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

Gene ID: 6744, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:11319
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
Summary
Enables actin filament binding activity. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 31.5), colon (RPKM 22.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ITPRID2 in Genome Data Viewer
Location:
2q31.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (181891730..181930738)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (182381516..182420528)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182756457..182795465)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16834 Neighboring gene SAP18 pseudogene 2 Neighboring gene RNA, U6atac small nuclear 19, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14896 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182655450-182656649 Neighboring gene Sharpr-MPRA regulatory region 14191 Neighboring gene MPRA-validated peak3961 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182740630-182741829 Neighboring gene Sharpr-MPRA regulatory region 15031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12160 Neighboring gene MPRA-validated peak3962 silencer Neighboring gene MPRA-validated peak3963 silencer Neighboring gene MPRA-validated peak3964 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:182819339-182820538 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Molecular mechanism of SSFA2 deletion inhibiting cell proliferation and promoting cell apoptosis in glioma. Zhu A, et al. Pathol Res Pract, 2019 Mar. PMID 30712887
  2. Relationship between phosphorylation of sperm-specific antigen and prognosis of lung adenocarcinoma. Okayama A, et al. J Proteomics, 2016 Apr 29. PMID 26947549
  3. Analysis of KRAP expression and localization, and genes regulated by KRAP in a human colon cancer cell line. Fujimoto T, et al. J Hum Genet, 2007. PMID 17934691
  4. Cloning and sequencing of cDNA encoding for a human sperm antigen involved in fertilization. Zhu X, et al. Mol Reprod Dev, 1998 Oct. PMID 9740325
  5. Human cleavage signal-1 protein; cDNA cloning, transcription and immunological analysis. Javed AA, et al. Gene, 1992 Mar 15. PMID 1555770

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KRAP is required for diffuse and punctate IP3-mediated Ca(2+) liberation and determines the number of functional IP3R channels within clusters.
    Title: KRAP is required for diffuse and punctate IP(3)-mediated Ca(2+) liberation and determines the number of functional IP(3)R channels within clusters.
  2. Circular RNA UBR1 promotes the proliferation, migration, and invasion but represses apoptosis of lung cancer cells via modulating microRNA-545-5p/SSFA2 axis.
    Title: Circular RNA UBR1 promotes the proliferation, migration, and invasion but represses apoptosis of lung cancer cells via modulating microRNA-545-5p/SSFA2 axis.
  3. KRAP tethers IP3 receptors to actin and licenses them to evoke cytosolic Ca(2+) signals.
    Title: KRAP tethers IP(3) receptors to actin and licenses them to evoke cytosolic Ca(2+) signals.
  4. These result reveals us that SSFA2 may act as oncogene to promote the progression of glioma
    Title: Molecular mechanism of SSFA2 deletion inhibiting cell proliferation and promoting cell apoptosis in glioma.
  5. phosphorylation at Ser92 of the sperm-specific antigen 2 (SSFA2)[phospho-SSFA2 (pS92)], was related to poor prognosis.
    Title: Relationship between phosphorylation of sperm-specific antigen and prognosis of lung adenocarcinoma.
  6. the predicted coiled-coil region & the region adjacent to the coiled-coil region of the carboxyl-terminus of KRAP may be crucial for its interaction with the cytoskeleton or directional targeting toward the apical pole in polarized epithelial cells
    Title: KRAS-induced actin-interacting protein: a potent target for obesity, diabetes and cancer.
  7. KRAP is involved in the proper regulation of IP3R-mediated Ca2+ release.
    Title: KRAS-induced actin-interacting protein regulates inositol 1,4,5-trisphosphate-receptor-mediated calcium release.
  8. the critical region of KRAP protein for the regulation of IP(3)R was determined.
    Title: Determination of the critical region of KRAS-induced actin-interacting protein for the interaction with inositol 1,4,5-trisphosphate receptor.
  9. results suggested that KRAP might be a cytoskeleton-associated protein involving the structural integrity and/or signal transductions in human cancers.
    Title: Analysis of KRAP expression and localization, and genes regulated by KRAP in a human colon cancer cell line.
  10. localized as a membrane-bound form with extracellular regions; results suggested KRAP might be involved in the regulation of filamentous actin and signals from the outside of the cells
    Title: Deregulated expression of KRAP, a novel gene encoding actin-interacting protein, in human colon cancer cells.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ35824, FLJ45996, KIAA1927, DKFZp313O1039, DKFZp779G0129

