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PRRT2 proline rich transmembrane protein 2 [ Homo sapiens (human) ]

Gene ID: 112476, updated on 22-Sep-2022

Summary

Official Symbol
PRRT2provided by HGNC
Official Full Name
proline rich transmembrane protein 2provided by HGNC
Primary source
HGNC:HGNC:30500
See related
Ensembl:ENSG00000167371 MIM:614386; AllianceGenome:HGNC:30500
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
PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1
Summary
This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression
Broad expression in brain (RPKM 25.3), ovary (RPKM 15.9) and 16 other tissues See more
Orthologs
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Genomic context

See PRRT2 in Genome Data Viewer
Location:
16p11.2
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29812193..29815881)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30094359..30098044)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29823514..29827202)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene kinesin family member 22 Neighboring gene translation initiation factor IF-2-like Neighboring gene MYC associated zinc finger protein Neighboring gene PAXIP1 associated glutamate rich protein 1 Neighboring gene major vault protein Neighboring gene Sharpr-MPRA regulatory region 13449

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25513, DKFZp547J199

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables syntaxin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
located_in presynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
proline-rich transmembrane protein 2
Names
dispanin subfamily B member 3
dystonia 10
infantile convulsions and paroxysmal choreoathetosis
interferon induced transmembrane protein domain containing 1

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

  1. NG_032039.2 RefSeqGene

    Range
    5002..8690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256442.2NP_001243371.1  proline-rich transmembrane protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001243371.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' end compared to variant 1, and encodes a longer isoform (2) compared to isoform 1.
    Source sequence(s)
    AC009133
    Consensus CDS
    CCDS58445.1
    UniProtKB/Swiss-Prot
    Q7Z6L0
    Related
    ENSP00000456226.1, ENST00000567659.3
    Conserved Domains (1) summary
    pfam04505
    Location:258330
    CD225; Interferon-induced transmembrane protein
  2. NM_001256443.2NP_001243372.1  proline-rich transmembrane protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001243372.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs at the 3' end compared to variant 1, and encodes a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC009133
    Consensus CDS
    CCDS58446.1
    UniProtKB/Swiss-Prot
    Q7Z6L0
    Related
    ENSP00000300797.6, ENST00000300797.7
    Conserved Domains (1) summary
    pfam04505
    Location:258296
    CD225; Interferon-induced transmembrane protein
  3. NM_145239.3NP_660282.2  proline-rich transmembrane protein 2 isoform 1

    See identical proteins and their annotated locations for NP_660282.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
    Source sequence(s)
    AC009133
    Consensus CDS
    CCDS10654.1
    UniProtKB/Swiss-Prot
    Q7Z6L0, Q96FA8
    Related
    ENSP00000351608.7, ENST00000358758.12
    Conserved Domains (2) summary
    pfam04505
    Location:264330
    CD225; Interferon-induced transmembrane protein
    cl26464
    Location:25216
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    29812193..29815881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545715.4XP_011544017.1  proline-rich transmembrane protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011544017.1

    UniProtKB/Swiss-Prot
    Q7Z6L0
    Conserved Domains (1) summary
    pfam04505
    Location:258330
    CD225; Interferon-induced transmembrane protein
  2. XM_017022888.3XP_016878377.1  proline-rich transmembrane protein 2 isoform X3

    UniProtKB/Swiss-Prot
    Q7Z6L0, Q96FA8
    Related
    ENSP00000458291.2, ENST00000572820.2
    Conserved Domains (2) summary
    pfam04505
    Location:264330
    CD225; Interferon-induced transmembrane protein
    cl26464
    Location:25216
    Atrophin-1; Atrophin-1 family
  3. XM_017022889.3XP_016878378.1  proline-rich transmembrane protein 2 isoform X4

    Conserved Domains (1) summary
    pfam04505
    Location:258330
    CD225; Interferon-induced transmembrane protein
  4. XM_017022887.3XP_016878376.1  proline-rich transmembrane protein 2 isoform X2

    Conserved Domains (1) summary
    pfam04505
    Location:258330
    CD225; Interferon-induced transmembrane protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    30094359..30098044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)