Afap1l2 actin filament associated protein 1-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Afap1l2provided by MGI
Official Full Name: actin filament associated protein 1-like 2provided by MGI
Primary source: MGI:MGI:2147658
See related: Ensembl:ENSMUSG00000025083 AllianceGenome:MGI:2147658
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA1914
Summary: Predicted to enable SH2 domain binding activity; SH3 domain binding activity; and protein tyrosine kinase activator activity. Predicted to be involved in several processes, including positive regulation of epidermal growth factor receptor signaling pathway; regulation of gene expression; and regulation of mitotic cell cycle. Predicted to be located in cytoplasm and plasma membrane. Predicted to be active in cytosol. Is expressed in several structures, including adipose tissue; genitourinary system; gut; hemolymphoid system gland; and nervous system. Orthologous to human AFAP1L2 (actin filament associated protein 1 like 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in placenta adult (RPKM 15.2), cerebellum adult (RPKM 10.4) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 D2; 19 52.04 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (56900786..57017021, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (56912354..57028589, complement)

Chromosome 19 - NC_000085.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

XB130 acts as a tumor suppressor in carcinogen-induced skin tumorigenesis that may be mediated through inhibiting inflammation.
Title: XB130 deficiency enhances carcinogen-induced skin tumorigenesis.
we showed that XB130 might play protective roles in lipopolysaccharide-induced systemic septic response and acute lung injury
Title: XB130 deficiency enhances lipopolysaccharide-induced septic response and acute lung injury.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C86904 (e-PCR)
- UniSTS:209483

AU041783 (e-PCR)
- UniSTS:160862

RH143842 (e-PCR)
- UniSTS:233088

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH2 domain binding	IEA Inferred from Electronic Annotation more info
enables SH2 domain binding	ISO Inferred from Sequence Orthology more info
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-8 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-8 production	ISO Inferred from Sequence Orthology more info
involved_in regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in regulation of interleukin-6 production	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: actin filament-associated protein 1-like 2

Names: AFAP1-like protein 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)

NM_001177796.1 → NP_001171267.1 actin filament-associated protein 1-like 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant encodes the longest isoform (1).

Source sequence(s)

AC125150, AC161518, AK087449, BB064561, BB849668

Consensus CDS

CCDS50477.1

UniProtKB/Swiss-Prot

Q5DTU0

Related

ENSMUSP00000107210.3, ENSMUST00000111584.9

Conserved Domains (3) summary

cd13306
Location:183 → 289

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:371 → 471

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

pfam00169
Location:189 → 288

PH; PH domain
NM_001177797.1 → NP_001171268.1 actin filament-associated protein 1-like 2 isoform 2

See identical proteins and their annotated locations for NP_001171268.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AC161518, AK220430, BB064561, BB849668

Consensus CDS

CCDS50476.1

UniProtKB/Swiss-Prot

Q5DTU0, Q8BID1, Q8K2G0

Related

ENSMUSP00000113745.2, ENSMUST00000118800.8

Conserved Domains (3) summary

cd13306
Location:165 → 271

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:353 → 453

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

pfam00169
Location:171 → 270

PH; PH domain
NM_146102.2 → NP_666214.1 actin filament-associated protein 1-like 2 isoform 3

See identical proteins and their annotated locations for NP_666214.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC125150, AC161518, AK048649, BB064561, BB849668

Consensus CDS

CCDS29924.1

UniProtKB/TrEMBL

A0A0R4J1L6

Related

ENSMUSP00000112387.2, ENSMUST00000122359.8

Conserved Domains (4) summary

cd13306
Location:109 → 215

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:297 → 397

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

TIGR02169
Location:593 → 709

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

NF033201
Location:424 → 578

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

56900786..57017021 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161574.1 → XP_036017467.1 actin filament-associated protein 1-like 2 isoform X4

Conserved Domains (4) summary

PRK03918
Location:695 → 799

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:192 → 298

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:399 → 499

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

NF033201
Location:526 → 680

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip
XM_036161572.1 → XP_036017465.1 actin filament-associated protein 1-like 2 isoform X1

Conserved Domains (4) summary

PRK03918
Location:714 → 818

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:211 → 317

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:418 → 518

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

NF033201
Location:545 → 699

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip
XM_036161573.1 → XP_036017466.1 actin filament-associated protein 1-like 2 isoform X2

Conserved Domains (4) summary

PRK03918
Location:696 → 800

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:193 → 299

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:400 → 500

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

NF033201
Location:527 → 681

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip
XM_036161577.1 → XP_036017470.1 actin filament-associated protein 1-like 2 isoform X7

Conserved Domains (4) summary

PRK03918
Location:640 → 744

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:137 → 243

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:344 → 444

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

NF033201
Location:471 → 625

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip
XM_036161575.1 → XP_036017468.1 actin filament-associated protein 1-like 2 isoform X5

Conserved Domains (4) summary

PRK03918
Location:686 → 790

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:183 → 289

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:390 → 490

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

NF033201
Location:517 → 671

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip
XM_036161576.1 → XP_036017469.1 actin filament-associated protein 1-like 2 isoform X6

Conserved Domains (4) summary

PHA03369
Location:489 → 823

PHA03369; capsid maturational protease; Provisional

PRK03918
Location:668 → 772

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:165 → 271

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:372 → 472

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
XM_006527024.3 → XP_006527087.1 actin filament-associated protein 1-like 2 isoform X3

Conserved Domains (4) summary

PHA03369
Location:516 → 850

PHA03369; capsid maturational protease; Provisional

PRK03918
Location:695 → 799

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:211 → 317

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:399 → 499

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
XM_036161579.1 → XP_036017472.1 actin filament-associated protein 1-like 2 isoform X9

Conserved Domains (4) summary

PRK03918
Location:496 → 600

PRK03918; DNA double-strand break repair ATPase Rad50

cd13307
Location:200 → 300

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

NF033201
Location:327 → 481

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip

cl17171
Location:1 → 99

PH-like; Pleckstrin homology-like domain
XM_036161578.1 → XP_036017471.1 actin filament-associated protein 1-like 2 isoform X8

Conserved Domains (4) summary

PRK03918
Location:553 → 657

PRK03918; DNA double-strand break repair ATPase Rad50

cd13306
Location:50 → 156

PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1

cd13307
Location:257 → 357

PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

NF033201
Location:384 → 538

Vip_LPXTG_Lm; cell invasion LPXTG protein Vip