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0  structures 215  species 0  interactions 620  sequences 8  architectures

Family: Auts2 (PF15336)

Summary: Autism susceptibility gene 2 protein

Pfam includes annotations and additional family information from a range of different sources. These sources can be accessed via the tabs below.

The Pfam group coordinates the annotation of Pfam families in Wikipedia, but we have not yet assigned a Wikipedia article to this family. If you think that a particular Wikipedia article provides good annotation, please let us know.

This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.

Autism susceptibility gene 2 protein Provide feedback

Auts2, or FBRSL2, Fibrosin-1-like protein 2, is a family of eukaryotic proteins associated both with a susceptibility to autism [1] and with influencing the number of corpora lutea produced by breeding sows [2].

Literature references

  1. Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Disteche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC;, Genomics. 2002;80:129-134.: Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. PUBMED:12160723 EPMC:12160723

  2. Sato S, Hayashi T, Kobayashi E;, Anim Reprod Sci. 2011;126:211-220.: Characterization of porcine autism susceptibility candidate 2 as a candidate gene for the number of corpora lutea in pigs. PUBMED:21641132 EPMC:21641132


This tab holds annotation information from the InterPro database.

InterPro entry IPR023246

AUTS2 is a novel gene identified in a monozygotic twin pair with autism; its translation product is a large protein containing 1,295 amino acids [PUBMED:12160723]. Following DNA sequence analysis of autism subjects and controls, no autism-specific mutation was observed. Association and linkage analyses were also negative. It is hence considered unlikely that AUTS2 is an autism suspecptibility gene for idiopathic autism, although it may be the gene responsible for the disorder in the twins in this study [PUBMED:12160723]. The AUTS2 gene product shares a high level of similarity with the so-called fibrosin-1-like protein, a functionally uncharacterised polypeptide that contains C-terminal Ala-rich and Pro-rich regions.

Domain organisation

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Alignments

We store a range of different sequence alignments for families. As well as the seed alignment from which the family is built, we provide the full alignment, generated by searching the sequence database (reference proteomes) using the family HMM. We also generate alignments using four representative proteomes (RP) sets, the UniProtKB sequence database, the NCBI sequence database, and our metagenomics sequence database. More...

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We make a range of alignments for each Pfam-A family. You can see a description of each above. You can view these alignments in various ways but please note that some types of alignment are never generated while others may not be available for all families, most commonly because the alignments are too large to handle.

  Seed
(21)
Full
(620)
Representative proteomes UniProt
(1028)
NCBI
(3278)
Meta
(0)
RP15
(77)
RP35
(178)
RP55
(361)
RP75
(453)
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HTML View  View               
PP/heatmap 1 View               

1Cannot generate PP/Heatmap alignments for seeds; no PP data available

Key: ✓ available, x not generated, not available.

Format an alignment

  Seed
(21)
Full
(620)
Representative proteomes UniProt
(1028)
NCBI
(3278)
Meta
(0)
RP15
(77)
RP35
(178)
RP55
(361)
RP75
(453)
Alignment:
Format:
Order:
Sequence:
Gaps:
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Download options

We make all of our alignments available in Stockholm format. You can download them here as raw, plain text files or as gzip-compressed files.

  Seed
(21)
Full
(620)
Representative proteomes UniProt
(1028)
NCBI
(3278)
Meta
(0)
RP15
(77)
RP35
(178)
RP55
(361)
RP75
(453)
Raw Stockholm Download   Download   Download   Download   Download   Download   Download   Download    
Gzipped Download   Download   Download   Download   Download   Download   Download   Download    

You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.

HMM logo

HMM logos is one way of visualising profile HMMs. Logos provide a quick overview of the properties of an HMM in a graphical form. You can see a more detailed description of HMM logos and find out how you can interpret them here. More...

Trees

This page displays the phylogenetic tree for this family's seed alignment. We use FastTree to calculate neighbour join trees with a local bootstrap based on 100 resamples (shown next to the tree nodes). FastTree calculates approximately-maximum-likelihood phylogenetic trees from our seed alignment.

Note: You can also download the data file for the tree.

Curation and family details

This section shows the detailed information about the Pfam family. You can see the definitions of many of the terms in this section in the glossary and a fuller explanation of the scoring system that we use in the scores section of the help pages.

Curation View help on the curation process

Seed source: Jackhmmer:Q9HAH7
Previous IDs: none
Type: Family
Sequence Ontology: SO:0100021
Author: Coggill P
Number in seed: 21
Number in full: 620
Average length of the domain: 186.30 aa
Average identity of full alignment: 46 %
Average coverage of the sequence by the domain: 19.70 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 45638612 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 23.0 23.0
Trusted cut-off 23.0 23.0
Noise cut-off 22.7 22.7
Model length: 218
Family (HMM) version: 6
Download: download the raw HMM for this family

Species distribution

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Selections

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This visualisation provides a simple graphical representation of the distribution of this family across species. You can find the original interactive tree in the adjacent tab. More...

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