Format

Send to:

Choose Destination

ITPRID2 ITPR interacting domain containing 2 [ Homo sapiens (human) ]

Gene ID: 6744, updated on 9-Feb-2020

Summary

Official Symbol
ITPRID2provided by HGNC
Official Full Name
ITPR interacting domain containing 2provided by HGNC
Primary source
HGNC:HGNC:11319
See related
Ensembl:ENSG00000138434 MIM:118990
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CS1; CS-1; KRAP; SSFA2; SPAG13
Expression
Ubiquitous expression in skin (RPKM 31.5), colon (RPKM 22.4) and 25 other tissues See more
Orthologs

Genomic context

See ITPRID2 in Genome Data Viewer
Location:
2q31.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (181891730..181930738)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182756472..182795465)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14191 Neighboring gene NEUROD1-SSFA2 intergenic CAGE-defined mid-level expression enhancer Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1C Neighboring gene keratin 18 pseudogene 29 Neighboring gene RNA, 5S ribosomal pseudogene 113

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35824, FLJ45996, KIAA1927, DKFZp313O1039, DKFZp779G0129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein ITPRID2
Names
ITPR-interacting domain-containing protein 2
KRAS-induced actin-interacting protein
cleavage signal-1 protein
ki-ras-induced actin-interacting protein
sperm associated antigen 13
sperm specific antigen 2

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.

mRNA and Protein(s)

  1. NM_001130445.3NP_001123917.1  protein ITPRID2 isoform 1

    See identical proteins and their annotated locations for NP_001123917.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC009962, BC052581, BX647967, DB455116, DB462183
    Consensus CDS
    CCDS46467.1
    UniProtKB/Swiss-Prot
    P28290
    Related
    ENSP00000388731.2, ENST00000431877.7
    Conserved Domains (2) summary
    pfam14722
    Location:148298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:8661017
    SSFA2_C; Sperm-specific antigen 2 C-terminus
  2. NM_001287503.2NP_001274432.1  protein ITPRID2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AC009962, BC052581, BX647967, DB455116, DB462183
    Consensus CDS
    CCDS74611.1
    UniProtKB/Swiss-Prot
    P28290
    UniProtKB/TrEMBL
    E9PHV5
    Related
    ENSP00000387319.1, ENST00000409001.5
    Conserved Domains (2) summary
    pfam14722
    Location:148298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:8661017
    SSFA2_C; Sperm-specific antigen 2 C-terminus
  3. NM_001287504.2NP_001274433.1  protein ITPRID2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR, initiates translation at a downstream start codon, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AC009962, BC052581, BX647967, DB455116, DB462183
    UniProtKB/Swiss-Prot
    P28290
    Conserved Domains (2) summary
    pfam14722
    Location:1145
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:713864
    SSFA2_C; Sperm-specific antigen 2 C-terminus
  4. NM_001287505.2NP_001274434.1  protein ITPRID2 isoform 5

    See identical proteins and their annotated locations for NP_001274434.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC009962, AK093143, BM680256, DB455116, DB455803
  5. NM_006751.7NP_006742.2  protein ITPRID2 isoform 2

    See identical proteins and their annotated locations for NP_006742.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' region, as compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC009962, BC052581, BX647967, DB455116, DB462183
    Consensus CDS
    CCDS2284.1
    UniProtKB/Swiss-Prot
    P28290
    Related
    ENSP00000314669.7, ENST00000320370.11
    Conserved Domains (2) summary
    pfam14722
    Location:148298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:8661017
    SSFA2_C; Sperm-specific antigen 2 C-terminus

RNA

  1. NR_109843.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009962, BC052581, BX647967, BX648888, DB455116, DB462183
    Related
    ENST00000440623.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    181891730..181930738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246812.2XP_005246869.1  protein ITPRID2 isoform X1

    Conserved Domains (2) summary
    pfam14722
    Location:148298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:8661017
    SSFA2_C; Sperm-specific antigen 2 C-terminus
  2. XM_005246813.2XP_005246870.1  protein ITPRID2 isoform X2

    Conserved Domains (2) summary
    pfam14722
    Location:148298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:8661017
    SSFA2_C; Sperm-specific antigen 2 C-terminus
  3. XM_017004782.2XP_016860271.1  protein ITPRID2 isoform X3

  4. XM_011511701.3XP_011510003.1  protein ITPRID2 isoform X4

    Conserved Domains (2) summary
    pfam14722
    Location:148298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:866937
    SSFA2_C; Sperm-specific antigen 2 C-terminus
  5. XM_011511702.3XP_011510004.1  protein ITPRID2 isoform X5

    UniProtKB/TrEMBL
    E7EUL7
    Related
    ENSP00000386916.1, ENST00000409136.5
    Conserved Domains (1) summary
    pfam14723
    Location:375526
    SSFA2_C; Sperm-specific antigen 2 C-terminus

RNA

  1. XR_001738908.2 RNA Sequence

  2. XR_001738906.2 RNA Sequence

  3. XR_001738907.2 RNA Sequence

  4. XR_001738911.2 RNA Sequence

  5. XR_001738912.2 RNA Sequence

    Related
    ENST00000416081.5
  6. XR_001738910.2 RNA Sequence

  7. XR_001738913.2 RNA Sequence

  8. XR_923000.3 RNA Sequence

  9. XR_001738909.2 RNA Sequence

  10. XR_001738905.2 RNA Sequence

  11. XR_002959326.1 RNA Sequence

Support Center