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SH3PXD2B

GENERAL INFORMATION

Gene name

 SH3PXD2B

Gene description

 SH3 and PX domains 2B

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most cell types, including fibroblasts.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. External characterization data supports antibody staining. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA036471
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Soft tissue

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SH3PXD2B (HGNC Symbol)

Synonyms

 FLJ20831, KIAA1295

Description

 SH3 and PX domains 2B (HGNC Symbol)

Entrez gene summary

 This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Chromosome

 5

Cytoband

 q35.1

Chromosome location (bp)

 172325181 - 172454523

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000174705 (version 83.38)

Entrez gene

 285590

UniProt

 A1X283 (UniProt - Evidence at protein level)

neXtProt

 NX_A1X283

Antibodypedia

 SH3PXD2B antibodies

PROTEIN BROWSER
SH3PXD2B-001
SH3PXD2B-002
SH3PXD2B-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SH3PXD2B-001
ENSP00000309714
ENST00000311601
A1X283 [Direct mapping]
SH3 and PX domain-containing protein 2B
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001654 [eye development]
GO:0002102 [podosome]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006801 [superoxide metabolic process]
GO:0007507 [heart development]
GO:0010314 [phosphatidylinositol-5-phosphate binding]
GO:0022617 [extracellular matrix disassembly]
GO:0030054 [cell junction]
GO:0030154 [cell differentiation]
GO:0032266 [phosphatidylinositol-3-phosphate binding]
GO:0035091 [phosphatidylinositol binding]
GO:0042169 [SH2 domain binding]
GO:0042995 [cell projection]
GO:0045600 [positive regulation of fat cell differentiation]
GO:0060348 [bone development]
GO:0060612 [adipose tissue development]
GO:0070273 [phosphatidylinositol-4-phosphate binding]
GO:0071800 [podosome assembly]
GO:0072657 [protein localization to membrane]
GO:0080025 [phosphatidylinositol-3,5-bisphosphate binding]
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 911 aa
101.6 kDa 		No 0
SH3PXD2B-002
ENSP00000430890
ENST00000519643
G3V144 [Direct mapping]
SH3 and PX domain-containing protein 2B; SH3 and PX domains 2B, isoform CRA_b
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001654 [eye development]
GO:0005515 [protein binding]
GO:0007507 [heart development]
GO:0035091 [phosphatidylinositol binding]
GO:0060348 [bone development]
GO:0071800 [podosome assembly]
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 430 aa
49.2 kDa 		No 0
SH3PXD2B-004
ENSP00000428076
ENST00000518522
H0YAU1 [Direct mapping]
SH3 and PX domain-containing protein 2B
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001654 [eye development]
GO:0007507 [heart development]
GO:0060348 [bone development]
GO:0071800 [podosome assembly]
Show all
 81 aa
9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.