1. Gene
  2. EQTN - equatorin Gene

EQTN - equatorin Gene

中文名称:赤道

种属: Homo sapiens

同用名: AFAF; SPACA8; C9orf11

基因 ID: 54586 | 基因类型: protein coding

关于 EQTN

Cytogenetic location: 9p21.2 Genomic coordinates (GRCh38): 9:27,284,654-27,297,150 (from NCBI)

This gene has 4 transcripts (splice variants) and 62 orthologues. Restricted expression toward testis (RPKM 7.3).

功能概要

预计参与顶体小泡胞吐;内吞作用;单次受精过程中精子与卵质膜的融合。预测位于顶体膜;早期内体;和核。预计在顶体内膜有活性;外顶体膜;和质膜。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in acrosomal vesicle exocytosis; endocytosis; and fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in acrosomal membrane; early endosome; and nucleus. Predicted to be active in inner acrosomal membrane; outer acrosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

EQTN 基因产物(2)

mRNA Protein Name
NM_001161585.2 NP_001155057.1 equatorin isoform 2 precursor
NM_020641.3 NP_065692.2 equatorin isoform 1 precursor

EQTN 蛋白结构

Afaf

Afaf: Acrosome formation-associated factor (53 - 250)

  • 0
  • 100
  • 200
  • 294 a.a.
蛋白主名 其他名称

equatorin

Acrosome formation associated factor

关联疾病

疾病名称 别名
Bronchiectasis 1
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis

Hftc

Hyperostosis-Hyperphosphatemia Syndrome

Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

Tumoral Calcinosis, Hyperphosphatemic, Familial

Phptc

Lipocalcinogranulomatosis

Morbus Teutschlaender

Hhs

Hyperostosis With Hyperphosphatemia

Cortical Hyperostosis With Hyperphosphatemia

Primary Hyperphosphatemic Tumoral Calcinosis

Familial Tumoral Calcinosis

HFTC1

Hypercalcemic Tumoral Calcinosis

Hyperphosphatemia Hyperostosis

Hyperphosphatemia Hyperostosis Syndrome

Hyperphosphatemia Tumoral Calcinosis

Tumoral Calcinosis

Calcinosis, Tumoral, With Hyperphosphatemia

Tumoral Calcinosis, Primary Hyperphosphatemic

Teutschlaender Disease, Familial

Familial Teutschlaender Disease

Tumoral Calcinosis With Hyperphosphatemia

Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Ftc/Hhs

Familial Tumoral Calcinosis With Hyperphosphatemia

Teutschlaender Disease

Tumoral Calcinosis Primary Hyperphosphatemic

Calcinosis, Tumoral, Hyperphosphatemic, Familial

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus EQTN VGNC VGNC:102923
Mus musculus EQTN MGD MGI:1915003
Bos taurus EQTN VGNC VGNC:56963
Canis familiaris EQTN VGNC VGNC:51714
Macaca mulatta EQTN VGNC VGNC:72040
Rattus norvegicus EQTN RGD RGD:1563332