SSX2IP SSX family member 2 interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: SSX2IPprovided by HGNC
Official Full Name: SSX family member 2 interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:16509
See related: Ensembl:ENSG00000117155 MIM:608690; AllianceGenome:HGNC:16509
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: ADIP; hMsd1
Summary: This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]
Expression: Broad expression in testis (RPKM 29.1), duodenum (RPKM 14.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (84643706..84690745, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (84484101..84537018, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (85109389..85156144, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiRNA-181b-5p Modulates Cell Proliferation, Cell Cycle, and Apoptosis by Targeting SSX2IP in Acute Lymphoblastic Leukemia
Title: MiRNA-181b-5p Modulates Cell Proliferation, Cell Cycle, and Apoptosis by Targeting SSX2IP in Acute Lymphoblastic Leukemia.
Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells.
Title: Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells.
OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.
Title: OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.
High levels of SSX2IP expression significantly predicted DSS.
Title: Expression and prognostic utility of SSX2IP in patients with nasopharyngeal carcinoma.
This study determined the crystallographic structure of human Afadin in complex with LGN.
Title: Concomitant binding of Afadin to LGN and F-actin directs planar spindle orientation.
Studied afadin in complex with beta-catenin in glomeruli and in cultured mesangial cells. Found expression of afadin at mesangial intercellular junctions was greatly decreased in mesangial proliferative nephritis in rats & patients w/glomerulonephritis.
Title: Afadin is localized at cell-cell contact sites in mesangial cells and regulates migratory polarity.
Knockdown of Wdr8 or hMsd1/SSX2IP displayed very similar mitotic defects, in which spindle microtubules became shortened and misoriented.
Title: The conserved Wdr8-hMsd1/SSX2IP complex localises to the centrosome and ensures proper spindle length and orientation.
SSX2IP-mediated microtubule anchoring is essential for proper centriole assembly and duplication. On SSX2IP knockdown, the centriolar satellites become stuck at the microtubule minus end near the centrosome.
Title: Centriolar satellite- and hMsd1/SSX2IP-dependent microtubule anchoring is critical for centriole assembly.
In airway epithelial cells, measles virus spread requires the nectin-4/afadin complex and is based on cytoplasm transfer between columnar cells.
Title: The Nectin-4/Afadin Protein Complex and Intercellular Membrane Pores Contribute to Rapid Spread of Measles Virus in Primary Human Airway Epithelia.
The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone.
Title: The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75067 (e-PCR)
- UniSTS:69437

SHGC-75078 (e-PCR)
- UniSTS:6720

D1S2362 (e-PCR)
- UniSTS:56180

SHGC-75071 (e-PCR)
- UniSTS:22916

SHGC-75077 (e-PCR)
- UniSTS:27810

SHGC-24006 (e-PCR)
- UniSTS:77281

Cda0bg12 (e-PCR)
- UniSTS:60926

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport involved in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intraciliary transport involved in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Rac protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell motility	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in cell leading edge	IEA Inferred from Electronic Annotation more info
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: afadin- and alpha-actinin-binding protein

Names: SSX2-interacting protein; afadin DIL domain-interacting protein; synovial sarcoma, X breakpoint 2 interacting protein

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)

NM_001166293.2 → NP_001159765.1 afadin- and alpha-actinin-binding protein isoform 1

See identical proteins and their annotated locations for NP_001159765.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 5 encode the same isoform (1).

Source sequence(s)

AB023140, AC114482

Consensus CDS

CCDS699.1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8

UniProtKB/TrEMBL

B7ZB07

Related

ENSP00000340279.3, ENST00000342203.8

Conserved Domains (1) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding
NM_001166294.2 → NP_001159766.1 afadin- and alpha-actinin-binding protein isoform 2

See identical proteins and their annotated locations for NP_001159766.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same isoform (2).

Source sequence(s)

AB023140, AC114482, AK294057

Consensus CDS

CCDS53337.1

UniProtKB/TrEMBL

B7ZB07

Related

ENSP00000474480.1, ENST00000605755.5

Conserved Domains (1) summary

pfam11559
Location:36 → 187

ADIP; Afadin- and alpha -actinin-Binding
NM_001166295.2 → NP_001159767.1 afadin- and alpha-actinin-binding protein isoform 2

See identical proteins and their annotated locations for NP_001159767.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same isoform (2).