Gene Ontology Provided by GOA

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

General protein information

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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)

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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)

  1. NM_001130445.3 → NP_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
    A8K6T0, P28290, Q68DA6, Q7Z7L2, Q8N1L3, Q8N263, Q8N7H2, Q8NEN5, Q96E36, Q96PW1
    UniProtKB/TrEMBL
    B4E2E5
    Related
    ENSP00000388731.2, ENST00000431877.7
    Conserved Domains (2) summary
    pfam14722
    Location:148 → 298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:866 → 1017
    SSFA2_C; Sperm-specific antigen 2 C-terminus

  2. NM_001287503.2 → NP_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/TrEMBL
    B4E2E5, E9PHV5
    Related
    ENSP00000387319.1, ENST00000409001.5
    Conserved Domains (2) summary
    pfam14722
    Location:148 → 298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:866 → 1017
    SSFA2_C; Sperm-specific antigen 2 C-terminus

  3. NM_001287504.2 → NP_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/TrEMBL
    B4E2E5
    Conserved Domains (2) summary
    pfam14722
    Location:1 → 147
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:711 → 864
    SSFA2_C; Sperm-specific antigen 2 C-terminus

  4. NM_001287505.2 → NP_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
    Related
    ENST00000480753.1

  5. NM_006751.7 → NP_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/TrEMBL
    B4E2E5
    Related
    ENSP00000314669.7, ENST00000320370.11
    Conserved Domains (2) summary
    pfam14722
    Location:148 → 298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:866 → 1017
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005246813.3 → XP_005246870.1  protein ITPRID2 isoform X2

    UniProtKB/TrEMBL
    B4E2E5
    Conserved Domains (2) summary
    pfam14722
    Location:148 → 298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:866 → 1017
    SSFA2_C; Sperm-specific antigen 2 C-terminus

  2. XM_017004782.3 → XP_016860271.1  protein ITPRID2 isoform X3

    UniProtKB/TrEMBL
    B4E2E5
    Conserved Domains (2) summary
    pfam14722
    Location:148 → 298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:866 → 1017
    SSFA2_C; Sperm-specific antigen 2 C-terminus

  3. XM_047445596.1 → XP_047301552.1  protein ITPRID2 isoform X1

  4. XM_047445598.1 → XP_047301554.1  protein ITPRID2 isoform X6

  5. XM_011511701.4 → XP_011510003.1  protein ITPRID2 isoform X5

    Conserved Domains (2) summary
    pfam14722
    Location:148 → 298
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:866 → 937
    SSFA2_C; Sperm-specific antigen 2 C-terminus

  6. XM_047445597.1 → XP_047301553.1  protein ITPRID2 isoform X4

  7. XM_011511702.4 → XP_011510004.1  protein ITPRID2 isoform X7

    UniProtKB/TrEMBL
    E7EUL7
    Related
    ENSP00000386916.1, ENST00000409136.5
    Conserved Domains (1) summary
    pfam14723
    Location:375 → 526
    SSFA2_C; Sperm-specific antigen 2 C-terminus

  8. XM_047445599.1 → XP_047301555.1  protein ITPRID2 isoform X8

RNA

  1. XR_923000.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    182381516..182420528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343553.1 → XP_054199528.1  protein ITPRID2 isoform X2

  2. XM_054343554.1 → XP_054199529.1  protein ITPRID2 isoform X3

  3. XM_054343552.1 → XP_054199527.1  protein ITPRID2 isoform X1

  4. XM_054343556.1 → XP_054199531.1  protein ITPRID2 isoform X5

  5. XM_054343557.1 → XP_054199532.1  protein ITPRID2 isoform X6

  6. XM_054343555.1 → XP_054199530.1  protein ITPRID2 isoform X4

  7. XM_054343558.1 → XP_054199533.1  protein ITPRID2 isoform X7

    UniProtKB/TrEMBL
    E7EUL7

  8. XM_054343559.1 → XP_054199534.1  protein ITPRID2 isoform X8

RNA

  1. XR_008486498.1 RNA Sequence

  2. XR_008486497.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28290.3 GenPept UniProtKB/Swiss-Prot:P28290

Gene LinkOut

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