Description
calcium and integrin binding family member 2 [Source:HGNC Symbol;Acc:24579]
Gene Synonyms
DFNB48, KIP2, USH1J
Location
Chromosome 15: 78,396,948-78,423,886 reverse strand.
GRCh37:CM000677.1
About this gene
This gene has 9 transcripts (splice variants), 9 paralogues and is associated with 9 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000258930.3 | CIB2-001 | 1598 | 187aa | ENSP00000258930.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10296 | H0YLX3 O75838 Q05BT6 | NM_006383.3 | 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, |
| ENST00000539011.1 | CIB2-002 | 1511 | 144aa | ENSP00000442459.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS61722 | H0YLX3 Q05BT6 | NM_001271888.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000557846.1 | CIB2-006 | 934 | 138aa | ENSP00000453488.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS61723 | H0YM71 | NM_001271889.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000560618.1 | CIB2-005 | 804 | 167aa | ENSP00000452752.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YKC8 H0YLX3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000559645.1 | CIB2-009 | 462 | 147aa | ENSP00000452980.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YKX8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000559054.1 | CIB2-003 | 443 | 54aa | ENSP00000453377.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLX3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000561190.1 | CIB2-008 | 390 | 126aa | ENSP00000453256.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLL7 H0YLX3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000557818.1 | CIB2-004 | 669 | 48aa | ENSP00000453654.1 | Nonsense mediated decay | H0YML3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000557917.1 | CIB2-007 | 535 | 92aa | ENSP00000453963.1 | Nonsense mediated decay | H0YND4 | - | - |