Source sequence(s)

AB023140, AC114482, AK316472

Consensus CDS

CCDS53337.1

UniProtKB/TrEMBL

B7ZB07

Related

ENSP00000412781.2, ENST00000437941.6

Conserved Domains (1) summary

pfam11559
Location:36 → 187

ADIP; Afadin- and alpha -actinin-Binding
NM_001166417.2 → NP_001159889.1 afadin- and alpha-actinin-binding protein isoform 1

See identical proteins and their annotated locations for NP_001159889.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 5 encode the same isoform (1).

Source sequence(s)

AB023140, AC114482, AY367055

Consensus CDS

CCDS699.1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (1) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding
NM_014021.4 → NP_054740.3 afadin- and alpha-actinin-binding protein isoform 1

See identical proteins and their annotated locations for NP_054740.3

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 5 encode the same isoform (1).

Source sequence(s)

AB023140, AC114482, AL133046

Consensus CDS

CCDS699.1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (1) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

84643706..84690745 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444269.1 → XP_047300225.1 afadin- and alpha-actinin-binding protein isoform X8
XM_047444234.1 → XP_047300190.1 afadin- and alpha-actinin-binding protein isoform X2
XM_005270428.3 → XP_005270485.1 afadin- and alpha-actinin-binding protein isoform X1

See identical proteins and their annotated locations for XP_005270485.1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (1) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding
XM_047444231.1 → XP_047300187.1 afadin- and alpha-actinin-binding protein isoform X2
XM_047444259.1 → XP_047300215.1 afadin- and alpha-actinin-binding protein isoform X7
XM_047444208.1 → XP_047300164.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_047444262.1 → XP_047300218.1 afadin- and alpha-actinin-binding protein isoform X8
XM_017000235.3 → XP_016855724.1 afadin- and alpha-actinin-binding protein isoform X2

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (2) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding

cl25732
Location:110 → 356

SMC_N; RecF/RecN/SMC N terminal domain
XM_047444254.1 → XP_047300210.1 afadin- and alpha-actinin-binding protein isoform X7
XM_047444248.1 → XP_047300204.1 afadin- and alpha-actinin-binding protein isoform X3
XM_047444263.1 → XP_047300219.1 afadin- and alpha-actinin-binding protein isoform X8
XM_024453015.2 → XP_024308783.1 afadin- and alpha-actinin-binding protein isoform X2

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (2) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding

cl25732
Location:110 → 356

SMC_N; RecF/RecN/SMC N terminal domain
XM_047444256.1 → XP_047300212.1 afadin- and alpha-actinin-binding protein isoform X7
XM_047444276.1 → XP_047300232.1 afadin- and alpha-actinin-binding protein isoform X10
XM_047444250.1 → XP_047300206.1 afadin- and alpha-actinin-binding protein isoform X4
XM_047444265.1 → XP_047300221.1 afadin- and alpha-actinin-binding protein isoform X8
XM_005270429.3 → XP_005270486.1 afadin- and alpha-actinin-binding protein isoform X2

See identical proteins and their annotated locations for XP_005270486.1

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (2) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding

cl25732
Location:110 → 356

SMC_N; RecF/RecN/SMC N terminal domain
XM_047444257.1 → XP_047300213.1 afadin- and alpha-actinin-binding protein isoform X7
XM_005270427.3 → XP_005270484.1 afadin- and alpha-actinin-binding protein isoform X1

See identical proteins and their annotated locations for XP_005270484.1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8

UniProtKB/TrEMBL

B7ZB07

Related

ENSP00000432261.1, ENST00000481102.5

Conserved Domains (1) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding
XM_006710331.3 → XP_006710394.1 afadin- and alpha-actinin-binding protein isoform X3

See identical proteins and their annotated locations for XP_006710394.1

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (1) summary

pfam11559
Location:36 → 187

ADIP; Afadin- and alpha -actinin-Binding
XM_047444228.1 → XP_047300184.1 afadin- and alpha-actinin-binding protein isoform X2
XM_011540612.3 → XP_011538914.1 afadin- and alpha-actinin-binding protein isoform X7

