Description
SH3 domain and tetratricopeptide repeats 2 [Source:HGNC Symbol;Acc:29427]
Gene Synonyms
CMT4C, KIAA1985, MNMN
Location
Chromosome 5: 148,303,202-148,442,726 reverse strand.
GRCh37:CM000667.1
About this gene
This gene has 17 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000538184.1 | SH3TC2-202 | 4153 | 726aa | ENSP00000441427.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GYY0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000515425.1 | SH3TC2-001 | 4059 | 1288aa | ENSP00000423660.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4293 | B3KXB9 Q8TF17 | NM_024577.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000512049.1 | SH3TC2-005 | 4002 | 1281aa | ENSP00000421860.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B3KXB9 Q14CC0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000394358.2 | SH3TC2-201 | 3276 | 934aa | ENSP00000377886.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JLC3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000502274.1 | SH3TC2-011 | 2681 | 150aa | ENSP00000421092.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q8TF17 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000323829.5 | SH3TC2-004 | 7324 | 227aa | ENSP00000313025.5 | Nonsense mediated decay | D6RA65 | - | - | |
ENST00000504690.1 | SH3TC2-012 | 4416 | 1259aa | ENSP00000425627.1 | Nonsense mediated decay | E9PDF1 | - | - | |
ENST00000504517.1 | SH3TC2-009 | 4153 | 141aa | ENSP00000421779.1 | Nonsense mediated decay | H0Y8Q9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000513604.1 | SH3TC2-007 | 4051 | 227aa | ENSP00000423111.1 | Nonsense mediated decay | D6RA65 | - | - | |
ENST00000511307.1 | SH3TC2-003 | 3276 | 95aa | ENSP00000421420.1 | Nonsense mediated decay | D6RFX2 | - | - | |
ENST00000510779.1 | SH3TC2-010 | 3077 | 37aa | ENSP00000423940.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000513340.1 | SH3TC2-018 | 721 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000515229.1 | SH3TC2-016 | 712 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000503071.1 | SH3TC2-017 | 570 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000510350.1 | SH3TC2-015 | 316 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000504091.1 | SH3TC2-006 | 4522 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000511949.1 | SH3TC2-013 | 573 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |