).

Source sequence(s)

AF128536, BC008037, HY009996, HY342978

UniProtKB/TrEMBL

A0A0U1RR22

Conserved Domains (2) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:390 → 445

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_001349972.1 → NP_001336901.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).

Source sequence(s)

AF128536, AL136845, BC008037, BI964045, DB477051, HY342978

UniProtKB/TrEMBL

A0A0U1RR22

Conserved Domains (2) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:390 → 445

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_001349973.1 → NP_001336902.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).

Source sequence(s)

AF128536, BC008037, BG683098, BI964045, HY342978

UniProtKB/TrEMBL

A0A0U1RR22

Conserved Domains (2) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:390 → 445

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_001349974.2 → NP_001336903.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform E

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting protein (isoform E) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AF128536, BC008037, BI911403, HY049956, HY342978

UniProtKB/TrEMBL

A0A0U1RR22

Conserved Domains (2) summary

cd11998
Location:349 → 404

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2

cl12013
Location:1 → 234

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_007229.3 → NP_009160.2 protein kinase C and casein kinase substrate in neurons protein 2 isoform A

See identical proteins and their annotated locations for NP_009160.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (A).

Source sequence(s)

AF128536, BC008037, BI964045

Consensus CDS

CCDS43023.1

UniProtKB/Swiss-Prot

O95921, Q96HV9, Q9H0D3, Q9NPN1, Q9UNF0, Q9Y4V2

UniProtKB/TrEMBL

A0A0U1RR22

Related

ENSP00000385372.3, ENST00000403744.7

Conserved Domains (3) summary

cd07679
Location:18 → 275

F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)

cd11998
Location:429 → 484

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2

pfam16601
Location:338 → 428

NPF; Rabosyn-5 repeating NPF sequence-motif