ENSG00000167642
Homo sapiens | |
Features
| Gene ID: | ENSG00000167642 | | | | | Biological name : | SPINT2 | | | | | Synonyms : | O43291 / serine peptidase inhibitor, Kunitz type 2 / SPINT2 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | 1 | | Band: | q13.2 | | Gene start: | 38244035 | | Gene end: | 38292614 | | | | | Corresponding Affymetrix probe sets: | 210715_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000465301
Ensembl peptide - ENSP00000465561
Ensembl peptide - ENSP00000465721
Ensembl peptide - ENSP00000466407
Ensembl peptide - ENSP00000468519
Ensembl peptide - ENSP00000468728
Ensembl peptide - ENSP00000301244
Ensembl peptide - ENSP00000389788
NCBI entrez gene - 10653
See in Manteia.
OMIM - 605124
RefSeq - NM_001166103
RefSeq - NM_021102
RefSeq Peptide - NP_001159575
RefSeq Peptide - NP_066925
swissprot - O43291
swissprot - A0A140VJV6
swissprot - K7EJS4
swissprot - K7EKC8
swissprot - K7EKQ0
swissprot - K7EM91
swissprot - K7ES27
swissprot - K7ESI5
Ensembl - ENSG00000167642
| | | | | Related genetic diseases (OMIM): | 270420 - Diarrhea 3, secretory sodium, congenital, syndromic, 270420 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| O43278 / SPINT1 / serine peptidase inhibitor, Kunitz type 1 | ENSG00000166145 | 29 | | Q96NZ8 / WFIKKN1 / WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 | ENSG00000127578 | 24 | | TFPI / P10646 / tissue factor pathway inhibitor | ENSG00000003436 | 24 | | AMBP / P02760 / alpha-1-microglobulin/bikunin precursor | ENSG00000106927 | 22 | | Q8TEU8 / WFIKKN2 / WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 | ENSG00000173714 | 21 | | TFPI2 / P48307 / tissue factor pathway inhibitor 2 | ENSG00000105825 | 21 | | AC011479.1 | ENSG00000267748 | 14 | | P49223 / SPINT3 / serine peptidase inhibitor, Kunitz type 3 | ENSG00000101446 | 12 |
Protein motifs (from Interpro)
| IPR002223 | Pancreatic trypsin inhibitor Kunitz domain | | IPR020901 | Proteinase inhibitor I2, Kunitz, conserved site | | IPR036880 | Pancreatic trypsin inhibitor Kunitz domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000073 | Ureteral duplication | "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] |
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| | HP:0000143 | Rectovaginal fistula | "The presence of a fistula between the rectum and the vagina." [HPO:curators] |
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| | HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| | HP:0000316 | Hypertelorism | |
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| | HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| | HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| | HP:0000588 | Optic nerve coloboma | |
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| | HP:0000973 | Cutis laxa | |
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| | HP:0001561 | Polyhydramnios | |
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| | HP:0001939 | Metabolism abnormality | |
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| | HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| | HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
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| | HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| | HP:0005208 | Congenital secretory diarrhea | |
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| | HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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Interacting proteins (from Reactome)
No match
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