UniProtKB/TrEMBL

S4R403

Conserved Domains (1) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding
XM_047444261.1 → XP_047300217.1 afadin- and alpha-actinin-binding protein isoform X7
XM_047444197.1 → XP_047300153.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_017000236.3 → XP_016855725.1 afadin- and alpha-actinin-binding protein isoform X2

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (2) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding

cl25732
Location:110 → 356

SMC_N; RecF/RecN/SMC N terminal domain
XM_017000234.3 → XP_016855723.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8

UniProtKB/TrEMBL

B7ZB07

Conserved Domains (1) summary

pfam11559
Location:63 → 214

ADIP; Afadin- and alpha -actinin-Binding
XM_047444202.1 → XP_047300158.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_047444216.1 → XP_047300172.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_047444251.1 → XP_047300207.1 afadin- and alpha-actinin-binding protein isoform X5
XM_047444252.1 → XP_047300208.1 afadin- and alpha-actinin-binding protein isoform X6

Related

ENSP00000474925.1, ENST00000476905.6
XM_047444275.1 → XP_047300231.1 afadin- and alpha-actinin-binding protein isoform X9

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

84484101..84537018 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334208.1 → XP_054190183.1 afadin- and alpha-actinin-binding protein isoform X8
XM_054334192.1 → XP_054190167.1 afadin- and alpha-actinin-binding protein isoform X2
XM_054334186.1 → XP_054190161.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_054334191.1 → XP_054190166.1 afadin- and alpha-actinin-binding protein isoform X2
XM_054334203.1 → XP_054190178.1 afadin- and alpha-actinin-binding protein isoform X7
XM_054334184.1 → XP_054190159.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_054334205.1 → XP_054190180.1 afadin- and alpha-actinin-binding protein isoform X8
XM_054334187.1 → XP_054190162.1 afadin- and alpha-actinin-binding protein isoform X2
XM_054334199.1 → XP_054190174.1 afadin- and alpha-actinin-binding protein isoform X7
XM_054334195.1 → XP_054190170.1 afadin- and alpha-actinin-binding protein isoform X3
XM_054334206.1 → XP_054190181.1 afadin- and alpha-actinin-binding protein isoform X8
XM_054334189.1 → XP_054190164.1 afadin- and alpha-actinin-binding protein isoform X2
XM_054334201.1 → XP_054190176.1 afadin- and alpha-actinin-binding protein isoform X7
XM_054334210.1 → XP_054190185.1 afadin- and alpha-actinin-binding protein isoform X10
XM_054334196.1 → XP_054190171.1 afadin- and alpha-actinin-binding protein isoform X4
XM_054334207.1 → XP_054190182.1 afadin- and alpha-actinin-binding protein isoform X8
XM_054334188.1 → XP_054190163.1 afadin- and alpha-actinin-binding protein isoform X2
XM_054334202.1 → XP_054190177.1 afadin- and alpha-actinin-binding protein isoform X7
XM_054334180.1 → XP_054190155.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_054334194.1 → XP_054190169.1 afadin- and alpha-actinin-binding protein isoform X3
XM_054334190.1 → XP_054190165.1 afadin- and alpha-actinin-binding protein isoform X2
XM_054334200.1 → XP_054190175.1 afadin- and alpha-actinin-binding protein isoform X7
XM_054334204.1 → XP_054190179.1 afadin- and alpha-actinin-binding protein isoform X7
XM_054334182.1 → XP_054190157.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_054334193.1 → XP_054190168.1 afadin- and alpha-actinin-binding protein isoform X2
XM_054334181.1 → XP_054190156.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_054334183.1 → XP_054190158.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_054334185.1 → XP_054190160.1 afadin- and alpha-actinin-binding protein isoform X1

UniProtKB/Swiss-Prot

A8K8W0, B4DFE3, D3DT13, J3KR02, Q6P2P8, Q6ULS1, Q7L168, Q9UIX0, Q9Y2D8
XM_054334197.1 → XP_054190172.1 afadin- and alpha-actinin-binding protein isoform X5
XM_054334198.1 → XP_054190173.1 afadin- and alpha-actinin-binding protein isoform X6
XM_054334209.1 → XP_054190184.1 afadin- and alpha-actinin-binding protein isoform X9