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CASKIN2 CASK interacting protein 2 [ Homo sapiens (human) ]

Gene ID: 57513, updated on 1-Jun-2020

Summary

Official Symbol
CASKIN2provided by HGNC
Official Full Name
CASK interacting protein 2provided by HGNC
Primary source
HGNC:HGNC:18200
See related
Ensembl:ENSG00000177303 MIM:612185
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
ANKS5B
Summary
This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Expression
Ubiquitous expression in fat (RPKM 13.1), lung (RPKM 12.8) and 24 other tissues See more
Orthologs

Genomic context

See CASKIN2 in Genome Data Viewer
Location:
17q25.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75500261..75515537, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73496341..73511664, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 94 Neighboring gene Sharpr-MPRA regulatory region 2319 Neighboring gene microRNA 6785 Neighboring gene Sharpr-MPRA regulatory region 12010 Neighboring gene uncharacterized LOC107985023 Neighboring gene tRNA splicing endonuclease subunit 54

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21609, KIAA1139

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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.

Genomic

  1. NG_033152.1 RefSeqGene

    Range
    5047..20323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142643.3NP_001136115.1  caskin-2 isoform b

    See identical proteins and their annotated locations for NP_001136115.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC100787, AK300354, AK315936, BC066643
    Consensus CDS
    CCDS45775.1
    UniProtKB/Swiss-Prot
    Q8WXE0
    Related
    ENSP00000406963.2, ENST00000433559.6
    Conserved Domains (9) summary
    cd09497
    Location:406471
    SAM_caskin1,2_repeat1; SAM domain of caskin protein repeat 1
    cd09498
    Location:472542
    SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
    smart00454
    Location:478539
    SAM; Sterile alpha motif
    cd12063
    Location:202263
    SH3_Caskin2; Src Homology 3 domain of CASK interacting protein 2
    cd00204
    Location:27159
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:70169
    Ank_2; Ankyrin repeats (3 copies)
    pfam16632
    Location:10631120
    Caskin-tail; C-terminal region of Caskin
    pfam16907
    Location:716801
    Caskin-Pro-rich; Proline rich region of Caskin proteins
    sd00045
    Location:3263
    ANK; ANK repeat [structural motif]
  2. NM_020753.5NP_065804.2  caskin-2 isoform a

    See identical proteins and their annotated locations for NP_065804.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC066643, DA336467, DA538297
    Consensus CDS
    CCDS11723.1
    UniProtKB/Swiss-Prot
    Q8WXE0
    Related
    ENSP00000325355.3, ENST00000321617.8
    Conserved Domains (9) summary
    cd09497
    Location:488553
    SAM_caskin1,2_repeat1; SAM domain of caskin protein repeat 1
    cd09498
    Location:554624
    SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
    smart00454
    Location:560621
    SAM; Sterile alpha motif
    cd12063
    Location:284345
    SH3_Caskin2; Src Homology 3 domain of CASK interacting protein 2
    cd00204
    Location:76209
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:152251
    Ank_2; Ankyrin repeats (3 copies)
    pfam16632
    Location:11451202
    Caskin-tail; C-terminal region of Caskin
    pfam16907
    Location:798883
    Caskin-Pro-rich; Proline rich region of Caskin proteins
    sd00045
    Location:114145
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    75500261..75515537 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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