Description
SH3 and multiple ankyrin repeat domains 2 [Source:HGNC Symbol;Acc:14295]
Gene Synonyms
AUTS17, CORTBP1, CTTNBP1, KIAA1022, PROSAP1, ProSAP1, SHANK, SPANK-3
Location
Chromosome 11: 70,313,961-70,963,623 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 23 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000338508.4 | SHANK2-201 | 8987 | 1850aa | ENSP00000345193.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A6NHU9 C9JFP8 | - | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000449833.2 | SHANK2-205 | 8829 | 1254aa | ENSP00000399423.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EUA2 Q9UPX8 | NM_133266.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000423696.2 | SHANK2-203 | 7884 | 1470aa | ENSP00000394536.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UPX8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000409161.1 | SHANK2-001 | 7198 | 1253aa | ENSP00000386491.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C0SPH0 E7EUA2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000424924.1 | SHANK2-003 | 6821 | 1128aa | ENSP00000402944.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C1X5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000294018.4 | SHANK2-005 | 4422 | 1473aa | ENSP00000294018.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7BXK2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000409530.1 | SHANK2-008 | 2047 | 280aa | ENSP00000387324.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JW40 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000412252.1 | SHANK2-016 | 1376 | 257aa | ENSP00000414876.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q24JS4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000413503.1 | SHANK2-010 | 1282 | 304aa | ENSP00000390735.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JFP8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000449116.2 | SHANK2-204 | 939 | 271aa | ENSP00000394939.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7ZKU9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000457074.1 | SHANK2-009 | 912 | 304aa | ENSP00000388513.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JFP8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000357171.3 | SHANK2-202 | 897 | 281aa | ENSP00000349694.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EX50 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000425049.1 | SHANK2-018 | 557 | 186aa | ENSP00000392674.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000426687.1 | SHANK2-019 | 460 | 153aa | ENSP00000391570.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000419988.1 | SHANK2-006 | 458 | 90aa | ENSP00000406307.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000458632.1 | SHANK2-012 | 320 | 107aa | ENSP00000390636.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000425585.1 | SHANK2-013 | 127 | 42aa | ENSP00000405471.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C2E9 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000468619.1 | SHANK2-004 | 2775 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000470759.1 | SHANK2-020 | 762 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000460048.1 | SHANK2-014 | 736 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000445654.2 | SHANK2-021 | 522 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000498519.1 | SHANK2-007 | 510 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000482659.1 | SHANK2-011 | 381 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |