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 | - | 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 | - | - | - |